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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bscl2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
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
Neuropathy, distal hereditary motor, type VC 619112
Associated With bscl2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR009617 Seipin family
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations