• Gene id: 8932

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 (54224787: 54151600)     Exons: 8     NC_000018.10
• 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 bi
• 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
• Sequence:

  MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAPSPVSGVRREGARGGGRGRGRWKQAGRGGGVCG
  RGRGRGRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGGAPRREPVPFPSGSAGPGPRGPRATESGKRM
  DCPALPPGWKKEEVIRKSGLSAGKSDVYYFSPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRL
  RNDPLNQNKGKPDLNTTLPIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQII
  KTMELPKGLQGVGPGSNDETLLSAVASALHTSSAPITGQVSAAVEKNPAVWLNTSQPLCKAFIVTDEDIRKQEER
  VQQVRKKLEEALMADILSRAADTEEMDIEMDSGDEA

• Structural information:
  • Protein Domains: MBD. (145-213)
  • Interpro: IPR016177  IPR032343  IPR025884  IPR001739  
  • Prosite: PS50982
  • PDB: 2L2L 6C1A 6C1T 6C1U 6C1V 6C2E 6C2F 6C2K
  • PDBsum: 2L2L 6C1A 6C1T 6C1U 6C1V 6C2E 6C2F 6C2K
  • STRING: ENSP00000256429
• Other Databases: GeneCards:  MBD2  Malacards:  MBD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000118	histone deacetylase complex	IEA	cellular component
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0000183	chromatin silencing at rDNA	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 chromatin silencing	IBA	biological process
GO:0006351	transcription, DNA-templated	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 binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0035197	siRNA binding	IEA	molecular function
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IDA	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043623	cellular protein complex assembly	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0070742	C2H2 zinc finger domain binding	IPI	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IDA	molecular function
GO:0031492	nucleosomal DNA binding	IDA	molecular function
GO:0000118	histone deacetylase complex	IEA	cellular component
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0000183	chromatin silencing at rDNA	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 chromatin silencing	IBA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, 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 binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0035197	siRNA binding	IEA	molecular function
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IDA	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043623	cellular protein complex assembly	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0070742	C2H2 zinc finger domain binding	IPI	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IDA	molecular function
GO:0031492	nucleosomal DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0000183	chromatin silencing at rDNA	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 chromatin 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 binding	IPI	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IDA	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0070742	C2H2 zinc finger domain binding	IPI	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IDA	molecular function
GO:0031492	nucleosomal DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Cancer (lung)	GAD: 18676680
Cancer (bladder)	GAD: 19692168
Cancer (esophageal)	GAD: 20453000
Cancer (lymphoma)	GAD: 18830263
Cancer (breast)	GAD: 16168120
Diabetic nephropathy	GAD: 19690890
Diabetes	GAD: 19690890
Important for epigenetic reprogramming during spermatogenesis	MIK: 19471314
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Important for epigenetic reprogramming during spermatogenesis.	MIK: 19471314
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19471314	Important for epigenetic reprogramming during spermatogenesis.				Male infertility	MBD1 and MBD2 isoforms MBD3L1 SUVH39H2 BRDT and EZH2
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray