Bscl2
Gene Detail

Symbol Name ID

Bscl2 Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) 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, SPG17
Human Chr (Location)		11q13; chr11:62690262-62709619 (-)  GRCh38
Disease Associations		(3) Diseases Associated with Human BSCL2

Alleles and phenotypes

All alleles(26) : Targeted(6) Gene trapped(20)
 

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)   

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 (14)    Tissues (7)   
Theiler Stages: 1, 2, 3, 5, 28

Assay Type	Results
RT-PCR	14

cDNA source data(120)
External Resources: Allen Institute   GEO   ArrayExpress

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
International Mouse Knockout Project Status	Bscl2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034930	VEGA Gene Model | MGI Sequence Detail	10981	C57BL/6J
transcript	OTTMUST00000088818	VEGA | MGI Sequence Detail	1684	Not Applicable
polypeptide	OTTMUSP00000048458	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:200947 Prieur X, et al., Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice. Diabetologia. 2013 Aug;56(8):1813-25
All references(42)

Other accession IDs

MGI:2147473