SGCE Gene: Epsilon-Sarcoglycan and Myoclonus-Dystonia
Comprehensive biomedical resource for SGCE (epsilon-sarcoglycan) – genetic variants, expression, and disease associations.
Gene Information Card
| Symbol | SGCE |
|---|---|
| Full Name | sarcoglycan epsilon |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 8910 ncbi.nlm.nih.gov/gene/8910 |
| Ensembl ID | ENSG00000127990 |
| UniProt ID | O43556 |
| OMIM ID | 604149 |
| HGNC ID | 10808 |
| Aliases | DYT11, ESG, SGCE1 |
Description
The SGCE gene encodes epsilon-sarcoglycan, a transmembrane glycoprotein component of the dystrophin-associated glycoprotein complex. It is involved in stabilizing muscle cell membranes and in neuronal signaling. Loss-of-function mutations in SGCE are the primary cause of myoclonus-dystonia syndrome (DYT11), an autosomal dominant movement disorder with reduced penetrance due to maternal imprinting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myoclonus-Dystonia (DYT11) | Loss-of-function mutations in SGCE disrupt the sarcoglycan complex, impairing membrane stability and neuronal signaling. | ClinVar, OMIM #159900 |
| Schizophrenia (susceptibility) | Rare SGCE variants may contribute to neurodevelopmental pathways, though evidence is limited. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical carcinoma) | 4.8 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.304C>T (p.Arg102*) | Nonsense | Rare | Loss of function – premature truncation |
| c.771_772delAG (p.Gly258Glufs*5) | Frameshift deletion | Rare | Loss of function – frameshift and truncation |
| c.2T>C (p.Met1?) | Start loss | Rare | Loss of function – no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Majority of SGCE disease-associated mutations are loss-of-function (nonsense, frameshift, splice-site, deletions) leading to haploinsufficiency.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SGCE.
Dominant Negative (DN)
Not reported; mechanism is primarily haploinsufficiency due to maternal imprinting.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • dystrophin-associated glycoprotein complex (GO:0016010) |
| • protein binding (GO:0005515) | • sarcolemma (GO:0042383) |
Pathways
• Dystrophin-associated glycoprotein complex (Reactome: R-HSA-390522)
• Striated muscle contraction (Reactome: R-HSA-397014)
Protein Summary
Epsilon-sarcoglycan (UniProt O43556) is a 437-amino acid transmembrane protein with a single transmembrane domain. It is part of the sarcoglycan subcomplex that anchors the dystrophin-glycoprotein complex to the extracellular matrix. In the brain, it localizes to postsynaptic membranes and is implicated in dendritic spine maintenance. Mutations cause myoclonus-dystonia through loss of protein function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGCE Knockout HEK293 Cell Line | EDJ-KQ6397 | Human | 8910 | Details Get a Quote |
| SGCE Knockout A-549 Cell Line | EDJ-KQ29096 | Human | 8910 | Details Get a Quote |
| SGCE Knockout HCT 116 Cell Line | EDJ-KQ30423 | Human | 8910 | Details Get a Quote |
| SGCE Knockout HeLa Cell Line | EDJ-KQ30424 | Human | 8910 | Details Get a Quote |
