The BSCL2 gene homepage

BSCL2-seipinopathies variation databases - curated by the neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS), Spain.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol BSCL2
Gene name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Chromosome 11
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_008461.1
Transcript reference NM_001122955.3
Exon/intron information NM_001122955.3 exon/intron table
Associated with diseases CGL-2, HMN-5A, PELD, SPG-17
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) María-Jesús Sobrido and Sergio Piñeiro
Total number of public variants reported 340
Unique public DNA variants reported 79
Individuals with public variants 584
Hidden variants 0
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. We are in the process of joining efforts and merging the two databases.
Date created May 23, 2012
Date last updated September 15, 2020
Version BSCL2:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001122955.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Inherited Peripheral Neuropathies Mutation Database
HGNC 15832
Entrez Gene 26580
PubMed articles BSCL2
OMIM - Gene 606158
OMIM - Diseases CGL-2 (lipodystrophy, congenital generalized, type 2 (CGL-2))
HMN-5A (neuropathy, motor, distal, hereditary, type Va (HMN-5A))
PELD (encephalopathy, progressive, with or without lipodystrophy (PELD))
SPG-17 (paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver))
GeneCards BSCL2
GeneTests BSCL2

Active transcripts




NCBI ID     

NCBI Protein ID     

00023833 11 transcript variant 1 NM_001122955.3 NP_001116427.1 340

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.