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PAX5 Gene

protein-coding   GIFtS: 65
GCID: GC09M036828

Paired Box 5

(Previous names: paired box gene 5 (B-cell lineage specific activator protein),...)
  See related diseases
at  

(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
Paired Box 51 2     Paired Box Homeotic Gene 52
BSAP2 3 5     Paired Box Protein Pax-52
B-Cell Lineage Specific Activator1 2     Paired Domain Gene 52
ALL32 5     Transcription Factor PAX 52
Paired Box Gene 5 (B-Cell Lineage Specific Activator Protein)1     B-Cell-Specific Transcription Factor3
Paired Box Gene 5 (B-Cell Lineage Specific Activator)1     

External Ids:    HGNC: 86191   Entrez Gene: 50792   Ensembl: ENSG000001960927   OMIM: 1674145   UniProtKB: Q025483   

Export aliases for PAX5 gene to outside databases

Previous GC identifers: GC09M037150 GC09M037007


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PAX5 Gene:
This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this
gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription
factors are important regulators in early development, and alterations in the expression of their genes are
thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator
protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been
detected in developing CNS and testis and so the encoded protein may also play a role in neural development and
spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in
small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation
brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the
deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative
splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for PAX5 Gene:
PAX5 (paired box 5) is a protein-coding gene. Diseases associated with PAX5 include diffuse large b-cell lymphoma of the central nervous system, and lymphoplasmacytoid lymphoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX1.

UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548
Function: May play an important role in B-cell differentiation as well as neural development and spermatogenesis.
Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene

Gene Wiki entry for PAX5 Gene


(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:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAX5 gene promoter:
         AML1a   NRSF form 1   NRSF form 2   C/EBPalpha   HNF-4alpha1   SRY   FOXO4   COMP1   HOXA5   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PAX5 promoter sequence
   Search Chromatin IP Primers for PAX5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAX5


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.2   HGNC cytogenetic band: 9p13.2

PAX5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX5 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M036828:  view genomic region     (about GC identifiers)

Start:
36,833,272 bp from pter      End:
37,034,476 bp from pter
Size:
201,205 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548 (See protein sequence)
Recommended Name: Paired box protein Pax-5  
Size: 391 amino acids; 42149 Da
Subunit: Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering
its DNA-binding properties
Developmental stage: Expressed at early B-cell differentiation, in the developing CNS and in adult testis
2 PDB 3D structures from and Proteopedia for PAX5:
1K78 (3D)        1MDM (3D)    
Secondary accessions: A3QVP6 A3QVP7 A3QVP8 C0KTF6 C0KTF7 C0KTF8 C0KTF9 C0KTG0 O75933 Q5SFM2
Q6S728 Q6S729 Q6S730 Q6S731 Q6S732
Alternative splicing: 11 isoforms:  Q02548-1   Q02548-2   Q02548-3   Q02548-4   Q02548-5   Q02548-6   Q02548-7   Q02548-8   
Q02548-9   Q02548-10   Q02548-11   

Explore the universe of human proteins at neXtProt for PAX5: NX_Q02548

Explore proteomics data for PAX5 at MOPED

Post-translational modifications: 

  • O-glycosylated (Probable)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (11 alternative transcripts): 
    NP_001267476.1  NP_001267477.1  NP_001267478.1  NP_001267479.1  NP_001267480.1  NP_001267481.1  NP_001267482.1  NP_001267483.1  
    NP_001267484.1  NP_001267485.1  NP_057953.1  

    ENSEMBL proteins: 
     ENSP00000350844   ENSP00000367084   ENSP00000367071   ENSP00000367083   ENSP00000429637  
     ENSP00000429291   ENSP00000430773   ENSP00000404687   ENSP00000429359   ENSP00000429197  
     ENSP00000431038   ENSP00000412188   ENSP00000367078   ENSP00000429404   ENSP00000428670  

    PAX5 Human Recombinant Protein Products:

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    Novus Biologicals PAX5 Proteins
    Novus Biologicals PAX5 Lysates
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    Cloud-Clone Corp. Proteins for PAX5

    PAX5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAX5
    R&D Systems Antibodies for PAX5 (Pax5/BSAP)
    Cell Signaling Technology (CST) Antibodies for PAX5 
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    PAX5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PAX5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAX5
    Cloud-Clone Corp. CLIAs for PAX5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PAX: Paired boxes
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR001523 Paired_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR022130 Pax2_C
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q02548

    ProtoNet protein and cluster: Q02548

    1 Blocks protein domain: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548
    Similarity: Contains 1 paired domain


    PAX5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PAX5_HUMAN, Q02548
    Function: May play an important role in B-cell differentiation as well as neural development and spermatogenesis.
    Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene

         Genatlas biochemistry entry for PAX5:
    paired box (DNA binding) containing protein 5,with a truncated homeo domain,expressed in developing central
    nervous system,B cells and testis,subject to allele specific regulation during B-lymphopoiesis,involved in
    translocation t(9;14)(p13;q32) with diffuse large-cell lymphoma expressing Ki-1 (CD30) antigen (see KIS1) in the
    related splenic marginal zone lymphoma and in lymphoplasmacytic lymphoma

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
         
    PAX5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PAX5:
     Decreased viability 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Pax5):
     behavior/neurological  cellular  craniofacial  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  immune system  mortality/aging  nervous system  normal 
     skeleton 

    PAX5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pax5tm3.1Mbu for PAX5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAX5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAX5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAX5

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GCAGCCAAGCGTGACC 

    miRNA
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    Block miRNA regulation of human, mouse, rat PAX5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX5 (see all 12):
    hsa-miR-485-5p hsa-miR-3678-3p hsa-miR-3130-5p hsa-miR-615-5p hsa-miR-4254 hsa-miR-875-3p hsa-miR-1324 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidPAX5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PAX5
    Predesigned siRNA for gene silencing in human, mouse, rat PAX5

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: PAX5 (NM_016734)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX5

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX5


    (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 UniProtKB/Swiss-Prot
    PAX5_HUMAN, Q02548: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    PAX5 for ontologies           About GeneDecksing


    (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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    SuperPaths for PAX5 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    3Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    4Lymphocyte Signaling
    Lymphocyte Signaling
    5Id Signaling Pathway
    Id Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for PAX5
        Wnt / Hedgehog / Notch
    Lymphocyte Signaling

    2 BioSystems Pathways for PAX5
        Id Signaling Pathway
    C-MYB transcription factor network


    1 Kegg Pathway  (Kegg details for PAX5):
        Transcriptional misregulation in cancer


    PAX5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX5: 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAX5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PAX5 (Q025483 ENSP000003508444) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAXXQ9UER73, ENSP000003968764I2D: score=4 STRING: ENSP00000396876 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=4 
    ENSG00000206279Q9UER73I2D: score=4 
    ENSG00000227046Q9UER73I2D: score=4 
    ENSG00000231617Q9UER73I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS10524622
    GO:0006959humoral immune response TAS10524629

    PAX5 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for PAX5

    Selected Novoseek inferred chemical compound relationships for PAX5 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxypyridinoline 73.4 24 16027954 (3), 11451617 (2), 17007022 (2), 10652955 (1) (see all 13)
    alendronate 66.2 12 14671165 (2), 11354395 (1), 15240609 (1), 18982918 (1) (see all 9)
    risedronate 59.5 5 16696745 (2), 11354395 (1), 16781904 (1), 13678475 (1)
    cytidine 55.8 1 16541139 (1)
    teriparatide 52.6 1 16709314 (1)
    [alcl] 52.3 1 15116326 (1)
    2-methoxyestradiol 51 4 18192112 (2), 17257674 (1)
    vitamin d 48.9 3 18826856 (2), 11731182 (1)
    pyridinoline 48.3 5 12510820 (1), 16652430 (1), 9626638 (1)
    25-hydroxyvitamin d 45.4 4 15479594 (1), 11420782 (1), 16696745 (1), 19841860 (1)



    PAX5 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PAX5 gene (11 alternative transcripts): 
    NM_001280547.1  NM_001280548.1  NM_001280549.1  NM_001280550.1  NM_001280551.1  NM_001280552.1  NM_001280553.1  NM_001280554.1  
    NM_001280555.1  NM_001280556.1  NM_016734.2  

    Unigene Cluster for PAX5:

    Paired box 5
    Hs.654464  [show with all ESTs]
    Unigene Representative Sequence: NM_016734
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358127(uc011lpt.1 uc011lpu.1 uc011lpv.1 uc003zzo.1 uc011lpw.1 uc011lpx.1 uc011lpy.1 uc010mls.1 uc011lpz.1 uc011lqa.1 uc010mlq.1 uc011lqb.1 uc010mlo.1 uc010mlp.1 uc011lqc.1 uc010mlr.1)
    ENST00000377853 ENST00000377840 ENST00000377852 ENST00000523241 ENST00000520154
    ENST00000520281 ENST00000446742(uc011lqd.1) ENST00000522003 ENST00000523145(uc011lqe.1 uc011lqf.1 uc011lqg.1)
    ENST00000523493 ENST00000414447 ENST00000377847 ENST00000524340 ENST00000522932
    ENST00000520083
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    hsa-miR-485-5p hsa-miR-3678-3p hsa-miR-3130-5p hsa-miR-615-5p hsa-miR-4254 hsa-miR-875-3p hsa-miR-1324 hsa-miR-519e*
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PAX5
      QuantiFast Probe-based Assays in human, mouse, rat PAX5

    Additional mRNA sequence: 

