LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 Gene

中文名称：大木糖基和葡萄糖醛酸转移酶 2

种属: Homo sapiens

同用名: PP5656; GYLTL1B

基因 ID: 120071 | 基因类型: protein coding

关于 LARGE2

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,921,621-45,929,096 (from NCBI)

This gene has 10 transcripts (splice variants), 220 orthologues and 5 paralogues. Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues.

功能概要

预测启用抗肌萎缩蛋白聚糖结合活性；葡萄糖醛酸转移酶活性；和木糖基转移酶活性。参与蛋白质 O-连接的甘露糖基化。预计位于细胞内膜界细胞器中。预测在高尔基体中活跃。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable dystroglycan binding activity; glucuronosyltransferase activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

LARGE2 基因产物(3)

mRNA	Protein	Name
NM_001300721.2	NP_001287650.1	xylosyl- and glucuronyltransferase LARGE2 isoform a precursor
NM_001300722.2	NP_001287651.1	xylosyl- and glucuronyltransferase LARGE2 isoform b
NM_152312.5	NP_689525.3	xylosyl- and glucuronyltransferase LARGE2 isoform a precursor

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	19587235	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein O-linked mannosylation	IDA IDA: 通过直接分析推断	25138275	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

LARGE2 蛋白结构

Glyco_transf_8

Glyco_transf_49

0
200
400
600
721 a.a.

蛋白主名

其他名称

xylosyl- and glucuronyltransferase LARGE2

glycosyltransferase-like 1B

关联疾病

疾病名称

别名

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6	MDDGB6
Mdc1d	Muscular Dystrophy, Congenital, Type 1d
Congenital Muscular Dystrophy Type 1d	Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Large-Related	Congenital Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6	Muscular Dystrophy Large-Related

Brazilian Hemorrhagic Fever

Sabia Hemorrhagic Fever

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n	Lgmd2n
MDDGC2	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
Lgmdr14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
Limb-Girdle Muscular Dystrophy Type 2n	Muscular Dystrophy, Limb-Girdle, Type 2n
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related	Muscular Dystrophy-Dystroglycanopathy Type C 2
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Lgmd Type 2n
Pomt2-Related Lgmd R14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
Mdgd2c	Dystrophy, Muscular, Limb-Girdle, Type 2n

Septic Myocarditis

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

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

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy	Fcmd
MDDGA4	Fukuyama Type Congenital Muscular Dystrophy
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related	Cerebromuscular Dystrophy, Fukuyama Type
Fukuyama Cmd	Fukuyama Muscular Dystrophy
Fukuyama Syndrome	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Polymicrogyria With Muscular Dystrophy	Congenital Muscular Dystrophy, Fukuyama Type
Fktn-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
Cerebromuscular Dystrophy Fukuyama Type	Congenital Muscular Dystrophy Fukuyama Type
Micropolygyria With Muscular Dystrophy	Muscle-Eye-Brain Disease Fktn-Related
Walker-Warburg Syndrome Fktn-Related

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies	Mddga
Klissencephaly Type 2 With Muscular And Ocular Involvement	Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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-RS07525	LARGE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21879	Large2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28396	Large2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	LARGE2	VGNC	VGNC:63191
Bos taurus	LARGE2	VGNC	VGNC:30789
Canis familiaris	LARGE2	VGNC	VGNC:42586
Macaca mulatta	LARGE2	VGNC	VGNC:74060
Rattus norvegicus	LARGE2	RGD	RGD:735214
Mus musculus	LARGE2	MGD	MGI:2443769

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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）

LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 Gene

关于 LARGE2

功能概要

LARGE2 基因产物(3)

LARGE2 蛋白结构

关联疾病

直系同源

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LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 Gene

关于 LARGE2

功能概要

LARGE2 基因产物(3)

LARGE2 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