MBD2 - methyl-CpG binding domain protein 2 Gene

Homo sapiens

Also known as DMTase; NY-CO-41

Gene ID: 8932 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables C2H2 zinc finger domain binding	IPI IPI: Inferred from physical interaction	11553631	GOA
enables methyl-CpG binding	IDA IDA: Inferred from direct assay	21029866	GOA
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	25753662	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12183469	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	11984006	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA methylation-dependent heterochromatin formation	IGI IGI: Inferred from genetic interaction	23770133	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	9790534	GOA
involved in negative regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	23770133	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of NuRD complex	IDA IDA: Inferred from direct assay	33283408	GOA
located in chromatin	IDA IDA: Inferred from direct assay	20523938	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11553631	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBD2 Protein Structure

MBD

MBD_C

0
100
200
300
411 a.a.

Protein Preferred Names

Protein Names

methyl-CpG-binding domain protein 2

demethylase

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131031	KCC-07		99.95%	Unkown
HY-RS08182	MBD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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