C2CD5
C2 Calcium-Dependent Domain Containing 5
Gene Information Card
| Symbol | C2CD5 |
|---|---|
| Full Name | C2 calcium-dependent domain containing 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 9847 ncbi.nlm.nih.gov/gene/9847 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q86YS7 |
| OMIM ID | 618038 |
| HGNC ID | 18526 |
| Aliases | CDP138, KIAA0528, C2CD5L |
Description
C2CD5 encodes a protein containing a C2 calcium-dependent domain, involved in calcium-regulated membrane trafficking and vesicle fusion. The gene is located on chromosome 12p13.31 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Low |
| Liver | 3.1 | Low |
| Kidney | 5.0 | Low |
| Testis | 12.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.8 | Moderate expression |
| HeLa | 5.4 | Low expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • membrane trafficking |
| • vesicle-mediated transport |
Pathways
• No specific pathway annotations in Reactome or KEGG
Protein Summary
The C2CD5 protein (UniProt Q86YS7) contains a C2 domain that binds calcium, suggesting a role in calcium-dependent membrane interactions. It is predicted to be involved in intracellular vesicle trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD5 Knockout HEK293 Cell Line | EDJ-KQ6775 | Human | 9847 | Details Get a Quote |
| C2CD5 Knockout A-549 Cell Line | EDJ-KQ31229 | Human | 9847 | Details Get a Quote |
| C2CD5 Knockout HCT 116 Cell Line | EDJ-KQ31230 | Human | 9847 | Details Get a Quote |
| C2CD5 Knockout HeLa Cell Line | EDJ-KQ31231 | Human | 9847 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
