CC2D2A Gene - Coiled-Coil and C2 Domain Containing 2A
Essential for ciliary function and associated with Joubert syndrome and Meckel syndrome
Gene Information Card
| Symbol | CC2D2A |
|---|---|
| Full Name | Coiled-Coil and C2 Domain Containing 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.32 |
| NCBI Gene ID | 57545 ncbi.nlm.nih.gov/gene/57545 |
| Ensembl ID | ENSG00000148341 |
| UniProt ID | Q9P2K8 |
| OMIM ID | 612013 |
| HGNC ID | 29253 |
| Aliases | JBTS9, MKS6, C4orf26, FLJ20313 |
Description
CC2D2A encodes a coiled-coil and C2 domain-containing protein that localizes to the ciliary transition zone and is essential for ciliogenesis and ciliary signaling. Mutations in this gene cause Joubert syndrome 9 and Meckel syndrome 6, both severe ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 9 | Disruption of ciliary transition zone integrity leads to impaired ciliary signaling and cerebellar vermis hypoplasia | OMIM #612285 |
| Meckel syndrome 6 | Loss of CC2D2A function disrupts ciliary assembly, causing neural tube defects, renal cysts, and polydactyly | OMIM #612284 |
| COACH syndrome | Ciliary dysfunction due to CC2D2A mutations results in cerebellar vermis aplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis | OMIM #216360 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 6.1 | Low |
| Testis | 15.3 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Moderate expression |
| HeLa | 8.9 | Low expression |
| SH-SY5Y | 14.2 | Moderate expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2671C>T (p.Arg891*) | Nonsense | Rare | Premature stop, loss of function |
| c.3652C>T (p.Arg1218*) | Nonsense | Rare | Premature stop, loss of function |
| c.1936G>A (p.Gly646Arg) | Missense | Rare | Impaired ciliary localization |
| c.4384C>T (p.Arg1462Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, resulting in ciliary dysfunction.
Gain of Function (GOF)
Not reported for CC2D2A.
Dominant Negative (DN)
Not reported for CC2D2A.
View complete mutation data：
Gene Ontology (GO)
| • ciliary transition zone | • ciliogenesis |
| • protein binding | • cilium assembly |
| • cell projection organization |
Pathways
• Ciliopathy pathway
• Hedgehog signaling pathway (ciliary dependent)
Protein Summary
CC2D2A is a 1620-amino acid protein containing an N-terminal coiled-coil domain and a C-terminal C2 domain. It localizes to the ciliary transition zone and interacts with other ciliopathy proteins such as CEP290 and TMEM67 to regulate ciliary membrane composition and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CC2D2A Knockout HEK293 Cell Line | EDJ-KQ12747 | Human | 57545 | Details Get a Quote |
| CC2D2A Knockout A-549 Cell Line | EDJ-KQ41850 | Human | 57545 | Details Get a Quote |
| CC2D2A Knockout HCT 116 Cell Line | EDJ-KQ41851 | Human | 57545 | Details Get a Quote |
| CC2D2A Knockout HeLa Cell Line | EDJ-KQ41852 | Human | 57545 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
