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 in Mice Using Bscl2 (1)    Mutations Annotated to Human Diseases (2)   

Interactions

Bscl2 interacts with 138 markers (Mir1a-1, Mir1a-2, Mir17, ...)

View All

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 Type	Results
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 Model	OTTMUSG00000034930 (Evidence)
Ensembl Gene Model	ENSMUSG00000071657 (Evidence)
Entrez Gene	14705 (Evidence)
UniGene	345134
NIA Mouse Gene Index	U019129
Consensus CDS Project	CCDS29551.2, CCDS70931.1
International Mouse Knockout Project Status	Bscl2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034930	VEGA Gene Model | MGI Sequence Detail	10981	C57BL/6J
transcript	OTTMUST00000088857	VEGA | MGI Sequence Detail	1388	Not Applicable
polypeptide	OTTMUSP00000048489	VEGA | MGI Sequence Detail	383	Not Applicable

All sequences(65) RefSeq(8) UniProt(3)

Polymorphisms

RFLP(1) : SNPs within 2kb(57 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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(45)
Disease annotation references (2)

Other
accession IDs

MGI:2147473