MBD4 (methyl-CpG binding domain 4, DNA glycosylase)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8930
Gene name Methyl-CpG binding domain 4, DNA glycosylase
Gene symbol MBD4
Synonyms (NCBI Gene)
MED1TPDS2UVM1
Chromosome 3
Chromosome location 3q21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
447
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (447)
miRTarBase ID miRNA Experiments Reference
MIRT473395 hsa-miR-651-3p PAR-CLIP 20371350
MIRT473394 hsa-miR-4779 PAR-CLIP 20371350
MIRT473393 hsa-miR-1252-5p PAR-CLIP 20371350
MIRT473392 hsa-miR-6770-5p PAR-CLIP 20371350
MIRT473391 hsa-miR-1909-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0003696 Function Satellite DNA binding TAS 9774669
GO:0003824 Function Catalytic activity IEA
GO:0004520 Function DNA endonuclease activity TAS 10097147
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603574 6919 ENSG00000129071
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95243
Protein 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)
Protein function Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyas
PDB 2MOE , 3IHO , 4DK9 , 4E9E , 4E9F , 4E9G , 4E9H , 4EA4 , 4EA5 , 4LG7 , 4OFA , 4OFE , 4OFH , 5CHZ , 6VJW , 7KZ0 , 7KZ1 , 7KZG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01429 MBD 76 → 151 Methyl-CpG binding domain Domain
Sequence 
MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSE
CNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRS
KSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRT
RSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKG
IPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETL
SVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGT
KVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSS
KYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWK
FLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKY
GNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS
Sequence length 580
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Base excision repair   Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MBD4-related disorder Likely pathogenic; Pathogenic rs778697654, rs769552413, rs769076971, rs558765093, rs897132425 RCV004757536
RCV004757594
RCV004757598
RCV003981042
RCV003896710
Melanoma, uveal, susceptibility to, 1 Likely pathogenic; Pathogenic rs558765093, rs778697654, rs200758755 RCV005023267
RCV002274499
RCV002274502
Ovarian serous cystadenocarcinoma Likely pathogenic; Pathogenic rs778697654 RCV005930210
Tumor predisposition syndrome 2 Likely pathogenic; Pathogenic rs558765093, rs778697654, rs148098584, rs200758755, rs1559801181 RCV002274219
RCV002274500
RCV002274501
RCV002274503
RCV002274504
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial pancreatic carcinoma Conflicting classifications of pathogenicity rs78782061 RCV005922670
Hereditary cancer-predisposing syndrome Conflicting classifications of pathogenicity rs758035705 RCV002273258
Malignant lymphoma, large B-cell, diffuse Conflicting classifications of pathogenicity rs199597858 RCV005922712
Nonpapillary renal cell carcinoma Conflicting classifications of pathogenicity rs78782061 RCV005922669
Show/Hide Text Mining Associations (34)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute On Chronic Liver Failure Associate 38452586
Adenoma Associate 35460607
Adenomatous Polyposis Coli Associate 37957685
Aortic Aneurysm Abdominal Associate 31001930
Autistic Disorder Associate 19921286
Breast Neoplasms Associate 29473320
Carcinogenesis Associate 10934138, 23027038
Carcinoma in Situ Associate 24292451
Colorectal Adenomatous Polyposis Autosomal Recessive Associate 35460607
Colorectal Neoplasms Associate 11104560, 17285135, 37402954, 37957685