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2024-04-20 18:16:13, 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 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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