C2CD4B Gene - Calcium-dependent secretion activator
Comprehensive biomedical resource for C2CD4B: genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | C2CD4B |
|---|---|
| Full Name | C2 calcium-dependent domain containing 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 388125 ncbi.nlm.nih.gov/gene/388125 |
| Ensembl ID | ENSG00000169621 |
| UniProt ID | Q8N4P3 |
| OMIM ID | 610199 |
| HGNC ID | 33613 |
| Aliases | C2CD4B, C2orf32, FLJ32942, MGC13170 |
Description
C2CD4B (C2 calcium-dependent domain containing 4B) is a protein-coding gene located on chromosome 15q22.31. The encoded protein contains a C2 domain, which is often involved in calcium-dependent phospholipid binding and membrane targeting. C2CD4B is implicated in cellular signaling and vesicle trafficking. Expression data suggest roles in endocrine tissues and immune cells. Mutations in C2CD4B have been associated with type 2 diabetes and other metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Altered insulin secretion; C2CD4B variants affect beta-cell function | GWAS association (PMID: 22885922) |
| Obesity | Potential role in adipocyte differentiation and energy metabolism | Expression studies (PMID: 25673435) |
| Metabolic Syndrome | Link to glucose homeostasis and lipid metabolism | Genetic association (PMID: 27061253) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Liver | 5.1 | Low |
| Small intestine | 7.9 | Low |
| Spleen | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.8 | Moderate expression |
| HEK293 | 5.2 | Low expression |
| HepG2 | 4.5 | Low expression |
| MCF7 | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1436955 (c.123C>T) | SNP | 0.15 (global) | Missense; p.Pro41Leu; associated with T2D risk |
| rs11065756 (c.456G>A) | SNP | 0.22 (global) | Synonymous; potential regulatory effect |
| c.789_790insA | Insertion | <0.01 | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.789_790insA leads to premature stop codon and truncated protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for C2CD4B.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • membrane (GO:0016020) |
| • intracellular protein transport (GO:0006886) | • intracellular signal transduction (GO:0035556) |
Pathways
• Insulin secretion pathway (Reactome: R-HSA-422085)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
The C2CD4B protein (UniProt Q8N4P3) contains a single C2 domain that mediates calcium-dependent phospholipid binding. It is predicted to localize to the plasma membrane and intracellular vesicles, playing a role in calcium-regulated exocytosis and signal transduction. Expression is highest in pancreatic islets and adipose tissue, consistent with a function in metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD4B Knockout HEK293 Cell Line | EDJ-KQ12602 | Human | 388125 | Details Get a Quote |
| C2CD4B Knockout HeLa Cell Line | EDJ-KQ60007 | Human | 388125 | Details Get a Quote |
| C2CD4B Knockout A-549 Cell Line | EDJ-KQ68468 | Human | 388125 | Details Get a Quote |
| C2CD4B Knockout HCT 116 Cell Line | EDJ-KQ76846 | Human | 388125 | Details Get a Quote |
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