GenAge entry for BSCL2 (Homo sapiens)

Gene name (HAGRID: 186)

HGNC symbol: BSCL2
Aliases: GNG3LG; SPG17
Common name: Berardinelli-Seip congenital lipodystrophy 2 (seipin)

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
Description: Mutations in the human BSCL2 gene have been associated with Bernardinelli-Seip congenital lipodystrophy, a possible segmental progeroid syndrome [151]. Its functions are unknown.

Cytogenetic information

Cytogenetic band: 11q13
Location: 62,690,262 bp to 62,706,315 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0016042; lipid catabolic process
GO:0019915; lipid storage
GO:0034389; lipid particle organization
GO:0045444; fat cell differentiation
GO:0050995; negative regulation of lipid catabolic process

Cellular component:

GO:0030176; integral component of endoplasmic reticulum membrane

Function:

GO:0003674; molecular_function
GO:0005515; protein binding

Show all GO terms

Protein interactions and network

No interactions in records.

Retrieve sequences for BSCL2

ORF: ORF
CDS: CDS

Homologs in model organisms

Danio rerio: bscl2l
Danio rerio: bscl2
Drosophila melanogaster: Seipin
Mus musculus: Bscl2
Rattus norvegicus: Bscl2
Schizosaccharomyces pombe: SPAC3A11.04