Bos taurus Gene: BSCL2
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 29:41713367-41724760
Strand Reverse strand
Band
Transcripts
ENSBTAT00000003254 ENSBTAP00000003254
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.
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0006629 lipid metabolic process
GO:0008150 biological_process
GO:0016042 lipid catabolic process
GO:0019915 lipid storage
GO:0034389 lipid particle organization
GO:0045444 fat cell differentiation
GO:0050995 negative regulation of lipid catabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
SSD Ortholog
Ortholog supports species divergence
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
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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