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2024-03-28 20:53:14, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_000165               3130 bp    mRNA    linear   PRI 15-JUL-2013
DEFINITION  Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.
ACCESSION   NM_000165
VERSION     NM_000165.3  GI:122939163
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 3130)
  AUTHORS   Kim,M.S., Gloor,G.B. and Bai,D.
  TITLE     The distribution and functional properties of
            Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on
            Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions
  JOURNAL   Biochem. J. 452 (2), 249-258 (2013)
   PUBMED   23544880
  REMARK    GeneRIF: Most of the Pelizaeus-Merzbacher-like disease
            (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 gap
            junction function in the glial network, which may play a role in
            leading to PMLD disease symptoms
REFERENCE   2  (bases 1 to 3130)
  AUTHORS   Chang,H.M., Cheng,J.C. and Leung,P.C.
  TITLE     Theca-derived BMP4 and BMP7 down-regulate connexin43 expression and
            decrease gap junction intercellular communication activity in
            immortalized human granulosa cells
  JOURNAL   J. Clin. Endocrinol. Metab. 98 (3), E437-E445 (2013)
   PUBMED   23386650
  REMARK    GeneRIF: Theca cell-derived BMP4 and BMP7 down-regulate Cx43
            expression and decrease gap junction cell communication activity in
            human granulosa cells.
REFERENCE   3  (bases 1 to 3130)
  AUTHORS   Deo,R., Nalls,M.A., Avery,C.L., Smith,J.G., Evans,D.S.,
            Keller,M.F., Butler,A.M., Buxbaum,S.G., Li,G., Miguel Quibrera,P.,
            Smith,E.N., Tanaka,T., Akylbekova,E.L., Alonso,A., Arking,D.E.,
            Benjamin,E.J., Berenson,G.S., Bis,J.C., Chen,L.Y., Chen,W.,
            Cummings,S.R., Ellinor,P.T., Evans,M.K., Ferrucci,L., Fox,E.R.,
            Heckbert,S.R., Heiss,G., Hsueh,W.C., Kerr,K.F., Limacher,M.C.,
            Liu,Y., Lubitz,S.A., Magnani,J.W., Mehra,R., Marcus,G.M.,
            Murray,S.S., Newman,A.B., Njajou,O., North,K.E., Paltoo,D.N.,
            Psaty,B.M., Redline,S.S., Reiner,A.P., Robinson,J.G., Rotter,J.I.,
            Samdarshi,T.E., Schnabel,R.B., Schork,N.J., Singleton,A.B.,
            Siscovick,D., Soliman,E.Z., Sotoodehnia,N., Srinivasan,S.R.,
            Taylor,H.A., Trevisan,M., Zhang,Z., Zonderman,A.B., Newton-Cheh,C.
            and Whitsel,E.A.
  TITLE     Common genetic variation near the connexin-43 gene is associated
            with resting heart rate in African Americans: a genome-wide
            association study of 13,372 participants
  JOURNAL   Heart Rhythm 10 (3), 401-408 (2013)
   PUBMED   23183192
REFERENCE   4  (bases 1 to 3130)
  AUTHORS   Wang,Y., Wang,K., Li,H., Chen,L., Xu,F. and Wu,T.
  TITLE     Effects of different sustained hydrostatic pressures on connexin 43
            in human bladder smooth muscle cells
  JOURNAL   Urol. Int. 90 (1), 75-82 (2013)
   PUBMED   23257890
  REMARK    GeneRIF: The expression of gap-junction Cx43 in bladder smooth
            muscle cells decreases under sustained hydrostatic pressures above
            the physiological level in the longer term.
REFERENCE   5  (bases 1 to 3130)
  AUTHORS   Severino,A., Narducci,M.L., Pedicino,D., Pazzano,V., Giglio,A.F.,
            Biasucci,L.M., Liuzzo,G., Casella,M., Bartoletti,S., Dello
            Russo,A., Pelargonio,G., Santangeli,P., Di Biase,L., Natale,A. and
            Crea,F.
