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2020-10-24 06:59:40, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_032328               1240 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript
            variant 1, mRNA.
ACCESSION   NM_032328
VERSION     NM_032328.3  GI:221316720
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 1240)
  AUTHORS   Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R.
  TITLE     Personalized smoking cessation: interactions between nicotine dose,
            dependence and quit-success genotype score
  JOURNAL   Mol. Med. 16 (7-8), 247-253 (2010)
   PUBMED   20379614
  REMARK    GeneRIF: Clinical trial of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG701985.1, DB286332.1, BC005357.1, BQ438351.1, AW661993.1,
            AI038779.1 and AI796049.1.
            On Jan 24, 2009 this sequence version replaced gi:142369203.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG701985.1, BI546601.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-206               BG701985.1         5-210
            207-236             DB286332.1         34-63
            237-465             BC005357.1         1-229
            466-890             BQ438351.1         233-657
            891-1231            AW661993.1         2-342               c
            1232-1233           AI038779.1         11-12               c
            1234-1240           AI796049.1         1-7                 c
FEATURES             Location/Qualifiers
     source          1..1240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1240
                     /gene="EFCAB2"
                     /note="EF-hand calcium binding domain 2"
                     /db_xref="GeneID:84288"
                     /db_xref="HGNC:28166"
                     /db_xref="HPRD:14423"
     exon            1..175
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       9
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:191269150"
     exon            176..290
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    197..199
                     /gene="EFCAB2"
                     /note="upstream in-frame stop codon"
     variation       207
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61844237"
     CDS             266..754
                     /gene="EFCAB2"
                     /note="isoform a is encoded by transcript variant 1;
                     EF-hand calcium-binding domain-containing protein 2"
                     /codon_start=1
                     /product="EF-hand calcium-binding domain-containing
                     protein 2 isoform a"
                     /protein_id="NP_115704.1"
                     /db_xref="GI:14150108"
                     /db_xref="CCDS:CCDS31082.1"
                     /db_xref="GeneID:84288"
                     /db_xref="HGNC:28166"
                     /db_xref="HPRD:14423"
                     /translation="
MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN
"
     misc_feature    266..739
                     /gene="EFCAB2"
                     /note="calmodulin; Provisional; Region: PTZ00184"
                     /db_xref="CDD:185504"
     misc_feature    317..508
                     /gene="EFCAB2"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     Region: EFh; cd00051"
                     /db_xref="CDD:28933"
     misc_feature    order(344..346,350..352,356..358,377..379,452..454,
                     458..460,467..469,488..490)
                     /gene="EFCAB2"
                     /note="Ca2+ binding site [ion binding]; other site"
                     /db_xref="CDD:28933"
     misc_feature    554..736
                     /gene="EFCAB2"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     Region: EFh; cd00051"
                     /db_xref="CDD:28933"
     misc_feature    order(578..580,584..586,590..592,611..613,686..688,
                     692..694,698..700,719..721)
                     /gene="EFCAB2"
                     /note="Ca2+ binding site [ion binding]; other site"
                     /db_xref="CDD:28933"
     variation       280
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370582638"
     variation       281
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201927564"
     exon            291..375
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       302
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144878367"
     variation       371
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:151181303"
     exon            376..448
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       391
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368137710"
     variation       415
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76034141"
     variation       417
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:74616990"
     variation       418
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138478256"
     variation       428
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146907907"
     exon            449..528
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       458
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375113841"
     variation       466
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10927387"
     variation       484
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142888002"
     variation       498
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7551261"
     exon            529..571
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       557
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11541381"
     variation       560
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149676779"
     variation       561
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145465501"
     exon            572..638
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       585
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368983163"
     variation       610
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373412586"
     variation       623
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200554796"
     variation       634
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369597079"
     exon            639..1240
                     /gene="EFCAB2"
                     /inference="alignment:Splign:1.39.8"
     variation       640
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145154272"
     variation       658
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143381917"
     variation       671
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373870067"
     variation       687
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376666673"
     variation       705
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140441970"
     variation       720
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:371227790"
     variation       821
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:193059914"
     variation       873
                     /gene="EFCAB2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:374210387"
     variation       903
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185666051"
     variation       932
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376180721"
     variation       994
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138178645"
     variation       1040
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189265932"
     STS             1078..1198
                     /gene="EFCAB2"
                     /standard_name="SHGC-76625"
                     /db_xref="UniSTS:24025"
     variation       1081
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:181004324"
     variation       1112
                     /gene="EFCAB2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1047707"
     variation       1134
                     /gene="EFCAB2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75482772"
     variation       1155..1157
                     /gene="EFCAB2"
                     /replace=""
                     /replace="ctt"
                     /db_xref="dbSNP:375675536"
     variation       1188
                     /gene="EFCAB2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74445271"
     variation       1232
                     /gene="EFCAB2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:4658695"
ORIGIN      
gggaggcgggctgcgaatgggaagcgggaggaggaggccgggccgcgggctggttctatcacccccttgggagcccagctcttcacctagctctccggcgcttttcaaaatctgcagttaacaacaaaaatcgagcaacgccacgtcgcacaaacaggacaggagggggcgaggggccaggctcgccgcggggcgctgagcaggccgggacaccgcggccgaggttatcgttaggcatctcccaggcgaccggctccgcagcaagatggcggacgagaaggacagggaagagataatagtagcagaatttcacaaaaaaatcaaagaggcatttgaagtctttgaccatgagtcgaataatacagtggatgtgagagagattggaacaattatcaggtcattaggatgctgtcctacggaaggagagctgcatgatctgattgcagaggtagaggaagaagaacccactggatacattcgattcgaaaaatttcttccggtgatgacagaaatactactagaaagaaaatacagaccaattccagaagatgtccttcttcgagcttttgaggttttagattcagctaaacgtgggtttcttactaaggacgagctgatcaagtatatgactgaagaaggtgagcctttttctcaagaggaaatggaagaaatgttgtctgctgcaattgatccagaatcaaattcaattaattacaaggactatataacaatgatggtgatagatgaaaattaaatgttctaaagataatttctgattgaaagaacaattttagaaattgcttgttcttgttaatttcacatcttatcttaggattcctatatgtgatatttaataccttgtgacataactattttaagacactttgtttttaaagatgatcgtaacactttaaaccaaatttagtatgtctagccttacagaatgataaattactatttatttaaaaactattcttaaaacattttaacattagaatggattgttgtttattttctacaataaaactcaggtcaccttcgaattaattaagctgacaaaatgaaaatgacttaattacccaaggtttggcatgtaaagatcttaagagggggcagaacgaaccactcgaaaacgagtagcagtgtaatgaaggcttcttttttaaacaataacaaatgcttcatcaatctgagtgtggaaggtgatttatcaaaataaatattactaatttattttttt
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:84288 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA

by @meso_cacase at DBCLS
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