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

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8930
Gene name Gene Name - the full gene name approved by the HGNC.
Methyl-CpG binding domain 4, DNA glycosylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MBD4
Synonyms (NCBI Gene) Gene synonyms aliases
MED1, TPDS2, UVM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TPDS2, UVM1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IBA 21873635
GO:0003696 Function Satellite DNA binding TAS 9774669
GO:0004520 Function Endodeoxyribonuclease activity TAS 10097147
GO:0005515 Function Protein binding IPI 12702765
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603574 6919 ENSG00000129071
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 19921286
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
TUMOR PREDISPOSITION SYNDROME tumor predisposition syndrome 2 GenCC
Melanoma melanoma, uveal, susceptibility to, 1 SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GenCC, CBGDA
Show/Hide Text Mining Associations (34)
Associations from Text Mining
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