GGRNA Home | Help | Advanced search

2024-04-26 01:44:38, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001171894            5771 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant
            5, mRNA.
ACCESSION   NM_001171894
VERSION     NM_001171894.1  GI:284807139
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5771)
  AUTHORS   Nitert,M.D., Dayeh,T., Volkov,P., Elgzyri,T., Hall,E., Nilsson,E.,
            Yang,B.T., Lang,S., Parikh,H., Wessman,Y., Weishaupt,H., Attema,J.,
            Abels,M., Wierup,N., Almgren,P., Jansson,P.A., Ronn,T., Hansson,O.,
            Eriksson,K.F., Groop,L. and Ling,C.
  TITLE     Impact of an exercise intervention on DNA methylation in skeletal
            muscle from first-degree relatives of patients with type 2 diabetes
  JOURNAL   Diabetes 61 (12), 3322-3332 (2012)
   PUBMED   23028138
  REMARK    GeneRIF: DNA methylation of genes in retinol metabolism and calcium
            signaling pathways (P < 3 x 10-6) and with known functions in
            muscle and T2D including MEF2A, RUNX1, NDUFC2, and THADA decreased
            after exercise
REFERENCE   2  (bases 1 to 5771)
  AUTHORS   Zhao,W., Zhao,S.P. and Peng,D.Q.
  TITLE     The effects of myocyte enhancer factor 2A gene on the
            proliferation, migration and phenotype of vascular smooth muscle
            cells
  JOURNAL   Cell Biochem. Funct. 30 (2), 108-113 (2012)
   PUBMED   22028303
  REMARK    GeneRIF: MEF2A dominant negative mutation enhanced cell
            proliferation and cell migration.
REFERENCE   3  (bases 1 to 5771)
  AUTHORS   Liu,Y., Niu,W., Wu,Z., Su,X., Chen,Q., Lu,L. and Jin,W.
  TITLE     Variants in exon 11 of MEF2A gene and coronary artery disease:
            evidence from a case-control study, systematic review, and
            meta-analysis
  JOURNAL   PLoS ONE 7 (2), E31406 (2012)
   PUBMED   22363637
  REMARK    GeneRIF: The rare 21-bp deletion might have a more compelling
            effect on coronary artery disease (CAD) than the common (CAG)(n)
            polymorphism, and MEF2A genetic variant might be a rare but
            specific cause of CAD/myocardial infarction.
            Review article
REFERENCE   4  (bases 1 to 5771)
  AUTHORS   Katsarou,K., Tsitoura,P. and Georgopoulou,U.
  TITLE     MEK5/ERK5/mef2: a novel signaling pathway affected by hepatitis C
            virus non-enveloped capsid-like particles
  JOURNAL   Biochim. Biophys. Acta 1813 (10), 1854-1862 (2011)
   PUBMED   21767578
  REMARK    GeneRIF: HCVne particles are capable of inducing the recently
            discovered ERK5 pathway, in a dose dependent way.
REFERENCE   5  (bases 1 to 5771)
  AUTHORS   She,H. and Mao,Z.
  TITLE     Regulation of myocyte enhancer factor-2 transcription factors by
            neurotoxins
  JOURNAL   Neurotoxicology 32 (5), 563-566 (2011)
   PUBMED   21741404
  REMARK    GeneRIF: [review] In this work, the mechanisms of regulation of
            MEF2 function by several well-known neurotoxins and their
            implications in various neurodegenerative diseases are reviewed.
            Review article
REFERENCE   6  (bases 1 to 5771)
  AUTHORS   Molkentin,J.D., Black,B.L., Martin,J.F. and Olson,E.N.
  TITLE     Cooperative activation of muscle gene expression by MEF2 and
            myogenic bHLH proteins
  JOURNAL   Cell 83 (7), 1125-1136 (1995)
   PUBMED   8548800
REFERENCE   7  (bases 1 to 5771)
  AUTHORS   Hobson,G.M., Krahe,R., Garcia,E., Siciliano,M.J. and Funanage,V.L.
  TITLE     Regional chromosomal assignments for four members of the MADS
            domain transcription enhancer factor 2 (MEF2) gene family to human
            chromosomes 15q26, 19p12, 5q14, and 1q12-q23
  JOURNAL   Genomics 29 (3), 704-711 (1995)
   PUBMED   8575763
REFERENCE   8  (bases 1 to 5771)
  AUTHORS   Funk,W.D. and Wright,W.E.
  TITLE     Cyclic amplification and selection of targets for multicomponent
            complexes: myogenin interacts with factors recognizing binding
            sites for basic helix-loop-helix, nuclear factor 1,
            myocyte-specific enhancer-binding factor 2, and COMP1 factor
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 89 (20), 9484-9488 (1992)
   PUBMED   1329097
REFERENCE   9  (bases 1 to 5771)
  AUTHORS   Yu,Y.T., Breitbart,R.E., Smoot,L.B., Lee,Y., Mahdavi,V. and
            Nadal-Ginard,B.
  TITLE     Human myocyte-specific enhancer factor 2 comprises a group of
            tissue-restricted MADS box transcription factors
  JOURNAL   Genes Dev. 6 (9), 1783-1798 (1992)
   PUBMED   1516833
REFERENCE   10 (bases 1 to 5771)
  AUTHORS   Pollock,R. and Treisman,R.
  TITLE     Human SRF-related proteins: DNA-binding properties and potential
            regulatory targets
  JOURNAL   Genes Dev. 5 (12A), 2327-2341 (1991)
   PUBMED   1748287
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA778137.1, AB208985.1,
            AC022692.11 and N93079.1.
            
            Summary: The protein encoded by this gene is a DNA-binding
            transcription factor that activates many muscle-specific, growth
            factor-induced, and stress-induced genes. The encoded protein can
            act as a homodimer or as a heterodimer and is involved in several
            cellular processes, including muscle development, neuronal
            differentiation, cell growth control, and apoptosis. Defects in
            this gene could be a cause of autosomal dominant coronary artery
            disease 1 with myocardial infarction (ADCAD1). Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (5) uses an alternate coding exon,
            and contains an additional 5' non-coding exon, compared to
            transcript variant 1. This results in a shorter isoform (2) with a
            varied internal 43 aa segment compared to isoform 1. Variants 2 and
            5 both encode isoform 2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB208985.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DA778137.1         1-23
            24-1469             AB208985.1         1-1446
            1470-1470           AC022692.11        146256-146256
            1471-3092           AB208985.1         1448-3069
            3093-5749           AC022692.11        153286-155942
            5750-5771           N93079.1           1-22                c
FEATURES             Location/Qualifiers
     source          1..5771
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26"
     gene            1..5771
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="myocyte enhancer factor 2A"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:6993"
                     /db_xref="MIM:600660"
     exon            1..177
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     exon            178..259
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       225
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115186154"
     exon            260..467
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       273
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187129021"
     variation       301
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111970264"
     variation       302..303
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:151012635"
     STS             305..373
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     variation       376
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370002348"
     exon            468..663
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    601..603
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="upstream in-frame stop codon"
     CDS             610..2103
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="isoform 2 is encoded by transcript variant 5; MADS
                     box transcription enhancer factor 2, polypeptide A
                     (myocyte enhancer factor 2A); myocyte-specific enhancer
                     factor 2A; serum response factor-like protein 1"
                     /codon_start=1
                     /product="myocyte-specific enhancer factor 2A isoform 2"
                     /protein_id="NP_001165365.1"
                     /db_xref="GI:284807140"
                     /db_xref="CCDS:CCDS53978.1"
                     /db_xref="GeneID:4205"
                     /db_xref="HGNC:6993"
                     /db_xref="MIM:600660"
                     /translation="
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCESPDADDYFEHSPLSEDRFSKLNEDSDFIFKRGPPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAASSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLNTQRISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQPPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSPIVLGRPPNTEDRESPSVKRMRMDAWVT
"
     misc_feature    613..843
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="MEF2 (myocyte enhancer factor 2)-like/Type II
                     subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF
                     (serum response factor) box family of eukaryotic
                     transcriptional regulators. Binds DNA and exists as hetero
                     and homo-dimers. Differs from SRF-like/Type I...; Region:
                     MADS_MEF2_like; cd00265"
                     /db_xref="CDD:29020"
     misc_feature    order(613..621,625..627,631..633,646..648,652..654,
                     664..669,676..681,685..690,697..702,706..711,721..723)
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:29020"
     misc_feature    order(670..672,691..696,703..708,712..717,724..726,
                     739..741,745..747,751..753,769..771,775..777,793..795,
                     802..807,814..816,823..828)
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="dimerization interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:29020"
     misc_feature    784..786
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="putative phosphorylation site [posttranslational
                     modification]; other site"
                     /db_xref="CDD:29020"
     misc_feature    892..1068
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /note="Holliday junction regulator protein family
                     C-terminal repeat; Region: HJURP_C; pfam12347"
                     /db_xref="CDD:152782"
     STS             619..1030
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /standard_name="Mef2a"
                     /db_xref="UniSTS:265600"
     STS             619..979
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /standard_name="Mef2a"
                     /db_xref="UniSTS:265601"
     variation       633
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370523988"
     exon            664..867
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       723
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191032083"
     variation       751
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368747387"
     variation       774
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372436031"
     variation       777
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200687749"
     exon            868..999
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       868
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17423081"
     variation       875
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3205682"
     variation       890
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368757733"
     variation       891
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1135555"
     variation       897
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1135556"
     variation       900
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1135557"
     variation       906
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1135558"
     variation       909
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1135559"
     variation       910
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1135560"
     variation       915
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1135561"
     variation       922
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1135562"
     variation       926
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3208173"
     variation       932
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1135563"
     variation       939
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1136937"
     variation       942
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3198317"
     variation       945
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1135564"
     variation       948
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1135565"
     variation       954
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1135566"
     variation       956
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1135567"
     variation       957
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1135568"
     variation       961
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1135569"
     variation       969
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1135570"
     variation       974
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1135571"
     variation       979
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1135572"
     variation       980
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1135574"
     variation       995
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1135575"
     variation       999
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:17420057"
     exon            1000..1219
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       1070
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374058145"
     variation       1120
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189538320"
     variation       1122
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3803420"
     variation       1155
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146192119"
     variation       1166
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:370083199"
     variation       1201
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373867888"
     exon            1220..1279
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       1232
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199820037"
     variation       1248
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376779827"
     variation       1261
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377207410"
     exon            1280..1467
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       1346
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189526729"
     variation       1360
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:199751824"
     variation       1365
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369943942"
     variation       1391
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121918530"
     variation       1399
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:79454361"
     variation       1410
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200748600"
     variation       1437
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369552532"
     variation       1438
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373219260"
     variation       1439
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121918529"
     variation       1451
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121918531"
     variation       1464
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376183174"
     exon            1468..1594
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       1470..1471
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17854846"
     variation       1470
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:325408"
     variation       1476
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:325407"
     variation       1515
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3730283"
     variation       1551
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372479689"
     variation       1573
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373204094"
     exon            1595..1721
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       1608
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373943430"
     variation       1611
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368107439"
     variation       1612
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373128826"
     exon            1722..5757
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /inference="alignment:Splign:1.39.8"
     variation       1722
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199613639"
     variation       1751
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375108417"
     variation       1764
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369483642"
     STS             1781..1938
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /standard_name="G64293"
                     /db_xref="UniSTS:158672"
     variation       1817
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372533601"
     variation       1827
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144461661"
     variation       1829
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369579124"
     variation       1830
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3730059"
     variation       1836..1837
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="cagcag"
                     /db_xref="dbSNP:374033278"
     variation       1837..1842
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="cagcag"
                     /db_xref="dbSNP:3138597"
     variation       1837..1839
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="cag"
                     /db_xref="dbSNP:373652230"
     variation       1841..1846
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="agcagc"
                     /db_xref="dbSNP:58424802"
     variation       1845..1850
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="gcagca"
                     /db_xref="dbSNP:72276751"
     variation       1846..1847
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="cagcag"
                     /db_xref="dbSNP:72236998"
     variation       1847..1848
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="agcagc"
                     /db_xref="dbSNP:72416294"
     variation       1853
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200861006"
     variation       1856..1861
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="agcagc"
                     /db_xref="dbSNP:72198683"
     variation       1865
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201861701"
     variation       1868
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199811207"
     variation       1874
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369815961"
     variation       1884
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367780642"
     variation       1932
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:325400"
     variation       1948
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370921147"
     variation       2019
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34851361"
     variation       2020
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111748677"
     variation       2033
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370778860"
     variation       2248..2249
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="gtgt"
                     /db_xref="dbSNP:145618675"
     variation       2248
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201277440"
     variation       2249..2250
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="gtgt"
                     /db_xref="dbSNP:144020290"
     variation       2250..2251
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="gtgt"
                     /db_xref="dbSNP:10628004"
     variation       2255..2256
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="gtgt"
                     /db_xref="dbSNP:34507751"
     variation       2255
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28444186"
     variation       2295
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374107493"
     variation       2342
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376220587"
     variation       2606
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75665175"
     variation       2617
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140014502"
     variation       2629
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72760574"
     variation       2671
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:190007997"
     variation       2678
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201784078"
     variation       2678
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34756453"
     variation       2743
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:145205421"
     variation       2755
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11635271"
     STS             2758..3107
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /standard_name="D15S907"
                     /db_xref="UniSTS:279"
     variation       2968
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182261693"
     variation       3119
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1059750"
     variation       3120
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186608671"
     variation       3145
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1454315"
     variation       3295
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190999757"
     variation       3525..3529
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="gttaa"
                     /db_xref="dbSNP:71982844"
     variation       3532
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="aactt"
                     /db_xref="dbSNP:67611863"
     variation       3535
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1059755"
     variation       3536
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149125295"
     variation       3540
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1059756"
     variation       3546
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1059757"
     variation       3570..3571
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1059758"
     variation       3571
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:325399"
     variation       3576
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1136940"
     variation       3761
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142460833"
     variation       3762
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184041593"
     variation       3787
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368872347"
     variation       3852
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:897074"
     variation       4080
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188542083"
     variation       4099
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372386338"
     variation       4131
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375267826"
     variation       4138
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:59420387"
     variation       4140
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:12902459"
     variation       4141..4142
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:67644135"
     variation       4142
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:58267790"
     variation       4144..4145
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="cc"
                     /db_xref="dbSNP:141367967"
     variation       4144
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:144314500"
     variation       4146
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11550216"
     variation       4147
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:75869168"
     variation       4148
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148429386"
     variation       4153
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="c"
                     /replace="cc"
                     /db_xref="dbSNP:58849948"
     variation       4161
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1059759"
     variation       4173
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:325383"
     variation       4231
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:325382"
     variation       4299
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1059760"
     variation       4312
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11550217"
     variation       4317
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:193162969"
     variation       4336
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:184981047"
     variation       4339
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187250165"
     variation       4422
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:372383636"
     variation       4479
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146891523"
     variation       4669
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191660882"
     variation       4778
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:41303617"
     variation       4859
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140716704"
     variation       4941
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:325381"
     variation       4942
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:200152842"
     variation       4960
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183911417"
     variation       5038
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113970475"
     variation       5066
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188188955"
     variation       5071
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:34602555"
     variation       5150
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182321371"
     variation       5152
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113827147"
     variation       5192
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145829205"
     variation       5199..5200
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="cat"
                     /db_xref="dbSNP:374735275"
     variation       5199
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77710130"
     variation       5200..5201
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace=""
