Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BSCL2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID26580
Official gene symbolBSCL2
Full nameBerardinelli-Seip congenital lipodystrophy 2 (seipin)
Aliases,FLJ16651,GNG3LG,HMN5,MGC4694,SPG17,
Gene summaryThis gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 11   Locus: 11q12-q13.5
Gene position62477046 - 62457747  Map Viewer
Gene orientationminus
Gene size19300 bp
Gene sequence
OMIM ID606158