Gene table of POMGNT2 : protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Gene-disease associations table

Disease IDDisease nameSource of annotation with POMGNT2OMIM linkNumber of associated genesgenes
PS236670MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE AClinVar, OMIM, HUMSAVAR link to OMIM 14GMPPB, POMT2, LARGE1, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, FKRP, ISPD, POMGNT2, POMGNT1, POMK, DAG1

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Annotation of the gene POMGNT2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
protein bindingGO:00055150.46
protein O-GlcNAc transferase activityGO:00973639.05
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
bindingGO:00054880.18
transferase activity, transferring glycosyl groupsGO:00167574.08
transferase activity, transferring hexosyl groupsGO:00167584.43
acetylglucosaminyltransferase activityGO:00083755.85
UDP-glycosyltransferase activityGO:00081944.81