EXT2 gene homepage

A Multiple Osteochondroma Mutation Database
General information
Gene symbol EXT2
Gene name exostosin 2
Chromosome 11
Chromosomal band p12-p11
Imprinted Unknown
Genomic reference NG_007560.1
Transcript reference NM_000401.3, NM_207122.1
Exon/intron information NM_000401.3 exon/intron table
Associated with diseases chondrosarcoma, EXT-2, PSS, SSMS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Wim Wuyts
Total number of public variants reported 387
Unique public DNA variants reported 384
Individuals with public variants 388
Hidden variants 2
Download all this gene's data Download all data
Notes The Multiple Osteochondroma Mutation Database for EXT2 was initiated with the support of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumours.
Date created December 06, 2008
Date last updated September 05, 2017
Version EXT2:170905

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_000401.3.
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 https://www.LOVD.nl/EXT2
External URL GeneTests
HGNC 3513
Entrez Gene 2132
PubMed articles EXT2
OMIM - Gene 608210
OMIM - Diseases chondrosarcoma
EXT-2 (exostoses, multiple, type 2 (EXT-2))
PSS (syndrome Potocki-Shaffer (PSS, chromosome 11p11.2 deletion syndrome (P11pDS)))
SSMS (seizures, scoliosis, and macrocephaly syndrome (SSMS))
HGMD EXT2
GeneCards EXT2
GeneTests EXT2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025230 11 exostosin glycosyltransferase 2, transcript variant 2 NM_207122.1 NP_997005.1 386
00007321 11 transcript variant 1 NM_000401.3 NP_000392.3 1


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 © 2008-2017. 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.