C2CD2
C2 Calcium-Dependent Domain Containing 2
Gene Information Card
| Symbol | C2CD2 |
|---|---|
| Full Name | C2 Calcium-Dependent Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 25966 ncbi.nlm.nih.gov/gene/25966 |
| Ensembl ID | ENSG00000160213 |
| UniProt ID | Q9Y3S1 |
| OMIM ID | 613207 |
| HGNC ID | 24532 |
| Aliases | C2CD2A, FLJ20035, MGC138290 |
Description
C2CD2 encodes a protein containing a C2 calcium-dependent domain, which is typically involved in membrane targeting and calcium signaling. The protein is localized to the endoplasmic reticulum and may play a role in lipid transport or calcium-mediated processes. Its exact biological function remains under investigation, but it is evolutionarily conserved and expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | C2CD2 mutations are associated with autosomal recessive retinitis pigmentosa, likely due to disruption of photoreceptor cell function or calcium homeostasis. | ClinVar, OMIM |
| Cone-rod dystrophy | Similar pathogenic mechanism as retinitis pigmentosa, affecting photoreceptor survival and function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Retina | 15.0 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| ARPE-19 | 14.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.1465G>A (p.Gly489Arg) | Missense | Rare | Likely damaging; reported in cone-rod dystrophy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in C2CD2 lead to truncated protein and loss of function, associated with retinal degeneration.
Gain of Function (GOF)
No evidence of gain-of-function mutations in C2CD2.
Dominant Negative (DN)
No evidence of dominant-negative effects for C2CD2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • membrane |
| • endoplasmic reticulum | • C2 domain |
Pathways
• Calcium signaling pathway
• Photoreceptor cell maintenance
Protein Summary
The C2CD2 protein (UniProt Q9Y3S1) contains a C2 domain that binds calcium and phospholipids, suggesting involvement in membrane trafficking or signal transduction. It is predicted to be an integral membrane protein of the endoplasmic reticulum. Structural studies indicate a conserved fold typical of C2 domains, but the full-length protein's function remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD2L Knockout HEK293 Cell Line | EDJ-KQ6782 | Human | 9854 | Details Get a Quote |
| C2CD2 Knockout HEK293 Cell Line | EDJ-KQ8325 | Human | 25966 | Details Get a Quote |
| C2CD2 Knockout HeLa Cell Line | EDJ-KQ32999 | Human | 25966 | Details Get a Quote |
| C2CD2L Knockout A-549 Cell Line | EDJ-KQ29892 | Human | 9854 | Details Get a Quote |
| C2CD2L Knockout HCT 116 Cell Line | EDJ-KQ31248 | Human | 9854 | Details Get a Quote |
| C2CD2L Knockout HeLa Cell Line | EDJ-KQ31249 | Human | 9854 | Details Get a Quote |
| C2CD2 Knockout A-549 Cell Line | EDJ-KQ34321 | Human | 25966 | Details Get a Quote |
| C2CD2 Knockout HCT 116 Cell Line | EDJ-KQ34322 | Human | 25966 | Details Get a Quote |
