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

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)
About This Section

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
Paired Box Gene 5 (B-Cell Lineage Specific Activator Protein)1     Transcription Factor PAX 52
Paired Box Gene 5 (B-Cell Lineage Specific Activator)1     B-Cell-Specific Transcription Factor3

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

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 lymphoplasmacytic lymphoma, and diffuse large b-cell lymphoma of the central nervous system. GO annotations related to this gene include DNA binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PAX5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus
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 O75933 Q5SFM2 Q6S728 Q6S729 Q6S730 Q6S731 Q6S732
Alternative splicing: 6 isoforms:  Q02548-1   Q02548-2   Q02548-3   Q02548-4   Q02548-5   Q02548-6   

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

Explore proteomics data for PAX5 at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02548

  • PAX5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PAX5 Protein Expression
    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  

    Human Recombinant Protein Products for PAX5: 
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    OriGene Custom Protein Services for PAX5
    GenScript Custom Purified and Recombinant Proteins Services for PAX5
    Novus Biologicals PAX5 Proteins
    Novus Biologicals PAX5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX5 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    PAX5 for ontologies           About GeneDecksing



    PAX5 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAX5
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    Novus Biologicals PAX5 Antibodies
    Abcam antibodies for PAX5
    Cloud-Clone Corp. Antibodies for PAX5 
    ThermoFisher Antibody for PAX5
    LSBio Antibodies in human, mouse, rat for PAX5 

    Assay Products for PAX5: 
    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)
    About This Section
    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,
    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

    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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for PAX5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    miRNA
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    8/12 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PAX5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX5

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PAX5

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PAX5 (see all 6)
    OriGene ORF clones in mouse, rat for PAX5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Sirion Biotech Customized lentivirus for stable overexpression of PAX5 
                         Customized lentivirus expression plasmids for stable overexpression of PAX5 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PAX5
    Search LifeMap BioReagents cell lines for PAX5
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX5


    (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

    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
    5C-MYB transcription factor network
    C-MYB transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PAX5
        Transcription factors in neurogenesis


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/27 Interacting proteins for PAX5 (Q025483 ENSP000003508444) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----
    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 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

    PAX5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PAX5

    10/33 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)

    Search CenterWatch for drugs/clinical trials and news about PAX5

    (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 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
    miRNA
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    8/12 QIAGEN miScript miRNA 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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    Sirion Biotech Customized lentivirus for stable overexpression of PAX5 
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      QIAGEN 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 

    24/184 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™, 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

    PAX5 expression in normal human tissues (normalized intensities)      PAX5 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             B-cell Progenitor Cells Peripheral Blood
     
     Lymph (Hematopoietic System)    fully expand to see all 4 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Isthmus Cells Neural Plate
             Metencephalon
             brain/midbrain/lateral wall   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Neural Ectoderm (Nervous System)
             Isthmus Cells Neural Plate

    See PAX5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAX5

    SOURCE GeneReport for Unigene cluster: Hs.654464
        SABiosciences Expression via Pathway-Focused 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

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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 PAX5 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax51 , 5 paired box gene 51, 5 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)
    About This Section
    Paralogs for PAX5 gene
    PAX12  PAX72  PAX32  PAX22  PAX82  PAX62  PAX92  PAX42  
    9 SIMAP similar genes for PAX5 using alignment to 27 protein entries:     PAX5_HUMAN (see all proteins):
    PAX6    PAX2    PAX8    PAX9    PAX1    PAX4
    PAX3    Pax9    PAX7

    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) 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

    10/4200 SNPs in PAX5 are shown (see all 4200)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    rs1924184381,2
    C--36838787(+) TGGGGG/TGGCCC 1 -- ut310--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 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 SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 167414    OMIM disorders: --

    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

  • 20/70 diseases for PAX5 (see all 70):    About MalaCards
    lymphoplasmacytic lymphoma    diffuse large b-cell lymphoma of the central nervous system    nodal marginal zone b-cell lymphoma    lymphocyte-rich classical hodgkin lymphoma
    central nervous system lymphoma    primary mediastinal large b-cell lymphoma    marginal zone b-cell lymphoma    b-cell lymphomas
    anaplastic large cell lymphoma    splenic marginal zone lymphoma    hyperparathyroidism    osteoporosis, postmenopausal
    alveolar rhabdomyosarcoma    macroglobulinemia    paget's disease of bone    crohn's disease
    plasmacytoma    primary effusion lymphoma    waldenstrom macroglobulinemia    primary hyperparathyroidism

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

    PAX5 for disorders           About GeneDecksing

    10/50 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)
    About This Section

    PubMed articles for PAX5 gene, integrated from 9 sources (see all 374):
    (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. (1992)
    2. PAX5 mutations occur frequently in adult B-cell proge nitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated wi th BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study. (PubMed id 19587702)1, 4, 9 Familiades J....Delabesse E. (2009)
    3. 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. (2004)
    4. Structural studies of Ets-1/Pax5 complex formation on DNA. (PubMed id 11779502)1, 2, 9 Garvie C.W....Wolberger C. (2001)
    5. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. (PubMed id 17344859)1, 2, 9 Mullighan C.G.... Downing J.R. (2007)
    6. Genome-wide scan for loci of adolescent obesity and th eir relationship with blood pressure. (PubMed id 22013104)1, 4 Melka M.G....Pausova Z. (2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family. (PubMed id 10811620)1, 2 Eberhard D.... Busslinger M. (2000)
    9. Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR). (PubMed id 9742255)1, 2 Verkoczy L.K. and Berinstein N.L. (1998)
    10. Mapping of the human homologs of the murine paired-box-containing genes. (PubMed id 8431641)1, 3 Pilz A.J....Abbott C.M. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5079 HGNC: 8619 AceView: PAX5 Ensembl:ENSG00000196092 euGenes: HUgn5079
    ECgene: PAX5 Kegg: 5079 H-InvDB: PAX5

    (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 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.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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