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

PBX4 Gene

protein-coding   GIFtS: 48
GCID: GC19M019672

pre-B-cell leukemia homeobox 4

(Previous name: pre-B-cell leukemia transcription factor 4 )
 Explore 3 diseases affiliated with
PBX4 via our new
 Human Malady Compendium 
Biological research products
for PBX4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Pre-B-Cell Leukemia Homeobox 41 2
Pre-B-Cell Leukemia Transcription Factor 41 2
Homeobox Protein PBX42 3

External Ids:    HGNC: 134031   Entrez Gene: 807142   Ensembl: ENSG000001057177   OMIM: 6081275   UniProtKB: Q9BYU13   
ORGUL members:         
NONCODE:n410746    

Export aliases for PBX4 gene to outside databases

Previous GC identifers: GC19M020166 GC19M020063 GC19M019517 GC19M019533 GC19M019234


(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 PBX4:
This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins
that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through
Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the
protein have not been determined. Alternatively spliced transcript variants have been observed for this gene.
(provided by RefSeq, May 2011)




(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_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PBX4 gene promoter:
         Max1   PPAR-gamma1   Tal-1   p53   IRF-7A   SEF-1 (1)   Olf-1   PPAR-gamma2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPBX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for PBX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PBX4


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

Entrez Gene cytogenetic band: 19p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p12

PBX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PBX4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M019672:  view genomic region     (about GC identifiers)

Start:
19,672,522 bp from pter      End:
19,729,725 bp from pter
Size:
57,204 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: PBX4_HUMAN, Q9BYU1 (See protein sequence)
Recommended Name: Pre-B-cell leukemia transcription factor 4  
Size: 374 amino acids; 40854 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=BC033067; Type=Frameshift; Positions=137;
Secondary accessions: A5D8Y0 B3KUK9

Explore the universe of human proteins at neXtProt for PBX4: NX_Q9BYU1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYU1

  • PBX4 Protein expression data from MOPED and PaxDb:    About this image 
    PBX4 Protein Expression
    REFSEQ proteins: NP_079521.1  
    ENSEMBL proteins: 
     ENSP00000251203   ENSP00000453348   ENSP00000453069  

    Human Recombinant Protein Products for PBX4: 
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    Uscn Proteins for PBX4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001741XY body IEA--
    GO:0005634nucleus IC11335119

    PBX4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PBX4


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

    PBX4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005542 PBX
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9BYU1

    ProtoNet protein and cluster: Q9BYU1

    UniProtKB/Swiss-Prot: PBX4_HUMAN, Q9BYU1
    Similarity: Belongs to the TALE/PBX homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding ISS11335119
         
    PBX4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PBX4 

    miRNA
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    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PBX4


    (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 PBX4

    5/7 Interacting proteins for PBX4 (Q9BYU13) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JDP2Q8WYK23I2D: score=1 
    MEIS1O004703I2D: score=1 
    MEIS2O147703I2D: score=1 
    MEIS3Q996873I2D: score=1 
    NFE2Q166213I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter IC11335119
    GO:0045893positive regulation of transcription, DNA-dependent IC11335119

    PBX4 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PBX4
    Search CenterWatch for drugs/clinical trials and news about PBX4 

    (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, Sirion Biotech, 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 PBX4 gene: 
    NM_025245.2  

    Unigene Cluster for PBX4:

    Pre-B-cell leukemia homeobox 4
    Hs.466257  [show with all ESTs]
    Unigene Representative Sequence: NM_025245
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558276 ENST00000251203(uc010xra.2 uc002nmy.3 uc010xqz.2)
    ENST00000557978 ENST00000559264 ENST00000558222 ENST00000559735

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PBX4:
    hsa-miR-3163 hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidPBX4 3' UTR sequence
    Inhib. RNA
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    Sirion Biotech Custom design and validation of potent shRNA sequences against PBX4 
    Clone
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    GenScript: all cDNA clones in your preferred vector: PBX4 (NM_025245)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PBX4 
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    Additional cDNA sequence: 

    AJ300182.1 AK097427.1 AK301631.1 BC033067.1 BC141859.1 BC143588.1 BC143589.1 NR_038198.1 

    5 DOTS entries:

    DT.40126527  DT.92415764  DT.97810645  DT.105265  DT.121493031 

    24/40 AceView cDNA sequences (see all 40):

    AJ300182 AI199900 AK097427 NM_025245 BG697418 BM474457 BC033067 BX280620 
    BU683358 BG683004 BE298082 BI016693 BM969616 AI652414 AA913582 BE298279 
    BQ189744 AW236536 BM449730 AA904552 W93274 AW248546 BU686586 AI659966 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PBX4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                    -     -                             -                           
    SP2:                    -     -           -                                             
    SP3:                                      -                 -                           
    SP4:                                                                                    


    ECgene alternative splicing isoforms for PBX4

    (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

    PBX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCTGCTGC
    PBX4 Expression
    About this image
    See PBX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PBX4