    AF080573.1 AY463952.1 AY463953.1 AY463954.1 AY463955.1 AY463956.1 AY463957.1 FJ626406.1 
    FJ626407.1 FJ626408.1 FJ626409.1 FJ626410.1 FJ626411.1 FJ626412.1 FJ626413.1 FJ626414.1 
    FJ626415.1 FJ626416.1 FJ626417.1 FJ626418.1 FJ626419.1 FJ626420.1 FJ626421.1 FJ626422.1 
    FJ626423.1 FJ626424.1 FJ626425.1 M96944.1 U62539.1 

    4 DOTS entries:

    DT.100739385  DT.101981988  DT.95158876  DT.99999378 

    Selected AceView cDNA sequences (see all 184):

    AW502050 AY463955 BU431136 AA283934 AI248183 M96944 AW502288 BU180940 
    CF143256 AY463957 AA761870 BQ213182 AY463952 AY463954 AA736934 AY463956 
    AW502330 AA811569 BM480085 AA736581 AW575694 AI223402 BE676010 AA737457 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PAX5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                      
    SP2:                                      -               
    SP3:                                -                     
    SP4:                                -     -               
    SP5:                                -     -     -         


    ECgene alternative splicing isoforms for PAX5

    (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)
    About This Section

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    PAX5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGAGAAA
    PAX5 Expression
    About this image


    PAX5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Common Lymphoid Progenitor Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Tonsil (Hematopoietic System)
    PAX5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654464
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX5: 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PAX5
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX5
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    QuantiFast Probe-based Assays in human, mouse, rat PAX5
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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 PAX5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax51 , 5 paired box gene 55
    paired box 51
    92.5(n)1
    99.23(a)1
      4 (23.55 cM)5
    185071  NM_008782.21  NP_032808.11 
     445311455 
    chicken
    (Gallus gallus)
    Aves PAX51 paired box 5 82.01(n)
    93.86(a)
      387330  NM_204424.1  NP_989755.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAX56
    paired box 5
    94(a)
    1 ↔ 1
    GL343201.1(3094778-3348516)
    African clawed frog
    (Xenopus laevis)
    Amphibia pax5-A-prov2 paired box protein 77.88(n)    AJ010503.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pax52 paired box gene 5 76.52(n)   60636  AF072548.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Poxn3 antennal morphogenesis specific RNA
    polymerase more
    73(a)
    (best of 3)
      52C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea egl-383 Human paired box protein like 72(a)
    (best of 3)
      IV(10106948-10109578)   --


    ENSEMBL Gene Tree for PAX5 (if available)
    TreeFam Gene Tree for PAX5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAX5 gene
    PAX12  PAX72  PAX32  PAX22  PAX82  PAX62  PAX92  PAX42  
    9 SIMAP similar genes for PAX5 using alignment to 22 protein entries:     PAX5_HUMAN (see all proteins):
    PAX6    PAX2    PAX8    PAX9    PAX1    Pax9
    PAX4    PAX7    PAX3

    PAX5 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), 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 PAX5 (see all 4215)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0706824
    Leukemia, acute lymphoblastic, 3 (ALL3)4--see VAR_0706822 G S mis40--------
    rs734511291,2
    C,F--36838063(+) AGAGAT/GGCCAG 1 -- ds50012Minor allele frequency- G:0.08WA 120
    rs1484191141,2
    --36838254(+) GGCTTC/TCTTGG 1 -- ds50010--------
    rs413114221,2
    C,F--36838301(+) CAGAAC/ACATCT 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1425133791,2
    C--36838329(+) CAACTA/CTCCTC 1 -- ds50010--------
    rs734511311,2
    C,F--36838370(+) ACAGGG/AAACAC 1 -- ds50012Minor allele frequency- A:0.08WA 120
    rs1509247261,2
    --36838511(+) CTTAGC/TGGTGG 1 -- ds50010--------
    rs745019551,2
    C,F--36838541(+) TCTCCC/ATGCAT 1 -- ut311Minor allele frequency- A:0.01WA 118
    rs1426531141,2
    C--36838668(+) AAATAC/TTATTG 1 -- ut310--------
    rs1127412991,2
    C,F--36838681(+) CCTCAG/AGTGCC 1 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for PAX5 (36833272 - 37034476 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PAX5 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738430CNV Deletion23290073
    esv2738431CNV Deletion23290073
    esv1261217CNV Insertion17803354
    nsv516601CNV Loss19592680
    nsv522345CNV Loss19592680
    nsv466388CNV Loss19166990
    nsv6531CNV Loss18451855
    nsv466389CNV Loss19166990
    esv22138CNV Loss19812545
    nsv466387CNV Loss19166990

