This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.57
Gscore (Del):
0.00
Recurrently amplified in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.04
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
7
Fusions detected in 7 cancer type(s)
Overall
Tissue specific
Functional class:
Ion channel
JensenLab PubMed score:
319.19 (Percentile rank: 86.92%)
PubTator score:
33.43 (Percentile rank: 61.29%)
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
