Homo sapiens Gene: BSCL2
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)
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:62690275-62709845
Strand Reverse strand
Band q12.3
Transcripts
ENST00000360796 ENSP00000354032
ENST00000278893 ENSP00000278893
ENST00000301781 ENSP00000301781
ENST00000407022 ENSP00000384080
ENST00000405837 ENSP00000385332
ENST00000403550 ENSP00000385561
ENST00000403098 ENSP00000384258
ENST00000449636 ENSP00000405265
ENST00000421906 ENSP00000413209
ENST00000448568 ENSP00000413340
ENST00000412351
ENST00000413908 ENSP00000393728
ENST00000470529
ENST00000463679
ENST00000468505
ENST00000464544 ENSP00000431782
ENST00000532115
ENST00000526426
ENST00000531524 ENSP00000436026
ENST00000524862 ENSP00000433888
ENST00000537604
ENST00000530900
ENST00000525000 ENSP00000437044
ENST00000533982 ENSP00000434149
ENST00000532818 ENSP00000435831
ENST00000530009 ENSP00000435500
ENST00000528874 ENSP00000436991
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0008219 cell death
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
Mus musculus
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 Q96G97
TrEMBL A0A024R540 A0A024R549 A0A024R587 E9PIU3 E9PJK0 E9PJS9 E9PPN5 E9PR78 E9PRU2 E9PSB5 F8W7Q8 F8WER0 H7BXM1 H7BYY0 H7C2D5 J3KQ12
UniProt Splice Variant
Entrez Gene 26580
UniGene Hs.533709 Hs.732344
RefSeq NM_001122955 NM_001130702 NM_032667
HUGO HGNC:15832
OMIM 606158
CCDS CCDS44627 CCDS55769 CCDS8031
HPRD 05858
IMGT
EMBL AF052149 AK027524 AK075317 AP001458 BC004911 BC012140 BC041640 BC093048 CH471076
GenPept AAH04911 AAH12140 AAH41640 AAH93048 BAB55175 BAC11543 EAW74070 EAW74071 EAW74072 EAW74073 EAW74074 EAW74075 EAW74076 EAW74077 EAW74080 EAW74081
ImmGen BSCL2 (murine)
RNA Seq Atlas 26580