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

Homo sapiens

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

Gene ID: 4247 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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%

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-159422	S-309309	Inhibitor	/	Unkown
HY-U00430	MGAT2-IN-2	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

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