MBD4 - methyl-CpG binding domain 4, DNA glycosylase Gene

中文名称：甲基-CpG 结合域 4，DNA 糖基化酶

种属: Homo sapiens

同用名: MED1; TPDS2

基因 ID: 8930 | 基因类型: protein coding

关于 MBD4

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:129,430,947-129,439,948 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 27.7), spleen (RPKM 17.6) and 25 other tissues.

功能概要

由该基因编码的蛋白质是与甲基-CpG 结合结构域 (MBD) 相关的核蛋白家族的成员。这些蛋白质能够与甲基化 DNA 特异性结合，一些成员还可以抑制甲基化基因启动子的转录。该蛋白质在 N 末端包含一个 MBD 结构域，它在结合甲基化 DNA 和蛋白质相互作用方面发挥作用，并在 C 末端包含一个参与 DNA 修复的错配特异性糖基化酶结构域。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2013 年 1 月]

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

MBD4 基因产物(5)

mRNA	Protein	Name
NM_001276270.2	NP_001263199.1	methyl-CpG-binding domain protein 4 isoform 2
NM_001276271.2	NP_001263200.1	methyl-CpG-binding domain protein 4 isoform 3
NM_001276272.2	NP_001263201.1	methyl-CpG-binding domain protein 4 isoform 4
NM_001276273.2	NP_001263202.1	methyl-CpG-binding domain protein 4 isoform 5
NM_003925.3	NP_003916.1	methyl-CpG-binding domain protein 4 isoform 1

基因本体论

分子功能

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	12702765	GOA
enables pyrimidine-specific mismatch base pair DNA N-glycosylase activity	IDA IDA: 通过直接分析推断	14614141	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

MBD4 蛋白结构

MBD

HhH-GPD

0
100
200
300
400
500
580 a.a.

蛋白主名

其他名称

methyl-CpG-binding domain protein 4

3,N(4)-ethenocytosine glycosylase

MBD4 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	MBD4	O95243	FADD	Homo sapiens	Q13158	Pull Down	12702765

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

Tumor Predisposition Syndrome 2

TPDS2	Mbd4-Associated Neoplasia Syndrome
Mans	Man

Melanoma, Uveal 1

Melanoma, Uveal, Susceptibility To, 1	UVM1
Uveal Melanoma, Susceptibility To, 1	Uveal Melanoma 1

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

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome	Common Syndrome
Bap1 Cancer Syndrome	Bap1-Tpds
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms	Tumor Predisposition Syndrome
Tumor Susceptibility Linked To Germline Bap1 Mutations	Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Tumor Predisposition

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement	MPD4
Williams Distal Myopathy	Distal Muscular Dystrophy 4
Distal Abd-Filaminopathy	Distal Myopathy 4
Myopathy, Distal, Type 4

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome	Immunodeficiency Syndrome, Variable
Ciid	Centromeric Instability, Immunodeficiency Syndrome
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16	Icf

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Melanoma, Uveal

Uveal Melanoma	Choroidal Melanoma
Melanoma Of Uvea	Iris Melanoma
Malignant Melanoma Of Choroid	Malignant Melanoma Of Iris

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-RS08184	MBD4 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	MBD4	VGNC	VGNC:31276
Mus musculus	MBD4	MGD	MGI:1333850
Macaca mulatta	MBD4	VGNC	VGNC:74671
Canis familiaris	MBD4	VGNC	VGNC:43052
Rattus norvegicus	MBD4	RGD	RGD:1585874
Felis catus	MBD4	VGNC	VGNC:68200

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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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