MBD2 - methyl-CpG binding domain protein 2 Gene

中文名称：甲基-CpG 结合域蛋白 2

种属: Homo sapiens

同用名: DMTase; NY-CO-41

基因 ID: 8932 | 基因类型: protein coding

关于 MBD2

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:54,151,606-54,224,669 (from NCBI)

This gene has 5 transcripts (splice variants), 122 orthologues and 8 paralogues. Ubiquitous expression in thyroid (RPKM 19.7), lymph node (RPKM 18.4) and 25 other tissues.

功能概要

DNA 甲基化是真核生物基因组的主要修饰，在哺乳动物发育中起着至关重要的作用。人类蛋白质 MECP2、MBD1、MBD2、MBD3 和 MBD4 包含一个核蛋白家族，这些核蛋白与每个甲基-CpG 结合域 (MBD) 中的存在相关。除 MBD3 外，这些蛋白质中的每一种都能够特异性结合甲基化 DNA。 MECP2、MBD1 和 MBD2 也可以抑制甲基化基因启动子的转录。由该基因编码的蛋白质可能作为甲基化信号生物学后果的介体发挥作用。另据报道，由于 DNA 甲基化会导致基因沉默，因此该蛋白可作为去甲基化酶激活转录。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2011 年 2 月]

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

MBD2 基因产物(2)

mRNA	Protein	Name
NM_003927.5	NP_003918.1	methyl-CpG-binding domain protein 2 isoform 1
NM_015832.6	NP_056647.1	methyl-CpG-binding domain protein 2 testis-specific isoform

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 C2H2 zinc finger domain binding	IPI IPI: 通过物理相互作用推断	11553631	GOA
enables methyl-CpG binding	IDA IDA: 通过直接分析推断	21029866	GOA
enables molecular adaptor activity	EXP EXP: 通过实验结果推断	25753662	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12183469	GOA
enables protein domain specific binding	IPI IPI: 通过物理相互作用推断	11984006	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA methylation-dependent heterochromatin formation	IGI IGI: 通过遗传相互作用推断	23770133	GOA
involved in chromatin remodeling	IDA IDA: 通过直接分析推断	9790534	GOA
involved in negative regulation of transcription by RNA polymerase II	IGI IGI: 通过遗传相互作用推断	23770133	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of NuRD complex	IDA IDA: 通过直接分析推断	33283408	GOA
located in chromatin	IDA IDA: 通过直接分析推断	20523938	GOA
located in nucleus	IDA IDA: 通过直接分析推断	11553631	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

MBD2 蛋白结构

MBD

MBD_C

0
100
200
300
411 a.a.

蛋白主名

其他名称

methyl-CpG-binding domain protein 2

demethylase

MBD2 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
Intra	MBD2	Q9UBB5	PURB	Homo sapiens	Q96QR8	Y2H Prey Pooling	32296183
Intra	MBD2	Q9UBB5	PURB	Homo sapiens	Q96QR8	Y2H Array	32296183
Intra	MBD2	Q9UBB5	GATAD2A	Homo sapiens	Q86YP4	FPS	25753662
Intra	MBD2	Q9UBB5	GATAD2A	Homo sapiens	Q86YP4	Pull Down	16415179
Intra	MBD2	Q9UBB5	GATAD2A	Homo sapiens	Q86YP4	NMR	25753662

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

Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy	ADCADN
Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy	Adca-Dn Syndrome
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Adca-Dn
Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome	Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Hutchinson-Gilford Progeria Syndrome

Progeria	HGPS
Hutchinson-Gilford Syndrome	Hutchinson-Gilford Progeria
Hutchinson Gilford Syndrome	Hutchinson Gilford Progeria Syndrome
Hutchinson-Gilford Disease	Progeria Of Childhood
Hutchinson-Gilford-Progeria Syndrome

Klatskin'S Tumor

Klatskin Tumor	Hilar Cholangiocarcinoma
Perihilar Cholangiocarcinoma	Hilar Cholangiocellular Carcinoma
Klatskin Tumour	Klatskin'S Tumour
Perihilar Extrahepatic Bile Duct Carcinoma	Hilar Cca
Adenocarcinoma Of Hepatic Duct	Klatskin Tumour Of Biliary Tree

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

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-131031	KCC-07		99.95%	否
HY-RS08182	MBD2 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	MBD2	MGD	MGI:1333813
Canis familiaris	MBD2	VGNC	VGNC:59230
Macaca mulatta	MBD2	VGNC	VGNC:74670
Rattus norvegicus	MBD2	RGD	RGD:1595452
Bos taurus	MBD2	VGNC	VGNC:56368
Felis catus	MBD2	VGNC	VGNC:80452

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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）

MBD2 - methyl-CpG binding domain protein 2 Gene

关于 MBD2

功能概要

MBD2 基因产物(2)

MBD2 蛋白结构

MBD2 蛋白互作信息

关联疾病

直系同源

热门区域

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MBD2 - methyl-CpG binding domain protein 2 Gene

关于 MBD2

功能概要

MBD2 基因产物(2)

MBD2 蛋白结构

MBD2 蛋白互作信息

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