C2CD4B (C2 calcium dependent domain containing 4B)

2016-10-01  

Identity

HGNC
C2CD4B
LOCATION
15q22.2
LOCUSID
388125
ALIAS
FAM148B,NLF2

Other Information

Locus ID:

NCBI: 388125
MIM: 610344
HGNC: 33628
Ensembl: ENSG00000205502

Variants:

dbSNP: 388125
ClinVar: 388125
TCGA: ENSG00000205502
COSMIC: C2CD4B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205502ENST00000380392A6NLJ0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
368347152023Selective Transcription Factor Blockade Reduces Human Retinal Endothelial Cell Expression of Intercellular Adhesion Molecule-1 and Leukocyte Binding.3
368347152023Selective Transcription Factor Blockade Reduces Human Retinal Endothelial Cell Expression of Intercellular Adhesion Molecule-1 and Leukocyte Binding.3
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
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
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
228850672012NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment.4
228850672012NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment.4
200818582010New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.1200
201858072010Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.124
204194492010Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people.54
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.31
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

C2CD4B (C2 calcium dependent domain containing 4B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56365/css/lib/js/lib/bootstrap.min.js