Bos taurus Gene: BSCL2 | |||||||||||||||
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Summary | |||||||||||||||
InnateDB Gene | IDBG-643647.3 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | BSCL2 | ||||||||||||||
Gene Name | Seipin | ||||||||||||||
Synonyms | |||||||||||||||
Species | Bos taurus | ||||||||||||||
Ensembl Gene | ENSBTAG00000002503 | ||||||||||||||
Encoded Proteins |
Seipin
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Protein Structure | |||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
Entrez Gene | |||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000168000:
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 29:41713367-41724760 | ||||||||||||||
Strand | Reverse strand | ||||||||||||||
Band | |||||||||||||||
Transcripts |
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Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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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 | |||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Cross-References | |||||||||||||||
SwissProt | |||||||||||||||
TrEMBL | |||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | |||||||||||||||
UniGene | Bt.37371 | ||||||||||||||
RefSeq | NM_001015589 XM_005226912 XM_005226913 XM_005226914 XM_005226915 XM_005226916 XM_005226918 | ||||||||||||||
HUGO | |||||||||||||||
OMIM | |||||||||||||||
CCDS | |||||||||||||||
HPRD | |||||||||||||||
IMGT | |||||||||||||||
EMBL | |||||||||||||||
GenPept | |||||||||||||||
RNA Seq Atlas | |||||||||||||||