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BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001122955 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001130702 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol BSCL2
Entrez Gene ID 26580
Full Name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms GNG3LG, HMN5, SPG17
General protein information
Preferred Names
seipin
Names
seipin
Bernardinelli-Seip congenital lipodystrophy type 2 protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13

Summary This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011].
Disorder

MIM: 606158

Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver

mRNA Protein Product Sequence Price Select
NM_001122955, 325910876 NP_001116427, 171906569 seipin isoform 1 ORF Sequence $550.00
NM_001130702, 325974508 NP_001124174, 325974509 seipin isoform 3 ORF Sequence $300.00
NM_032667, 325910878 NP_116056, 40068505 seipin isoform 2 ORF Sequence $400.00
WikiPathways
WP236Adipogenesis
Homo sapiens (human)BSCL2NP_001116427.1
Pan troglodytes (chimpanzee)LOC100609080XP_003313147.1
Macaca mulatta (Rhesus monkey)BSCL2XP_002799560.1
Canis lupus familiaris (dog)BSCL2XP_853538.1
Bos taurus (cattle)BSCL2NP_001015589.1
Mus musculus (house mouse)Bscl2NP_001129536.1
Rattus norvegicus (Norway rat)Bscl2NP_001012171.1
Danio rerio (zebrafish)bscl2NP_001032473.1
Process
IDNameEvidence
GO:0008219cell deathIEA
GO:0016042lipid catabolic processIEA
GO:0019915lipid storageIMP
GO:0034389lipid particle organizationIMP
GO:0045444fat cell differentiationISS
GO:0050995negative regulation of lipid catabolic processISS
Component
IDNameEvidence
GO:0030176integral component of endoplasmic reticulum membraneIDA
Function
IDNameEvidence
GO:0003674molecular_functionND
GeneCards BSCL2
UniProt Q96G97
Vega OTTHUMG00000150624
MIM 606158
Ensembl ENSG00000168000
HGNC 15832
HPRD 05858

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the BSCL2 gene?

The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Within cells, seipin is found in the membrane of a tube-like structure called the endoplasmic reticulum. The endoplasmic reticulum modifies newly produced proteins and also helps transport proteins, fats, and other molecules to specific sites either inside or outside the cell. The BSCL2 gene is active in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. The gene is also active in fat-storing cells called adipocytes, and studies suggest that seipin may play a critical role in the early development of these cells.

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