Aliases for POMGNT2 Gene
External Ids for POMGNT2 Gene
Previous HGNC Symbols for POMGNT2 Gene
This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
GeneCards Summary for POMGNT2 Gene
POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)) is a Protein Coding gene. Diseases associated with POMGNT2 include Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 8 and Walker-Warburg Syndrome. Among its related pathways are Mannose type O-glycan biosynthesis and O-linked glycosylation. GO annotations related to this gene include transferase activity, transferring glycosyl groups and protein O-GlcNAc transferase activity. An important paralog of this gene is EOGT.
UniProtKB/Swiss-Prot for POMGNT2 Gene
O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that tranfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.