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Gene: Bscl2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) Mus musculus
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Symbol: Bscl2
Name: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Description: Involved in several processes, including cytosolic lipolysis; lipid droplet formation; and positive regulation of cold-induced thermogenesis. Localizes to the endoplasmic reticulum. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; distal hereditary motor neuronopathy type 5A; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Is expressed in early conceptus and secondary oocyte. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 4-nitroquinoline N-oxide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 2900097C17Rik; AI046355; Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin); Bernardinelli-Seip congenital lipodystrophy 2 homolog; bernardinelli-Seip congenital lipodystrophy type 2 protein homolog; G protein gamma 3 linked; Gng3lg; seipin
Orthologs:
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38198,837,467 - 8,848,683 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37198,911,957 - 8,923,173 (+)NCBIGRCm37mm9NCBIm37
MGSCv36198,906,548 - 8,915,712 (+)NCBImm8
Celera198,597,278 - 8,608,494 (+)NCBICelera
Cytogenetic Map19 ANCBI
cM Map195.76NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on Bscl2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1317733
Created: 2005-01-12
Species: Mus musculus
Last Modified: 2019-11-27
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.