This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
Overall distribution
Tissue specific distribution
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:
6
Fusions detected in 5 cancer type(s)
Overall
Tissue specific
Functional class:
Transporter
JensenLab PubMed score:
3.55 (Percentile rank: 22.55%)
PubTator score:
2.97 (Percentile rank: 21.67%)
Target development/druggability level:
TdarkThese are targets about which virtually nothing is known. They do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy two or more of the following criteria: 1) A PubMed text-mining score from Jensen Lab < 5; 2) <= 3 Gene RIFs; 3) <= 50 Antibodies available according to http://antibodypedia.com.
Tractability (small molecule):
N/A
Tractability (antibody):
Predicted Tractable - Medium to low confidenceTargets with GO cell component terms plasma membrane or secreted with low or unknown confidence; Targets with predicted signal peptide and transmembrane domains; GO cell component - medium confidence; Human Protein Atlas - high confidence
