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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MBD3L2 Gene

protein-coding   GIFtS: 40
GCID: GC19P007049

methyl-CpG binding domain protein 3-like 2

 Explore 2 diseases affiliated with
MBD3L2 via our new
 Human Malady Compendium 
Biological research products
for MBD3L2
    

(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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MBD3L2:
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)




(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 MBD3L2 gene promoter:
         STAT1   STAT1beta   STAT3   STAT1alpha   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
7,049,350 bp from pter      End:
7,051,746 bp from pter
Size:
2,397 bases      Orientation:
plus 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: 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

MBD3L2 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_653215.2  
ENSEMBL proteins: 
 ENSP00000370800  

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

MBD3L2 for domains           About GeneDecksing

1 InterPro domain/family:
 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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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Animal Models:
     Mouse knock-out Mbd3l2tm1Gpp for MBD3L2
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mbd3l2):
 normal 

MBD3L2 for phenotypes           About GeneDecksing


(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-pathwaycontained gene-specific pathways
1Signaling events mediated by HDAC Class I
Signaling events mediated by HDAC Class I1.00


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


Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBD3L2

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/11 Interacting proteins for MBD3L2 (Q8NHZ73 ENSP000003708004) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
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
About this table

(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 MBD3L2
Search CenterWatch for drugs/clinical trials and news about MBD3L2 / MB3L2 

(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, 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 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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Inhib. RNA
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Clone
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Additional cDNA 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™, 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

MBD3L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See MBD3L2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MBD3L2

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
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(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 MBD3L2 gene from 3/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves Q5ZLX8_CHICK6
Uncharacterized protein
19(a)
1 → many
28(1954899-1970475)
zebrafish
(Danio rerio)
Actinopterygii mbd3b6
mbd3a6
methyl-CpG binding domain protein 3a
22(a)
20(a)
many ↔ many
many ↔ many
22(20610857-20627983)
2(57737888-57762598)
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)
About This Section
Paralogs for MBD3L2 gene
LOC7294581 2  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

MBD3L2 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

10/23 NCBI SNPs in MBD3L2 are shown (see all 23    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
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,--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
rs1390477341,2
--7051647(+) CTTGGA/GCTTTC 1 -- ut310--------

HapMap Linkage Disequilibrium report for MBD3L2 (7049350 - 7051746 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for MBD3L2
     11 CNVs: 89048 8862 9301 78050 67451 34508 8863 7224 34616 50241 53678

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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.)
About This Section

MBD3L2 for disorders           About GeneDecksing

OMIM gene information: 607964    OMIM disorders: --

2 diseases for MBD3L2:    About MalaCards
germ cell tumor    teratocarcinoma


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)
About This Section

PubMed articles for MBD3L2 gene integrated from 9 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. (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. (2005)
  3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
  4. 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. (2004)
  5. 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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 125997 HGNC: 18532 AceView: MBD3L2.1 Ensembl:ENSG00000230522 euGenes: HUgn125997
ECgene: MBD3L2 H-InvDB: MBD3L2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Advanced Cell Diagnostics
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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