MGAT2 - alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Gene

Also Known as GNT2; CDG2A; CDGS2; GNT-II; GLCNACTII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4247

About MGAT2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,620,799-49,623,481 (from NCBI)

This gene has 1 transcript (splice variant), 178 orthologues and is associated with 3 phenotypes.

Summary

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical Glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MGAT2 Products (2)

mRNA	Protein	Name
NM_002408.4	NP_002399.1	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001015883.1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	7635144	GOA
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IMP IMP: Inferred from mutant phenotype	8808595	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	29666272	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	20378551	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein N-linked glycosylation via asparagine	IDA IDA: Inferred from direct assay	7635144	GOA
involved in protein N-linked glycosylation via asparagine	IMP IMP: Inferred from mutant phenotype	8808595	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	20378551	GOA

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

MGAT2 Protein Structure

MGAT2

0
100
200
300
400
447 a.a.

Protein Preferred Names	Protein Names
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	Beta-1,2-N-acetylglucosaminyltransferase II N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II glcNAc-T II mannoside acetylglucosaminyltransferase 2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

Recombinant MGAT2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70410	MGAT2 Protein, Human (HEK293, His)	Q10469 (R30-Q447)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Humero-Spinal Dysostosis Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ehlers-Danlos Syndrome, Musculocontractural Type 1 EDSMC1 Edsmc Adducted Thumb-Clubfoot Syndrome Atcs Dundar Syndrome Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis Ehlers-Danlos Syndrome Musculocontractural Type 1 Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome Ehlers-Danlos Syndrome, Type Vib, Formerly Eds6b, Formerly Adducted Thumbs-Arthrogryposis Dundar Type Arthrogryposis Distal With Peculiar Facies And Hydronephrosis Eds6b Formerly Ehlers-Danlos Syndrome Type Vib Formerly Ehlers-Danlos, Musculocontractural Syndrome, Type 1
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Ehlers-Danlos Syndrome, Musculocontractural Type 2 EDSMC2 Ehlers-Danlos Syndrome Musculocontractural Type 2 Ehlers-Danlos, Musculocontractural Syndrome, Type 2
Congenital Disorder Of Glycosylation, Type Iia	CDG2A Congenital Disorder Of Glycosylation Type Iia Cdg Iia Cdgiia Mgat2-Cdg Congenital Disorder Of Glycosylation Type 2a Alkuraya Syndrome Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii Cdg-Iia Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly Cdgs2, Formerly Cdgs2 Cdg Syndrome Type Iia Carbohydrate Deficient Glycoprotein Syndrome Type Iia N-Acetylglucosaminyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2a Carbohydrate-Deficient Glycoprotein Syndrome Type Ii Cdgs Type Ii Carbohydrate-Deficient Glycoprotein Syndrome Type 2 Glycosylation, Congenital Disorder Of, Type Iia
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	SEMDJL1 Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1 Semdjl Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures Semdjl-Beighton Type Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type
Spondylometaphyseal Dysplasia, Sedaghatian Type	SMDS Sedaghatian Chondrodysplasia Spondylometaphyseal Dysplasia Sedaghatian Type Congenital Lethal Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia, Congenital Lethal Lethal Metaphyseal Dysplasia
Schwartz-Jampel Syndrome, Type 1	Schwartz-Jampel Syndrome SJS1 Schwartz-Jampel-Aberfeld Syndrome Sjs Chondrodystrophic Myotonia Schwartz-Jampel Syndrome Type 1 Sja Syndrome Aberfeld Syndrome Burton Skeletal Dysplasia Burton Syndrome Catel-Hempel Syndrome Myotonic Chondrodystrophy Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies Osteochondromuscular Dystrophy Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities Schwartz-Jampel Syndrome 1 Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria Schwartz Jampel Syndrome Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities Schwartz Jampel Aberfeld Syndrome Congenital Blepharophimosis, Myopia, Myopathy Syndrome Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Ehlers-Danlos Syndrome Progeroid Type Ehlers-Danlos Syndrome, Progeroid Type, 2 EDSSPD2 Ehlers-Danlos Syndrome Spondylodysplastic Type 2 Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly Edsp2, Formerly Defective Biosynthesis Of Proteodermatan Sulfate Xgpt Deficiency Xylosylprotein 4-Beta-Galactosyltransferase Deficiency B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome B3galt6-Related Speds B3galt6-Related Spondylodysplastic Eds Beta3galt6-Deficient Eds Ehlers-Danlos Syndrome Progeroid Type 2 Speds-B3galt6 Edsp2 Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2 Ehlers-Danlos Syndrome, Progeroid Form
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Rft1-Cdg Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Cdg Syndrome Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-159422	S-309309	Inhibitor	98.55%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-U00430	MGAT2-IN-2	Inhibitor	/	Unkown
HY-181563	MGAT2-IN-6	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MGAT2	VGNC	VGNC:50544
Bos taurus	MGAT2	VGNC	VGNC:54626
Felis catus	MGAT2	VGNC	VGNC:96702
Mus musculus	MGAT2	MGD	MGI:2384966
Rattus norvegicus	MGAT2	RGD	RGD:620098
Others	MGAT2	NCBI