SGCE

Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.^[5][6][7]

SGCE
Identifiers
Aliases	SGCE, DYT11, ESG, sarcoglycan epsilon, epsilon-SG
External IDs	OMIM: 604149; MGI: 1329042; HomoloGene: 31205; GeneCards: SGCE; OMA:SGCE - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q21.3 Start 94,524,204 bp[1] End 94,656,572 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 A1|6 1.81 cM Start 4,674,350 bp[2] End 4,747,207 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii left ovary right ovary Achilles tendon left adrenal gland left adrenal cortex tibial nerve Descending thoracic aorta right adrenal gland ascending aorta Top expressed in sciatic nerve iris white adipose tissue umbilical cord carotid body adrenal gland vestibular sensory epithelium right lung lobe efferent ductule epididymis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm integral component of membrane plasma membrane Golgi apparatus dendrite sarcolemma integral component of plasma membrane dystrophin-associated glycoprotein complex sarcoglycan complex cell projection cytoskeleton dendrite membrane membrane Biological process muscle organ development cell-matrix adhesion muscle system process membrane organization skeletal muscle tissue development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8910 20392 Ensembl ENSG00000127990 ENSMUSG00000004631 UniProt O43556 O70258 RefSeq (mRNA) NM_001099400 NM_001099401 NM_001301139 NM_003919 NM_001346713 NM_001346715 NM_001346717 NM_001346719 NM_001346720 NM_001362807 NM_001362808 NM_001362809 NM_001130188 NM_001130189 NM_001130190 NM_001130191 NM_011360 RefSeq (protein) NP_001092870 NP_001092871 NP_001288068 NP_001333642 NP_001333644 NP_001333646 NP_001333648 NP_001333649 NP_003910 NP_001349736 NP_001349737 NP_001349738 NP_001123660 NP_001123661 NP_001123662 NP_001123663 NP_035490 Location (UCSC) Chr 7: 94.52 – 94.66 Mb Chr 6: 4.67 – 4.75 Mb PubMed search [3] [4]
Wikidata
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The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM].^[7]

Clinical significance

Mutations in the SGCE gene are known to cause Myoclonic dystonia (DTY11).^[8]