Bscl2 - Berardinelli-Seip congenital lipodystrophy 2 (seipin) Gene

Mus musculus

Also known as Gng3lg; 2900097C17Rik

Gene ID: 14705 | Gene type: protein coding

About Bscl2

Summary

Predicted to enable phospholipid binding activity. Involved in several processes, including fat cell differentiation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Acts upstream of or within several processes, including cytosolic lipolysis; lipid droplet formation; and regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction. Located in endoplasmic reticulum. Is expressed in early conceptus and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Apr 2022]

Bscl2 Products(3)

mRNA	Protein	Name
NM_001136064.3	NP_001129536.1	seipin isoform 1
NM_001290823.1	NP_001277752.1	seipin isoform 2
NM_008144.5	NP_032170.3	seipin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27806294	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within adipose tissue development	IMP IMP: Inferred from mutant phenotype	21551454	MGI
acts upstream of or within cytosolic lipolysis	IMP IMP: Inferred from mutant phenotype	24622797	MGI
acts upstream of or within fat cell differentiation	IMP IMP: Inferred from mutant phenotype	23458123	MGI
involved in fat cell differentiation	IMP IMP: Inferred from mutant phenotype	22269949	MGI
acts upstream of or within lipid droplet formation	IDA IDA: Inferred from direct assay	23458123	MGI
acts upstream of or within lipid droplet organization	IMP IMP: Inferred from mutant phenotype	24778225	MGI
involved in lipid droplet organization	IMP IMP: Inferred from mutant phenotype	27806294	MGI
acts upstream of or within lipid storage	IMP IMP: Inferred from mutant phenotype	23458123	MGI
acts upstream of or within maintenance of location in cell	IMP IMP: Inferred from mutant phenotype	23458123	MGI
involved in negative regulation of catalytic activity	IMP IMP: Inferred from mutant phenotype	27806294	MGI
involved in negative regulation of lipid catabolic process	IMP IMP: Inferred from mutant phenotype	22269949	MGI
involved in positive regulation of cold-induced thermogenesis	IMP IMP: Inferred from mutant phenotype	27748422	MGI
involved in regulation of phosphatidic acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	27806294	MGI
acts upstream of or within spermatid differentiation	IMP IMP: Inferred from mutant phenotype	24778225	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18585921	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

seipin

Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)	Bernardinelli-Seip congenital lipodystrophy 2 homolog
G protein gamma 3 linked	bernardinelli-Seip congenital lipodystrophy type 2 protein homolog

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01641	BSCL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Bscl2	NCBI	NCBI:26580

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