C2CD3
C2 Calcium Dependent Domain Containing 3
Gene Information Card
| Symbol | C2CD3 |
|---|---|
| Full Name | C2 Calcium Dependent Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 26005 ncbi.nlm.nih.gov/gene/26005 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q4AC94 |
| OMIM ID | 615948 |
| HGNC ID | 24564 |
| Aliases | C2CD3, C2 domain-containing protein 3, FLJ10842, KIAA1866 |
Description
C2CD3 encodes a protein containing a C2 calcium-dependent domain that is essential for primary cilium formation. It localizes to the centrosome and is required for centriole elongation and ciliogenesis. Mutations in C2CD3 cause Joubert syndrome and orofaciodigital syndrome, highlighting its critical role in ciliary function and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 17 | Loss-of-function mutations impair ciliogenesis, leading to cerebellar and brainstem malformations | OMIM #615948 |
| Orofaciodigital syndrome XIV | Disrupted ciliary signaling due to C2CD3 deficiency causes facial, oral, and digital anomalies | OMIM #615948 |
| Ciliopathy-related phenotypes | Defective primary cilium assembly results in renal, retinal, and skeletal abnormalities | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Kidney | 6.1 | Low |
| Lung | 5.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells |
| HeLa | 10.2 | Cervical cancer cells |
| A549 | 7.5 | Lung carcinoma cells |
| HepG2 | 4.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function, truncation |
| c.2567_2568del (p.Gln856Argfs*3) | Frameshift | Rare | Loss of function, premature stop |
| c.3451G>A (p.Gly1151Arg) | Missense | Rare | Likely damaging, disrupts C2 domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, impairing ciliogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • C2 calcium-dependent phospholipid binding | • centrosome |
| • cilium assembly | • cell projection organization |
| • calcium ion binding |
Pathways
• Ciliogenesis
• Hedgehog signaling pathway
Protein Summary
C2CD3 is a 2276-amino acid protein with a C2 domain that binds calcium and phospholipids. It localizes to the centrosome and is essential for centriole elongation and primary cilium formation. The protein interacts with other ciliopathy-associated proteins and is required for normal Hedgehog signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C2CD3 Knockout HEK293 Cell Line | EDJ-KQ8351 | Human | 26005 | Details Get a Quote |
| C2CD3 Knockout A-549 Cell Line | EDJ-KQ34370 | Human | 26005 | Details Get a Quote |
| C2CD3 Knockout HCT 116 Cell Line | EDJ-KQ34371 | Human | 26005 | Details Get a Quote |
| C2CD3 Knockout HeLa Cell Line | EDJ-KQ34372 | Human | 26005 | Details Get a Quote |
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