Gene
sgce
- ID
- ZDB-GENE-030724-1
- Name
- sarcoglycan, epsilon
- Symbol
- sgce Nomenclature History
- Previous Names
-
- zgc:92318
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Predicted to localize to sarcoglycan complex. Human ortholog(s) of this gene implicated in myoclonic dystonia. Is expressed in central nervous system; retina; retinal ganglion cell layer; and retinal inner nuclear layer. Orthologous to human SGCE (sarcoglycan epsilon).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150624 (11 images)
- IMAGE:6900114 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| myoclonic dystonia 11 | Alliance | Dystonia-11, myoclonic | 159900 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cadherin-like superfamily | Dystroglycan-type cadherin-like | Sarcoglycan alpha/epsilon | Sarcoglycan alpha/epsilon, N-terminal domain | Sarcoglycan alpha/epsilon second domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PAU2
|
443 | |||||
|
UniProtKB:Q6DHH1
|
414 | |||||
|
UniProtKB:A0A8M2B6H2
|
438 | |||||
|
UniProtKB:A0A8M9P1Q4
|
467 | |||||
|
UniProtKB:A0A8M6Z2W7
|
458 | |||||
|
UniProtKB:A0A8M6YTU0
|
434 |
Interactions and Pathways
No data available
Plasmids
No data available