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Bscl2 Gene Detail
Summary
  • Symbol
    Bscl2
  • Name
    Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • Synonyms
    Gng3lg, seipin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1298392
    NCBI Gene: 14705
  • Gene Overview
    MyGene.info: BSCL2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr19:8837687-8848667 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10981 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 5.76 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    BSCL2, BSCL2, seipin lipid droplet biogenesis associated
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BSCL2, BSCL2, seipin lipid droplet biogenesis associated
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GNG3LG, HMN5, PELD, SPG17
  • Links
    NCBI Gene ID: 26580
    neXtProt AC: NX_Q96G97
    UniProt: Q96G97

  • Chr Location
    11q12.3; chr11:62690262-62709619 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Bscl2 mouse models; 2 with human BSCL2 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    94 phenotypes from 5 alleles in 6 genetic backgrounds
    17 phenotypes from multigenic genotypes
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit severe generalized lipodystrophy with hepatic steatosis, glucose intolerance, and insulin resistance.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000034930 VEGA Gene Model | MGI Sequence Detail 10981 C57BL/6J ±  kb
    transcript OTTMUST00000088818 VEGA | MGI Sequence Detail 1684 Not Applicable  
    polypeptide OTTMUSP00000048458 VEGA | MGI Sequence Detail 383 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      57 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR009617 Seipin family
    Molecular
    Reagents
    less
    • All nucleic 126
      Genomic 3
      cDNA 122
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147473
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 2
      Diseases 5
      Gene Ontology 11
      Phenotypes 32
    • Earliest
      J:50600 Downes GB, et al., Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg. Genomics. 1998 Oct 15;53(2):220-30
    • Latest
      J:262654 El Zowalaty AE, et al., Seipin deficiency leads to increased endoplasmic reticulum stress and apoptosis in mammary gland alveolar epithelial cells during lactation. Biol Reprod. 2018 Apr 1;98(4):570-578

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory