InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MGAT2

Summary

InnateDB Protein

IDBP-5733.5

Last Modified

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

Gene Symbol

MGAT2

Protein Name

mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

Synonyms

CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2;

Species

Homo sapiens

Ensembl Protein

ENSP00000307423

InnateDB Gene

IDBG-5731 (MGAT2)

Protein Structure

UniProt Annotation

Function

Catalyzes an essential step in the conversion of oligo- mannose to complex N-glycans.

Subcellular Localization

Golgi apparatus membrane; Single-pass type II membrane protein.

Disease Associations

Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:11228641, ECO:0000269PubMed:8808595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	1 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008455	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity
GO:0030246	carbohydrate binding

Biological Process

GO:0006487	protein N-linked glycosylation
GO:0009311	oligosaccharide metabolic process
GO:0009312	oligosaccharide biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process