ZFIN ID: ZDB-GENE-051113-140
Gene Name: BSCL2 lipid droplet biogenesis associated, seipin
Gene Symbol: bscl2    Nomenclature History

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Previous Name: zgc:123260 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Predicted to be involved in lipid droplet organization and lipid storage. Predicted to localize to integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; distal hereditary motor neuronopathy type 5A; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin).
Genome Resources: Alliance (1),  Gene:567403 (1),  Ensembl(GRCz11):ENSDARG00000037008 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa37326 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH bscl2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    congenital generalized lipodystrophy type 2 Alliance Lipodystrophy, congenital generalized, type 2 269700
    distal hereditary motor neuronopathy type 5A Alliance Neuropathy, distal hereditary motor, type VA 600794
    hereditary spastic paraplegia 17 Alliance Silver spastic paraplegia syndrome 270685
    Encephalopathy, progressive, with or without lipodystrophy 615924
    DISEASE ASSOCIATED WITH bscl2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process lipid storage (more)
    Cellular Component integral component of membrane (more)
    Molecular Function molecular_function (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA bscl2-201 (1)    Ensembl 2103
    bscl2-202 (1)    Ensembl 1773
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM bscl2 No data available
    MARKER RELATIONSHIPS
    bscl2 Contained in: [BAC] CH211-198K5 (1)
    bscl2 Encodes: [cDNA] MGC:123260 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001037396 (1) 1802 nt
    Genomic GenBank:BX465841 (1) 190913 nt
    Select Tool
    Polypeptide UniProtKB:E7EYM9 (1) 441 aa
    Sequence Information (all 10)
    ORTHOLOGY for bscl2 ( Chr: 21 )
    CITATIONS (20)