BSCL2

Seipin is a protein that in humans is encoded by the BSCL2 gene.^[5][6][7]

BSCL2
Identifiers
Aliases	BSCL2, GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin), seipin lipid droplet biogenesis associated, BSCL2 lipid droplet biogenesis associated, seipin, HMN5C
External IDs	OMIM: 606158; MGI: 1298392; HomoloGene: 32032; GeneCards: BSCL2; OMA:BSCL2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q12.3 Start 62,689,289 bp[1] End 62,709,845 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 5.76 cM Start 8,814,831 bp[2] End 8,826,047 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus primary visual cortex pituitary gland anterior pituitary right testis Brodmann area 9 left testis nucleus accumbens caudate nucleus hypothalamus Top expressed in tunica adventitia of aorta seminiferous tubule white adipose tissue brown adipose tissue subcutaneous adipose tissue facial motor nucleus motor neuron fossa paraventricular nucleus of hypothalamus condyle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding molecular function Cellular component integral component of membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum endoplasmic reticulum membrane membrane Biological process lipid catabolic process lipid storage negative regulation of lipid catabolic process fat cell differentiation lipid droplet organization lipid metabolism positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26580 14705 Ensembl ENSG00000168000 ENSMUSG00000071657 UniProt Q96G97 Q9Z2E9 RefSeq (mRNA) NM_001122955 NM_001130702 NM_032667 NM_001386027 NM_001386028 NM_001136064 NM_001290823 NM_008144 RefSeq (protein) NP_001116427 NP_001124174 NP_116056 NP_001129536 NP_001277752 NP_032170 Location (UCSC) Chr 11: 62.69 – 62.71 Mb Chr 19: 8.81 – 8.83 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in BSCL2 are known to cause the following conditions:^[8]

• Congenital generalized lipodystrophy type 2;
• Spastic paraplegia 17, autosomal dominant (SPG17);
• Neuronopathy, distal hereditary motor, 5C (HMN5C);
• Encephalopathy, progressive, with or without lipodystrophy (PELD).