MBD4 Gene
protein-coding GIFtS: 64
GCID: GC03M129149
|
|
methyl-CpG binding domain protein 4
| |
Aliases
for MBD4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Methyl-CpG Binding Domain Protein 41 2 | | G/5-Fluorouracil Mismatch Glycosylase With Biphasic Kinetics2 | | MED11 2 3 5 | | G/T Mismatch Glycosylase2 | | Methyl-CpG-Binding Endonuclease 12 3 | | G/U Mismatch Glycosylase2 | | Methyl-CpG-Binding Protein MBD42 3 | | Methyl-CpG-Binding Domain Protein 42 | | Mismatch-Specific DNA N-Glycosylase2 3 | | Putative Methyl-CpG Binding Protein2 | | 3,N(4)-Ethenocytosine Glycosylase2 | | EC 3.2.2.-3 |
Export aliases for MBD4 gene to outside databasesPrevious GC identifers: GC03M125975 GC03M129786 GC03M130431 GC03M130470 GC03M130632 GC03M126533 |
Summaries
for MBD4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MBD4:
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpGbinding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can alsorepress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus thatfunctions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylasedomain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have beenobserved for this gene. (provided by RefSeq, Jan 2013)
UniProtKB/Swiss-Prot: MBD4_HUMAN, O95243Function: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specificfor G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:Umismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein
Gene Wiki entry for MBD4
|
Genomic Views
for MBD4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MBD4 gene promoter:
Pbx1a AML1a AP-4 Nkx2-5 C/EBPalpha GATA-1 Pax-3 deltaCREB RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for MBD4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21.3MBD4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M129149: view genomic region
(about GC identifiers)
Start:
|
129,149,787 bp from pter |
End:
|
129,158,878 bp from pter |
Size:
|
9,092 bases |
Orientation:
|
minus strand |
|
Proteins
for MBD4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MBD4_HUMAN, O95243 (See
protein sequence)Recommended Name: Methyl-CpG-binding domain protein 4 Size: 580 amino acids; 66051 Da
Subunit: Interacts with MLH1
Subcellular location: Nucleus
6/8 PDB 3D structures from  and Proteopedia  for MBD4 (see all 8):3IHO (3D)
4DK9 (3D)
4E9E (3D)
4E9F (3D)
4E9G (3D)
4E9H (3D)
Secondary accessions: D3DNC3 D3DNC4 Q7Z4T3 Q96F09Alternative splicing: 3 isoforms: O95243-1 O95243-2 O95243-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MBD4: NX_O95243
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O95243
MBD4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001263199.1 NP_001263200.1 NP_001263201.1 NP_001263202.1 NP_003916.1
ENSEMBL proteins: ENSP00000394080 ENSP00000249910 ENSP00000424873 ENSP00000422690 ENSP00000422327 ENSP00000376959 Reactome Protein details: O95243
Human Recombinant Protein Products for MBD4:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
MBD4 for ontologies About GeneDecksing
MBD4 Antibody Products:
Assay Products for MBD4: |
Protein
Domains /
Families
for MBD4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MBD4 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O95243ProtoNet protein and cluster: O95243 1 Blocks protein family: IPB001739 Methyl-CpG binding
UniProtKB/Swiss-Prot: MBD4_HUMAN, O95243Similarity: Contains 1 MBD (methyl-CpG-binding) domain |
Function
for MBD4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MBD4_HUMAN, O95243Function: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specificfor G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:Umismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein Genatlas biochemistry entry for MBD4:methyl-CpG binding protein 4,widely expressed,mutated in carcinoma with microsatellite instability (colorectalcarcinoma),encoding an MLH1 interactor
Enzyme Number (IUBMB): EC 3.2.2.-1
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
MBD4 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for MBD4:
12 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Mbd4):
MBD4 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for MBD4: Mbd4tm1Bird Mbd4/Ift122Mbd4/tm1Abc Mbd4tm2Abc Mbd4tm1Wed
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBD4 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBD4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MBD4 (NM_003925) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MBD4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD4 |
|
Pathways & Interactions
for MBD4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Base-Excision Repair, AP Site Formation | | | 2 | Resolution of Abasic Sites (AP sites) | | | 3 | Nucleotide Excision Repair | | | 4 | Chks in Checkpoint Regulation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MBD4
5/12 
Reactome Pathways for MBD4 (see all 12)
1 
Kegg Pathway (Kegg details for MBD4):
