The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.43
Recurrently deleted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
12 (Driver)
Fusions detected in 9 cancer type(s)
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
36.61 (Percentile rank: 57.37%)
PubTator score:
22.90 (Percentile rank: 54.64%)
Target development/druggability level:
TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
Tractability (small molecule):
N/A
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
