The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.42
Recurrently deleted in 2 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.05
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
8
Fusions detected in 6 cancer type(s)
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
692.34 (Percentile rank: 93.15%)
PubTator score:
373.96 (Percentile rank: 91.34%)
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
