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PAX3 Gene

protein-coding   GIFtS: 69
GCID: GC02M223064

Paired Box 3

(Previous names: Waardenburg syndrome 1, paired box gene 3 (Waardenburg syndrome...)
(Previous symbol: WS1)
  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 31 2     Waardenburg Syndrome 11
WS11 2 5     Paired Box Homeotic Gene 32
HUP22 3 5     Paired Box Protein Pax-32
CDHS2 5     Paired Domain Gene 32
WS32 5     Paired Domain Gene HuP22
Paired Box Gene 3 (Waardenburg Syndrome 1)1     HuP23

External Ids:    HGNC: 86171   Entrez Gene: 50772   Ensembl: ENSG000001359037   OMIM: 6065975   UniProtKB: P237603   

Export aliases for PAX3 gene to outside databases

Previous GC identifers: GC02M221089 GC02M221788 GC02M223029 GC02M223267 GC02M222890 GC02M222772 GC02M214918


(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 PAX3 Gene:
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically
contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal
development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand
syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between
PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in
transcripts encoding isoforms with different C-termini. (provided by RefSeq, Jul 2008)

GeneCards Summary for PAX3 Gene:
PAX3 (paired box 3) is a protein-coding gene. Diseases associated with PAX3 include alveolar rhabdomyosarcoma, and waardenburg syndrome type i. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX5.

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
Function: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural
development and myogenesis

Gene Wiki entry for PAX3 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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAX3 gene promoter:
         AP-2alpha isoform 2   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAX3 promoter sequence
   Search Chromatin IP Primers for PAX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAX3


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q36.1   HGNC cytogenetic band: 2q36.1

PAX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M223064:  view genomic region     (about GC identifiers)

Start:
223,064,606 bp from pter      End:
223,163,715 bp from pter
Size:
99,110 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760 (See protein sequence)
Recommended Name: Paired box protein Pax-3  
Size: 479 amino acids; 52968 Da
Subunit: Can bind to DNA as a homodimer or a heterodimer with PAX7. Interacts with PAXBP1; the interaction links
PAX3 to a WDR5-containing histone methyltransferase complex (By similarity). Interacts with DAXX
1 PDB 3D structure from and Proteopedia for PAX3:
3CMY (3D)    
Secondary accessions: G5E9C1 Q16448 Q494Z3 Q494Z4 Q53T90 Q6GSJ9 Q86UQ2 Q86UQ3
Alternative splicing: 8 isoforms:  P23760-1   P23760-2   P23760-3   P23760-4   P23760-5   P23760-6   P23760-7   P23760-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PAX3: NX_P23760

Explore proteomics data for PAX3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_000429.2  NP_001120838.1  NP_039230.1  NP_852122.1  NP_852123.1  NP_852124.1  NP_852125.1  NP_852126.1  

    ENSEMBL proteins: 
     ENSP00000375921   ENSP00000342092   ENSP00000343052   ENSP00000338767   ENSP00000375922  
     ENSP00000386750   ENSP00000386817   ENSP00000258387  

    PAX3 Human Recombinant Protein Products:

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    OriGene Purified Proteins for PAX3
    OriGene Protein Over-expression Lysate for PAX3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PAX3
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    Novus Biologicals PAX3 Proteins
    Novus Biologicals PAX3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX3

    PAX3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAX3
    R&D Systems Antibodies for PAX3
    Cell Signaling Technology (CST) Antibodies for PAX3 
    OriGene Antibodies for PAX3
    OriGene Custom Antibody Services for PAX3
    Novus Biologicals PAX3 Antibodies
    Abcam antibodies for PAX3
    Cloud-Clone Corp. Antibodies for PAX3
    ThermoFisher Antibody for PAX3
    LSBio Antibodies in human, mouse, rat for PAX3

    PAX3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PAX3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PAX3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAX3
    Cloud-Clone Corp. CLIAs for PAX3


    (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

    Selected InterPro protein domains (see all 6):
     IPR001523 Paired_dom
     IPR022106 Pax7
     IPR011991 WHTH_DNA-bd_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom

    Graphical View of Domain Structure for InterPro Entry P23760

    ProtoNet protein and cluster: P23760

    1 Blocks protein domain: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 paired domain


    PAX3 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: PAX3_HUMAN, P23760
    Function: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural
    development and myogenesis

         Genatlas biochemistry entry for PAX3:
    paired box (DNA binding) containing protein 3 (HuP2),with an homeo domain,mouse Pax3,splotch homolog,involved in
    neurogenesis and in melanogenesis through MITF transactivation ? and other processes (see
    BARMS2,WS1,WS2,WS3),interacting with HIRA,activating MYOD1 gene

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9500554
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI11029584
         
