• Gene id: 8930

Gene Summary

• Gene Symbol: MBD4   Gene   UCSC   Ensembl
• Aliases: MED1
• Gene name: methyl-CpG binding domain 4, DNA glycosylase
• Alternate names: methyl-CpG-binding domain protein 4, 3,N(4)-ethenocytosine glycosylase, G/5-fluorouracil mismatch glycosylase with biphasic kinetics, G/T mismatch glycosylase, G/U mismatch glycosylase, methyl-CpG binding domain protein 4, methyl-CpG-binding endonuclease 1, meth,
• Gene location: 3q21.3 (129440178: 129430943)     Exons: 8     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcriptio
• OMIM: 603574

Protein Summary

• Protein general information: O95243  
  • Name: Methyl CpG binding domain protein 4 (EC 3.2.2. ) (Methyl CpG binding endonuclease 1) (Methyl CpG binding protein MBD4) (Mismatch specific DNA N glycosylase)
  • Length: 580  
  • Mass: 66051
• Sequence:

  MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFG
  ATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRG
  IKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNF
  RKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETL
  SVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDI
  LKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQE
  TLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLT
  KQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS

• Structural information:
  • Protein Domains: (76..14-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338"-)
  • Interpro: IPR016177  IPR011257  IPR017352  IPR001739  
  • Prosite: PS50982
  • PDB: 2MOE 3IHO 4DK9 4E9E 4E9F 4E9G 4E9H 4EA4 4EA5 4LG7 4OFA 4OFE 4OFH 5CHZ
  • PDBsum: 2MOE 3IHO 4DK9 4E9E 4E9F 4E9G 4E9H 4EA4 4EA5 4LG7 4OFA 4OFE 4OFH 5CHZ
  • STRING: ENSP00000249910
• Other Databases: GeneCards:  MBD4  Malacards:  MBD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0000785	chromatin	IBA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008263	pyrimidine-specific mismatch base pair DNA N-glycosylase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003696	satellite DNA binding	TAS	molecular function
GO:0004520	endodeoxyribonuclease activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0008263	pyrimidine-specific mismatch base pair DNA N-glycosylase activity	IDA	molecular function
GO:0045008	depyrimidination	TAS	biological process
GO:0045008	depyrimidination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019104	DNA N-glycosylase activity	TAS	molecular function
GO:0019104	DNA N-glycosylase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03410	Base excision repair

Diseases

Associated diseases	References
colorectal carcinoma	PMID:10637515
lung cancer	PMID:18495292
Esophagus squamous cell carcinoma	PMID:15205355
Esophagus squamous cell carcinoma	PMID:25162968
Rheumatoid arthritis	PMID:20676650
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)