Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BSCL2 contributors: mct/npt - updated : 09-03-2009
HGNC name Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
HGNC id 15832
Corresponding disease
BSCL2 Berardinelli-Seip congenital generalized lipodystrophy type 2
SPG17 spastic paraplegia 17
Location 11q12.3      Physical location : 62.457.746 - 62.477.046
Synonym name
  • guanine nucleotide binding protein (G protein), gamma 3, linked
  • spastic paraplegia 17 (Silver syndrome)
    • Synonym symbol(s) SPG17, GNG3LG, SEIPIN, MGC4694, HMN5
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, opposite orientation
    text head to head with GNG3
    STRUCTURE 17.12 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    MAPPING cloned Y linked N status provisional
    Physical map
    ASRGL1 11q12.3 asparaginase like 1 SCGB1A1 11q12.2-q13.1 secretoglobin, family 1A, member 1 (uteroglobin) MGC5395 11q12.2 hypothetical protein MGC5395 EEF1G 11q13.2 eukaryotic translation elongation factor 1 gamma FLJ22347 11q12.2 hypothetical protein FLJ22347 MTA2 11q12-q13.1 metastais-associated gene family, member 2 FLJ35827 11q12.3 hypothetical protein FLJ35827 ROM1 11q13.1 retinal outer segment membrane protein 1 B3GAT3 11q12.2 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) G2AN 11q12.3 alpha glucosidase II alpha subunit KIAA1698 11q12.3 KIAA1698 protein MGC2477 11q12.3 hypothetical protein MGC2477 LOC51035 11q12.3 ORF LOC221091 11q12.3 similar to hypothetical protein BSCL2 11q12.q13.5 Bernardinelli-Seip congenital lipodystrophy 2 (seipin) GNG3 11p11 guanine nucleotide binding protein (G protein), gamma 3 DKFZp762N1910 11q12.3 hypothetical protein DKFZp762N1910 MGC29649 11q12.3 hypothetical protein MGC29649 ZBTB3 11q12.3 zinc finger and BTB domain containing 3 POLR2G 11q13.1 polymerase (RNA) II (DNA directed) polypeptide G TAF6L 11q13.1 TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa LOC387617 11 hypothetical gene supported by NM_018336 LOC374395 11q12.3 similar to RIKEN cDNA 1810059G22 NXF1 11q12-q13 nuclear RNA export factor 1 STX5A 11cen-q12.1 syntaxin 5A FLJ10439 11q12.3 hypothetical protein FLJ10439 SLC3A2 11q12-q22 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 CHRM1 11q12-q13 cholinergic receptor, muscarinic 1 SLC22A6 11q13.1-q13.2 solute carrier family 22 (organic anion transporter), member 6 SLC22A8 11q11.7 solute carrier family 22 (organic anion transporter), member 8
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2033 - 462 variably expressed in most tissues Magre (2001)
    11 - 1526 - 398 variably expressed in most tissues Magre, 2001
    - - 2057 - 462 brain Magre (2001)
    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