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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MBD3 Gene

protein-coding GIFtS: 63
GCID: GC19M001576

methyl-CpG binding domain protein 3

Explore 10 diseases affiliated with
MBD3 via

MalaCards

our new
Human Malady Compendium

(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 3¹ ²
Methyl-CpG-Binding Domain Protein 3²
Methyl-CpG-Binding Protein MBD3³

External Ids:	HGNC: 6918¹	Entrez Gene: 53615²	Ensembl: ENSG00000071655⁷	OMIM: 603573⁵	UniProtKB: O95983³

Export aliases for MBD3 gene to outside databases

Previous GC identifers: GC19M001639 GC19M001516 GC19M001527 GC19M001350

(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 MBD3:

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development.

Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each

of a methyl-CpG binding domain (MBD). However, unlike the other family members, MBD3 is not capable of binding to

methylated DNA. The predicted MBD3 protein shares 71% and 94% identity with MBD2 (isoform 1) and mouse Mbd3. MBD3 is a

subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. MBD3

mediates the association of metastasis-associated protein 2 (MTA2) with the core histone deacetylase complex.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MBD3_HUMAN, O95983

Function: Does not bind DNA by itself. Recruits histone deacetylases and DNA methyltransferases. Acts as

transcriptional repressor and plays a role in gene silencing

Gene Wiki entry for MBD3

(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_000019.9 NC_018930.1 NT_011255.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MBD3 gene promoter:
Elk-1 RP58 XBP-1 CBF-C Egr-4 CBF-B CBF-A c-Myb STAT3 CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MBD3 promoter sequence

Search SABiosciences Chromatin IP Primers for MBD3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13

MBD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD3 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M001576: view genomic region (about GC identifiers)

Start:	1,576,677 bp from pter	End:	1,592,882 bp from pter
Size:	16,206 bases	Orientation:	minus strand

(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: MBD3_HUMAN, O95983 (See protein sequence)

Recommended Name: Methyl-CpG-binding domain protein 3

Size: 291 amino acids; 32844 Da

Subunit: Heterodimer with MBD2. Part of the NuRD and the MeCP1 complex. Binds HDAC1, MTA2, DNMT1, p66-alpha and

p66-beta

Subcellular location: Nucleus. Note=Nuclear, in discrete foci

Sequence caution: Sequence=AAH32443.1; Type=Erroneous initiation;

Secondary accessions: A8K4B7 D6W5Z2 Q6PIL9 Q6PJZ9 Q86XF4

Alternative splicing: 2 isoforms: O95983-1 O95983-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MBD3: NX_O95983

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95983

MBD3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003917.1

ENSEMBL proteins:

ENSP00000464718 ENSP00000466670 ENSP00000412302 ENSP00000156825

Human Recombinant Protein Products for MBD3:

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	Novus Biologicals MBD3 Proteins Novus Biologicals MBD3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MBD3

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000785	chromatin	--	--
GO:0000792	heterochromatin	IEA	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	IEA	--
GO:0016581	NuRD complex	NAS	17827154

MBD3 for ontologies About GeneDecksing

MBD3 Antibody Products:

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Assay Products for MBD3:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for MBD3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MBD3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MBD3 for domains About GeneDecksing

3 InterPro domains/families:

IPR025884 MeCpG-bd_2/3_C_dom

IPR001739 Methyl_CpG_DNA-bd

IPR016177 DNA-bd_integrase-typ

Graphical View of Domain Structure for InterPro Entry O95983

ProtoNet protein and cluster: O95983

1 Blocks protein family: IPB001739 Methyl-CpG binding

UniProtKB/Swiss-Prot: MBD3_HUMAN, O95983

Similarity: Contains 1 MBD (methyl-CpG-binding) domain

(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: MBD3_HUMAN, O95983

Function: Does not bind DNA by itself. Recruits histone deacetylases and DNA methyltransferases. Acts as

transcriptional repressor and plays a role in gene silencing

Genatlas biochemistry entry for MBD3:

methyl-CpG binding protein 3,expressed in somatic tissues,not binding methylated DNA in vitro or in vivo

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IEA	--
GO:0005515	protein binding	IPI	--

MBD3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MBD3:

Decreased TP53 protein express

6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Mbd3):

cellular	digestive/alimentary	homeostasis/metabolism	immune system	mortality/aging
tumorigenesis

MBD3 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MBD3

miRNA Products:		OriGene 3'-UTR Clone: MBD3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBD3
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		SwitchGear 3'UTR luciferase reporter plasmid: MBD3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MBD3 (see all 7) OriGene shRNA RFP: MBD3 OriGene siRNA: MBD3
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		Sirion Biotech Custom design and validation of potent shRNA sequences against MBD3

