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MBD3L2 Gene

protein-coding   GIFtS: 40
GCID: GC19P007049

Methyl-CpG Binding Domain Protein 3-Like 2

  See MBD3L2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methyl-CpG Binding Domain Protein 3-Like 21 2
MBD3-Like Protein 22 3
Methyl-CpG-Binding Domain Protein 3-Like 22

External Ids:    HGNC: 185321   Entrez Gene: 1259972   Ensembl: ENSG000002305227   OMIM: 6079645   UniProtKB: Q8NHZ73   

Export aliases for MBD3L2 gene to outside databases

Previous GC identifers: GC19P007109 GC19P006989 GC19P007000


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MBD3L2 Gene:
This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding
domain. The protein has been found in germ cell tumors and some somatic tissues. (provided by RefSeq, Jul 2008)

GeneCards Summary for MBD3L2 Gene:
MBD3L2 (methyl-CpG binding domain protein 3-like 2) is a protein-coding gene. Diseases associated with MBD3L2 include germ cell tumors. An important paralog of this gene is MBD3L4.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBD3L2 gene promoter:
         STAT1   STAT1beta   STAT3   STAT1alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MBD3L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBD3L2


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3

MBD3L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD3L2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007049:  view genomic region     (about GC identifiers)

Start:
7,049,332 bp from pter      End:
7,051,746 bp from pter
Size:
2,415 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MB3L2_HUMAN, Q8NHZ7 (See protein sequence)
Recommended Name: Methyl-CpG-binding domain protein 3-like 2  
Size: 208 amino acids; 22994 Da
Miscellaneous: The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact
number of functional copies is unclear, and some of them may represent pseudogenes
Sequence caution: Sequence=AAM28154.2; Type=Frameshift; Positions=204;

Explore the universe of human proteins at neXtProt for MBD3L2: NX_Q8NHZ7

Explore proteomics data for MBD3L2 at MOPED


See MBD3L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_653215.2  
ENSEMBL proteins: 
 ENSP00000370800  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR025884 MeCpG-bd_2/3_C_dom

Graphical View of Domain Structure for InterPro Entry Q8NHZ7

ProtoNet protein and cluster: Q8NHZ7

UniProtKB/Swiss-Prot: MB3L2_HUMAN, Q8NHZ7
Similarity: Belongs to the MBD3L family


Find genes that share domains with MBD3L2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mbd3l2):
 normal 

Find genes that share phenotypes with MBD3L2           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Mbd3l2tm1Gpp for MBD3L2

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBD3L2
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
mitochondrion1
peroxisome1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for MBD3L2 About    
See pathways by source

SuperPathContained pathways About
1Signaling events mediated by HDAC Class I
Signaling events mediated by HDAC Class I


1 BioSystems Pathway for MBD3L2
    Signaling events mediated by HDAC Class I


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Interactions:

    GeneGlobe Interaction Network for MBD3L2

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for MBD3L2 (Q8NHZ73 ENSP000003708004) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
InteractantInteraction Details
GeneCardExternal ID(s)
MBD2Q9UBB53, ENSP000002564294I2D: score=2 STRING: ENSP00000256429
MBD3O959833, ENSP000001568254I2D: score=2 STRING: ENSP00000156825
MTA1Q133303, ENSP000003336334I2D: score=2 STRING: ENSP00000333633
RBBP4Q090283, ENSP000003625924I2D: score=2 STRING: ENSP00000362592
MTA2O947763, ENSP000002788234I2D: score=1 STRING: ENSP00000278823
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MBD3L2 (MB3L2)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for MBD3L2 gene: 
NM_144614.3  

Unigene Cluster for MBD3L2:

Methyl-CpG binding domain protein 3-like 2
Hs.567667
Unigene Representative Sequence: AF503919
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000381393(uc010dvf.1)
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat MBD3L2

Additional mRNA sequence: AF503919.2 

1 DOTS entry:

DT.100016653 

4 AceView cDNA sequences:

BX113115 AI652740 AF503919 BE502398 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MBD3L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MBD3L2 Expression
About this image

MBD3L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MBD3L2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.567667

UniProtKB/Swiss-Prot: MB3L2_HUMAN, Q8NHZ7
Tissue specificity: Detected at low levels in several somatic tissues. Highly expressed in the ovarian
teratocarcinoma cell line PA-1

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBD3L2

(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)
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This gene was present in the common ancestor of animals.

