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

More general terms

• glycosyltransferase
• glycoprotein
• membrane protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84892
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84892
• OMIM: https://mirror.omim.org/entry/614828
• OMIM: https://mirror.omim.org/entry/614830
• UniProt: http://www.uniprot.org/uniprot/Q8NAT1.html