GenAge entry for BSCL2 (Homo sapiens)

Gene name (HAGRID: 186)

HGNC symbol
BSCL2 
Aliases
HMN5; SPG17; GNG3LG 
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
11q12-q13.
Location
62,214,322 bp to 62,231,395 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser

Protein information

Gene Ontology
Process: GO:0008219; cell death
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 to endoplasmic reticulum membrane
Function: GO:0003674; molecular_function
Show all GO terms

Protein interactions and network

No interactions in records.

Retrieve sequences for BSCL2

ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
CELE_R01B10.6
Drosophila melanogaster
Seipin
Danio rerio
bscl2
Mus musculus
Bscl2
Rattus norvegicus
Bscl2
Schizosaccharomyces pombe
SPAC3A11.04

Selected references

External links

EPD
ORF Accession
NM_032667
CDS Accession
NP_116056
OMIM
606158
HPRD
05858
Ensembl
BSCL2
UniProt/Swiss-Prot
BSCL2_HUMAN
GeneCards
BSCL2
Entrez Gene
26580
UniGene
533709
GenAtlas
BSCL2
Internet
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