BSCL2

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to 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. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2). [provided by RefSeq, Mar 2011]

Description

BSCL2 lipid droplet biogenesis associated, seipin

Tissue specificity

Tissue enhanced (brain, pituitary gland)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

11 (62690275 - 62709845)

Ensembl ID

ENSG00000168000  (ver. 103.38)

Orthologs

Mouse Bscl2: ENSMUSG00000071657

UniProt

Q96G97

neXtProt

NX_Q96G97

Human splice variants
Mouse splice variants

Protein structure