ALG2 - ALG2 alpha-1,3/1,6-mannosyltransferase Gene

中文名称：ALG2 α-1,3/1,6-甘露糖基转移酶

种属: Homo sapiens

同用名: CDG1I; CDGIi; CMS14; NET38; CMSTA3; hALPG2

基因 ID: 85365 | 基因类型: protein coding

关于 ALG2

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:99,216,425-99,221,942 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 18.5), adrenal (RPKM 14.8) and 25 other tissues.

功能概要

该基因编码糖基转移酶 1 家族的一个成员。编码的蛋白质充当 alpha 1,3 甘露糖基转移酶，甘露糖化 Man (2) GlcNAc (2) -dolichol 二磷酸和 Man (1) GlcNAc (2) -dolichol 二磷酸，形成 Man (3) GlcNAc (2) -dolichol 二磷酸。该基因的缺陷与 Ih 型糖基化 (CDG-Ii) 的先天性疾病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2008 年 11 月]

This gene encodes a member of the Glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

ALG2 基因产物(1)

mRNA	Protein	Name
NM_033087.4	NP_149078.1	alpha-1,3/1,6-mannosyltransferase ALG2

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 GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity	IDA IDA: 通过直接分析推断	12684507	GOA
enables GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity	IDA IDA: 通过直接分析推断	12684507	GOA
enables alpha-1,3-mannosyltransferase activity	IDA IDA: 通过直接分析推断	35136180	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in dolichol-linked oligosaccharide biosynthetic process	IDA IDA: 通过直接分析推断	35136180	GOA
involved in dolichol-linked oligosaccharide biosynthetic process	IGI IGI: 通过遗传相互作用推断	12684507	GOA
acts upstream of positive effect protein N-linked glycosylation	IDA IDA: 通过直接分析推断	35136180	GOA
involved in protein glycosylation	IGI IGI: 通过遗传相互作用推断	12684507	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	35136180	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

ALG2 蛋白结构

Glyco_trans_4_4

Glycos_transf_1

0
100
200
300
416 a.a.

蛋白主名

其他名称

alpha-1,3/1,6-mannosyltransferase ALG2

GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase

关联疾病

疾病名称

别名

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14	CMS14
Cmsta3	Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates	Congenital Myasthenic Syndrome 14, With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 3	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iia

CDG2A	Congenital Disorder Of Glycosylation Type Iia
Cdg Iia	Cdgiia
Congenital Disorder Of Glycosylation Type 2a	Alkuraya Syndrome
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Mgat2-Cdg	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

Congenital Myasthenic Syndromes With Glycosylation Defect

Congenital Disorder Of Glycosylation, Type Ih

CDG1H	Cdg Ih
Cdgih	Congenital Disorder Of Glycosylation 1h
Cdg-Ih	Congenital Disorder Of Glycosylation Type 1h
Congenital Disorder Of Glycosylation Type Ih	Congenital Disorder Of Glycosylation Ih
Alg8-Cdg	Cdg Syndrome Type Ih
Carbohydrate Deficient Glycoprotein Syndrome Type Ih	Glucosyltransferase 2 Deficiency
Glycosylation, Congenital Disorder Of, Type Ih

Congenital Disorder Of Glycosylation, Type Iid

CDG2D	Congenital Disorder Of Glycosylation Type Iid
Cdg Iid	Cdgiid
B4galt1-Cdg	Cdg-Iid
Congenital Disorder Of Glycosylation Type 2d	Beta-1,4-Galactosyltransferase Deficiency
Cdg Syndrome Type Iid	Carbohydrate Deficient Glycoprotein Syndrome Type Iid
Congenital Disorder Of Glycosylation 2d	Glycosylation, Congenital Disorder Of, Type Iid
Congenital Disorder Of Glycosylation, Type Iiid

Congenital Disorder Of Glycosylation, Type Iib

CDG2B	CDGIIB
Glucosidase I Deficiency	Congenital Disorder Of Glycosylation Type Iib
Cdg Iib	Mogs-Cdg
Cdg Syndrome Type Iib	Cdg-Iib
Carbohydrate Deficient Glycoprotein Syndrome Type Iib	Congenital Disorder Of Glycosylation Type 2b
Glucosidase 1 Deficiency	Type Iib Congenital Disorder Of Glycosylation
Glycosylation, Congenital Disorder Of, Type Iib

Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance	Fructose Intolerance
Fructose-1-Phosphate Aldolase Deficiency	Fructose-1,6-Bisphosphate Aldolase B Deficiency
Aldolase B Deficiency	Fructosemia
Aldob Deficiency	Hereditary Fructose Intolerance Syndrome
HFI	Fructosaemia
Hereditary Fructose-1-Phosphate Aldolase Deficiency	Fructose Aldolase B Deficiency
Fructose-1,6-Biphosphate Aldolase Deficiency	Hereditary Fructosemia
Fructosemia, Hereditary	Hereditary Fructosaemia
Fructose-Biphosphate Aldolase B Deficiency	Fructose Intolerance Of Newborn
Aldb - [Aldolase B] Deficiency	Deficiency Of Fructose-Bisphosphate Aldolase

