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2024-04-20 05:32:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001143943 3772 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript
variant 2, mRNA.
ACCESSION NM_001143943
VERSION NM_001143943.1 GI:221316728
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 3772)
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
DB286332.1, AK302883.1 and AB209286.1.
Transcript Variant: This variant (2) differs in the 5' UTR and uses
an alternate 3' exon, compared to variant 1, that results in a
frameshift. This results in a shorter isoform (b) with a distinct
C-terminus, compared to isoform a.
##Evidence-Data-START##
Transcript exon combination :: AK302883.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025083 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-57 DB286332.1 3-59
58-623 AK302883.1 1-566
624-3772 AB209286.1 632-3780
FEATURES Location/Qualifiers
source 1..3772
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q44"
gene 1..3772
/gene="EFCAB2"
/note="EF-hand calcium binding domain 2"
/db_xref="GeneID:84288"
/db_xref="HGNC:28166"
exon 1..115
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
misc_feature 22..24
/gene="EFCAB2"
/note="upstream in-frame stop codon"
variation 32
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:61844237"
CDS 91..492
/gene="EFCAB2"
/note="isoform b is encoded by transcript variant 2;
EF-hand calcium-binding domain-containing protein 2"
/codon_start=1
/product="EF-hand calcium-binding domain-containing
protein 2 isoform b"
/protein_id="NP_001137415.1"
/db_xref="GI:221316729"
/db_xref="CCDS:CCDS44341.1"
/db_xref="GeneID:84288"
/db_xref="HGNC:28166"
/translation="
MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDGVSLRRPG
"
misc_feature 142..333
/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(169..171,175..177,181..183,202..204,277..279,
283..285,292..294,313..315)
/gene="EFCAB2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28933"
variation 105
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370582638"
variation 106
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201927564"
exon 116..200
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
variation 127
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144878367"
variation 196
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:151181303"
exon 201..273
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
variation 216
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368137710"
variation 240
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:76034141"
variation 242
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:74616990"
variation 243
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138478256"
variation 253
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:146907907"
exon 274..353
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
variation 283
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375113841"
variation 291
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:10927387"
variation 309
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142888002"
variation 323
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:7551261"
exon 354..396
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
variation 382
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11541381"
variation 385
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:149676779"
variation 386
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145465501"
exon 397..463
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
variation 410
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:368983163"
variation 435
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373412586"
variation 448
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200554796"
variation 459
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369597079"
exon 464..3772
/gene="EFCAB2"
/inference="alignment:Splign:1.39.8"
variation 472
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:190072426"
variation 473
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141386246"
variation 481
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193063986"
variation 482
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:115556370"
STS 487..678
/gene="EFCAB2"
/standard_name="D1S1361"
/db_xref="UniSTS:149557"
variation 514
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143904642"
variation 517
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145811898"
variation 545
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:10927398"
STS 546..634
/gene="EFCAB2"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 616..724
/gene="EFCAB2"
/standard_name="D11S3114"
/db_xref="UniSTS:152207"
variation 631
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:185684280"
variation 632
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:41305562"
variation 643..644
/gene="EFCAB2"
/replace=""
/replace="tgt"
/replace="tgttggccaggc"
/db_xref="dbSNP:368090980"
variation 646
/gene="EFCAB2"
/replace=""
/replace="ggccagg"
/db_xref="dbSNP:373396616"
variation 652..654
/gene="EFCAB2"
/replace=""
/replace="tga"
/db_xref="dbSNP:201171474"
