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

MBD3L5 Gene

protein-coding   GIFtS: 29
GCID: GC19P007030

Methyl-CpG Binding Domain Protein 3-Like 5

  Search for MBD3L5
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Methyl-CpG Binding Domain Protein 3-Like 51 2
MBD3-Like Protein 52 3
MBD3-Like 52
Putative Methyl-CpG-Binding Domain Protein 3-Like 52

External Ids:    HGNC: 372041   Entrez Gene: 2844282   Ensembl: ENSG000002372477   UniProtKB: A6NJ083   

Export aliases for MBD3L5 gene to outside databases

Previous GC identifer: GC19P006983


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

GeneCards Summary for MBD3L5 Gene: 
MBD3L5 (methyl-CpG binding domain protein 3-like 5) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBD3L5 gene promoter:
         STAT1   STAT1beta   STAT3   STAT1alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MBD3L5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBD3L5


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

MBD3L5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBD3L5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007030:  view genomic region     (about GC identifiers)

Start:
7,030,589 bp from pter      End:
7,033,022 bp from pter
Size:
2,434 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MB3L5_HUMAN, A6NJ08 (See protein sequence)
Recommended Name: Putative methyl-CpG-binding domain protein 3-like 5  
Size: 208 amino acids; 22976 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 MBD3L5: NX_A6NJ08

Explore proteomics data for MBD3L5 at MOPED 

MBD3L5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MBD3L5 Protein Expression

REFSEQ proteins: NP_001129979.1  
ENSEMBL proteins: 
 ENSP00000331435  

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

Graphical View of Domain Structure for InterPro Entry A6NJ08

ProtoNet protein and cluster: A6NJ08

UniProtKB/Swiss-Prot: MB3L5_HUMAN, A6NJ08
Similarity: Belongs to the MBD3L family


MBD3L5 for domains           About GeneDecksing


(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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MBD3L5

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 MBD3L5 (MB3L5)

Search CenterWatch for drugs/clinical trials and news about MBD3L5 / MB3L5

(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,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MBD3L5 gene: 
NM_001136507.1  

Unigene Cluster for MBD3L5:

Methyl-CpG binding domain protein 3-like 5
Hs.717312
Unigene Representative Sequence: NM_001136507
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000329753(uc010xjl.2)
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2 AceView cDNA sequences:

BX113115 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

MBD3L5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCCAAGGCCC
MBD3L5 Expression
About this image


See MBD3L5 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.717312
    SABiosciences Custom PCR Arrays for MBD3L5
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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 MBD3L5 gene from 3/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves --
--
24(a)
possible ortholog
AADN03025573.1(1868-4299)
zebrafish
(Danio rerio)
Actinopterygii mbd26
methyl-CpG binding domain protein 2
17(a)
1 → many
5(1437051-1456383)
fruit fly
(Drosophila melanogaster)
Insecta MBD-like6
MBD-like
13(a)
1 → many
3R(5385487-5387255)
        Species with no ortholog for MBD3L5

ENSEMBL Gene Tree for MBD3L5 (if available)
TreeFam Gene Tree for MBD3L5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for MBD3L5 gene
MBD3L41 2  MBD3L31 2  MBD3L21 2  LOC729458  MBD22  MBD3L12  MBD32  
6 SIMAP similar genes for MBD3L5 using alignment to 1 protein entry:     MB3L5_HUMAN:
MBD3L3    MBD3L4    MBD3L2    MBD3L1    NY-CO-41    MBD3

MBD3L5 for paralogs           About GeneDecksing



(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) 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 SNPs in MBD3L5 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
----------
rs1499401991,2
--7029086(+) GGAAAC/GCAAAG 1 -- us2k10--------
rs1997533461,2
C--7030780(+) TGGAAA/CGTTAT 1 -- int10--------
rs1410308321,2
C--7030783(+) AACGTG/TATACC 1 -- int10--------
rs2008531041,2
C--7030832(+) CTCATA/TTTTGC 1 -- int10--------
rs2012254941,2
C--7031004(+) AAAAA-/ATTAGT 1 -- int10--------
rs2015491061,2
F--7032338(+) AAAAGA/GAACAT 2 R syn11Minor allele frequency- G:0.01EU 191
rs791512151,2
C,F--7032880(+) CAGGCA/GGGCAG 2 Q R mis12Minor allele frequency- G:0.01NA EU 273
rs800724261,2
C--7032897(-) CCCACA/CTGTCA 2 G C mis10--------
rs786379721,2
C--7032902(+) GGTGGA/GTGAAG 2 G syn11Minor allele frequency- G:0.00NA 2
rs756275261,2
C,F--7032909(+) GAAGCT/GCAGTC 1 -- ut312Minor allele frequency- G:0.01NA EU 399

HapMap Linkage Disequilibrium report for MBD3L5 (7030589 - 7033022 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/12 variations for MBD3L5 (see all 12):    About this table     
Variant IDTypeSubtypePubMed ID
nsv821572CNV Duplication20802225
esv2751810CNV Loss17911159
nsv910954CNV Loss21882294
dgv393n27CNV Gain19166990
dgv3708n71CNV Gain21882294
esv2751809CNV Gain17911159
dgv136e55CNV Gain17911159
dgv3707n71CNV Gain21882294
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, Conferences by KenesGroup, 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 MBD3L5 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MBD3L5)
    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: 284428 HGNC: 37204 AceView: LOC284428 Ensembl:ENSG00000237247 euGenes: HUgn284428
ECgene: MBD3L5 H-InvDB: MBD3L5

(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 MBD3L5 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MBD3L5 gene:
Search GeneIP for patents involving MBD3L5

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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