This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.13
Gscore (Del):
0.14
Recurrently amplified in 1 cancer type(s)
Recurrently deleted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
2
Fusions detected in 2 cancer type(s)
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
3.40 (Percentile rank: 21.98%)
PubTator score:
4.86 (Percentile rank: 28.22%)
Target development/druggability level:
TdarkThese are targets about which virtually nothing is known. They do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy two or more of the following criteria: 1) A PubMed text-mining score from Jensen Lab < 5; 2) <= 3 Gene RIFs; 3) <= 50 Antibodies available according to http://antibodypedia.com.