  TITLE     Reversible atrial gap junction remodeling during
            hypoxia/reoxygenation and ischemia: a possible arrhythmogenic
            substrate for atrial fibrillation
  JOURNAL   Gen. Physiol. Biophys. 31 (4), 439-448 (2012)
   PUBMED   23255671
  REMARK    GeneRIF: Hypoxia and ischemia per se downregulate Cx43 protein
            expression in atrial cardiomyocytes.
REFERENCE   6  (bases 1 to 3130)
  AUTHORS   Britz-Cunningham,S.H., Shah,M.M., Zuppan,C.W. and Fletcher,W.H.
  TITLE     Mutations of the Connexin43 gap-junction gene in patients with
            heart malformations and defects of laterality
  JOURNAL   N. Engl. J. Med. 332 (20), 1323-1329 (1995)
   PUBMED   7715640
REFERENCE   7  (bases 1 to 3130)
  AUTHORS   De Leon,J.R., Buttrick,P.M. and Fishman,G.I.
  TITLE     Functional analysis of the connexin43 gene promoter in vivo and in
            vitro
  JOURNAL   J. Mol. Cell. Cardiol. 26 (3), 379-389 (1994)
   PUBMED   8028021
REFERENCE   8  (bases 1 to 3130)
  AUTHORS   Fishman,G.I., Moreno,A.P., Spray,D.C. and Leinwand,L.A.
  TITLE     Functional analysis of human cardiac gap junction channel mutants
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 88 (9), 3525-3529 (1991)
   PUBMED   1850831
REFERENCE   9  (bases 1 to 3130)
  AUTHORS   Fishman,G.I., Eddy,R.L., Shows,T.B., Rosenthal,L. and Leinwand,L.A.
  TITLE     The human connexin gene family of gap junction proteins: distinct
            chromosomal locations but similar structures
  JOURNAL   Genomics 10 (1), 250-256 (1991)
   PUBMED   1646158
REFERENCE   10 (bases 1 to 3130)
  AUTHORS   Fishman,G.I., Spray,D.C. and Leinwand,L.A.
  TITLE     Molecular characterization and functional expression of the human
            cardiac gap junction channel
  JOURNAL   J. Cell Biol. 111 (2), 589-598 (1990)
   PUBMED   1696265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139098.15 and X52947.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 18, 2007 this sequence version replaced gi:4755136.
            
            Summary: This gene is a member of the connexin gene family. The
            encoded protein is a component of gap junctions, which are composed
            of arrays of intercellular channels that provide a route for the
            diffusion of low molecular weight materials from cell to cell. The
            encoded protein is the major protein of gap junctions in the heart
            that are thought to have a crucial role in the synchronized
            contraction of the heart and in embryonic development. A related
            intronless pseudogene has been mapped to chromosome 5. Mutations in
            this gene have been associated with oculodentodigital dysplasia and
            heart malformations. [provided by RefSeq, Jul 2008].
            
            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 :: X52947.1, BC026329.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                AL139098.15        101757-101849
            94-2172             X52947.1           1-2079
            2173-3130           AL139098.15        114928-115885
FEATURES             Location/Qualifiers
     source          1..3130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.31"
     gene            1..3130
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /note="gap junction protein, alpha 1, 43kDa"
                     /db_xref="GeneID:2697"
                     /db_xref="HGNC:4274"
                     /db_xref="HPRD:00414"
                     /db_xref="MIM:121014"
     exon            1..234
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /inference="alignment:Splign:1.39.8"
     variation       85
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:201864842"
     variation       109
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185966088"
     variation       141
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190869601"
     variation       180
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200606693"
     variation       184
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111581053"
     misc_feature    224..226
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /note="upstream in-frame stop codon"
     exon            235..3130
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /inference="alignment:Splign:1.39.8"
     variation       238
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370799274"
     CDS             251..1399
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /note="connexin 43; gap junction 43 kDa heart protein;
                     connexin-43"
                     /codon_start=1
                     /product="gap junction alpha-1 protein"
                     /protein_id="NP_000156.1"
                     /db_xref="GI:4504001"
                     /db_xref="CCDS:CCDS5123.1"
                     /db_xref="GeneID:2697"
                     /db_xref="HGNC:4274"
                     /db_xref="HPRD:00414"
                     /db_xref="MIM:121014"
                     /translation="
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI
"
     misc_feature    257..553
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /note="Connexin; Region: Connexin; pfam00029"
                     /db_xref="CDD:143818"
     misc_feature    290..358
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    479..547
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    713..781