variation 659
/gene="EFCAB2"
/replace=""
/replace="a"
/db_xref="dbSNP:375962668"
variation 694
/gene="EFCAB2"
/replace="g"
/replace="t"
/db_xref="dbSNP:190605466"
variation 706
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148015871"
variation 710
/gene="EFCAB2"
/replace="g"
/replace="t"
/db_xref="dbSNP:370360675"
variation 751
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113046671"
variation 814
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:373541665"
variation 1087
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374265352"
variation 1221
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142090222"
variation 1304
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:181021109"
variation 1337
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:78779197"
STS 1357..1528
/gene="EFCAB2"
/standard_name="SHGC-76623"
/db_xref="UniSTS:6708"
variation 1452
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145732949"
variation 1460
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:79878108"
variation 1517
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371124035"
variation 1555
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:4658701"
variation 1601
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185091891"
variation 1632
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:7520200"
variation 1716
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:114142382"
variation 1719
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:114400338"
variation 1741
/gene="EFCAB2"
/replace="g"
/replace="t"
/db_xref="dbSNP:138661068"
variation 1822
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:187992294"
variation 1835
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142887825"
variation 1854
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:181256172"
variation 1894
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:80256961"
variation 1911
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147019975"
variation 1924
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:367891784"
variation 1998
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138024843"
variation 2002
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149517507"
variation 2041
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367599098"
variation 2072
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186414998"
variation 2086
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:144060845"
variation 2149
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148524782"
variation 2199
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142862259"
variation 2217
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146046386"
variation 2220
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:191709019"
variation 2221..2222
/gene="EFCAB2"
/replace=""
/replace="t"
/db_xref="dbSNP:34921749"
variation 2228
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:181779324"
variation 2296
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:113346437"
variation 2338
/gene="EFCAB2"
/replace="a"
/replace="c"
/db_xref="dbSNP:375965209"
variation 2372
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112404729"
variation 2402
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:113254444"
variation 2415
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139348640"
variation 2419
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:187397899"
variation 2449..2450
/gene="EFCAB2"
/replace=""
/replace="at"
/db_xref="dbSNP:113565574"
variation 2454..2455
/gene="EFCAB2"
/replace=""
/replace="ta"
/db_xref="dbSNP:71683275"
variation 2509
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:114927989"
variation 2666
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:111806462"
variation 2716
/gene="EFCAB2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:12125365"
variation 2749
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113753800"
variation 2750
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:12117676"
variation 2806
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111320109"
variation 2834
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:10803267"
variation 2847
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113267665"
variation 2873
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:191041134"
variation 2895
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145905528"
variation 2914
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:147768586"
variation 2934
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:116173775"
variation 2935
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:73123030"
variation 2955
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141160097"
variation 2960
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143591662"
variation 3015
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:148052969"
variation 3019
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:183228992"
variation 3048
/gene="EFCAB2"
/replace="g"
/replace="t"
/db_xref="dbSNP:113535512"
variation 3049
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186835210"
variation 3100
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150129497"