    PAX3 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 33 alleles(MGI details for Pax3) (see all 26):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    PAX3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pax3tm1.2Sjc for PAX3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAX3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAX3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAX3

    miRNA
    Products:
        
    miRTarBase miRNAs that target PAX3:
    hsa-mir-27a-3p (MIRT006521), hsa-mir-206 (MIRT004671), hsa-let-7e-5p (MIRT051642), hsa-mir-324-5p (MIRT043036), hsa-let-7b-5p (MIRT052081), hsa-mir-27b-3p (MIRT006522), hsa-mir-1 (MIRT004670)

    Block miRNA regulation of human, mouse, rat PAX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX3 (see all 37):
    hsa-miR-549 hsa-miR-200a hsa-miR-25 hsa-miR-16-1* hsa-miR-30d hsa-miR-3138 hsa-miR-141 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidPAX3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAX3
    Predesigned siRNA for gene silencing in human, mouse, rat PAX3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAX3

    Clone
    Products:
         
    OriGene clones in human, mouse for PAX3 (see all 45)
    OriGene ORF clones in mouse, rat for PAX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): PAX3 (NM_181457)
    Sino Biological Human cDNA Clone for PAX3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PAX3
    Browse ESI BIO Cell Lines and PureStem Progenitors for PAX3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX3


    (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
    PAX3_HUMAN, P23760: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    extracellular1

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

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

    PAX3 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 PAX3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    3TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    4Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein
    5Neural Crest Differentiation
    Neural Crest Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PAX3
        Melanocyte Development and Pigmentation

    1 Cell Signaling Technology (CST) Pathway for PAX3
        TGF-beta/Smad Signaling

    2 BioSystems Pathways for PAX3
        Neural Crest Differentiation
    Regulation of retinoblastoma protein



    1 Kegg Pathway  (Kegg details for PAX3):
        Transcriptional misregulation in cancer


    PAX3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX3: 
              Neurogenesis in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAX3

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

    Selected Interacting proteins for PAX3 (P237601, 2, 3 ENSP000003759214) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEOX2P502222, 3, ENSP000002620414MINT-15278 MINT-15279 I2D: score=5 STRING: ENSP00000262041
    DAXXQ9UER73, ENSP000003968764I2D: score=1 STRING: ENSP00000396876 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=1 
    ENSG00000206279Q9UER73I2D: score=1 
    ENSG00000227046Q9UER73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001755neural crest cell migration IEA--
    GO:0001843neural tube closure IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS9500554

    PAX3 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 PAX3

    6 Novoseek inferred chemical compound relationships for PAX3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-ethylmaleimide 5.73 2 12356307 (1)
    oligonucleotide 0 2 11590174 (1), 10063718 (1)
    tyrosine 0 2 10508520 (1), 18573711 (1)
    cysteine 0 3 16752906 (2), 12356307 (1)
    cycloheximide 0 1 15184910 (1)
    glutamine 0 1 10829299 (1)



    PAX3 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,
    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 PAX3 gene (8 alternative transcripts): 
    NM_000438.5  NM_001127366.2  NM_013942.4  NM_181457.3  NM_181458.3  NM_181459.3  NM_181460.3  NM_181461.3  

    Unigene Cluster for PAX3:

    Paired box 3
    Hs.42146  [show with all ESTs]
    Unigene Representative Sequence: NM_181458
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392069(uc002vmt.2 uc002vmy.2 uc002vmv.2) ENST00000344493(uc002vmw.2 uc002vmx.2)
    ENST00000350526 ENST00000336840(uc002vmz.2) ENST00000392070(uc010fwo.3)
    ENST00000409551 ENST00000464706 ENST00000555548 ENST00000409828(uc002vna.2)
    ENST00000258387
    miRNA
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    Block miRNA regulation of human, mouse, rat PAX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX3 (see all 37):
    hsa-miR-549 hsa-miR-200a hsa-miR-25 hsa-miR-16-1* hsa-miR-30d hsa-miR-3138 hsa-miR-141 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidPAX3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PAX3
    Predesigned siRNA for gene silencing in human, mouse, rat PAX3
    Clone
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    OriGene clones in human, mouse for PAX3 (see all 45)
    OriGene ORF clones in mouse, rat for PAX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): PAX3 (NM_181457)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PAX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX3
      QuantiTect SYBR Green Assays in human, mouse, rat PAX3
      QuantiFast Probe-based Assays in human, mouse, rat PAX3

    Additional mRNA sequence: 

    AK291278.1 AY251279.1 AY251280.1 BC063547.1 BC101299.3 BC101300.2 BC101301.2 BC101302.2 
    BC114363.2 L07483.1 S69369.1 S69370.1 U02309.1 

    7 DOTS entries:

    DT.452351  DT.100754940  DT.308173  DT.92454308  DT.100754939  DT.121028236  DT.100754941 

    Selected AceView cDNA sequences (see all 56):

