SGCE sarcoglycan, epsilon [Homo sapiens (human)]
| Gene Symbol | SGCE |
| Entrez Gene ID | 8910 |
| Full Name | sarcoglycan, epsilon |
| Synonyms | DYT11, ESG |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
7 7q21.3 |
| Summary | 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. |
| Disorder | MIM: 604149 Dystonia-11, myoclonic, 159900 (3) |
| mRNA | NM_003919, 150378491 |
| Protein | NP_003910, 10835047 |
| Product | epsilon-sarcoglycan isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001099401, 150378453 |
| Protein | NP_001092871, 150378454 |
| Product | epsilon-sarcoglycan isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001099400, 150378534 |
| Protein | NP_001092870, 150378535 |
| Product | epsilon-sarcoglycan isoform 3 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | SGCE | NP_003910.1 |
| Pan troglodytes (chimpanzee) | SGCE | XP_001169140.1 |
| Canis lupus familiaris (dog) | SGCE | XP_532465.2 |
| Bos taurus (cattle) | SGCE | NP_001068613.1 |
| Mus musculus (house mouse) | Sgce | NP_035490.2 |
| Gallus gallus (chicken) | SGCE | XP_418667.2 |
| Danio rerio (zebrafish) | sgce | NP_001002594.1 |
| ID | Name | Evidence |
| GO:0007160 | cell-matrix adhesion | TAS |
| GO:0007517 | muscle organ development | TAS |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IEA |
| GO:0005856 | cytoskeleton | IEA |
| GO:0005887 | integral to plasma membrane | TAS |
| GO:0016010 | dystrophin-associated glycoprotein complex | IDA |
| GO:0016012 | sarcoglycan complex | IEA |
| GO:0042383 | sarcolemma | IEA |
Function
| ID | Name | Evidence |
| GO:0005509 | calcium ion binding | IEA |
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