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Bscl2
Gene Detail
Symbol

Name
ID
Bscl2
Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)
MGI:1298392
Synonyms
Gng3lg, seipin
Feature Type
protein coding gene
Genetic Map
Chromosome 19
5.76 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr19:8837687-8848667 bp, + strand
From VEGA annotation of GRCm38

  10981 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32032  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Bscl2

Human
homologs
Human Homolog BSCL2, Berardinelli-Seip congenital lipodystrophy 2 (seipin)
NCBI Gene ID 26580
neXtProt AC  NX_Q96G97
Human Synonyms  GNG3LG, HMN5, PELD, SPG17
Human Chr (Location)  11q13; chr11:62690262-62709619 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human BSCL2
Mutations,
alleles, and
phenotypes
All mutations/alleles(26) : Gene trapped(20) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit severe generalized lipodystrophy with hepatic steatosis, glucose intolerance, and insulin resistance.
 
Human Diseases Modeled Using Mouse Bscl2 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Bscl2 interacts with 138 markers (Mir1a-1, Mir1a-2, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process fat cell differentiation, lipid catabolic process, ...
Component endoplasmic reticulum, integral component of endoplasmic reticulum membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (10)    Tissues (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 10
cDNA source data(120)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(125) Genomic(3) cDNA(121) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000034930 (Evidence)
Ensembl Gene ModelENSMUSG00000071657 (Evidence)
Entrez Gene14705 (Evidence)
UniGene345134
NIA Mouse Gene IndexU019129
Consensus CDS ProjectCCDS29551.2, CCDS70931.1
International Mouse Knockout Project StatusBscl2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034930 VEGA Gene Model | MGI Sequence Detail 10981 C57BL/6J ±  kb
transcript OTTMUST00000088857 VEGA | MGI Sequence Detail 1388 Not Applicable 
polypeptide OTTMUSP00000048489 VEGA | MGI Sequence Detail 383 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(8) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(57 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009617 Adipose-regulatory protein, Seipin
Protein Ontology PR:000004829 seipin
References
(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:210974 Zhou L, et al., Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARgamma. Hum Mol Genet. 2014 Aug 1;23(15):4094-102
All references(44)
Disease annotation references (2)
Other
accession IDs
MGI:2147473

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
10/08/2014
MGI 5.20
The Jackson Laboratory