                     /replace="atc"
                     /db_xref="dbSNP:371572866"
     variation       5219
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:28377673"
     variation       5233
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:138403437"
     variation       5344
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74033759"
     STS             5482..5754
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /standard_name="D15S901"
                     /db_xref="UniSTS:13157"
     variation       5605
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150316263"
     variation       5667
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:12442844"
     polyA_site      5685
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
     polyA_signal    5709..5714
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
     polyA_site      5738
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
     variation       5745
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:325380"
     polyA_site      5757
                     /gene="MEF2A"
                     /gene_synonym="ADCAD1; mef2; RSRFC4; RSRFC9"
ORIGIN      
agaacgagttccggtctggccgaggcttgtctcctaaaaatagccccggtgtggggatccgtgcgcggatgtcccggcgagtcccgggctgaaagaggcggctccgggcggcgcgaagcgctggtggcgggcccgggctgcggcgtgtgcgcgcccgccagctgctccggagatacggaattgcattttgtgaaaaaagaacaagaattttctgcaaggatcatatctaagtgcactttttgctgatacttcatttctatctcactctaccccccaggctgaagtgcagtggtgtgatctcggttcactgcaacctccgcctccaggttcaagtgattctcgtacctcagcctcccgagtagctgggattacaggcgcctgccaccatgcctggctgatatttatatttttagtagagatggagtttcaccatgttggccaggctggtctcgaactctggacctcagatcttgtagaaaatttcagctgtagcccttggactagaagctgaaataacagaagctgtgtacgatgcattagggtattgaagaaaattaacttttgaattaaatatttggaatataaggaaataaggaaagttgactgaaaatggggcggaagaaaatacaaatcacacgcataatggatgaaaggaaccgacaggtcacttttacaaagagaaagtttggattaatgaagaaagcctatgaacttagtgtgctctgtgactgtgaaatagcactcatcattttcaacagctctaacaaactgtttcaatatgctagcactgatatggacaaagttcttctcaagtatacagaatataatgaacctcatgaaagcagaaccaactcggatattgttgagactttaagaaagaaaggccttaatggttgtgagagccctgatgctgacgattactttgagcacagtccactctcggaggacagattcagcaaactaaatgaagatagtgattttattttcaaacgaggccctcctggtctgccacctcagaacttttcaatgtctgtcacagttccagtgaccagccccaatgctttgtcctacactaacccagggagttcactggtgtccccatctttggcagccagctcaacgttaacagattcaagcatgctctctccacctcaaaccacattacatagaaatgtgtctcctggagctcctcagagaccaccaagtactggcaatgcaggtgggatgttgagcactacagacctcacagtgccaaatggagctggaagcagtccagtggggaatggatttgtaaactcaagagcttctccaaatttgattggagctactggtgcaaatagcttaggcaaagtcatgcctacaaagtctccccctccaccaggtggtggtaatcttggaatgaacagtaggaaaccagatcttcgagttgtcatccccccttcaagcaagggcatgatgcctccactaaatacccaaaggatcagtagttctcaagccactcaacctcttgctaccccagtcgtgtctgtgacaaccccaagcttgcctccgcaaggacttgtgtactcagcaatgccgactgcctacaacactgattattcactgaccagcgctgacctgtcagcccttcaaggcttcaactcgccaggaatgctgtcgctgggacaggtgtcggcctggcagcagcaccacctaggacaagcagccctcagctctcttgttgctggagggcagttatctcagggttccaatttatccattaataccaaccaaaacatcagcatcaagtccgaaccgatttcacctcctcgggatcgtatgaccccatcgggcttccagcagcagcagcagcagcagcagcagcagcagccgccgccaccaccgcagccccagccacaacccccgcagccccagccccgacaggaaatggggcgctcccctgtggacagtctgagcagctctagtagctcctatgatggcagtgatcgggaggatccacggggcgacttccattctccaattgtgcttggccgacccccaaacactgaggacagagaaagcccttctgtaaagcgaatgaggatggacgcgtgggtgacctaaggcttccaagctgatgtttgtacttttgtgttactgcagtgacctgccctacatatctaaatcggtaaataaggacatgagttaaatatatttatatgtacatacatatatatatccctttacatatatatgtatgtgggtgtgagtgtgtatgtgtgggtgtgtgttacatacacagaatcaggcacttacctgcaaactccttgtaggtctgcagatgtgtgtcccatggcagacaaagcaccctgtaggcacagacaagtctggcacttccttggactacttgtttcgtaaagataaccagtttttgcagagaaacgtgtacccatatataattctcccacactagcttgcagaaacctagagggccccctacttgttttatttaactgtgcagtgactgtagttacttaagagaaaatgctttgtagaacagagcagtagaaaagcaggaaccaagaaagcaatactgtacataaaatgtcatttatattttccaacctggcatgggtgtctgttgcaaaggggtgcatgggaaagggctgttgatattaaaaacaaacaaaacaaaaaagccccacacataactgttttgcacgtgcaaaaatgtattgggtcaagaagtgatctttagctaataaagaaagagaatagaaaacacgcatgagatattcagaaaatactagcctagaaatatagagcattaacaaagtaaaattaatatattaagttataattggaatatgtcagaagtttctttttacattcatatcttaaaaattaaagaaactgattttagctcatgtatattttatatgaaagaaaacacccttatgaattgatgactatatataaaattatattcactacttttgaacacattctgctatgaattatttatataagccaaagctatatgttgtaacttttttttagagaatagctttatcttggtttaactctttagttttattttaagaggggaaaacaaaaatatcttgcaagcagaaccttggaaaaaaaaagccatgaacacttattctaaatgtaaattaaaagttgagccaaactctttgtgtatatagcatcttaaatatattatcacctttgatgtaagtacctatgtattgtatggtcaccagattaaaaagtatatttttgtggattgccgccaatctggggggaaaaggcgaggtcctttattaagtattcactgtttaatatttactattttgttaaatatactgtactttggattttaattattagcccagttttttcagaggattgtataaaggggtttctcccctcactggtggtgaatgtgtgatgttacattgtaatctttgtgctgtatgggttgagcatcattatatattttgtatgtgtacataaatagcaaagtggcaaaaaaaattggtgttaagttcatcctgcataagtataaaatgtgttgtaacagattttgtaaggcattatttaaaacttgccttttgtgaggaaaaaatgtagtagaaaaagctgacctaatttaattaatattagagaaaatggcaaaatagtagatgagcacaaaggttttataagtggtaaatgattaggggaaaataatcatggggaaagggatcttttttccttgaccctctgaaaacagaacgatgcagctggttacaaaatcctaccgttatcagctcttctgcacattgcagtgatgctttggtatgcggggagaaacactcttagggtgctggtccttggcatgactcttgccattctaattggaattagtgccaccctcagcttggattttgaacaaggccttattctttcaggaagacaactaatggatgatagcaagttcatccacttactgggcttgtgccatgagcaaaattcaaagtcctgtatatctttcattgtagatttttaaatactccttttcctaaaaaactcaagggtttaaaaattgctattttatattttaaatgatattgagcagctacctacaatttctatgtacattttgttcccccccccccaccccccccccaaattacgttccttttgacattttcctcatctgctgtttgtgacaagtcatcagccagatttcctgactgacacataggtatgatcagtgcaggagagacctgcgcaccacaggctgcaaactggaggttctgttctcatggcagtttgggcagtaacttttgagagaggccaaaaaaaggaggatgacatgctgtctcctctcttcagtatagacattaggctcttattcagaaaggatttttctttaaaaatgtacttactttactgaactacttacaggcacatttcttcataaggccacacctaatccaaacaagacagtctcccaacactgaagttccaaaataatccttaccactttgtaaaccatttatagctttgaaagtgttaagtgattccttcgttattatttatgcatgttcatgaacttctgctgtacattggaataggagttaacacattcacatttactgtctattttcttgtgtgccttatgagatggcttttctgactgtatctcaatagtctttctttctatgcaggtttataatcagtacaactactgttttctaaaatactactactcaaggctcggagtttgtatttaaattacactgaccaagtaacaatgtattccatttcaggaactgaatatttgactgttaacctttttcccatacgtccagtgtggcatggagcatatggacttgacagacatctctcacccagacgcccacgtgtgaacacacccacatccacatctctgggtggaaaccagcctagagaggggacgacgctaatggtgttgctttagaaccgtcttttcttacccttttagactcgtgttttgtatgagacaccattgcaagaaaattttatccctccagaagtattttattactaaagaacaaaagcaaaaaaagcttaaattgcactggttaaagtacagtttccaacagctgtccttcctcagtactctaatggccactccaccgcgagtggaagtcactgttgtgtgtacacaggtggtcccaatcaaaactccatcttttgagcccaattatgtccattttgttatagactaaatcaggggtttgttctacaagaacaatacatgttttaccctttcctttaactagaaggataactagtaatgcatcaacataatttctgtattaaccatcatgcgcacaagaaatacatagtaaataaggaagctgaaaactcctggcattggatcttaagctagatgattagaatgtgaaaaagattttacaaatgtaaaacttctatttctctgtagaaactttcttcactttgctgtgcaagaagacactgctttgctatatttaaaatggcttttttaaaagagatttatgtatttggtaaatgtttgtagtcaacagttcacacaagaagctgtacacggtttgatcatgtaaaaccgtttggcggcacaagctggactttgttgccatccttgagatgaaccttttaagaaaaataagttaatctcaatttttccctgaatgtgttgtttttcttcattatacaataaatataatagtgaactttttatcaaatggtgaagacaatgctaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:4205 -> Molecular function: GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] evidence: IDA
            GeneID:4205 -> Molecular function: GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: IDA
            GeneID:4205 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IEA
            GeneID:4205 -> Molecular function: GO:0001085 [RNA polymerase II transcription factor binding] evidence: IPI
            GeneID:4205 -> Molecular function: GO:0001105 [RNA polymerase II transcription coactivator activity] evidence: IDA
            GeneID:4205 -> Molecular function: GO:0003682 [chromatin binding] evidence: IDA
            GeneID:4205 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
            GeneID:4205 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:4205 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:4205 -> Molecular function: GO:0019901 [protein kinase binding] evidence: IEA
            GeneID:4205 -> Molecular function: GO:0033613 [activating transcription factor binding] evidence: IPI
            GeneID:4205 -> Molecular function: GO:0035035 [histone acetyltransferase binding] evidence: IPI
            GeneID:4205 -> Molecular function: GO:0042826 [histone deacetylase binding] evidence: IPI
            GeneID:4205 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA
            GeneID:4205 -> Molecular function: GO:0046332 [SMAD binding] evidence: IPI
            GeneID:4205 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IPI
            GeneID:4205 -> Biological process: GO:0000002 [mitochondrial genome maintenance] evidence: ISS
            GeneID:4205 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:4205 -> Biological process: GO:0000165 [MAPK cascade] evidence: IDA
            GeneID:4205 -> Biological process: GO:0002224 [toll-like receptor signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0002755 [MyD88-dependent toll-like receptor signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0002756 [MyD88-independent toll-like receptor signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IDA
            GeneID:4205 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:4205 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:4205 -> Biological process: GO:0007507 [heart development] evidence: IEP
            GeneID:4205 -> Biological process: GO:0007517 [muscle organ development] evidence: NAS
            GeneID:4205 -> Biological process: GO:0034134 [toll-like receptor 2 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0034138 [toll-like receptor 3 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0034142 [toll-like receptor 4 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0034146 [toll-like receptor 5 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0034162 [toll-like receptor 9 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0034166 [toll-like receptor 10 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0035666 [TRIF-dependent toll-like receptor signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0038123 [toll-like receptor TLR1:TLR2 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0038124 [toll-like receptor TLR6:TLR2 signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0042692 [muscle cell differentiation] evidence: TAS
            GeneID:4205 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
            GeneID:4205 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:4205 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
            GeneID:4205 -> Biological process: GO:0048311 [mitochondrion distribution] evidence: ISS
            GeneID:4205 -> Biological process: GO:0048813 [dendrite morphogenesis] evidence: ISS
            GeneID:4205 -> Biological process: GO:0051149 [positive regulation of muscle cell differentiation] evidence: TAS
            GeneID:4205 -> Biological process: GO:0051403 [stress-activated MAPK cascade] evidence: TAS
            GeneID:4205 -> Biological process: GO:0055005 [ventricular cardiac myofibril assembly] evidence: ISS
            GeneID:4205 -> Biological process: GO:0061337 [cardiac conduction] evidence: ISS
            GeneID:4205 -> Biological process: GO:0070375 [ERK5 cascade] evidence: IMP
            GeneID:4205 -> Biological process: GO:0071277 [cellular response to calcium ion] evidence: IDA
            GeneID:4205 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: ISS
            GeneID:4205 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:4205 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.