CC2D2A
Coiled-coil and C2 domain-containing protein 2A
Protein Summary
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
- ENST00000424120
- ENSP00000403465
- ENSG00000048342
- ENST00000438599
- ENSP00000401154
- ENST00000503292
- ENSP00000421809
- ENST00000503658
- ENSP00000426846
- ENST00000507954
- ENSP00000427221
- ENST00000515124
- ENSP00000424368
- KIAA1345
- MKS6
- JBTS9
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
phenotype | 0.73 | ||
cellular component | 0.71 | ||
histone modification site profile | 0.68 | ||
cell type or tissue | 0.54 | ||
tissue sample | 0.53 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 33.28 (req: < 5)
Gene RIFs: 19 (req: <= 3)
Antibodies: 23 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 33.28 (req: >= 5)
Gene RIFs: 19 (req: > 3)
Antibodies: 23 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0