MBD2 - methyl-CpG binding domain protein 2 Gene

Also Known as DMTase; NY-CO-41

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8932

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	References	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	References	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	References	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

MBD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

MBD2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82534	MBD2 Antibody (YA2279)	WB, IHC-P, ICC/IF	Human

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

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131031	KCC-07		99.97%	Unkown
HY-RS08182	MBD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-128562	CS-1-69		/	Unkown
HY-179238	CS-1-103	Inhibitor	/	Unkown
HY-186232	CS-1-102		/	Unkown
HY-186233	CS-1-174	Inhibitor	/	Unkown
HY-RS03948	DPEP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17814	Mbd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18658	Dpep2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24283	Mbd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MBD2	NCBI