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

中文名称：α-1,6-甘露糖糖蛋白 2-β-N-乙酰氨基葡萄糖转移酶

种属: Homo sapiens

同用名: GNT2; CDG2A; CDGS2; GNT-II; GLCNACTII

基因 ID: 4247 | 基因类型: protein coding

关于 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.

功能概要

该基因的产物是一种高尔基体酶，可催化低聚甘露糖转化为复合 N-聚糖的重要步骤。该酶具有典型的糖基转移酶结构域：一个短的 N 末端胞质结构域、一个疏水性不可切割信号锚结构域和一个 C 末端催化结构域。该基因的突变可能导致碳水化合物缺乏糖蛋白综合征，II 型。该基因的编码区是无内含子的。可能存在具有拼接 5' UTR 的转录变体，但尚未确定其生物学有效性。[RefSeq 提供，2008 年 7 月]

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 基因产物(2)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IDA IDA: 通过直接分析推断	7635144	GOA
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	IMP IMP: 通过突变表型推断	8808595	GOA
enables manganese ion binding	IDA IDA: 通过直接分析推断	29666272	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	20378551	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein N-linked glycosylation via asparagine	IDA IDA: 通过直接分析推断	7635144	GOA
involved in protein N-linked glycosylation via asparagine	IMP IMP: 通过突变表型推断	8808595	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi membrane	IDA IDA: 通过直接分析推断	20378551	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MGAT2 蛋白结构

MGAT2

0
100
200
300
400
447 a.a.

蛋白主名

其他名称

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

重组 MGAT2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70410	MGAT2 Protein, Human (HEK293, His)	Q10469 (R30-Q447)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-159422	S-309309	Inhibitor	/	否
HY-U00430	MGAT2-IN-2	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 MGAT2

功能概要

MGAT2 基因产物(2)

MGAT2 蛋白结构

重组 MGAT2 蛋白

关联疾病

直系同源

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

关于 MGAT2

功能概要

MGAT2 基因产物(2)

MGAT2 蛋白结构

重组 MGAT2 蛋白

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z