Endometriosis Knowledgebase

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Gene id

8932

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MBD2 Gene UCSC Ensembl

Aliases

DMTase, NY-CO-41

Gene name

methyl-CpG binding domain protein 2

Alternate names

methyl-CpG-binding domain protein 2, demethylase,

Gene location

18q21.2 (14117255: 14136917) Exons: 6 NC_000006.12

Gene summary(Entrez)

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]

OMIM

603547

Protein Summary

Protein general information

Q9UBB5

Name: Methyl-CpG-binding domain protein 2 (Demethylase) (DMTase) (Methyl-CpG-binding protein MBD2)

Length: 411 Mass: 43,255

Tissue specificity: Highly expressed in brain, heart, kidney, stomach, testis and placenta. {ECO

Sequence

MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAPSPVSGVRREGARGGGRGRGRWKQAGRGGGVCG
RGRGRGRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGGAPRREPVPFPSGSAGPGPRGPRATESGKRM
DCPALPPGWKKEEVIRKSGLSAGKSDVYYFSPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRL
RNDPLNQNKGKPDLNTTLPIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQII
KTMELPKGLQGVGPGSNDETLLSAVASALHTSSAPITGQVSAAVEKNPAVWLNTSQPLCKAFIVTDEDIRKQEER
VQQVRKKLEEALMADILSRAADTEEMDIEMDSGDEA

Structural information

Protein Domains	MBD. (145-213)
Interpro:	IPR016177 IPR032343 IPR025884 IPR001739
Prosite:	PS50982
Pfam:	PF01429 PF14048 PF16564
PDB:	2L2L 6C1A 6C1T 6C1U 6C1V 6C2F 6CNP 6CNQ
PDBsum:	2L2L 6C1A 6C1T 6C1U 6C1V 6C2F 6CNP 6CNQ
MINT:
STRING:	ENSP00000256429;

Other Databases

GeneCards: MBD2; Malacards: MBD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000118	histone deacetylase compl ex	IEA	cellular_component
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0000183	chromatin silencing at rD NA	TAS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000792	heterochromatin	IEA	cellular_component
GO:0003696	satellite DNA binding	TAS	molecular_function
GO:0003729	mRNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006346	methylation-dependent chr omatin silencing	IBA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0008327	methyl-CpG binding	NAS	molecular_function
GO:0008327	methyl-CpG binding	IDA	molecular_function
GO:0008327	methyl-CpG binding	IDA	molecular_function
GO:0019904	protein domain specific b inding	IPI	molecular_function
GO:0030177	positive regulation of Wn t signaling pathway	IEA	biological_process
GO:0035197	siRNA binding	IEA	molecular_function
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042711	maternal behavior	IEA	biological_process
GO:0043044	ATP-dependent chromatin r emodeling	IDA	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0043623	cellular protein complex assembly	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0031492	nucleosomal DNA binding	IDA	molecular_function
GO:0000118	histone deacetylase compl ex	IEA	cellular_component
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0000183	chromatin silencing at rD NA	TAS	biological_process
GO:0000785	chromatin	IEA	cellular_component
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000792	heterochromatin	IEA	cellular_component
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003696	satellite DNA binding	TAS	molecular_function
GO:0003729	mRNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006346	methylation-dependent chr omatin silencing	IBA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0008327	methyl-CpG binding	IEA	molecular_function
GO:0008327	methyl-CpG binding	NAS	molecular_function
GO:0008327	methyl-CpG binding	IDA	molecular_function
GO:0008327	methyl-CpG binding	IDA	molecular_function
GO:0019904	protein domain specific b inding	IPI	molecular_function
GO:0030177	positive regulation of Wn t signaling pathway	IEA	biological_process
GO:0035197	siRNA binding	IEA	molecular_function
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042711	maternal behavior	IEA	biological_process
GO:0043044	ATP-dependent chromatin r emodeling	IDA	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0043623	cellular protein complex assembly	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0031492	nucleosomal DNA binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0000183	chromatin silencing at rD NA	TAS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0003696	satellite DNA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006346	methylation-dependent chr omatin silencing	IBA	biological_process
GO:0008327	methyl-CpG binding	NAS	molecular_function
GO:0008327	methyl-CpG binding	IDA	molecular_function
GO:0008327	methyl-CpG binding	IDA	molecular_function
GO:0019904	protein domain specific b inding	IPI	molecular_function
GO:0043044	ATP-dependent chromatin r emodeling	IDA	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0045892	negative regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0031492	nucleosomal DNA binding	IDA	molecular_function

Diseases

Associated diseases	References
Adenocarcinoma	GAD20453000
Lymphoma	GAD18830263
Lung cancer	GAD19170196
Chronic obstructive pulmonary disease (COPD)	GAD19625176
Breast cancer	GAD19124506
Breast cancer	GAD16168120
Bladder cancer	GAD19692168
Endometriosis	PubMed21316665

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21316665	Endometrio sis					DNMT1 DNMT2 and DNMT3B and MBD1 �MBD2 and MeCP2	Show abstract