Harmonizome 3.0

sarcoglycan, epsilon, pseudogene

sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]

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]

sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]

sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

sarcoglycan, zeta

The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sarcoglycan alphaepsilon protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the sarcoglycan complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the sarcoglycan complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From CORUM Protein Complexes

proteins in the Sarcoglycan-sarcospan complex SG-SPN protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Skeletal muscle sarcoglycan complex SGC, beta-gamma-delta-zeta protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Skeletal muscle sarcoglycan complex SGC, epsilon-beta-gamma-delta protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Sarcoglycan-sarcospan-complex SG-SPN protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Sarcoglycan-sarcospan-dystroglycan complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Dystrophin-sarcoglycan-syntrophin complex, skeletal muscle protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Sarcoglycan-sarcospan-syntrophin-dystrobrevin complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Smooth muscle sarcoglycan complex SGC, beta-delta-zeta protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Skeletal muscle sarcoglycan complex SGC, alpha-beta-gamma-delta protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Skeletal muscle sarcoglycan complex SGC, alpha-beta-epsilon-gamma protein complex from the CORUM Protein Complexes dataset.

From GeneRIF Biological Term Annotations

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

From GO Cellular Component Annotations 2015

proteins localized to the sarcoglycan complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Delta-sarcoglycan protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Beta-sarcoglycan protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alpha-sarcoglycan protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zeta-sarcoglycan protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gamma-sarcoglycan protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sarcoglycan complex subunit protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GO Cellular Component Annotations 2023

proteins localized to the sarcoglycan complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

From GO Cellular Component Annotations 2025

proteins localized to the sarcoglycan complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Sarcoglycan complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Sarcoglycan complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of delta-sarcoglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of beta-sarcoglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.