Entity Details

Primary name PMGT2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NAT1
EntryNamePMGT2_HUMAN
FullNameProtein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
TaxID9606
Evidenceevidence at protein level
Length580
SequenceStatuscomplete
DateCreated2006-09-05
DateModified2021-06-02

Ontological Relatives

GenesPOMGNT2

GO terms

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GOName
GO:0001764 neuron migration
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006493 protein O-linked glycosylation
GO:0008375 acetylglucosaminyltransferase activity
GO:0016021 integral component of membrane
GO:0016757 glycosyltransferase activity
GO:0035269 protein O-linked mannosylation
GO:0097363 protein O-GlcNAc transferase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR003961 Fibronectin type IIIDomainDomain
IPR007657 Glycosyltransferase 61FamilyFamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618135 OMIMMuscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8)An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic. The disease is caused by variants affecting the gene represented in this entry.
614830 OMIMMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
PMGT2_HUMANNT2NA_HUMANBioGRID, IntAct25416956 details
PMGT2_HUMANA4_HUMANBioGRID21832049 details
PMGT2_HUMANNT2NC_HUMANBioGRID25416956 details