protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; POMGnT2; extracellular O-linked N-acetylglucosamine transferase-like; glycosyltransferase-like domain-containing protein 2 (POMGNT2, AGO61, C3orf39, EOGTL, GTDC2)

Function: - protein glycosylation - O-linked mannose beta-1,4-N-acetylglucosaminyltransferase - tranfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosyl- protein - involved in 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 UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein Structure: - belongs to the glycosyltransferase 61 family - contains 1 fibronectin F3 module Compartment: - endoplasmic reticulum membrane - single-pass type 2 membrane protein Expression: - highly expressed in the brain, muscle, heart, & kidney in both fetus & adult - in the brain, highest expression in the cortex & cerebellum - highly expressed in the pancreas Pathology: - mutations in POMGNT2 are associated with muscular dystrophy-dystroglycanopathy MDDGA8

General

glycoprotein glycosyltransferase membrane protein

Properties

SIZE: entity length = 580 aa MW = 67 kD COMPARTMENT: endoplasmic reticulum MOTIF: transmembrane domain {5-25} N-glycosylation site {N99} N-glycosylation site {N276} fibronectin type III domain or F3 module {488-580}

Database Correlations

OMIM correlations UniProt Q8NAT1 Pfam PF04577 Entrez Gene 84892 Kegg hsa:84892

References

UniProt :accession Q8NAT1