Orthologs for MBD3L2 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mbd3l21 , 5 methyl-CpG binding domain protein 3-like 21, 5 56.75(n)1
39.02(a)1
  9 (7.05 cM)5
2349881  NM_144934.31  NP_659183.31 
 184434565 
chicken
(Gallus gallus)
Aves MBD36
Gallus gallus methyl-CpG binding domain protein 3 ...
25(a)
1 → many
28(2378593-2393466)
zebrafish
(Danio rerio)
Actinopterygii mbd3b6
mbd3a6
methyl-CpG binding domain protein 3a
24(a)
22(a)
many ↔ many
many ↔ many
22(20610857-20627983) ENSDARG00000042029
2(57737888-57762598) ENSDARG00000061774
fruit fly
(Drosophila melanogaster)
Insecta MBD-like6
MBD-like
12(a)
1 → many
3R(5385487-5387255)


ENSEMBL Gene Tree for MBD3L2 (if available)
TreeFam Gene Tree for MBD3L2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MBD3L2 gene
LOC729458  MBD3L31 2  MBD3L51 2  MBD3L41 2  MBD22  MBD3L12  MBD32  
6 SIMAP similar genes for MBD3L2 using alignment to 1 protein entry:     MB3L2_HUMAN:
MBD3L3    MBD3L4    MBD3L5    MBD3L1    NY-CO-41    MBD3

Find genes that share paralogs with MBD3L2           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MBD3L2 (see all 29)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2012452101,2
C--7047586(+) ACGTCA/GTTGCA 1 -- us2k10--------
rs2002769991,2
--7049344(+) CTGTCC/TGTGCC 1 -- us2k10--------
rs1995520441,2
--7049805(+) TGGTT-/AAAATA 1 -- int10--------
rs2000812251,2
C,F--7051376(+) CGGCCG/AGTGAA 2 /S /G mis11Minor allele frequency- A:0.32EU 100
rs762063241,2
C,F--7051588(+) TTGCAG/AGCAGA 2 /Q syn11Minor allele frequency- A:0.14EU 667
rs1855754321,2
--7051607(+) CCAGGC/TGGGCA 2 R W mis10--------
rs16107581,2
C,F--7051608(-) CTGCCC/TGCCTG 2 Q R mis12Minor allele frequency- T:0.00NA 4
rs16904181,2
A--7051628(+) CAGGTG/AGATGA 2 /R /G mis12Minor allele frequency- A:0.00NA 4
rs2005815451,2
C,F--7051637(+) GAAGCT/GCAGTC 1 -- ut311Minor allele frequency- G:0.30EU 678
rs16517501,2
C,F--7051643(-) GCCCAA/GGACTG 1 -- ut312Minor allele frequency- G:0.34NA EU 503

HapMap Linkage Disequilibrium report for MBD3L2 (7049332 - 7051746 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for MBD3L2 (see all 11):    About this table    
Variant IDTypeSubtypePubMed ID
nsv821572CNV Duplication20802225
esv2751810CNV Loss17911159
nsv910955CNV Gain21882294
dgv393n27CNV Gain19166990
dgv3708n71CNV Gain21882294
esv2751809CNV Gain17911159
dgv136e55CNV Gain17911159
nsv482211CNV Gain20164927
nsv517794CNV Gain+Loss19592680
esv33729CNV Gain+Loss17666407

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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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OMIM gene information: 607964    OMIM disorders: --

1 disease for MBD3L2:    
About MalaCards
germ cell tumors


Find genes that share disorders with MBD3L2           About GenesLikeMe


Export disorders for MBD3L2 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 MBD3L2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with MBD3L2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG- binding proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific transcriptional repressor. (PubMed id 12504854)1, 2, 9 Jiang C.-L.... Pfeifer G.P. (Genomics 2002)
  2. MBD3L2 interacts with MBD3 and components of the NuRD complex and can oppose MBD2-MeCP1-mediated methylation silencing. (PubMed id 15701600)1, 9 Jin S.-G.... Pfeifer G.P. (J. Biol. Chem. 2005)
  3. Unique features of the anti-parallel, heterodimeric coiled-coil interaction between methyl-cytosine binding domain 2 (MBD2) homologues and GATA zinc finger domain containing 2A (GATAD2A/p66I+). (PubMed id 23239876)1 Walavalkar N.M....Williams D.C. (J. Biol. Chem. 2013)
  4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 125997 HGNC: 18532 AceView: MBD3L2.1 Ensembl:ENSG00000230522 euGenes: HUgn125997
ECgene: MBD3L2 H-InvDB: MBD3L2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MBD3L2 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MBD3L2 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MBD3L2 gene:
Search GeneIP for patents involving MBD3L2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search Tocris compounds for MBD3L2 (MB3L2)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBD3L2
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 Search Addgene for plasmids for MBD3L2
  Search eBioscience for proteins for MBD3L2
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  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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