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    743..943
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /note="Gap junction channel protein cysteine-rich domain;
                     Region: Connexin_CCC; smart01089"
                     /db_xref="CDD:198157"
     misc_feature    875..943
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P17302.2);
                     transmembrane region"
     misc_feature    989..991
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01819"
     misc_feature    1013..1015
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P17302.2); phosphorylation site"
     misc_feature    1013..1015
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01496"
     misc_feature    1013..1015
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03479"
     misc_feature    1013..1015
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03952"
     misc_feature    1034..1036
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P17302.2); phosphorylation site"
     misc_feature    1043..1045
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01819"
     misc_feature    1085..1087
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03479"
     misc_feature    1094..1096
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01496"
     misc_feature    1094..1096
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03479"
     misc_feature    1094..1096
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:03952"
     misc_feature    1127..1186
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /note="Gap junction alpha-1 protein (Cx43); Region:
                     Connexin43; pfam03508"
                     /db_xref="CDD:146251"
     misc_feature    1166..1168
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P17302.2); phosphorylation site"
     misc_feature    1187..1189
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1190..1192
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P17302.2); phosphorylation site"
     misc_feature    1223..1225
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by CK1; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1223..1225
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:02920"
     misc_feature    1232..1234
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by CK1; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1232..1234
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:02920"
     misc_feature    1238..1240
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by CK1; propagated from
                     UniProtKB/Swiss-Prot (P17302.2); phosphorylation site"
     misc_feature    1238..1240
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:02920"
     misc_feature    1280..1282
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P17302.2); phosphorylation site"
     misc_feature    1343..1345
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1352..1354
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01498"
     misc_feature    1352..1354
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01499"
     misc_feature    1352..1354
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01502"
     misc_feature    1355..1357
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1367..1369
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     variation       268
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200520137"
     variation       281
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:387906616"
     variation       282
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121912969"
     variation       300
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:104893961"
     variation       302
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:104893962"
     variation       311
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104893963"
     variation       315
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104893964"
     variation       347
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121912970"
     variation       355
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147811981"
     variation       439
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139688042"
     variation       453
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374218530"
     variation       476
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:267606845"
     variation       477
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:267606844"
     variation       517
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72548740"
     variation       536
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28931601"
     variation       577
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145279962"
     variation       661
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201088822"
     variation       677
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28931600"
     variation       682
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201994305"
     variation       706
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72548741"
     variation       719
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79357545"
     STS             750..1000
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /standard_name="PMC170950P8"
                     /db_xref="UniSTS:271626"
     variation       751
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369139298"
     variation       752
