This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
Overall distribution
Tissue specific distribution
Expression restricted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.00
Overall distribution
Tissue specific distribution
Mscore:
0.22 (Driver)
Recurrently mutated in 2 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
NA
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
1420.92 (Percentile rank: 96.90%)
PubTator score:
1692.38 (Percentile rank: 97.93%)
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):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
