HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
C2CD4B
C2 calcium dependent domain containing 4B
Chromosome 15 · 15q22.2
NCBI Gene: 388125Ensembl: ENSG00000205502.5HGNC: HGNC:33628UniProt: A6NLJ0
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of vascular permeability involved in acute inflammatory responsepositive regulation of acute inflammatory responseregulation of cell adhesionnucleusneurodegenerative diseasehematologic diseasetype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

C2CD4B encodes a calcium-dependent domain-containing protein that plays multiple roles in glucose homeostasis and vascular function. The gene is strongly associated with type 2 diabetes risk and glucose regulation 12. Variants in the C2CD4B locus are linked to reduced glucose-stimulated beta cell function, with carriers showing decreased insulin release in response to glucose 3. The protein acts as a transcriptional regulator, with a risk allele variant increasing enhancer activity and C2CD4B expression in pancreatic islets, particularly under inflammatory conditions 4. Mouse studies reveal sexually dimorphic metabolic effects, with C2cd4b knockout females showing impaired glucose tolerance and defective insulin secretion, while males exhibit increased body weight and fasting glucose on high-fat diets 5. In vascular biology, C2CD4B induces endothelial dysfunction through a PI3K/Akt/PKCα signaling pathway, promoting oxidative stress and reducing nitric oxide bioavailability 6. The protein also regulates inflammatory responses in retinal endothelium by modulating ICAM-1 expression and leukocyte binding 7. Additionally, C2CD4B expression is upregulated in colorectal tumors and contributes to a prognostic signature in rectal cancer 8.

Sources cited
1
C2CD4B locus associated with fasting glucose homeostasis and type 2 diabetes risk
PMID: 20081858
2
C2CD4B variants linked to reduced glucose-stimulated beta cell function
PMID: 20819449
3
C2CD4B upregulated in colorectal cancer and part of rectal cancer prognostic signature
PMID: 40770356
4
C2cd4b knockout mice show sexually dimorphic metabolic effects
PMID: 33492421
5
C2CD4B causes vascular dysfunction via PI3K/Akt/PKCα pathway
PMID: 38247525
6
Risk variant increases C2CD4B expression in pancreatic islets
PMID: 29625024
7
C2CD4A-C2CD4B locus associated with type 2 diabetes susceptibility
PMID: 20818381
8
C2CD4B regulates ICAM-1 expression and leukocyte binding in retinal endothelium
PMID: 36834715
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.27Weak
hematologic diseaseOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.20Weak
type 2 diabetes nephropathyOpen Targets
0.16Weak
diabetic neuropathyOpen Targets
0.15Weak
ovarian neoplasmOpen Targets
0.14Weak
diabetic eye diseaseOpen Targets
0.13Weak
diabetic retinopathyOpen Targets
0.12Weak
Abruptio PlacentaeOpen Targets
0.12Weak
premature birthOpen Targets
0.08Suggestive
breast carcinomaOpen Targets
0.06Suggestive
Rh deficiency syndromeOpen Targets
0.06Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.05Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C2CD4AShared pathway80%RND1Protein interaction79%CYTIPShared pathway50%CBLL2Shared pathway50%CREB3L3Shared pathway33%LMO7Shared pathway25%
Tissue Expression6 tissues
Lung
100%
Liver
49%
Heart
45%
Ovary
17%
Brain
8%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
C2CD4BC2CD4ARND1CYTIPCBLL2CREB3L3LMO7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NLJ0
View on AlphaFold ↗
RankingsWhere C2CD4B stands among ~20K protein-coding genes
  • #14,113of 20,598
    Most Researched20
Genes detectedC2CD4B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
PMID: 20081858
Nat Genet · 2010
1.00
2
Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people.
PMID: 20419449
Diabetologia · 2010
0.90
3
Distinctive chromosomal, mutational and transcriptional profiling in colon versus rectal cancers.
PMID: 40770356
J Transl Med · 2025
0.80
4
Sexually dimorphic roles for the type 2 diabetes-associated C2cd4b gene in murine glucose homeostasis.
PMID: 33492421
Diabetologia · 2021
0.70
5
C2CD4B Evokes Oxidative Stress and Vascular Dysfunction via a PI3K/Akt/PKCα-Signaling Pathway.
PMID: 38247525
Antioxidants (Basel) · 2024
0.60