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

MBD3L4 Gene

protein-coding   GIFtS: 30
GCID: GC19M007037

methyl-CpG binding domain protein 3-like 4

  Search for MBD3L4
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(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 41 2
MBD3-Like Protein 42 3
MBD3-Like 42
Putative Methyl-CpG-Binding Domain Protein 3-Like 42

External Ids:    HGNC: 372061   Entrez Gene: 6536562   Ensembl: ENSG000002057187   UniProtKB: A6NDZ83   

Export aliases for MBD3L4 gene to outside databases

Previous GC identifer: GC19M006990


(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 MBD3L4:
This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the
methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript
structure is inferred from other family members. (provided by RefSeq, Aug 2009)




(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 MBD3L4 gene promoter:
         STAT1   STAT1beta   STAT3   STAT1alpha   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD3L4


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: 19p13.2

MBD3L4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD3L4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M007037:  view genomic region     (about GC identifiers)

Start:
7,037,755 bp from pter      End:
7,040,190 bp from pter
Size:
2,436 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: MB3L4_HUMAN, A6NDZ8 (See protein sequence)
Recommended Name: Putative methyl-CpG-binding domain protein 3-like 4  
Size: 208 amino acids; 23121 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
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for MBD3L4: NX_A6NDZ8

MBD3L4 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001157891.1  
ENSEMBL proteins: 
 ENSP00000370801  

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

MBD3L4 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR025884 MeCpG-bd_2/3_C_dom

Graphical View of Domain Structure for InterPro Entry A6NDZ8

ProtoNet protein and cluster: A6NDZ8

UniProtKB/Swiss-Prot: MB3L4_HUMAN, A6NDZ8
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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(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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MBD3L4

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-dependent IEA--
GO:0006355regulation of transcription, DNA-dependent IEA--


MBD3L4 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
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Browse Tocris compounds for MBD3L4
Search CenterWatch for drugs/clinical trials and news about MBD3L4 / MB3L4 

(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,
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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 MBD3L4 gene: 
NM_001164419.1  

Unigene Cluster for MBD3L4:

Methyl-CpG binding domain protein 3-like 4
Hs.723810
Unigene Representative Sequence: NM_001164419
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000381394(uc021unr.1)

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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

MBD3L4 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 MBD3L4 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.723810
    SABiosciences Custom PCR Arrays for MBD3L4
Primer
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In Situ
Assay Products:
 

 
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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 MBD3L4 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 MBD3L4 (if available)
TreeFam Gene Tree for MBD3L4 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for MBD3L4 gene
MBD3L51 2  MBD3L31 2  MBD3L21 2  LOC7294581 2  MBD22  MBD3L12  MBD32  
5 SIMAP similar genes for MBD3L4 using alignment to 1 protein entry:     MB3L4_HUMAN:
MBD3L3    MBD3L5    MBD3L2    MBD3L1    NY-CO-41

MBD3L4 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

10/11 NCBI SNPs in MBD3L4 are shown (see all 11    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2019923351,2
----7041718(+) TTTCTC/TGTTGT 1 -- us2k10--------
rs2014181221,2
----7037333(+) TTAACA/GGCCGG 1 -- ds50010--------
rs2014692841,2
----7037868(+) GACTGA/CGCTTC 1 -- ut310--------
rs2006656061,2
----7040159(+) ATAGCC/TGTAGA 1 -- ut510--------
rs2021292901,2
----7037449(+) TCTCTA/GCTAAA 1 -- ds50010--------
rs1152436091,2
----7039982(+) TATTAA/CCACCT 1 -- int10--------
rs284210141,2
----7037284(+) GCCACA/GGCGCC 1 -- ds50010--------
rs2010428581,2
----7041692(+) CTTTGC/GTTTCC 1 -- us2k10--------
rs2004727521,2
----7037655(+) AAATCA/GTGGTA 1 -- ds50010--------
rs777346191,2
----7042092(+) GTCTTC/TCTTTC 1 -- us2k11Minor allele frequency- T:0.50NA 2

HapMap Linkage Disequilibrium report for MBD3L4 (7037755 - 7040190 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 13 variations for MBD3L4
     13 CNVs: 78051 89048 8862 9301 78050 67451 34508 89049 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
  --

(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 article for MBD3L4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MBD3L4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)

(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: 653656 HGNC: 37206 Ensembl:ENSG00000205718 euGenes: HUgn653656 ECgene: MBD3L4
H-InvDB: MBD3L4

(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
  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MBD3L4 gene:
Search GeneIP for patents involving MBD3L4

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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