Protein Summary
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
- ENST00000265735
- ENSP00000265735
- ENSG00000127990
- ENST00000445866
- ENSP00000398930
- ENST00000642933
- ENSP00000496237
- ENST00000648936
- ENSP00000497130
- ESG
- ESG
- DYT11
- epsilon-SG
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
PubMedID | 0.97 | ||
kinase perturbation | 0.95 | ||
histone modification site profile | 0.84 | ||
gene perturbation | 0.79 | ||
cell type or tissue | 0.78 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 259.21 (req: < 5)
Gene RIFs: 72 (req: <= 3)
Antibodies: 128 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 259.21 (req: >= 5)
Gene RIFs: 72 (req: > 3)
Antibodies: 128 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 3
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0