• Gene id: 53615

Gene Summary

• Gene Symbol: MBD3   Gene   UCSC   Ensembl
• Gene name: methyl-CpG binding domain protein 3
• Alternate names: methyl-CpG-binding domain protein 3,
• Gene location: 19p13.3 (1592864: 1573595)     Exons: 7     NC_000019.10
• Gene summary(Entrez): DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encod
• OMIM: 606228

Protein Summary

• Protein general information: O95983  
  • Name: Methyl CpG binding domain protein 3 (Methyl CpG binding protein MBD3)
  • Length: 291  
  • Mass: 32844
• Sequence:

  MERKRWECPALPQGWEREEVPRRSGLSAGHRDVFYYSPSGKKFRSKPQLARYLGGSMDLSTFDFRTGKMLMSKMN
  KSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFD
  IAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKNPGVWLNTTQPLCKAFMVTDEDI
  RKQEELVQQVRKRLEEALMADMLAHVEELARDGEAPLDKACAEDDDEEDEEEEEEEPDPDPEMEHV

• Structural information:
  • Protein Domains: (1..7-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338"-)
  • Interpro: IPR016177  IPR032343  IPR037965  IPR025884  IPR001739  
  • Prosite: PS50982
  • PDB: 2MB7 6CC8 6CCG 6CEU 6CEV
  • PDBsum: 2MB7 6CC8 6CCG 6CEU 6CEV
  • DIP: 46517
  • STRING: ENSP00000412302
• Other Databases: GeneCards:  MBD3  Malacards:  MBD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006346	DNA methylation-dependent heterochromatin assembly	IBA	biological process
GO:0008327	methyl-CpG binding	IBA	molecular function
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0016581	NuRD complex	IEA	cellular component
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0008327	methyl-CpG binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016581	NuRD complex	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0000792	heterochromatin	IEA	cellular component
GO:0048568	embryonic organ development	IEA	biological process
GO:0044030	regulation of DNA methylation	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0006346	DNA methylation-dependent heterochromatin assembly	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0016581	NuRD complex	NAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0032991	protein-containing complex	HDA	cellular component
GO:0031492	nucleosomal DNA binding	HDA	contributes to
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:0000790	nuclear chromatin	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq