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388125 C2CD4B

388125

C2CD4B

C2 calcium dependent domain containing 4B

protein-coding

Homo sapiens

基因描述

Type Description
Definition C2 calcium dependent domain containing 4B

研究结论

Date Results Publications
2018-12-22 11:21:00 rs7163757 contributes to genetic risk of islet dysfunction and type 2 diabetes by increasing NFAT-mediated islet enhancer activity and modulating C2CD4B, and possibly C2CD4A, expression in (patho)physiologic states. 29625024
2017-06-24 10:12:00 The present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved. 27329800
2012-11-17 10:24:00 Loss of NLF2 gene expression in the endometrium of patients with implantation failure after in vitro ertilization treatment. 22885067
2010-10-30 10:43:00 Single nucleotide polymorphism in C2CD4B is associated with type 2 diabetes. 20818381
2010-09-15 22:05:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20818381

名称对应

Type IDs
Synonymous FAM148B, NLF2
Gene
UniProtKB-ID: C2C4B_HUMAN
UniprotKB: A6NLJ0
UniParc: UPI0000161A38
EMBL: AC126323
Ensembl: ENSG00000205502
KO: hsa:388125
Nucleutide sequences
Ensembl_TRS: ENST00000380392
Protein sequencees
Ensembl_PRO: ENSP00000369755
RefSeq: XP_016877659.1, NP_001007596.2
Others
UniRef100: UniRef100_A6NLJ0
UniRef90: UniRef90_A6NLJ0
UniRef50: UniRef50_A6NLJ0
UniGene: Hs.144372
CCDS: CCDS32259.1

全选

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