    Human Gene Mutation Database (HGMD): PAX5
    3 Site Specific Mutation Identification with PCR Assays for PAX5:
    Cosmic IdAA Change
    85953p.P80R
    85951p.V26G
    85890p.A322fs*19
    SeqTarget long-range PCR primers for resequencing PAX5
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 167414   
    OMIM disorders: 615545  
    UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548
  • Note=A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation
    t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with
    ETV6
  • Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]: A subtype of acute leukemia, a cancer of the white
    blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy
    diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an
    early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease
    in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying
    degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and
    lymphonodes. Note=Disease susceptibility is associated with variations affecting the gene represented in this
    entry

  • Selected diseases for PAX5 (see all 78):    
    About MalaCards
    diffuse large b-cell lymphoma of the central nervous system    lymphoplasmacytoid lymphoma    lymphoplasmacytic lymphoma    nodal marginal zone b-cell lymphoma
    lymphocyte-rich classical hodgkin lymphoma    acute lymphocytic leukemia    marginal zone b-cell lymphoma    central nervous system lymphoma
    diffuse large b-cell lymphoma    primary mediastinal large b-cell lymphoma    mediastinitis    b-cell lymphomas
    nodular lymphocyte predominant hodgkin lymphoma    waldenstrom macroglobulinemia    macroglobulinemia    histiocytic sarcoma
    hodgkin's lymphoma    precursor b-cell acute lymphoblastic leukemia    splenic marginal zone lymphoma    alveolar rhabdomyosarcoma

    3 diseases from the University of Copenhagen DISEASES database for PAX5:
    Lymphoma     Leukemia     Macroglobulinemia

    PAX5 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PAX5 gene (see all 50)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma b-cell 74.5 30 19725825 (3), 16049306 (3), 9694719 (2), 15832095 (2) (see all 15)
    waldenstrom macroglobulinemia 73.6 12 10350329 (2), 15116325 (2), 8943844 (1), 9570138 (1) (see all 7)
    hodgkin disease 67.4 19 12609061 (2), 16648862 (2), 20118907 (2), 12360049 (2) (see all 11)
    lymphoma 64.5 56 9694719 (3), 9808580 (3), 9850179 (3), 19100628 (3) (see all 24)
    lymphoma small lymphocytic 60.6 2 9808580 (1), 8650231 (1)
    lymphoma non-hodgkins 60.4 18 16648862 (3), 19100628 (2), 9694719 (1), 17016584 (1) (see all 13)
    anaplastic large cell lymphoma 60.4 14 20118907 (6), 10556196 (2), 12609061 (1), 16185503 (1) (see all 5)
    osteoporosis 59.6 5 14671165 (2), 20493428 (1), 14962813 (1), 17007022 (1)
    b-all 57.7 16 16584581 (7), 20160164 (5), 16938666 (2), 20023257 (2)
    lymphoma follicular 56.5 8 9694719 (1), 16799206 (1), 18945749 (1), 16185503 (1)

    Genetic Association Database (GAD): PAX5
    Human Genome Epidemiology (HuGE) Navigator: PAX5 (4 documents)

    Export disorders for PAX5 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)
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    PubMed articles for PAX5 gene, integrated from 10 sources (see all 378):
    (articles sorted by number of sources associating them with PAX5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis. (PubMed id 1516825)1, 2, 3, 9 Adams B.... Busslinger M. (Genes Dev. 1992)
    2. PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study. (PubMed id 19587702)1, 4, 9 Familiades J....Delabesse E. (Leukemia 2009)
    3. Multiple isoforms of PAX5 are expressed in both lymphomas and normal B-cells. (PubMed id 19725825)1, 2, 9 Arseneau J.R.... Ouellette R.J. (Br. J. Haematol. 2009)
    4. Human Pax-5 C-terminal isoforms possess distinct transactivation properties and are differentially modulated in normal and malignant B cells. (PubMed id 15385562)1, 2, 9 Robichaud G.A....Ouellette R.J. (J. Biol. Chem. 2004)
    5. Structural studies of Ets-1/Pax5 complex formation on DNA. (PubMed id 11779502)1, 2, 9 Garvie C.W.... Wolberger C. (Mol. Cell 2001)
    6. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. (PubMed id 17344859)1, 2, 9 Mullighan C.G.... Downing J.R. (Nature 2007)
    7. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PubMed id 24013638)1, 2 Shah S....Offit K. (Nat. Genet. 2013)
    8. Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. (PubMed id 22013104)1, 4 Melka M.G....Pausova Z. (J. Clin. Endocrinol. Metab. 2012)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family. (PubMed id 10811620)1, 2 Eberhard D.... Busslinger M. (EMBO J. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 5079 HGNC: 8619 AceView: PAX5 Ensembl:ENSG00000196092 euGenes: HUgn5079
    ECgene: PAX5 Kegg: 5079 H-InvDB: PAX5

    (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 PAX5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PAX5 gene:
    Search GeneIP for patents involving PAX5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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