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111717577"
     variation       758
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377077470"
     variation       777
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370071579"
     variation       781
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377427187"
     variation       818
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369064392"
     variation       831
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:104893966"
     variation       907
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147637926"
     variation       956
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148384161"
     variation       962
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:143026885"
     variation       967
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:57946868"
     variation       968
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140144121"
     variation       969
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:145367364"
     variation       974
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138386744"
     variation       983
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367628979"
     variation       996
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:192870757"
     variation       1004
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372983194"
     variation       1008
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17653265"
     variation       1015
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:138941844"
     variation       1018
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55796648"
     variation       1034
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149442143"
     STS             1057..1389
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /standard_name="PMC151788P1"
                     /db_xref="UniSTS:271174"
     variation       1064
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376074787"
     variation       1087
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:67407537"
     variation       1135
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370436837"
     variation       1202
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:143898957"
     variation       1241
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:66916792"
     variation       1282
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:17852395"
     variation       1289
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:184583316"
     variation       1300
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147277470"
     variation       1335
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2227885"
     variation       1348
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372862876"
     variation       1377
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:104893965"
     variation       1378
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145215218"
     variation       1401..1402
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:67678923"
     variation       1488
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:67721882"
     variation       1518
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:72548742"
     STS             1541..1872
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /standard_name="WI-6988"
                     /db_xref="UniSTS:20556"
     variation       1553
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72548743"
     variation       1564
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138314962"
     variation       1566..1567
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:36054859"
     variation       1572
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72548744"
     STS             1583..1757
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /standard_name="GJA1"
                     /db_xref="UniSTS:479912"
     variation       1640
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72548745"
     variation       1642
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139128953"
     variation       1670
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:72548746"
     variation       1671
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72548747"
     variation       1684
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:72548748"
     variation       1700
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:72548749"
     variation       1752
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:45516992"
     variation       1771
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:113758463"
     variation       2084
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:183624872"
     variation       2162..2163
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34370179"
     variation       2319
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:367780883"
     STS             2351..2411
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /standard_name="RH27497"
                     /db_xref="UniSTS:90137"
     variation       2367
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111878880"
     variation       2412..2413
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace=""
                     /replace="tt"
                     /db_xref="dbSNP:375943953"
     variation       2420
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:74968349"
