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55784 MCTP2

55784

MCTP2

multiple C2 and transmembrane domain containing 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition multiple C2 and transmembrane domain containing 2

研究结论

Date Results Publications
2014-05-03 10:52:00 Results identify MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations. 23773997
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules 15528213
2010-01-21 00:00:00 The present study suggested that MCPT2 gene as aputative susceptibility gene for schizophrenia of Scandinavian origin. 19223264
2009-03-25 21:36:00 Observational study of gene-disease association. (HuGE Navigator) 19223264

名称对应

Type IDs
Gene
UniProtKB-ID: MCTP2_HUMAN
UniprotKB: Q6DN12
UniParc: UPI0001CE935E, UPI000006CF74, UPI0000D613A2, UPI0000F05984, UPI000007076C
EMBL: AY656717, AC103749, AC135626, FJ515839, AK001953, BC025708, BC041387, BC111024, AK002037, BC131527
Ensembl: ENSG00000140563
KO: hsa:55784
Nucleutide sequences
EMBL-CDS: AAI31528.1, ACS13732.1, AAT73060.1, AAH25708.1, BAA91998.1, AAI11025.1, BAA92048.1, AAH41387.1, ACS13731.1
Ensembl_TRS: ENST00000557742, ENST00000357742, ENST00000451018, ENST00000456504
Protein sequencees
Ensembl_PRO: ENSP00000395109, ENSP00000388887, ENSP00000350377, ENSP00000454847
RefSeq: XP_011520077.1, NP_060819.3, XP_011520076.1, NP_001371935.1, NP_001371930.1, XP_005255017.1, NP_001371936.1, NP_001371931.1, NP_001371938.1, NP_001371937.1, XP_024305750.1, XP_016877894.1, NP_001371933.1, NP_001371932.1, NP_001153115.1, NP_001371934.1, NP_001153116.1, XP_016877893.1, NP_001371940.1, NP_001371939.1, XP_016877892.1
Others
UniRef100: UniRef100_Q6DN12
UniRef90: UniRef90_Q6DN12
UniRef50: UniRef50_Q6DN12
UniGene: Hs.33368
CCDS: CCDS32338.1, CCDS53976.1, CCDS53975.1

全选

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