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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
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
  • Synonyms
    GNG3LG, HMN5, PELD, SPG17
  • Links
    NCBI Gene ID: 26580
    neXtProt AC: NX_Q96G97

  • Chr Location
    11q13; chr11:62690262-62709619 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Bscl2 mouse models; 4 with human BSCL2 associations

Human Disease Mouse Models
       Lipodystrophy, Congenital Generalized, Type 2; CGL2   OMIM: 269700 View 2 models
       Encephalopathy, Progressive, with or without Lipodystrophy; PELD   OMIM: 615924
Neuronopathy, Distal Hereditary Motor, Type Va; HMN5A   OMIM: 600794
Spastic Paraplegia 17, Autosomal Dominant; SPG17   OMIM: 270685
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 4 alleles in 5 genetic backgrounds
    17 phenotypes from multigenic genotypes
    20 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    57 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • InterPro Domains
    IPR009617 Seipin family
Molecular
Reagents
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  • All nucleic 125
    Genomic 3
    cDNA 121
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2147473
References
more
  • Summaries
    All 47
    Developmental Gene Expression 1
    Diseases 4
    Gene Ontology 3
    Phenotypes 20
  • 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:231465 Zhou L, et al., Activation of PPARgamma Ameliorates Spatial Cognitive Deficits through Restoring Expression of AMPA Receptors in Seipin Knock-Out Mice. J Neurosci. 2016 Jan 27;36(4):1242-53

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory