Property Summary

NCBI Gene PubMed Count 60
PubMed Score 96.64
PubTator Score 77.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (22)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.444 6.6e-03
Multiple myeloma 1.386 1.4e-03
malignant mesothelioma 1.100 2.0e-06
astrocytic glioma 1.300 2.6e-03
ependymoma 1.400 4.5e-03
oligodendroglioma 1.100 6.7e-03
esophageal adenocarcinoma 1.500 3.2e-02
psoriasis 1.600 1.3e-04
osteosarcoma -2.132 9.5e-07
glioblastoma 1.200 1.5e-02
group 4 medulloblastoma 1.300 2.2e-03
primitive neuroectodermal tumor 1.100 1.3e-03
juvenile dermatomyositis 1.014 7.0e-09
pancreatic ductal adenocarcinoma liver m... 1.406 4.9e-03
intraductal papillary-mucinous adenoma (... 2.000 6.9e-04
intraductal papillary-mucinous carcinoma... 1.200 4.3e-03
intraductal papillary-mucinous neoplasm ... 1.600 1.0e-02
primary Sjogren syndrome 1.200 4.0e-04
Pick disease 1.400 1.1e-04
ulcerative colitis 1.100 6.0e-06
ovarian cancer 2.500 5.5e-05
dermatomyositis 1.300 1.8e-04

Gene RIF (45)

PMID Text
26503472 these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of mismatch repair-deficient cancer phenotype.
25358258 The ability of MBD4 to directly interact with and recruit USP7 to chromocenters implicates it as an additional factor that can potentially regulate Dnmt1 activity during cell proliferation.
25162968 MBD4 rs3138373 A>G and rs2005618 T>C single nucleotide polymorphisms were not associated with esophageal squamous cell carcinoma (ESCC) risk. rs3138355 GG genotype was associated with a decreased risk of ESCC among male patients and the elderly.
24434851 Interaction between DNMT1 and MBD4 is involved in controlling gene expression and responding to oxidative stress.
24004570 ERCC4 rs1800124 and MBD4 rs10342 non-synonymous single nucleotide polymorphism variants were associated with DNA repair capacity.
23316048 the crystal structure of MBD4 bound to 5-hydroxymethylcytosine further demonstrates that MBDMBD4 is able to recognize a wide range of 5-methylcytosine modifications
23027038 MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.
22848106 Crystal structures of human MBD4(catalytic domain) reveal that MBD4 uses a base flipping mechanism to specifically recognize thymine and 5-hydroxymethyluracil.
22560993 specificity of MBD4 for acting at CpG sites depends largely on its methyl-CpG-binding domain, which binds preferably to G.T mispairs in a methylated CpG site
21971312 MBD 4--a potential substrate for protein kinase X
21820404 the crystal structure of C-terminal glycosylase domain of human MBD4 was determined.
21377502 decreased expression in patients with primary immune thrombocytopenia
20731661 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20676650 MBD4-8666 and MBD4-9229, but not MBD4-1057, gene polymorphisms are related to rheumatoid arthritis in Chinese patients in Taiwan.
20644561 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20574454 Observational study of gene-disease association. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20226869 Observational study of gene-disease association. (HuGE Navigator)
20100009 Data suggest that methyl-CpG binding domain 4 polymorphism may not be a stratification marker to predict the susceptibility to immune thrombocytopenic purpura, at least in the Chinese population.
20100009 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19469655 The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene is associated with gastrointestinal cancer
19469655 Observational study of gene-disease association. (HuGE Navigator)
19403629 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19395862 The methyl binding domain of MBD4/MED1 was found to specifically inhibit the activity of MBD4/MED1 as well as the glycosylase domain, when the G:IU mispairs were located in a methylated CpG context.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18519584 MBD4 efficiently processed T/G mismatches within the nucleosome.
18495292 Single nucleotide polymorphisms in MBD4 are associated with lung cancer.
18495292 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18162445 Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cells.
17360956 MBD2 and MBD4 transcript overexpression and inverse correlations with DNA methylation indices indicate that both enzymes may really have a direct and active role on the genome-wide DNA hypomethylation observed in CD4+ T cells from SLE patients.
17285135 The overexpression of MBD4(tru) in Big Blue (lacI)-transfected, MSI human colorectal carcinoma cells doubled mutation frequency, indicating that the modest dominant negative effect on DNA repair can occur in living cells in short-term experiments.
17049487 These results suggest that RFP is a mediator connecting several MBD proteins and allowing the formation of a more potent transcriptional repressor complex.
16831587 Mutations in MBD4 are unlikely to be implicated in HPS.
16803845 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16803845 MBD4 Glu346Lys polymorphism could be used as a marker for genetic susceptibility to adenocarcinoma of the lung.
15899845 MBD4 acts as a repressor protein binding to hypermethylated promoters of the p16(INK4a) and hMLH1 genes.
15205355 Observational study of gene-disease association. (HuGE Navigator)
12926109 MBD4 mutations were found in 15% MSI but not in MSS colrectal tumors.
12430186 Frameshift mutations were found in 29% of gastric and 20% of colon MSI-H cancers, but not in any low-frequency microsatellite instability/microsatellite stable cancers.
12220634 results indicate the formation of a complex with the estradiol receptor
11836615 MBD4 expression is associated with grade of malignancy in gliomas

