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Tbio
CC2D2A
Coiled-coil and C2 domain-containing protein 2A

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000424120
  • ENSP00000403465
  • ENSG00000048342
  • ENST00000438599
  • ENSP00000401154
  • ENST00000503292
  • ENSP00000421809
  • ENST00000503658
  • ENSP00000426846
  • ENST00000507954
  • ENSP00000427221
  • ENST00000515124
  • ENSP00000424368

Symbol
  • KIAA1345
  • MKS6
  • JBTS9
Illumination Graph
Knowledge Table
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
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0