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Description for Protein BSCL2

Berardinelli-Seip congenital lipodystrophy 2 (seipin)
5 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(membrane: 1; platelet: 1)
Summary:
This 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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Berardinelli Seip congenital lipodystrophy gene 2; GNG3LG
    Approved Symbol:
    BSCL2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Lipodystrophy, congenital generalized, type 2(Pd);
  • Silver spastic paraplegia syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 2
  • Isoform 2 : 2
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 05858 Entrez Gene ID: 26580 OMIM ID: 606158 Swissprot Accession: Q96G97; Q53EN3;