This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.59
Recurrently deleted in 2 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.01
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
NA
Overall
Tissue specific
CRISPR: COMMON ESSENTIAL RNAi: STRONGLY SELECTIVE
Functional class:
Enzyme
JensenLab PubMed score:
470.08 (Percentile rank: 90.40%)
PubTator score:
2137.58 (Percentile rank: 98.46%)
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):
Predicted TractableTargets with a predicted Ro5 druggable domain (druggable genome); Targets with a drugEBIlity score equal or greater than 0