AA Sequence

MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIA      1 - 70
SAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPED     71 - 140
FDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTST    141 - 210
HLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQ    211 - 280
KSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYED    281 - 350
TFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSS    351 - 420
KYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEV    421 - 490
ARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPED    491 - 560
HKLNKYHDWLWENHEKLSLS                                                      561 - 580
//

Text Mined References (64)

PMID Year Title
26503472 2015 Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis.
25358258 2015 MBD4 interacts with and recruits USP7 to heterochromatic foci.
25162968 2015 Methyl-CpG binding domain 4 tagging polymorphisms and esophageal cancer risk in a Chinese population.
24434851 2014 MBD4 cooperates with DNMT1 to mediate methyl-DNA repression and protects mammalian cells from oxidative stress.
24004570 Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes.
23316048 2013 Structural basis of the versatile DNA recognition ability of the methyl-CpG binding domain of methyl-CpG binding domain protein 4.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23027038 2012 The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.
22848106 2012 Biochemical and structural characterization of the glycosylase domain of MBD4 bound to thymine and 5-hydroxymethyuracil-containing DNA.
22560993 2012 Crystal structure of human methyl-binding domain IV glycosylase bound to abasic DNA.
21971312 2011 MBD 4--a potential substrate for protein kinase X.
21820404 2011 Crystal structure of the mismatch-specific thymine glycosylase domain of human methyl-CpG-binding protein MBD4.
21377502 2011 Decreased expression of MBD2 and MBD4 gene and genomic-wide hypomethylation in patients with primary immune thrombocytopenia.
20731661 2010 Comprehensive analysis of DNA repair gene polymorphisms and survival in patients with early stage non-small-cell lung cancer.
20676650 2012 MBD4 gene is associated with rheumatoid arthritis in Chinese patients in Taiwan.
20644561 2011 A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer.
20574454 2010 Polymorphisms in the base excision repair pathway and graft-versus-host disease.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20226869 2010 Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations.
20100009 2010 Single nucleotide polymorphism in the methyl-CpG binding domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese population.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19469655 2009 The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene in gastrointestinal cancer.
19403629 2009 Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population.
19395862 2009 Modulation of the activity of methyl binding domain protein 4 (MBD4/MED1) while processing iododeoxyuridine generated DNA mispairs.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18519584 2008 MBD4-mediated glycosylase activity on a chromatin template is enhanced by acetylation.
18495292 2008 Tagging single nucleotide polymorphisms in MBD4 are associated with risk of lung cancer in a Chinese population.
18162445 2008 Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cells.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17360956 2007 Transcript overexpression of the MBD2 and MBD4 genes in CD4+ T cells from systemic lupus erythematosus patients.
17285135 2007 A human cancer-associated truncation of MBD4 causes dominant negative impairment of DNA repair in colon cancer cells.
17143486 2007 The identification of a novel alternatively spliced form of the MBD4 DNA glycosylase.
17049487 2006 RET finger protein enhances MBD2- and MBD4-dependent transcriptional repression.
16831587 2006 Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.
16803845 2006 Glu346Lys polymorphism in the methyl-CpG binding domain 4 gene and the risk of primary lung cancer.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15899845 2005 The thymine DNA glycosylase MBD4 represses transcription and is associated with methylated p16(INK4a) and hMLH1 genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15205355 2004 Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14667819 2004 Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region.
14614141 2003 The base excision repair enzyme MED1 mediates DNA damage response to antitumor drugs and is associated with mismatch repair system integrity.
12926109 Microsatellite instability and MBD4 mutation in unselected colorectal cancer.
12766061 2003 Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis.
12702765 2003 Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12430186 2002 Frameshift mutations in the MBD4/MED1 gene in primary gastric cancer with high-frequency microsatellite instability.
12220634 2002 Estradiol receptor potentiates, in vitro, the activity of 5-methylcytosine DNA glycosylase.
11937636 2002 A quantitative model of human DNA base excision repair. I. Mechanistic insights.
11836615 Expression of the genes of methyl-binding domain proteins in human gliomas.
11056019 2000 Investigation of the substrate spectrum of the human mismatch-specific DNA N-glycosylase MED1 (MBD4): fundamental role of the catalytic domain.
10930409 2000 Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase.
10583946 1999 Quality control by DNA repair.
10545939 1999 The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.
10499592 1999 The thymine glycosylase MBD4 can bind to the product of deamination at methylated CpG sites.
10441743 1999 Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes.
10097147 1999 MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.
9823339 1998 A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.
9774669 1998 Identification and characterization of a family of mammalian methyl-CpG binding proteins.