Gene
gosr2
- ID
- ZDB-GENE-030131-3290
- Name
- golgi SNAP receptor complex member 2
- Symbol
- gosr2 Nomenclature History
- Previous Names
-
- wu:fc33b02
- zgc:64068
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable SNAP receptor activity and SNARE binding activity. Predicted to be involved in intra-Golgi vesicle-mediated transport and vesicle fusion. Predicted to act upstream of or within protein transport and vesicle-mediated transport. Predicted to be located in membrane. Predicted to be part of SNARE complex. Predicted to be active in Golgi apparatus; cytoplasmic vesicle membrane; and endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 6. Orthologous to human GOSR2 (golgi SNAP receptor complex member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64068 (1 image)
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 |
|---|---|---|---|
| progressive myoclonus epilepsy 6 | Alliance | Epilepsy, progressive myoclonic 6 | 614018 |
| Muscular dystrophy, congenital, with or without seizures | 620166 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR027027 | GOSR2/Membrin/Bos1 |
Domain Details Per Protein
| Protein | Length | GOSR2/Membrin/Bos1 |
|---|---|---|
|
UniProtKB:Q7T366
|
212 |
Interactions and Pathways
No data available
Plasmids
No data available