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for MBD3
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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 MBD3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBD3 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MBD3 (NM_003926)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBD3

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD3

(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

Transcription_Sin3 and NuRD in transcription regulation

Transcription_Sin3 and NuRD in transcription regulation

1.00

Transcription Sin3 and NuRD in transcription regulation

0.96

Signaling events mediated by HDAC Class I

Signaling events mediated by HDAC Class I

1.00

DNA Methylation and Transcriptional Repression

DNA Methylation and Transcriptional Repression

1.00

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for MBD3

Transcription Sin3 and NuRD in transcription regulation

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MBD3

DNA Methylation and Transcriptional Repression

1 Cell Signaling Technology (CST) Pathway for MBD3

Chromatin Regulation / Acetylation

1 GeneGo (Thomson Reuters) Pathway for MBD3

Transcription Sin3 and NuRD in transcription regulation

1 BioSystems Pathway for MBD3

Signaling events mediated by HDAC Class I

MBD3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MBD3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/622 Interacting proteins for MBD3 (O95983^{1, 2, 3} ENSP00000156825⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 622)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DDX5	P17844¹^,²^,³, ENSP00000225792⁴	EBI-1783068,EBI-351962 MINT-7945693 I2D: score=3 STRING: ENSP00000225792
MTA2	O94776²^,³, ENSP00000278823⁴	MINT-7945693 MINT-7943765 I2D: score=5 STRING: ENSP00000278823
HDAC1	Q13547²^,³, ENSP00000362649⁴	MINT-7945693 MINT-7943765 I2D: score=4 STRING: ENSP00000362649
HDAC2	Q92769²^,³, ENSP00000381331⁴	MINT-7945693 MINT-7943765 I2D: score=2 STRING: ENSP00000381331
AURKA	O14965²^,³, ENSP00000216911⁴	MINT-7945693 I2D: score=3 STRING: ENSP00000216911

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001701	in utero embryonic development	IEA	--
GO:0006346	methylation-dependent chromatin silencing	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0009888	tissue development	IEA	--

MBD3 for ontologies About GeneDecksing

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MBD3
Search CenterWatch for drugs/clinical trials and news about MBD3

(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 MBD3 gene:

NM_003926.5

Unigene Cluster for MBD3:

Methyl-CpG binding domain protein 3

Hs.178728 [show with all ESTs]

Unigene Representative Sequence: NM_003926

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000590550 ENST00000592012 ENST00000434436(uc002ltk.3) ENST00000585903

ENST00000585967 ENST00000589064 ENST00000592361 ENST00000592965 ENST00000156825(uc002ltj.3 uc002ltl.1)

miRNA Products:		OriGene 3'-UTR Clone: MBD3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBD3
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MBD3 (see all 7) OriGene shRNA RFP: MBD3 OriGene siRNA: MBD3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBD3
		Sirion Biotech Custom design and validation of potent shRNA sequences against MBD3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBD3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBD3 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MBD3 (NM_003926)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MBD3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBD3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBD3

Additional cDNA sequence:

AF072247.1 AK001474.1 AK021532.1 AK290882.1 BC000872.1 BC009372.1 BC009438.1 BC018784.1

BC032443.1 BC043619.1 X58233.1

19 DOTS entries:

DT.100034143 DT.65284492 DT.101978021 DT.100819819 DT.100819817 DT.100806804 DT.100819820 DT.121471043

DT.75138848 DT.100819822 DT.91823425 DT.100797144 DT.121470970 DT.86836938 DT.95210998 DT.100037882

DT.100708644 DT.92443555 DT.95211055

24/851 AceView cDNA sequences (see all 851):

BU838156 T07968 BM832740 AI216756 BM462518 BQ062550 BQ886878 AI359559

BU526798 AA588259 CR605036 BU930917 BQ217382 AW327482 AW268839 BF772409

C05577 AI468144 AI372848 BQ889361 BQ680714 AA279802 BM987873 CB152093

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MBD3 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	·	9c
SP1:					-		-		-		-		-				-						-
SP2:							-		-		-		-				-						-
SP3:																	-						-
SP4:																	-						-
SP5:									-		-		-				-						-

ECgene alternative splicing isoforms for MBD3

(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

MBD3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTGGATGTG

About this image

MBD3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Heart

Outflow Tract

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MBD3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MBD3

SOURCE GeneReport for Unigene cluster: Hs.178728

SABiosciences Expression via Pathway-Focused PCR Array including MBD3:

Epigenetic Chromatin Remodeling Factors in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBD3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD3

(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 animals.

