B4GALNT2 - beta-1,4-N-acetyl-galactosaminyltransferase 2 Gene

中文名称：β-1,4-N-乙酰半乳糖氨基转移酶 2

种属: Homo sapiens

同用名: B4GALT; GALGT2

基因 ID: 124872 | 基因类型: protein coding

关于 B4GALNT2

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:49,120,344-49,176,840 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in colon (RPKM 11.5), kidney (RPKM 5.5) and 4 other tissues.

功能概要

B4GALNT2 催化人 Sd (a) 抗原生物合成的最后一步，通过 β-1,4 连接将 N-乙酰半乳糖胺残基添加到被 α-2,3-连接的唾液酸取代的半乳糖残基上. B4GALNT2 还催化 Cad 抗原生物合成的最后一步 (Montiel 等人，2003 [PubMed 12678917]) 。[OMIM 提供，2008 年 3 月]

B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]

B4GALNT2 基因产物(3)

mRNA	Protein	Name
NM_001159387.2	NP_001152859.1	beta-1,4 N-acetylgalactosaminyltransferase 2 isoform b
NM_001159388.2	NP_001152860.1	beta-1,4 N-acetylgalactosaminyltransferase 2 isoform c
NM_153446.3	NP_703147.2	beta-1,4 N-acetylgalactosaminyltransferase 2 isoform a

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 acetylgalactosaminyltransferase activity	IDA IDA: 通过直接分析推断	12678917	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in UDP-N-acetylgalactosamine metabolic process	IDA IDA: 通过直接分析推断	12678917	GOA
involved in negative regulation of cell-cell adhesion	IDA IDA: 通过直接分析推断	16024623	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

B4GALNT2 蛋白结构

Glycos_transf_2

0
100
200
300
400
500
566 a.a.

蛋白主名

其他名称

beta-1,4 N-acetylgalactosaminyltransferase 2

UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase

B4GALNT2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	B4GALNT2	Q8NHY0	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
种属内	B4GALNT2	Q8NHY0	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
种属内	B4GALNT2	Q8NHY0	BSCL2	Homo sapiens	J3KQ12	Y2H Array	32296183
种属内	B4GALNT2	Q8NHY0	BSCL2	Homo sapiens	J3KQ12	Y2H Prey Pooling	32296183
种属内	B4GALNT2	Q8NHY0	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
种属内	B4GALNT2	Q8NHY0	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
种属内	B4GALNT2	Q8NHY0	OTX2	Homo sapiens	P32243-2	Y2H Prey Pooling	32296183
种属内	B4GALNT2	Q8NHY0	OTX2	Homo sapiens	P32243-2	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Blood Group, Sid System

Sd Polyagglutination Syndrome	SID
Sd Blood Group Antigen	SDPS

Failure Of Tooth Eruption, Primary

Primary Failure Of Tooth Eruption	PFE
Primary Retention Of Teeth	Unerupted Second Primary Molar
Dental Noneruption	Familial Posterior Openbite Malocclusion
Primary Failure Of Tooth Eruption, Nonsyndromic	Posterior Openbite Malocclusion, Familial
Nonsyndromic Primary Failure Of Eruption	Dental Non-Eruption
Non-Syndromic Primary Failure Of Eruption	Tooth Eruption, Failure, Primary

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Alpha-Sarcoglycanopathy	Dmda2
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2	Lgmd2d
Muscular Dystrophy, Limb-Girdle, Type 2d	Primary Adhalinopathy

Scarlet Fever

Scarlatina

Scarlatina Nos

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A	Lama2-Related Muscular Dystrophy
Atrophie Blanche	Muscular Dystrophy, Congenital Merosin-Deficient
Congenital Merosin-Deficient Muscular Dystrophy 1a	Merosin-Negative Congenital Muscular Dystrophy
Muscular Dystrophy White Matter Spongiosis	Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy Congenital, Merosin Negative	Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
Cmd1a	Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
Congenital Muscular Dystrophy Type 1a	Laminin Alpha-2 Deficiency
Merosin-Deficient Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital, Merosin-Deficient
Lama2 Md	Laminin Alpha 2 Deficiency
Laminin Alpha-2 Deficient Muscular Dystrophy	Merosin-Deficient Muscular Dystrophy
Muscular Dystrophy Due To Lama2 Deficiency	Merosin-Deficient Congenital Muscular Dystrophy 1a
Cardiomyopathy, Familial Idiopathic

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

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

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-RS01316	B4GALNT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	B4GALNT2	MGD	MGI:1342058
Macaca mulatta	B4GALNT2	VGNC	VGNC:70120
Rattus norvegicus	B4GALNT2	RGD	RGD:1592405
Felis catus	B4GALNT2	VGNC	VGNC:60063
Bos taurus	B4GALNT2	VGNC	VGNC:26386
Canis familiaris	B4GALNT2	VGNC	VGNC:38346

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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）

B4GALNT2 - beta-1,4-N-acetyl-galactosaminyltransferase 2 Gene

关于 B4GALNT2

功能概要

B4GALNT2 基因产物(3)

B4GALNT2 蛋白结构

B4GALNT2 蛋白互作信息

关联疾病

直系同源

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B4GALNT2 - beta-1,4-N-acetyl-galactosaminyltransferase 2 Gene

关于 B4GALNT2

功能概要

B4GALNT2 基因产物(3)

B4GALNT2 蛋白结构

B4GALNT2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

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