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

Also Known as Gng3lg; 2900097C17Rik

生物種: Mus musculus

遺伝子タイプ: protein coding
遺伝子ID: 14705

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 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
27806294 MGI
Biological Process GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS01641 BSCL2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Homo sapiens Bscl2 NCBI NCBI:26580