The POMGNT2 gene homepage

General information
Gene symbol POMGNT2
Gene name protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Chromosome 3
Chromosomal band p22.1
Imprinted Unknown
Genomic reference NG_032930.1
Transcript reference NM_032806.5, XM_005265515.1
Associated with diseases ID, MDDGA-8
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 13
Date created March 31, 2014
Date last updated July 13, 2015
Version POMGNT2:150713

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:25902
Entrez Gene 84892
PubMed articles POMGNT2
OMIM - Gene 614828
OMIM - Diseases MDDGA-8 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A8 (MDDGA-8))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00042996 3 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) NM_032806.5 NP_116195.2 -
00042997 3 transcript variant X1 XM_005265515.1 XP_005265572.1 -


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