The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Overall distribution
Tissue specific distribution
Expression restricted in 3 cancer type(s)
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.00
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
4
Fusions detected in 4 cancer type(s)
Overall
Tissue specific
Functional class:
Transporter
JensenLab PubMed score:
44.09 (Percentile rank: 60.39%)
PubTator score:
16.12 (Percentile rank: 48.23%)
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):
Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
