BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Homo sapiens (human)]
| Gene Symbol | BSCL2 |
| Entrez Gene ID | 26580 |
| Full Name | Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
| Synonyms | FLJ16651, GNG3LG, HMN5, MGC4694, SPG17 |
| 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). |
| Disorder | MIM: 606158 Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver |
| mRNA | NM_032667, 325910878 |
| Protein | NP_116056, 40068505 |
| Product | seipin isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001130702, 325974508 |
| Protein | NP_001124174, 325974509 |
| Product | seipin isoform 3 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001122955, 325910876 |
| Protein | NP_001116427, 171906569 |
| Product | seipin isoform 1 |
| RefSeq Status | REVIEWED |
| WP236 | Adipogenesis |
| Homo sapiens (human) | BSCL2 | NP_001116427.1 |
| Canis lupus familiaris (dog) | BSCL2 | XP_853538.1 |
| Bos taurus (cattle) | BSCL2 | NP_001015589.1 |
| Mus musculus (house mouse) | Bscl2 | NP_032170.2 |
| Rattus norvegicus (Norway rat) | Bscl2 | NP_001012171.1 |
| Danio rerio (zebrafish) | bscl2 | NP_001032473.1 |
| ID | Name | Evidence |
| GO:0008150 | biological_process | ND |
| GO:0008219 | cell death | IEA |
Component
| ID | Name | Evidence |
| GO:0005783 | endoplasmic reticulum | IEA |
| GO:0005789 | endoplasmic reticulum membrane | IEA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0030176 | integral to endoplasmic reticulum membrane | IDA |
Function
| ID | Name | Evidence |
| GO:0003674 | molecular_function | ND |
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