C2CD4C Gene
C2CD4C: C2 Calcium Dependent Domain Containing 4C
Gene Information Card
| Symbol | C2CD4C |
|---|---|
| Full Name | C2 calcium dependent domain containing 4C |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 126567 ncbi.nlm.nih.gov/gene/126567 |
| Ensembl ID | ENSG00000185737 |
| UniProt ID | Q8N4S0 |
| OMIM ID | 615699 |
| HGNC ID | 33792 |
| Aliases | C2CD4C, FLJ39616, C2 domain-containing protein 4C |
Description
C2CD4C (C2 Calcium Dependent Domain Containing 4C) is a protein-coding gene located on chromosome 19q13.33. The encoded protein contains a C2 domain, which is often involved in calcium-dependent phospholipid binding and membrane targeting. C2CD4C is expressed in various tissues and may play a role in cellular signaling and vesicle trafficking. Limited functional characterization is available; further research is needed to elucidate its precise biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.1 | Low |
| Adrenal gland | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| K562 | 0.5 | Not detected |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • cytoplasm (GO:0005737) |
Protein Summary
The C2CD4C protein (UniProt Q8N4S0) is 244 amino acids long and contains a single C2 domain. C2 domains are known to bind phospholipids in a calcium-dependent manner, suggesting a role in membrane trafficking or signal transduction. The protein is predicted to be cytoplasmic. No crystal structure is available, and functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD4C Knockout HEK293 Cell Line | EDJ-KQ8148 | Human | 126567 | Details Get a Quote |
| C2CD4C Knockout HCT 116 Cell Line | EDJ-KQ35280 | Human | 126567 | Details Get a Quote |
| C2CD4C Knockout HeLa Cell Line | EDJ-KQ58180 | Human | 126567 | Details Get a Quote |
| C2CD4C Knockout A-549 Cell Line | EDJ-KQ66670 | Human | 126567 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
