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FLASH GENE
Symbol BSCL2 contributors: mct/npt - updated : 09-03-2009
HGNC name Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
HGNC id 15832
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
endocrinebraindiencephalonpituitary  
Nervousbraindiencephalonhypothalamus highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Epithelialsecretoryglandularendocrine 
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • at least two hydrophobic stretches, indicative of a transmembrane protein, no similarity with other known proteins or consensus motif
  • HOMOLOGY
    interspecies homolog to murine guanine-nucleotide binding protein,gamma 3
    homolog to Drosophila cg9904 protein
    Homologene
    FAMILY
  • seipin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • transmembrane protein that resides in the endoplasmic reticulum and concentrates at junctions between the ER and cytosolic lipid droplets
  • basic FUNCTION
  • may play a role in the differentiation of mesenchymal cells into preadipocyte
  • involved in droplet assembly and/or maintenance
  • strongly induced during adipocyte differentiation, and the induction of BSCL2 expression was essential for adipogenesis
  • essential, cell-autonomous regulator of adipogenesis
  • required for normal lipid droplet morphology
  • playspotentially at least a structural role in organizing droplets or in communication between droplets and ER
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text regulation of body fat distribution and insulin resistance
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSCL2 , SPG17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in distal hereditary motor neuropathy type V or CMT2D (defect of glycosylation of seipin resulting in aggregates formation and in neurodegeneration)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS