Homo sapiens Gene: BSCL2

Summary
InnateDB Gene IDBG-51625.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol BSCL2
Gene Name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms GNG3LG; HMN5; SPG17
Species Homo sapiens
Ensembl Gene ENSG00000168000
Encoded Proteins
IDBP-51627 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-51629 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-51631 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-295364 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-295356 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-295360 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-295354 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-376335 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-376346 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-376351 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-376353 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-376357 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-583433 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-600911 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-593828 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-596365 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-598200 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-597231 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-600602 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
IDBP-590270 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
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: 62457747-62477317
Strand Reverse strand
Band q12.3
Transcripts
ENST00000360796  ENSP00000354032
ENST00000278893  ENSP00000278893
ENST00000301781  ENSP00000301781
ENST00000407022  ENSP00000384080
ENST00000405837  ENSP00000385332
ENST00000403550  ENSP00000385561
ENST00000403098  ENSP00000384258
ENST00000433053  ENSP00000414002
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 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein‑Protein  8
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003674 molecular_function
Biological Process
GO:0008150 biological_process
GO:0008219 cell death
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 to endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000071657 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000002503 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q96G97 
TrEMBL E9PIU3 E9PJK0 E9PJS9 E9PPN5 E9PR78 E9PRU2 E9PSB5 F8W7Q8 F8WER0 G3XAE4 H7BXM1 H7BYY0 H7C2D5 J3KQ12
UniProt Splice Variant
Entrez Gene 26580 
UniGene Hs.533709 Hs.732344
RefSeq NM_001122955  NM_001130702  NM_032667 
HUGO 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  EAW74074 
ImmGen BSCL2 (murine) 
RNA Seq Atlas 26580