Aliases for POMT2 Gene
External Ids for POMT2 Gene
Previous GeneCards Identifiers for POMT2 Gene
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
GeneCards Summary for POMT2 Gene
POMT2 (Protein O-Mannosyltransferase 2) is a Protein Coding gene. Diseases associated with POMT2 include Muscular Dystrophy-Dystroglycanopathy , Type C, 2 and Muscular Dystrophy-Dystroglycanopathy , Type B, 2. Among its related pathways are Metabolism of proteins and Mannose type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include mannosyltransferase activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is POMT1.
UniProtKB/Swiss-Prot Summary for POMT2 Gene
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).