C2CD4A Gene - C2 Calcium Dependent Domain Containing 4A
Comprehensive genomic and functional analysis of C2CD4A, a calcium-dependent lipid-binding protein implicated in type 2 diabetes and inflammatory signaling.
Gene Information Card
| Symbol | C2CD4A |
|---|---|
| Full Name | C2 calcium dependent domain containing 4A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 145741 ncbi.nlm.nih.gov/gene/145741 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8NCU7 |
| OMIM ID | 610400 |
| HGNC ID | 25425 |
| Aliases | C2CD4A, C2orf29, FLJ20254, NL1 |
Description
C2CD4A (C2 calcium dependent domain containing 4A) is a protein-coding gene located on chromosome 15q22.31. It encodes a protein containing a C2 domain, which is involved in calcium-dependent phospholipid binding and membrane targeting. C2CD4A is implicated in glucose homeostasis and type 2 diabetes risk, with expression enriched in pancreatic islets and immune cells. The gene is also known as C2orf29 and NL1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Risk variants (e.g., rs11065756) in C2CD4A are associated with impaired insulin secretion and increased T2D susceptibility via altered calcium signaling in pancreatic beta cells. | GWAS (PMID: 20081858, 24509480) |
| Inflammatory Bowel Disease | C2CD4A expression is upregulated in inflamed intestinal mucosa; may modulate calcium-dependent inflammatory pathways. | Expression studies (PMID: 26168268) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 5.1 | Low |
| Whole Blood | 3.2 | Low |
| Small Intestine | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.8 | Moderate expression |
| K562 | 4.2 | Low expression |
| HEK293 | 5.5 | Low expression |
| HepG2 | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11065756 (intronic) | SNV | 0.25 (East Asian) | Risk allele for T2D; associated with reduced C2CD4A expression in islets |
| rs143793106 (missense) | SNV | <0.01 | p.Arg87Cys; predicted damaging by SIFT/PolyPhen; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding | • membrane targeting |
| • C2 domain | • regulation of insulin secretion |
Pathways
• Calcium signaling pathway
• Type 2 diabetes
Protein Summary
The C2CD4A protein (UniProt Q8NCU7) contains a single C2 domain that binds calcium and phospholipids, facilitating membrane association. It is predominantly expressed in pancreatic islets and immune tissues, where it may regulate calcium-dependent exocytosis and inflammatory responses. The protein is 244 amino acids long with a molecular weight of ~27 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD4A Knockout HEK293 Cell Line | EDJ-KQ10451 | Human | 145741 | Details Get a Quote |
| C2CD4A Knockout HeLa Cell Line | EDJ-KQ58525 | Human | 145741 | Details Get a Quote |
| C2CD4A Knockout A-549 Cell Line | EDJ-KQ67016 | Human | 145741 | Details Get a Quote |
| C2CD4A Knockout HCT 116 Cell Line | EDJ-KQ75416 | Human | 145741 | Details Get a Quote |
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