     variation       2721
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:12212865"
     variation       2898
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34127088"
     variation       2899
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1049349"
     variation       3003
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11541536"
     variation       3085
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111485072"
     polyA_signal    3103..3108
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
     variation       3106
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374104162"
     polyA_site      3130
                     /gene="GJA1"
                     /gene_synonym="AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS;
                     ODDD"
ORIGIN      
gagtcagtggcttgaaacttttaaaagctctgtgctccaagttacaaaaaagcttttacgaggtatcagcacttttctttcattagggggaaggcgtgaggaaagtaccaaacagcagcggagttttaaactttaaatagacaggtctgagtgcctgaacttgccttttcattttacttcatcctccaaggagttcaatcacttggcgtgacttcactacttttaagcaaaagagtggtgcccaggcaacatgggtgactggagcgccttaggcaaactccttgacaaggttcaagcctactcaactgctggagggaaggtgtggctgtcagtacttttcattttccgaatcctgctgctggggacagcggttgagtcagcctggggagatgagcagtctgcctttcgttgtaacactcagcaacctggttgtgaaaatgtctgctatgacaagtctttcccaatctctcatgtgcgcttctgggtcctgcagatcatatttgtgtctgtacccacactcttgtacctggctcatgtgttctatgtgatgcgaaaggaagagaaactgaacaagaaagaggaagaactcaaggttgcccaaactgatggtgtcaatgtggacatgcacttgaagcagattgagataaagaagttcaagtacggtattgaagagcatggtaaggtgaaaatgcgaggggggttgctgcgaacctacatcatcagtatcctcttcaagtctatctttgaggtggccttcttgctgatccagtggtacatctatggattcagcttgagtgctgtttacacttgcaaaagagatccctgcccacatcaggtggactgtttcctctctcgccccacggagaaaaccatcttcatcatcttcatgctggtggtgtccttggtgtccctggccttgaatatcattgaactcttctatgttttcttcaagggcgttaaggatcgggttaagggaaagagcgacccttaccatgcgaccagtggtgcgctgagccctgccaaagactgtgggtctcaaaaatatgcttatttcaatggctgctcctcaccaaccgctcccctctcgcctatgtctcctcctgggtacaagctggttactggcgacagaaacaattcttcttgccgcaattacaacaagcaagcaagtgagcaaaactgggctaattacagtgcagaacaaaatcgaatggggcaggcgggaagcaccatctctaactcccatgcacagccttttgatttccccgatgataaccagaattctaaaaaactagctgctggacatgaattacagccactagccattgtggaccagcgaccttcaagcagagccagcagtcgtgccagcagcagacctcggcctgatgacctggagatctagatacaggcttgaaagcatcaagattccactcaattgtggagaagaaaaaaggtgctgtagaaagtgcaccaggtgttaattttgatccggtggaggtggtactcaacagccttattcatgaggcttagaaaacacaaagacattagaatacctaggttcactgggggtgtatggggtagatgggtggagagggaggggataagagaggtgcatgttggtatttaaagtagtggattcaaagaacttagattataaataagagttccattaggtgatacatagataagggctttttctccccgcaaacacccctaagaatggttctgtgtatgtgaatgagcgggtggtaattgtggctaaatatttttgttttaccaagaaactgaaataattctggccaggaataaatacttcctgaacatcttaggtcttttcaacaagaaaaagacagaggattgtccttaagtccctgctaaaacattccattgttaaaatttgcactttgaaggtaagctttctaggcctgaccctccaggtgtcaatggacttgtgctactatatttttttattcttggtatcagtttaaaattcagacaaggcccacagaataagattttccatgcatttgcaaatacgtatattctttttccatccacttgcacaatatcattaccatcactttttcatcattcctcagctactactcacattcatttaatggtttctgtaaacatttttaagacagttgggatgtcacttaacattttttttttgagctaaagtcagggaatcaagccatgcttaatatttaacaatcacttatatgtgtgtcgaagagtttgttttgtttgtcatgtattggtacaagcagatacagtataaactcacaaacacagatttgaaaataatgcacatatggtgttcaaatttgaacctttctcatggatttttgtggtgtgggccaatatggtgtttacattatataattcctgctgtggcaagtaaagcacactttttttttctcctaaaatgtttttccctgtgtatcctattatggatactggttttgttaattatgattctttattttctctcctttttttaggatatagcagtaatgctattactgaaatgaatttcctttttctgaaatgtaatcattgatgcttgaatgatagaattttagtactgtaaacaggctttagtcattaatgtgagagacttagaaaaaatgcttagagtggactattaaatgtgcctaaatgaattttgcagtaactggtattcttgggttttcctacttaatacacagtaattcagaacttgtattctattatgagtttagcagtcttttggagtgaccagcaactttgatgtttgcactaagattttatttggaatgcaagagaggttgaaagaggattcagtagtacacatacaactaatttatttgaactatatgttgaagacatctaccagtttctccaaatgccttttttaaaactcatcacagaagattggtgaaaatgctgagtatgacacttttcttcttgcatgcatgtcagctacataaacagttttgtacaatgaaaattactaatttgtttgacattccatgttaaactacggtcatgttcagcttcattgcatgtaatgtagacctagtccatcagatcatgtgttctggagagtgttctttattcaataaagttttaatttagtataaacata
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2697 -> Molecular function: GO:0004871 [signal transducer activity] evidence: IMP
            GeneID:2697 -> Molecular function: GO:0005102 [receptor binding] evidence: IEA
            GeneID:2697 -> Molecular function: GO:0005243 [gap junction channel activity] evidence: IDA
            GeneID:2697 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:2697 -> Molecular function: GO:0015075 [ion transmembrane transporter activity] evidence: TAS
            GeneID:2697 -> Molecular function: GO:0017124 [SH3 domain binding] evidence: IEA
            GeneID:2697 -> Molecular function: GO:0030165 [PDZ domain binding] evidence: IEA
            GeneID:2697 -> Molecular function: GO:0048487 [beta-tubulin binding] evidence: IEA
            GeneID:2697 -> Molecular function: GO:0097110 [scaffold protein binding] evidence: IEA
            GeneID:2697 -> Biological process: GO:0001649 [osteoblast differentiation] evidence: IEA
            GeneID:2697 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
            GeneID:2697 -> Biological process: GO:0001764 [neuron migration] evidence: IEA
            GeneID:2697 -> Biological process: GO:0001947 [heart looping] evidence: IEA
            GeneID:2697 -> Biological process: GO:0002070 [epithelial cell maturation] evidence: IEA
            GeneID:2697 -> Biological process: GO:0002088 [lens development in camera-type eye] evidence: IEA
