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145741 C2CD4A

145741

C2CD4A

C2 calcium dependent domain containing 4A

protein-coding

Homo sapiens

基因描述

Type Description
Definition C2 calcium dependent domain containing 4A

研究结论

Date Results Publications
2020-04-04 12:12:00 C2CD4A is a transcriptional coregulator of the glycolytic pathway whose dysfunction accounts for the diabetes susceptibility associated with the chromosome 15 GWAS locus. 31527256
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
2017-03-22 10:11:00 C2CD4A expression is significantly upregulated in human masticatory mucosa during wound healing 28005267
2013-05-18 11:02:00 An endoplasmic reticulum protein, NLF-1, delivers a sodium leak channel critical for rhythmic locomotion. 23522043

名称对应

Type IDs
Synonymous FAM148A, NLF1
Gene
UniProtKB-ID: C2C4A_HUMAN
UniprotKB: Q8NCU7
UniParc: UPI0000140CF2
EMBL: AC104590, AF504646
Ensembl: ENSG00000198535
KO: hsa:145741
Nucleutide sequences
EMBL-CDS: AAM28197.1
Ensembl_TRS: ENST00000355522
Protein sequencees
Ensembl_PRO: ENSP00000347712
RefSeq: NP_997205.2
Others
UniRef100: UniRef100_Q8NCU7
UniRef90: UniRef90_Q8NCU7
UniRef50: UniRef50_A6NLJ0
UniGene: Hs.202656
CCDS: CCDS32258.1

全选

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研究热度

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