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Bscl2 Gene Detail
Summary
  • Symbol
    Bscl2
  • Name
    BSCL2 lipid droplet biogenesis associated, seipin
  • Synonyms
    Gng3lg, seipin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1298392
    NCBI Gene: 14705
  • Alliance
    genome feature page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:8814831-8826047 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 5.76 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    313 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1298392
 protein coding gene Chr19:8814831-8826047 (+)
129S1/SvImJ ENSMUSG00200051307
 protein coding gene Chr19:5540554-5551770 (+)
A/J ENSMUSG00195047202
 protein coding gene Chr19:5942074-5953285 (+)
AKR/J ENSMUSG00220048817
 protein coding gene Chr19:5715292-5726509 (+)
BALB/cJ ENSMUSG00180041804
 protein coding gene Chr19:6306056-6317269 (+)
C3H/HeJ ENSMUSG00175013676
 protein coding gene Chr19:5579808-5591019 (+)
C57BL/6NJ ENSMUSG00215046324
 protein coding gene Chr19:5781023-5792239 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022658
 protein coding gene Chr19:6038524-6049933 (+)
CAST/EiJ ENSTCUG00005029288
 protein coding gene Chr19:5417962-5429043 (+)
CBA/J ENSMUSG00210042036
 protein coding gene Chr19:5595557-5606772 (+)
DBA/2J ENSMUSG00185051683
 protein coding gene Chr19:5950250-5961465 (+)
FVB/NJ ENSMUSG00205023806
 protein coding gene Chr19:5637987-5649204 (+)
JF1/MsJ ENSUMUG00000054127
 protein coding gene Chr19:6187718-6198973 (+)
LP/J ENSMUSG00230052334
 protein coding gene Chr19:6867213-6878429 (+)
NOD/ShiLtJ ENSMUSG00190048897
 protein coding gene Chr19:5475606-5486822 (+)
NZO/HlLtJ ENSMUSG00225045067
 protein coding gene Chr19:10576010-10587226 (+)
PWK/PhJ ENSLUMG00010004721
 protein coding gene Chr19:5623937-5635030 (+)
SPRET/EiJ ENSMSPG00010042984
 protein coding gene Chr19:5531099-5542946 (+)
WSB/EiJ ENSIUOG00005042477
 protein coding gene Chr19:5304338-5315551 (+)



Homology
more
  • Human Ortholog
    BSCL2, BSCL2 lipid droplet biogenesis associated, seipin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BSCL2, BSCL2 lipid droplet biogenesis associated, seipin
  • Synonyms
    GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17
  • Links
    NCBI Gene ID: 26580
    UniProt: Q96G97

  • Chr Location
    11q12.3; chr11:62689289-62709845 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Bscl2 mouse models; 5 with human BSCL2 associations

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

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    123 phenotypes from 6 alleles in 7 genetic backgrounds
    60 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
less
  • All GO Annotations
    32
  • GO References
    17
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    632
  • Tissues
    14
  • cDNA Data
    121
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14705 NCBI Gene Model | MGI Sequence Detail 11217 C57BL/6J ±  kb
    transcript NM_001136064 RefSeq | MGI Sequence Detail 1962 ZRU/MplStud  
    polypeptide Q9Z2E9 UniProt | EBI | MGI Sequence Detail 383 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 128
      Genomic 3
      cDNA 122
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147473
    References
    more
    • Summaries
      All 108
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 17
      Phenotypes 60
    • 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:376123 Li C, et al., Adipogenin promotes the development of lipid droplets by binding a dodecameric seipin complex. Science. 2025 Nov 6;390(6773):eadr9755
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory