InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POMT2

Summary

InnateDB Protein

IDBP-601193.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POMT2

Protein Name

protein-O-mannosyltransferase 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000450630

InnateDB Gene

IDBG-13659 (POMT2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:14699049}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:12460945, ECO:0000269PubMed:14699049}; Multi- pass membrane protein {ECO:0000269PubMed:12460945, ECO:0000269PubMed:14699049}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, 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. {ECO:0000269PubMed:15894594, ECO:0000269PubMed:16701995, ECO:0000269PubMed:17878207, ECO:0000269PubMed:19138766, ECO:0000269PubMed:22958903}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) [MIM:613156]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. {ECO:0000269PubMed:17634419, ECO:0000269PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]: 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. {ECO:0000269PubMed:17878207, ECO:0000269PubMed:17923109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in testis; detected at low levels in most tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.