Congenital Disorder Of Glycosylation, Type Iif

CDG2F	Congenital Disorder Of Glycosylation Type Iif
Cdg Iif	Cdgiif
Carbohydrate Deficient Glycoprotein Syndrome Type Iif	Cmp-Sialic Acid Transporter Deficiency
Slc35a1-Cdg	Cdg-Iif
Cdgiidf	Cdg Syndrome Type Iif
Congenital Disorder Of Glycosylation Type 2f	Congenital Disorder Of Glycosylation 2f
Glycosylation, Congenital Disorder Of, Type Iif

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type Iik

CDG2K	Congenital Disorder Of Glycosylation Type Iik
Cdg Iik	Cdgiik
Carbohydrate Deficient Glycoprotein Syndrome Type Iik	Cdg Syndrome Type Iik
Congenital Disorder Of Glycosylation Type 2k	Tmem165-Cdg
Cdg-Iik	Cdgiidk
Congenital Disorder Of Glycosylation 2k	Glycosylation, Congenital Disorder Of, Type Iik

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Congenital Disorder Of Glycosylation, Type Iii

CDG2I	Congenital Disorder Of Glycosylation Type Iii
Cdgiii	Carbohydrate Deficient Glycoprotein Syndrome Type Iii
Congenital Disorder Of Glycosylation Type 2i	Cog5-Cdg
Cdgiidi	Congenital Disorder Of Glycosylation 2i
Glycosylation, Congenital Disorder Of, Type Iii	Congenital Disorder Of Glycosylation, Type I-Iix

Congenital Disorder Of Glycosylation, Type Iih

CDG2H	Congenital Disorder Of Glycosylation Type Iih
Cdg Iih	Cdgiih
Carbohydrate Deficient Glycoprotein Syndrome Type Iih	Congenital Disorder Of Glycosylation Type 2h
Cog8-Cdg	Cdg-Iih
Cdgiidh	Cdg Syndrome Type Iih
Congenital Disorder Of Glycosylation 2h	Glycosylation, Congenital Disorder Of, Type Iih

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2	Mddga2
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2

Congenital Disorder Of Glycosylation, Type Iio

CDG2O	Ccdc115-Cdg
Cdg Iio	Congenital Disorder Of Glycosylation Type Iio
Cdgiio	Carbohydrate Deficient Glycoprotein Syndrome Type Iio
Cdg Syndrome Type Iio	Congenital Disorder Of Glycosylation Type 2o
Cdg-Iio	Cdgiido
Congenital Disorder Of Glycosylation 2o	Glycosylation, Congenital Disorder Of, Type Iio

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Congenital Disorder Of Glycosylation, Type Iip

CDG2P	Tmem199-Cdg
Cdg Iip	Congenital Disorder Of Glycosylation Type Iip
Cdgiip	Carbohydrate Deficient Glycoprotein Syndrome Type Iip
Cdg Syndrome Type Iip	Congenital Disorder Of Glycosylation Type 2p
Cdg-Iip	Cdgiidp
Congenital Disorder Of Glycosylation 2p

Wrinkly Skin Syndrome

WSS	Wrinkled Skin Syndrome

Fructose-1,6-Bisphosphatase Deficiency

Fructose-1,6-Diphosphatase Deficiency	Baker-Winegrad Disease
FBP1D	Fbpase Deficiency
Fructose 1,6 Diphosphatase Deficiency	Fructose 1 Phosphate Aldolase Deficiency
Fbp1 Deficiency	Hereditary Fructose Intolerance Syndrome

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg 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	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Congenital Disorder Of Glycosylation, Type Iij

CDG2J	Congenital Disorder Of Glycosylation Type Iij
Cdg Iij	Cdgiij
Carbohydrate Deficient Glycoprotein Syndrome Type Iij	Cdg Syndrome Type Iij
Congenital Disorder Of Glycosylation Type 2j	Cog4-Cdg
Cdg-Iij	Cdgiidj
Congenital Disorder Of Glycosylation 2j	Glycosylation, Congenital Disorder Of, Type Iij

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS00592	ALG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	ALG2	VGNC	VGNC:25827
Mus musculus	ALG2	MGD	MGI:1914731
Canis familiaris	ALG2	VGNC	VGNC:37797
Felis catus	ALG2	VGNC	VGNC:59745
Rattus norvegicus	ALG2	RGD	RGD:1309940
Macaca mulatta	ALG2	VGNC	VGNC:69672

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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）

ALG2 - ALG2 alpha-1,3/1,6-mannosyltransferase Gene

关于 ALG2

功能概要

ALG2 基因产物(1)

ALG2 蛋白结构

关联疾病

直系同源

热门区域

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ALG2 - ALG2 alpha-1,3/1,6-mannosyltransferase Gene

关于 ALG2

功能概要

ALG2 基因产物(1)

ALG2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z