MBD4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBD4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/15 Interacting proteins for MBD4 (O952431, 2, 3 ENSP000002499104) via UniProtKB, MINT, STRING, and/or I2D (see all 15)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| CSNK2B | P678702, 3, ENSP000003650254 | MINT-62713 MINT-62789 MINT-62615 I2D:
score=5 STRING: ENSP00000365025 | | CDCA2 | Q69YH52, 3, ENSP000003282284 | MINT-8262891 I2D:
score=2 STRING: ENSP00000328228 | | FADD | Q131581, 2, 3, ENSP000003018384 | EBI-348011,EBI-494804 MINT-45869 MINT-45870 I2D:
score=5 STRING: ENSP00000301838 | | MLH1 | P406923, ENSP000002317904 | I2D:
score=4 STRING: ENSP00000231790 | | DNMT3B | Q9UBC33, ENSP000003285474 | I2D:
score=1 STRING: ENSP00000328547 |
About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006281 | DNA repair |
TAS | -- | | GO:0006284 | base-excision repair |
TAS | -- | | GO:0006285 | base-excision repair, AP site formation |
TAS | -- | | GO:0006974 | response to DNA damage stimulus |
-- | -- | | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
IEA | -- |
MBD4 for ontologies About GeneDecksing
|
Drugs & Compounds
for MBD4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MBD4 for compounds About GeneDecksing
 Browse Tocris compounds for MBD4
10/13 Novoseek chemical compound relationships for MBD4 gene (see all 13) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 5-methylcytosine |
77.9 |
14 |
11058112 (3), 11056019 (3), 10930409 (2), 11267993 (2) (see all 6) |
| thymine |
68.5 |
19 |
12954776 (2), 10930409 (2), 11267993 (2), 10499592 (1) (see all 11) |
| cytosine |
68.5 |
1 |
12570743 (1) |
| 3,n(4)-ethenocytosine |
66.3 |
2 |
11056019 (1), 11267993 (1) |
| 5-aza-2'deoxycytidine |
55.6 |
2 |
11309512 (1) |
| mononucleotide |
50 |
1 |
19787250 (1) |
| mcpg |
47.6 |
1 |
15899845 (1) |
| guanine |
28.2 |
5 |
12954776 (1), 10930409 (1), 11056019 (1), 11267993 (1) |
| adenine |
23.2 |
1 |
12954776 (1) |
| 5fluorouracil |
7.32 |
4 |
10930409 (1), 11056019 (1), 11267993 (1) |
Search CenterWatch for drugs/clinical trials and news about MBD4
|
Transcripts
for MBD4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MBD4 gene (5 alternative transcripts): NM_001276270.1 NM_001276271.1 NM_001276272.1 NM_001276273.1 NM_003925.2 Unigene Cluster for MBD4: Methyl-CpG binding domain protein 4 Hs.35947 [show with all ESTs]Unigene Representative Sequence: AF07225010 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000429544(uc003emj.1) ENST00000249910(uc003emh.1 uc003emi.1 uc003emk.1)
ENST00000503197 ENST00000509828 ENST00000507208(uc011bkw.1) ENST00000511009
ENST00000515266 ENST00000509587 ENST00000505883 ENST00000393278
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBD4 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBD4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MBD4 (NM_003925) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MBD4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD4 |
Additional cDNA sequence: AF072250.1 AF114784.1 AF532602.1 AK303013.1 AK312878.1 AM180876.1 BC011752.2 BC034463.1 CR450305.1 U56254.1 U56428.1 16 DOTS entries: DT.101975207 DT.456074 DT.86853317 DT.100779262 DT.100779263 DT.95307194 DT.120893152 DT.120893261 DT.120893250 DT.40115829 DT.100779259 DT.100779261 DT.120893204 DT.120893244 DT.120893259 DT.91663644 24/233 AceView cDNA sequences (see all 233): CD105484 CK819454 AA287638 AI985866 BM709307 AA317013 BP353391 BC034463 AF114784 AA167415 BU153530 AA872181 AW193935 BE550291 CR619777 AI625199 AI804701 AA286795 AA574161 BP340997 BM857488 AW193436 CK819453 BF509053
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MBD4 (see all 10) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | · | 8c | · | 8d |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | - | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MBD4
|
Expression
for MBD4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MBD4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTGAGATT
About this image
See MBD4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MBD4
SOURCE GeneReport for Unigene cluster: Hs.35947
SABiosciences Expression via Pathway-Focused PCR Arrays including MBD4:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MBD4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MBD4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBD4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBD4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD4 |
Orthologs
for MBD4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MBD4 gene from 7/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mbd41 , 5 |
methyl-CpG binding domain protein 41, 5 |
78.16(n)1
68.77(a)1 |
|
6 (53.72 cM)5
171931 NM_010774.21 NP_034904.21
1158406975 |
chicken
(Gallus gallus) |
Aves |
MBD46 |
methyl-CpG binding domain protein 4 |
79(a) |
1 ↔ 1 |
12(20121902-20127100) |
lizard
(Anolis carolinensis) |
Reptilia |
MBD46 |
-- |
42(a) |
1 ↔ 1 |
GL343273.1(750902-760504) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.67902 |
