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MBD3L3 Gene

protein-coding   GIFtS: 32
GCID: GC19M007057

Methyl-CpG Binding Domain Protein 3-Like 3

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(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 31 2
MBD3-Like Protein 32 3
MBD3-Like 32
Putative Methyl-CpG-Binding Domain Protein 3-Like 32

External Ids:    HGNC: 372051   Entrez Gene: 6536572   Ensembl: ENSG000001823157   UniProtKB: A6NE823   

Export aliases for MBD3L3 gene to outside databases

Previous GC identifer: GC19M007010


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MBD3L3 Gene:
MBD3L3 (methyl-CpG binding domain protein 3-like 3) is a protein-coding gene. 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 MBD3L3 gene promoter:
         Bach1   STAT1   HTF   STAT1beta   STAT3   SEF-1 (1)   STAT1alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBD3L3


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

MBD3L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD3L3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M007057:  view genomic region     (about GC identifiers)

Start:
7,056,216 bp from pter      End:
7,058,651 bp from pter
Size:
2,436 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MB3L3_HUMAN, A6NE82 (See protein sequence)
Recommended Name: Putative methyl-CpG-binding domain protein 3-like 3  
Size: 208 amino acids; 23095 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 MBD3L3: NX_A6NE82

Explore proteomics data for MBD3L3 at MOPED


See MBD3L3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001157897.1  
ENSEMBL proteins: 
 ENSP00000333183  

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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 A6NE82

ProtoNet protein and cluster: A6NE82

UniProtKB/Swiss-Prot: MB3L3_HUMAN, A6NE82
Similarity: Belongs to the MBD3L family


Find genes that share domains with MBD3L3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for MBD3L3

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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

(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBD3L3
Interactions:

    Search GeneGlobe Interaction Network for MBD3L3

Gene Ontology (GO): 2 biological process terms:    About this table

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

Find genes that share ontologies with MBD3L3           About GenesLikeMe



(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 Tocris compounds for MBD3L3 (MB3L3)



(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 MBD3L3 gene: 
NM_001164425.1  

Unigene Cluster for MBD3L3:

Methyl-CpG binding domain protein 3-like 3
Hs.448960  [show with all ESTs]
Unigene Representative Sequence: NM_001164425
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000333843(uc021uns.1)
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1 DOTS entry:

DT.121427333 

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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MBD3L3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MBD3L3 Expression
About this image

MBD3L3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MBD3L3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.448960
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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)
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This gene was present in the common ancestor of animals.

Orthologs for MBD3L3 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 methyl-CpG binding domain protein 3-like 2 56.75(n)
39.51(a)
  234988  NM_144934.3  NP_659183.3 
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 MBD3L3 (if available)
TreeFam Gene Tree for MBD3L3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MBD3L3 gene
MBD3L41 2  MBD3L51 2  MBD3L21 2  LOC729458  MBD22  MBD3L12  MBD32  
5 SIMAP similar genes for MBD3L3 using alignment to 1 protein entry:     MB3L3_HUMAN:
MBD3L2    MBD3L4    MBD3L5    MBD3L1    NY-CO-41

Find genes that share paralogs with MBD3L3           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 MBD3L3 (see all 28)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs16904271,2
A--7055799(+) CggccA/Gggcaa 1 -- ds50010--------
rs16517531,2
C--7055805(+) GGCAAG/CGTGGC 1 -- ds50011Minor allele frequency- C:0.00NA 2
rs16517621,2
F,A--7055920(-) ttttgC/Tatttt 1 -- ds50010--------
rs1810429001,2
--7056096(+) ACAAAA/CAAAAC 1 -- ds50010--------
rs1416210551,2
C--7056116(+) AAATCA/GTGGTA 1 -- ds50010--------
rs1454668701,2
--7056117(+) AATCAC/TGGTAA 1 -- ds50010--------
rs2010415441,2
C,F--7056329(+) GACTGC/ACTTCA 1 -- ut311Minor allele frequency- A:0.34EU 173
rs2020008651,2
F--7056338(+) TCATCT/CACATG 2 /R /G mis11Minor allele frequency- C:0.03EU 155
rs2000911341,2
F--7056341(+) TCTACA/CTGTCA 2 G C mis11Minor allele frequency- C:0.04EU 139
rs2008498651,2
F--7056378(+) TCTGCC/TTGCAA 2 Q syn11Minor allele frequency- T:0.06EU 350

HapMap Linkage Disequilibrium report for MBD3L3 (7056216 - 7058651 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for MBD3L3:    About this table    
Variant IDTypeSubtypePubMed ID
nsv821572CNV Duplication20802225
esv2751810CNV Loss17911159
nsv910955CNV Gain21882294
dgv393n27CNV Gain19166990
dgv3708n71CNV Gain21882294
esv2751809CNV Gain17911159
dgv136e55CNV Gain17911159
nsv517794CNV Gain+Loss19592680
esv33729CNV Gain+Loss17666407
esv24114CNV Gain+Loss19812545

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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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  --

(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 article for MBD3L3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with MBD3L3)
    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. (Nature 2004)

(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: 653657 HGNC: 37205 Ensembl:ENSG00000182315 euGenes: HUgn653657 ECgene: MBD3L3
H-InvDB: MBD3L3

(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 MBD3L3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MBD3L3 gene:
Search GeneIP for patents involving MBD3L3

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, eBioscience, antibodies-online, 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
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      MBD3L3 gene at Home site.
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