POMT2

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)

Full Name

protein-O-mannosyltransferase 2

Function

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).

Biological Process

Positive regulation of protein O-linked glycosylationIEA:Ensembl
Protein O-linked mannosylationManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities.
Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2):
An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal.

PTM

N-glycosylated.