            GeneID:2697 -> Biological process: GO:0003294 [atrial ventricular junction remodeling] evidence: IEA
            GeneID:2697 -> Biological process: GO:0006810 [transport] evidence: TAS
            GeneID:2697 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:2697 -> Biological process: GO:0006936 [muscle contraction] evidence: TAS
            GeneID:2697 -> Biological process: GO:0007165 [signal transduction] evidence: IMP
            GeneID:2697 -> Biological process: GO:0007267 [cell-cell signaling] evidence: TAS
            GeneID:2697 -> Biological process: GO:0007507 [heart development] evidence: TAS
            GeneID:2697 -> Biological process: GO:0007512 [adult heart development] evidence: IEA
            GeneID:2697 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA
            GeneID:2697 -> Biological process: GO:0009268 [response to pH] evidence: IEA
            GeneID:2697 -> Biological process: GO:0010232 [vascular transport] evidence: IEA
            GeneID:2697 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IEA
            GeneID:2697 -> Biological process: GO:0010629 [negative regulation of gene expression] evidence: IEA
            GeneID:2697 -> Biological process: GO:0010643 [cell communication by chemical coupling] evidence: IEA
            GeneID:2697 -> Biological process: GO:0010644 [cell communication by electrical coupling] evidence: IDA
            GeneID:2697 -> Biological process: GO:0015867 [ATP transport] evidence: IEA
            GeneID:2697 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
            GeneID:2697 -> Biological process: GO:0016264 [gap junction assembly] evidence: TAS
            GeneID:2697 -> Biological process: GO:0030500 [regulation of bone mineralization] evidence: IEA
            GeneID:2697 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP
            GeneID:2697 -> Biological process: GO:0043403 [skeletal muscle tissue regeneration] evidence: IEA
            GeneID:2697 -> Biological process: GO:0043434 [response to peptide hormone stimulus] evidence: IEA
            GeneID:2697 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IEA
            GeneID:2697 -> Biological process: GO:0045844 [positive regulation of striated muscle tissue development] evidence: IEA
            GeneID:2697 -> Biological process: GO:0046850 [regulation of bone remodeling] evidence: IEA
            GeneID:2697 -> Biological process: GO:0048514 [blood vessel morphogenesis] evidence: IEA
            GeneID:2697 -> Biological process: GO:0048812 [neuron projection morphogenesis] evidence: IEA
            GeneID:2697 -> Biological process: GO:0051259 [protein oligomerization] evidence: IEA
            GeneID:2697 -> Biological process: GO:0051924 [regulation of calcium ion transport] evidence: IEA
            GeneID:2697 -> Biological process: GO:0060156 [milk ejection] evidence: IEA
            GeneID:2697 -> Biological process: GO:0060174 [limb bud formation] evidence: IEA
            GeneID:2697 -> Biological process: GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization] evidence: IEA
            GeneID:2697 -> Biological process: GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization] evidence: IEA
            GeneID:2697 -> Biological process: GO:0060373 [regulation of ventricular cardiac muscle cell membrane depolarization] evidence: IEA
            GeneID:2697 -> Biological process: GO:0086014 [regulation of atrial cardiac muscle cell action potential] evidence: TAS
            GeneID:2697 -> Biological process: GO:2000810 [regulation of tight junction assembly] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0000139 [Golgi membrane] evidence: TAS
            GeneID:2697 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005764 [lysosome] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005769 [early endosome] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005771 [multivesicular body] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
            GeneID:2697 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: ISS
            GeneID:2697 -> Cellular component: GO:0005829 [cytosol] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005882 [intermediate filament] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005886 [plasma membrane] evidence: ISS
            GeneID:2697 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:2697 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS
            GeneID:2697 -> Cellular component: GO:0005916 [fascia adherens] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0005921 [gap junction] evidence: IDA
            GeneID:2697 -> Cellular component: GO:0005921 [gap junction] evidence: ISS
            GeneID:2697 -> Cellular component: GO:0005922 [connexon complex] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0014704 [intercalated disc] evidence: IDA
            GeneID:2697 -> Cellular component: GO:0014704 [intercalated disc] evidence: ISS
            GeneID:2697 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0016328 [lateral plasma membrane] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0030660 [Golgi-associated vesicle membrane] evidence: TAS
            GeneID:2697 -> Cellular component: GO:0043292 [contractile fiber] evidence: IEA
            GeneID:2697 -> Cellular component: GO:0045121 [membrane raft] evidence: ISS

by @meso_cacase at DBCLS
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