Orthologs for MBD3 gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MBD3¹	methyl-CpG binding domain protein 3	80.97(n) 91.85(a)		770153 NM_001079751.1 NP_001073219.1
African clawed frog (Xenopus laevis)	Amphibia	MBD3²	methyl-CpG binding protein MBD3 long form	76.44(n)		AF170346.1
zebrafish (Danio rerio)	Actinopterygii	Dr.28407²	Danio rerio methyl-CpG binding protein 3a (mbd3a) mRNA, more	79.83(n)		AY398379.1
fruit fly (Drosophila melanogaster)	Insecta	MBD-like⁶	MBD-like	29(a)	1 → many	3R(5385487-5387255)

ENSEMBL Gene Tree for MBD3 (if available)
TreeFam Gene Tree for MBD3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MBD3 gene

MBD2² MBD3L4² LOC729458² MBD3L3² MBD3L1² MBD3L5² MBD3L2²

6 SIMAP similar genes for MBD3 using alignment to 2 protein entries: MBD3_HUMAN (see all proteins):

MBD2 DKFZp586O0821 NY-CO-41 MBD3L1 MBD3L2 MBD3L5

MBD3 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs117937248^1,2	C,F	--	1350384(+)	`TGCAGC/TGGCTG`	1	--	ds500¹		1	NA	120
rs112980884^1,2	C	--	1350745(+)	`GCACCG/CAACTC`	1	--	ds500¹		2	CSA WA	120
rs112742609^1,2	C	--	1350755(+)	`CCAGGC/G/TTCCAA`	1	--	ds500¹		1	CSA	1
rs117408326^1,2	C,F	--	1350913(+)	`NNNNTC/TGGCTG`	1	--	ut3¹		1	NA	120
rs12884^1,2	C,F,A	--	1351003(+)	`CCATGC/GGGGTC`	1	--	ut3¹ ese³		2	MN NA	304
rs2238588^1,2	C,H	--	1351007(+)	`GCGGGT/CCCTTG`	1	--	ut3¹ ese³		5	NS EA NA	538
rs16994495^1,2		--	1351011(-)	`CCTCCA/GAGGNC`	1	--	ut3¹ ese³		5	MN CSA WA NA	424
rs113233852^1,2		--	1351051(+)	`CCCGCA/GGTCAG`	1	--	ut3¹		2	CSA	2
rs11556542^1,2	C	--	1351316(-)	`GCGAGG/AGCAGG`	1	--	ut3¹		2	NA	4
rs116794683^1,2	C,F	--	1352319(+)	`CTCTTG/AGGAGG`	1	--	ut3¹		1	WA	118

HapMap Linkage Disequilibrium report for MBD3 (1576677 - 1592882 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MBD3
1 CNV: 7191
Human Gene Mutation Database (HGMD): MBD3

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MBD3 for disorders           About GeneDecksing

OMIM gene information: 603573    OMIM disorders: --

10 diseases for MBD3:    About MalaCards

silver-russell syndrome lupus erythematosus cutaneous lupus erythematosus systemic lupus erythematosus

keratitis dermatomyositis lung cancer prostate cancer

breast cancer prostatitis

Export disorders for MBD3 gene to outside databases

(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 MBD3 gene, integrated from 9 sources (see all 79):
(articles sorted by number of sources associating them with MBD3)

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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)
Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes. (PubMed id 10441743)^{1, 3, 9} Hendrich B.... Bird A. (1999)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (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)
Identification and functional characterization of the p66/p68 components of the MeCP1 complex. (PubMed id 11756549)^{1, 2} Feng Q....Zhang Y. (2002)
The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2. (PubMed id 12124384)^{1, 2} Saito M. and Ishikawa F. (2002)
Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3. (PubMed id 12183469)^{1, 2} Brackertz M.... Renkawitz R. (2002)
Stable histone deacetylase complexes distinguished by the presence of SANT domain proteins CoREST/kiaa0071 and Mta-L1. (PubMed id 11102443)^{1, 2} Humphrey G.W....Howard B.H. (2001)
MBD2-MBD3 complex binds to hemi-methylated DNA and forms a complex containing DNMT1 at the replication foci in late S phase. (PubMed id 10947852)^{1, 2} Tatematsu K.... Ishikawa F. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 53615	HGNC: 6918	AceView: MBD3andUQCR	Ensembl:ENSG00000071655	euGenes: HUgn53615
ECgene: MBD3	H-InvDB: MBD3

(According to HUGE)
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(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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Name	Description
PharmGKB entry for MBD3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MBD3	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MBD3 gene
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Patent Information for MBD3 gene:
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methyl-CpG binding domain protein 3

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methyl-CpG binding domain protein 3

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