View SPG11 gene homepage

General information
Gene symbol SPG11
Gene name spastic paraplegia 11 (autosomal recessive)
Chromosome 15
Chromosomal band q13-q15
Imprinted Unknown
Genomic reference NG_008885.1
Transcript reference NM_025137.3
Exon/intron information NM_025137.3
Associated with diseases SPG-11
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 33
Unique public DNA variants reported 24
Individuals with public variants 31
Hidden variants 0
Date created May 03, 2013
Date last updated March 25, 2016
Version SPG11:160325

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 11226
Entrez Gene 80208
PubMed articles SPG11
OMIM - Gene 610844
OMIM - Diseases SPG-11 (paraplegia, spastic, autosomal recessive, type 11 (SPG-11))
GeneCards SPG11
GeneTests SPG11

Active transcripts




NCBI ID     

NCBI Protein ID     

00024040 15 transcript variant 1 NM_025137.3 NP_079413.3 33

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 © 2013-2016. 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.