Harmonizome 3.0

sarcoglycan, epsilon

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]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term sgce in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for SGCE from the Pathway Commons Protein-Protein Interactions dataset.

From CORUM Protein Complexes

proteins in the UTM-SGCE-DAG1-CAV1-NOS3 complex protein complex from the CORUM Protein Complexes dataset.