Transcribed sequence with moderate similarity to protein more |
74.13(n) |
|
AL777182.2 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.167652 |
Transcribed sequence with weak similarity to protein more |
72.17(n) |
|
AL921290.1 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT3G079306 |
methyl-CpG-binding domain protein 4 |
18(a) |
1 ↔ 1 |
3(2526618-2528633) |
rice
(Oryza sativa) |
Liliopsida |
-- |
hhH-GPD superfamily base excision DNA repair prote... |
17(a) |
1 ↔ 1 |
9(243491-247908) |
ENSEMBL Gene Tree for MBD4 (if available)
TreeFam Gene Tree for MBD4 (if available) |
Paralogs
for MBD4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MBD4 gene
- MECP22
1 SIMAP similar gene for MBD4 using alignment to 4 protein entries: MBD4_HUMAN (see all proteins):MECP2
MBD4 for paralogs About GeneDecksing
|
Genomic Variants
for MBD4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MBD4 (129149787 - 129158878 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MBD4: --
Human Gene Mutation Database (HGMD): MBD4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MBD4 |
|
Disorders
/ Diseases
for MBD4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MBD4 for disorders About GeneDecksing
OMIM gene information: 603574
OMIM disorders: --
20/34  diseases for MBD4 (see all 34): About MalaCardsgraft versus host disease classic rett syndrome rett syndrome lupus erythematosus
cutaneous lupus erythematosus angelman syndrome esophageal squamous cell carcinoma systemic lupus erythematosus
squamous cell carcinoma chronic lymphocytic leukemia lymphocytic leukemia colorectal cancer
hepatocellular carcinoma keratitis colon cancer multiple sclerosis
dermatomyositis carcinoma lung cancer thrombocytopenia
10/21 Novoseek disease relationships for MBD4 gene (see all 21) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| rett syndrome |
89.6 |
21 |
15377381 (2), 12727440 (1), 15857580 (1), 18287934 (1) (see all 19) |
| microsatellite instability |
69.3 |
12 |
12926109 (2), 19469655 (2), 10097147 (1), 10637515 (1) (see all 7) |
| mental retardation |
47.9 |
3 |
15857580 (1), 19057379 (1), 17383248 (1) |
| angelman syndrome |
44.7 |
2 |
11283202 (1), 15866439 (1) |
| somatic mutations |
39 |
1 |
18206535 (1) |
| cancer |
35 |
17 |
15959563 (2), 11267993 (2), 14633992 (1), 12154402 (1) (see all 12) |
| colorectal cancer |
30.2 |
16 |
19127118 (4), 19469655 (3), 12926109 (2), 18097604 (1) |
| encephalopathy |
29.7 |
2 |
16473305 (1), 12180070 (1) |
| colorectal carcinoma |
25.9 |
3 |
12824891 (1), 11104560 (1), 12702765 (1) |
| neurological disorders |
24.8 |
2 |
17965612 (1), 19427855 (1) |
Genetic Association Database (GAD): MBD4
Human Genome Epidemiology (HuGE) Navigator: MBD4 (19 documents)
Export disorders for MBD4 gene to outside databases
|
Publications
for MBD4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for MBD4 gene, integrated from 9 sources (see all 212):
(articles sorted by number of sources associating them with MBD4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of a family of mammalian methyl- CpG binding proteins. (PubMed id 9774669)1, 2, 3, 9 Hendrich B. and Bird A. (1998)
- MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. (PubMed id 10097147)1, 2, 3, 9 Bellacosa A.... Neri G. (1999)
- Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase. (PubMed id 10930409)1, 2, 9 Petronzelli F.... Bellacosa A. (2000)
- Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PubMed id 10441743)1, 2, 9 Hendrich B.... Bird A. (1999)
- Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis. (PubMed id 12702765)1, 2, 9 Screaton R.A.... Frisch S.M. (2003)
- Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. (PubMed id 15205355)1, 4 Hao B....He F. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Investigation of the substrate spectrum of the human mismatch-specific DNA N-glycosylase MED1 (MBD4): fundamental role of the catalytic domain. (PubMed id 11056019)1, 9 Petronzelli F....Bellacosa A. (2000)
- The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4gene in gastrointestinal cancer. (PubMed id 19469655)1, 9 Song J.H....Park W.S. (2009)
- The identification of a novel alternatively spliced form of the MBD4 DNA glycosylase. (PubMed id 17143486)1, 9 Owen R.M.... Nicholl I.D. (2007)
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External Searches for MBD4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing MBD4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing MBD4 gene
(According to HUGE)
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| -- |
Specialized Databases showing MBD4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
|
About This Section
| Patent Information for MBD4 gene:
Search GeneIP for patents involving MBD4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MBD4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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|
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