C2CD4A (C2 calcium dependent domain containing 4A)

2016-10-01  

Identity

HGNC
LOCATION
15q22.2
LOCUSID
ALIAS
FAM148A,NLF1

Other Information

Locus ID:

NCBI: 145741
MIM: 610343
HGNC: 33627
Ensembl: ENSG00000198535

Variants:

dbSNP: 145741
ClinVar: 145741
TCGA: ENSG00000198535
COSMIC: C2CD4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198535ENST00000355522Q8NCU7

Expression (GTEx)

0
5
10
15

References

Pubmed IDYearTitleCitations
208183812010A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.108
208183812010A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.108
155279682004A novel gene family induced by acute inflammation in endothelial cells.29
235220432013NLF-1 delivers a sodium leak channel to regulate neuronal excitability and modulate rhythmic locomotion.27
296250242018A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.9
280052672017Human gingiva transcriptome during wound healing.6
273298002016Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.5
315272562019Identification of C2CD4A as a human diabetes susceptibility gene with a role in β cell insulin secretion.1

Citation

Dessen P

C2CD4A (C2 calcium dependent domain containing 4A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56095/c2cd4a-(c2-calcium-dependent-domain-containing-4a)