Gene
bscl2
- ID
- ZDB-GENE-051113-140
- Name
- BSCL2 lipid droplet biogenesis associated, seipin
- Symbol
- bscl2 Nomenclature History
- Previous Names
-
- zgc:123260 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be involved in lipid droplet organization and lipid storage. Predicted to localize to integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; distal hereditary motor neuronopathy type 5A; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Arribat et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 13 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 13 | 619112 |
| congenital generalized lipodystrophy type 2 | Alliance | Lipodystrophy, congenital generalized, type 2 | 269700 |
| hereditary spastic paraplegia 17 | Alliance | Silver spastic paraplegia syndrome | 270685 |
| Encephalopathy, progressive, with or without lipodystrophy | 615924 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009617 | Seipin family |
Domain Details Per Protein
| Protein | Length | Seipin family |
|---|---|---|
|
UniProtKB:Q32PM4
|
350 |
Interactions and Pathways
No data available
Plasmids
No data available