Pomt2 - protein-O-mannosyltransferase 2 Gene

Species: Mus musculus

Gene Type: protein coding
Gene ID: 217734

Summary

This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]

Pomt2 Products (1)

mRNA Protein Name
NM_153415.4 NP_700464.2 protein O-mannosyl-transferase 2
Biological Process GO Annotation Evidence References Source
acts upstream of or within basement membrane organization IMP
IMP: Inferred from mutant phenotype
21970971 MGI
acts upstream of or within dentate gyrus development IMP
IMP: Inferred from mutant phenotype
21970971 MGI
acts upstream of or within reactive gliosis IMP
IMP: Inferred from mutant phenotype
21970971 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

protein O-mannosyl-transferase 2

  • dolichyl-phosphate-mannose--protein mannosyltransferase 2

Orthologs Information

Species Symbol Source ID
Homo sapiens Pomt2 NCBI NCBI:29954