POMT2 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol POMT2
Gene name protein-O-mannosyltransferase 2
Chromosome 14
Chromosomal band q24
Imprinted Not imprinted
Genomic reference NG_008897.1
Transcript reference NM_013382.5
Associated with diseases ID, LGMD-2N, MDDGA-2, MDDGB-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Rosário dos Santos
Total number of public variants reported 293
Unique public DNA variants reported 155
Individuals with public variants 192
Hidden variants 0
Notes This database is one of the gene variant databases from the:
Date created August 07, 2006
Date last updated March 08, 2019
Version POMT2:190308

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 https://www.LOVD.nl/POMT2
HGNC 19743
Entrez Gene 29954
PubMed articles POMT2
OMIM - Gene 607439
OMIM - Diseases LGMD-2N (MDDGC-2)
MDDGA-2 (MEB)
MDDGB-2 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B2 (MDDGB-2))
HGMD POMT2
GeneCards POMT2
GeneTests POMT2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016540 14 protein-O-mannosyltransferase 2 NM_013382.5 NP_037514.2 293


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 © 2006-2019. 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.