Mus musculus Gene: Bscl2
Summary
InnateDB Gene IDBG-141270.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bscl2
Gene Name Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Synonyms 2900097C17Rik; AI046355; Gng3lg;
Species Mus musculus
Ensembl Gene ENSMUSG00000071657
Encoded Proteins
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
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 19:8837467-8848683
Strand Forward strand
Band A
Transcripts
ENSMUST00000086058 ENSMUSP00000083224
ENSMUST00000159770
ENSMUST00000159634 ENSMUSP00000125422
ENSMUST00000160556 ENSMUSP00000123976
ENSMUST00000159571
ENSMUST00000160897 ENSMUSP00000125250
ENSMUST00000162580
ENSMUST00000162071
ENSMUST00000159653 ENSMUSP00000123920
ENSMUST00000171649 ENSMUSP00000127685
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: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:0030176 integral component of endoplasmic reticulum membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL F6US45
UniProt Splice Variant
Entrez Gene 14705
UniGene Mm.345134
RefSeq NM_001136064 NM_001290823 NM_008144
OMIM
CCDS CCDS29551 CCDS70931
HPRD
IMGT
MGI ID MGI:1298392
MGI Symbol Bscl2
EMBL AC129217
GenPept
RNA Seq Atlas 14705