Protein Summary
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
- ENST00000409623
- ENSP00000386966
- ENSG00000164953
- ENST00000453321
- ENSP00000389998
- MKS3
- MKS3
- JBTS6
- NPHP11
- TNEM67
- MECKELIN
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
histone modification site profile | 0.92 | ||
phenotype | 0.87 | ||
virus perturbation | 0.76 | ||
cellular component | 0.74 | ||
cell line | 0.66 | ||
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: 54.07 (req: < 5)
Gene RIFs: 26 (req: <= 3)
Antibodies: 78 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 54.07 (req: >= 5)
Gene RIFs: 26 (req: > 3)
Antibodies: 78 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 6
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