Version 5.4
| Homo sapiens Gene: BSCL2 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-51625.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | BSCL2 | ||||||||||||||||||
| Gene Name | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000168000 | ||||||||||||||||||
| Encoded Proteins |
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 11:62690275-62709845 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q12.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.533709 Hs.732344 | ||||||||||||||||||
| RefSeq | NM_001122955 NM_001130702 NM_032667 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS44627 CCDS55769 CCDS8031 | ||||||||||||||||||
| HPRD | 05858 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||