The POMGNT1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol POMGNT1
Gene name protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Chromosome 1
Chromosomal band p34.1
Imprinted Not imprinted
Genomic reference LRG_701
Transcript reference NM_001243766.1, NM_017739.3
Exon/intron information NM_001243766.1 exon/intron table, NM_017739.3 exon/intron table
Associated with diseases ID, LGMD2O, MDDGA3, MDDGB3, RP76
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 550
Unique public DNA variants reported 222
Individuals with public variants 331
Hidden variants 14
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
When refering to this database please cite Oliveira et al. (2008). Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J.Hum.Genet. 53: 565-567.
Date created August 01, 2006
Date last updated May 23, 2022
Version POMGNT1:220523

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_001243766.1, NM_017739.3.
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
HGNC 19139
Entrez Gene 55624
PubMed articles POMGNT1
OMIM - Gene 606822
OMIM - Diseases LGMD2O (MDDGC3)
MDDGB3 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B3 (MDDGB-3))
RP76 (retinitis pigmentosa, type 76 (RP76))
GeneCards POMGNT1
GeneTests POMGNT1
Orphanet POMGNT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00025256 1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), transcript variant 2 NM_001243766.1 NP_001230695.1 550
00025467 1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), transcript variant 1 NM_017739.3 NP_060209.3 234

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2006-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.