    SOURCE GeneReport for Unigene cluster: Hs.466257
        SABiosciences Custom PCR Arrays for PBX4

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PBX4

    (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 PBX4 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pbx41 , 5 pre B cell leukemia homeobox 41, 5 82.97(n)1
    80.49(a)1
      8 (33.92 cM)5
    807201  NM_001024954.11  NP_001020125.11 
     698326245 
    chicken
    (Gallus gallus)
    Aves PBX41 pre-B-cell leukemia homeobox 4 78.35(n)
    79.51(a)
      426087  XM_423764.3  XP_423764.1 
    lizard
    (Anolis carolinensis)
    Reptilia PBX46
    --
    67(a)
    1 ↔ 1
    GL343198.1(4187860-4225463)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01017151.16
    pbx46
    (see all 3)
    pre-B-cell leukemia transcription factor 4
    (see all 3)
    80(a)
    67(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    Zv9_NA116(3881-6636)
    3(53638912-53714493)
    fruit fly
    (Drosophila melanogaster)
    Insecta exd3 brain development specific RNA polymerase II
    transcription more
    77(a)   14A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-203   -- 60(a)
    (best of 2)
      III(7051642-7053281)   --


    ENSEMBL Gene Tree for PBX4 (if available)
    TreeFam Gene Tree for PBX4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PBX4 gene
    PBX32  PBX22  PBX12  
    4 SIMAP similar genes for PBX4 using alignment to 2 protein entries:     PBX4_HUMAN (see all proteins):
    PBX1    PBX3    PBX2    TGIF1

    PBX4 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

    10/939 NCBI SNPs in PBX4 are shown (see all 939    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1922729871,2
    --19672026(+) AAACCC/TCATCT 2 -- ds50010--------
    rs1383047911,2
    --19672122(+) TTGAAC/TCTGGG 2 -- ds50010--------
    rs2006345281,2
    --19672197(+) TCTGT-/CCCCCA 2 -- ds50010--------
    rs713383281,2
    C--19672200(+) TCCCC-/ACAAAA 2 -- ds50011Minor allele frequency- A:0.50NA 2
    rs790566071,2
    C,F--19672201(+) TCCCCA/CAAAAA 2 -- ds50014Minor allele frequency- C:0.25WA NA CSA 8
    rs1897574011,2
    --19672244(+) GAGACA/GAGGTC 2 -- ds50010--------
    rs7502161,2
    C,F,A--19672267(-) GACCCG/ATCTGG 2 -- ds50015Minor allele frequency- A:0.27NA EA 246
    rs7502151,2
    C,F,A--19672317(-) AGCACA/TTTGAG 2 -- ds50019Minor allele frequency- T:0.47NA WA CSA EA 254
    rs1170840171,2
    --19672356(+) AGCCAG/AGACAT 2 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1813409721,2
    --19672438(+) TGAGTA/GGCAAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for PBX4 (19672522 - 19729725 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PBX4: --
    Human Gene Mutation Database (HGMD): PBX4

    SABiosciences Cancer Mutation PCR Assays
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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

    PBX4 for disorders           About GeneDecksing

    OMIM gene information: 608127    OMIM disorders: --

    3 diseases for PBX4:    About MalaCards
    t-cell leukemia    leukemia    cholesterol

    Human Genome Epidemiology (HuGE) Navigator: PBX4 (6 documents)

    Export disorders for PBX4 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 PBX4 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with PBX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Pbx4, a new Pbx family member on mouse chromosome 8 is expressed during spermatogenesis. (PubMed id 11335119)1, 2 Wagner K.... Poepperl H. (2001)
    4. Sex-specific association of rs16996148 SNP in the NCAN /CILP2/PBX4 and serum lipid levels in the Mulao and Han populations. (PubMed id 22208664)1 Yan T.T....Pan S.L. (2011)
    5. MEIS1, PREP1, and PBX4 are differentially expressed in acute lymphoblastic leukemia: association of MEIS1 expression with higher proli feration and chemotherapy resistance. (PubMed id 22185299)1 Rosales-Avina J.A....Jave-Suarez L.F. (2011)
    6. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
    7. Pharmacogenetic analysis of lipid responses to rosuva statin in Chinese patients. (PubMed id 20679960)1 Hu M....Tomlinson B. (2010)
    8. Common variants at 30 loci contribute to polygenic dyslipidemia. (PubMed id 19060906)1 Kathiresan S....Cupples L.A. (2009)
    9. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (PubMed id 18193044)1 Kathiresan S....Orho-Melander M. (2008)
    10. Polymorphisms at newly identified lipid associated loci are associated with blood lipids and cardiovascular disease an Asian Malay population. (PubMed id 18987386)1 Tai E.S....Seielstad M. (2008)

    (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: 80714 HGNC: 13403 AceView: PBX4 Ensembl:ENSG00000105717 euGenes: HUgn80714
    ECgene: PBX4 H-InvDB: PBX4

    (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 PBX4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PBX4 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 PBX4 gene:
    Search GeneIP for patents involving PBX4

    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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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