C2CD4A (C2 calcium dependent domain containing 4A)

2016-10-01  

Identity

HGNC
C2CD4A
LOCATION
15q22.2
LOCUSID
145741
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
352128422022C2CD4A/B variants in the predisposition of lung cancer in the Chinese Han population.1
352128422022C2CD4A/B variants in the predisposition of lung cancer in the Chinese Han population.1
315272562019Identification of C2CD4A as a human diabetes susceptibility gene with a role in β cell insulin secretion.23
315272562019Identification of C2CD4A as a human diabetes susceptibility gene with a role in β cell insulin secretion.23
296250242018A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.27
296250242018A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.27
280052672017Human gingiva transcriptome during wound healing.14
280052672017Human gingiva transcriptome during wound healing.14
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.12
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.12
235220432013NLF-1 delivers a sodium leak channel to regulate neuronal excitability and modulate rhythmic locomotion.50
235220432013NLF-1 delivers a sodium leak channel to regulate neuronal excitability and modulate rhythmic locomotion.50
208183812010A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.127
208183812010A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.127
208183812010A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.127

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/haematological-explorer/teaching-explorer/welcome