This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
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:
0
Overall
Tissue specific
Functional class:
Kinase (protein kinase)
JensenLab PubMed score:
4.49 (Percentile rank: 25.41%)
PubTator score:
2.67 (Percentile rank: 20.46%)
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