variation 3267..3268
/gene="EFCAB2"
/replace=""
/replace="c"
/db_xref="dbSNP:376113065"
variation 3273
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:189734770"
variation 3283
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:115868098"
variation 3303
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1140879"
variation 3333
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112707726"
variation 3347
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200763851"
variation 3357
/gene="EFCAB2"
/replace="c"
/replace="g"
/db_xref="dbSNP:12734969"
variation 3395
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142850256"
variation 3481
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:945953"
variation 3564
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146103758"
variation 3573
/gene="EFCAB2"
/replace="c"
/replace="t"
/db_xref="dbSNP:78006028"
variation 3682
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:61736927"
variation 3705
/gene="EFCAB2"
/replace="g"
/replace="t"
/db_xref="dbSNP:182775806"
variation 3713
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370408914"
variation 3735
/gene="EFCAB2"
/replace="a"
/replace="g"
/db_xref="dbSNP:6672147"
variation 3770
/gene="EFCAB2"
/replace="a"
/replace="t"
/db_xref="dbSNP:112959595"
ORIGIN
gccaggctcgccgcggggcgctgagcaggccgggacaccgcggccgaggttatcgttaggcatctcccaggcgaccggctccgcagcaagatggcggacgagaaggacagggaagagataatagtagcagaatttcacaaaaaaatcaaagaggcatttgaagtctttgaccatgagtcgaataatacagtggatgtgagagagattggaacaattatcaggtcattaggatgctgtcctacggaaggagagctgcatgatctgattgcagaggtagaggaagaagaacccactggatacattcgattcgaaaaatttcttccggtgatgacagaaatactactagaaagaaaatacagaccaattccagaagatgtccttcttcgagcttttgaggttttagattcagctaaacgtgggtttcttactaaggacgagctgatcaagtatatgactgaagaagatggagtttcgctccgtcgcccaggctgaagtgcagtggcgtgatcttggctcgttgcaacctccacctcccgggttcaagagattctcctgcctcagcctcctgagcagctgggatgacaggcacacaccaccacgcctggctaatttctgtatttttagtagagacggggtttcaccatggtctggtgacctcctggtctcgaactcctgacctcaagtgatcctcccgcctcagcctcccaaagttctgggattacaggcatgagccaccgcacccggctgcttccttaactcttgatctcctctctgtatcttgctttgtctagctgttctcttctctccatattcatccaaacatttgcttagaagtacccagaagcatggcgttgaatgtggtacaccttgaacgaagggtgaagaaacgaggcagagtgacttagtagcaagtgacagcacacagtttaaattttaatattagcccatttacaaacaacagcttatataatagtcattcacatacctcaacactcaccatcccctccccactttttttctggagacagggtttcactgtcaccccagctggaatgcaggtggcatgatcacagctcactgtagcatcgacctcctggactcaaggggtcctcgcgcctcagcctcctgagtagctgggaccacaggtgcatgccaccacgcccagctaatgtttttttttattttttgtagagacagggtctggctatgttgcttaggctggtctcaaactcctgggttcaagcgatcctgccacctcagcctcccaaagtgttaggattacagatgtgagccactgtgcccagccaacattcaccccattcaagtgtgcaattcaatggattctagtatcttcacagtgctgtgcaactatcactcctatctacttacaaagcatttccatcatcttaaaaagaatccccatgtccaatagcagttccccttcccccaccgtcatcctcgggcaaccgctaatcttcctgtgtgtctgtggatttgcctcttcagggcatttcacataaacacaatcatacaatatgtggccttctgtgtctggcttctttcatttagtgtaaggcttttgaggttcatccatgttgtaatgtatatccttagttcattcttttttgttaagctcacaaataaaaagcctcactttttatttgaggcaaggagactggctacagggattacagttccagcagtcaaaacgcaactccaagtggcactatttggaccgtaggttttgcttcattttggctggaaaagggtattcaggatgtacttctcccagccggacaagaaaaagggcaaagaaaactggaagagacgtctcgtctacacaaactgctctttggacacagcatcaacctgaccacacccgtgctggccagtctgcaggttgctgacccgccgttaagggacacaggccatactacacttgctagaaaaactgaggcaggaaaaagaggtgcaaggcactgggggaagagcaggtacctatagctttaaagctcagtgttgaaggggtaatccttgcaggaggcacagctcaccaagacacagaccctcccgttcctgttgtagctgactacagtggtcacatcaggctgctcagttgaaagtcgaagtcctccaagttttcagcagtgcgttccagcatcaccaccgaaatgatgataggaattaccaccaaattcctatgcatgggaaaccagatcagaacctgggctgcgtttttatttgtttattttttttactgtgcttggctgtgattgctttggtgctgggatcccccagacctgtcacgagagctgaggggactacaggcagtcaccaccttgcctttggattggcagccctggattaacttctcctgaggtgggtgcaggtggcactcactgtggttaaccactgtttttaagccaggtttctttttttctgtctgtcatatatatatatatatatttagagacagggtctcactctatcactcaggcctggagtgtagtggcatgatcataactcactgcagcctcgagttcctgggctcaagtgatcctcccgccttggcctcccaaagtgctgggattacaggctgagacaccacacctggtcttaagccaggtttctttaccatctcttggagatggctgcagttggagattccaaaagctttcagagcccttcatccaccagctcctccatgtggccacccatgtgacatgaagttggtgtcactaggtaccacgttgtctgtcccatccaacaggaaaaatagcctgttggccagtgaataaggtaggaatccaggtggtcccctgagggtcttctgacaggctcctttatcaggctcttctcatggtatgagcaccgcagcttgctgacagtggcaacgttctcaagcttcacagactccgtcacttggcctggaggggaattctaggtgtccagccccaggacaggcattttggcaccatgattgagcacgatatggtgagccatcctcacaggattaagaagaattctggacagaaatatagttgtaagtaagcatcagtcagcctgcactttgacccacttccttgtaaccaacagtgacgtagcactaggtaacatttgcatccccgttgttcctatagatacaatttctgaccttagaatcacaaggcttttgtttaaaatagatgggatctctgacattagaatcataagatttttgtttaagacttgcttaagatgtttttcagatcctgaattccagcaaaacagccgacaccaaccagtttgaagacccccacagaggaatgtgatcagcatgaaaatacagcttcgtctccctctcccatgactccaccctgcacacttcgaccaatcaaccatctccacactccagtctccactcccaaacccttaaaaaccccagccccaaactcctcagggagatggatttgacgtttcctcccatttcctccttcggtggccctacgatgaaacctctttctctgctacaaccctatgcctcggcgtattcactttctggtcccatccagcgatggacccatcgtggttaccgtggctggccaagcctgctgtgcttcacagaccccactcaggatcacaccacttcgttccactgtttggagatgccatgtttgcttatcccttcatcagctgatgagcatttgtgctgttttcactttttggctattacgaaaatgttgctacgagcatccatgatattcgcccatttaaaaaagtgtttttcaccatt
//
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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