    NM_000438 NM_013942 AI379568 BX108282 AI082656 NM_181457 NM_181460 NM_181458 
    NM_181461 N27673 N71677 AI382891 CA389778 NM_181459 N34360 N42824 
    N33148 AI804068 AI085624 AI263907 AI332917 S69370 BI829617 N34373 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PAX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAAGTGC
    PAX3 Expression
    About this image


    PAX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 74 entries
             Myoblasts Cervical Hypaxial Myotome
             Skeletal myocytes
     
     Somite (Muscoskeletal System)    fully expand to see all 59 entries
             Myoblasts Cervical Hypaxial Myotome
             Embryoid bodies
             mesenchyme/trunk mesenchyme/paraxial mesenchyme   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 11 entries
             Cardiac Neural Crest Cells Cardiac Neural Crest
             Neural crest-like cells
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 11 entries
             Diencephalic Neural Crest Cells Prechordal Mesenchyme
             Frontonasal Process
     
     Limb (Muscoskeletal System)    fully expand to see all 10 entries
             Myoblasts Forelimb Ventral Muscles
    PAX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.42146
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX3: 
              Neurogenesis in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX3
    QuantiTect SYBR Green Assays in human, mouse, rat PAX3
    QuantiFast Probe-based Assays in human, mouse, rat PAX3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX3

    (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 PAX3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax31 , 5 paired box gene 35
    paired box 31
    91.79(n)1
    98.76(a)1
      1 (39.79 cM)5
    185051  NM_001159520.11  NP_001152992.11 
     781012675 
    chicken
    (Gallus gallus)
    Aves PAX31 paired box 3 85.51(n)
    96.69(a)
      374127  NM_204269.1  NP_989600.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAX36
    paired box 3
    98(a)
    1 ↔ 1
    3(25696957-25827330)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377318862   -- 81.74(n)    137731886 
    zebrafish
    (Danio rerio)
    Actinopterygii pax3a1 paired box gene 3a 71.33(n)
    79.24(a)
      30532  NM_131277.1  NP_571352.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Poxn3 antennal morphogenesis specific RNA
    polymerase more
    67(a)   52C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea K06B9.53 paired box transcription factor 69(a)
    (best of 3)
      IV(4199863-4204573)   --


    ENSEMBL Gene Tree for PAX3 (if available)
    TreeFam Gene Tree for PAX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAX3 gene
    PAX52  PAX22  PAX82  PAX92  PAX72  PAX12  PAX62  PAX42  
    10 SIMAP similar genes for PAX3 using alignment to 1 protein entry:     PAX3_HUMAN:
    PAX-3    PAX7    PAX1    PAX6    PAX2    PRRX1
    PAX5    PAX9    Pax9    PAX8

    PAX3 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 PAX3 (see all 2186)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0038034
    Waardenburg syndrome 1 (WS1)4--see VAR_0038032 G D mis40--------
    VAR_0038004
    Waardenburg syndrome 1 (WS1)4--see VAR_0038002 G A mis40--------
    VAR_0175374
    Waardenburg syndrome 1 (WS1)4--see VAR_0175372 R C mis40--------
    VAR_0175364
    Waardenburg syndrome 1 (WS1)4--see VAR_0175362 W C mis40--------
    VAR_0037984
    Waardenburg syndrome 1 (WS1)4--see VAR_0037982 M V mis40--------
    VAR_0037934
    Waardenburg syndrome 1 (WS1)4--see VAR_0037932 P L mis40--------
    VAR_0038044
    Waardenburg syndrome 1 (WS1)4--see VAR_0038042 F S mis40--------
    VAR_0037974
    Waardenburg syndrome 1 (WS1)4--see VAR_0037972 V M mis40--------
    VAR_0175334
    Waardenburg syndrome 1 (WS1)4--see VAR_0175332 G R mis40--------
    VAR_0038054
    Waardenburg syndrome 1 (WS1)4--see VAR_0038052 V F mis40--------

    HapMap Linkage Disequilibrium report for PAX3 (223064606 - 223163715 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PAX3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516764CNV Loss19592680
    nsv834550CNV Gain17160897
    nsv834549CNV Gain17160897

    Human Gene Mutation Database (HGMD): PAX3
    Locus Specific Mutation Databases (LSDB): PAX3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAX3
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606597   
    OMIM disorders: 193500  148820  122880  268220  
    UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
  • Waardenburg syndrome 1 (WS1) [MIM:193500]: WS1 is an autosomal dominant disorder characterized by
    non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair,
    heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of
    the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected
    individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most
    consistent sign and is found in 98% of the patients. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Waardenburg syndrome 3 (WS3) [MIM:148820]: WS3 is an autosomal dominant disorder characterized by
    sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the
    musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: Thought to be an autosomal dominant disease
    which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin
    nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and
    profound sensory-neural deafness. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of rhabdomyosarcoma, a highly malignant tumor of striated
    muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines.
    Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It
    occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=The gene
    represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found
    in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional
    activator
  • Note=A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation
    t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the
    C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most
    common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children

  • Selected diseases for PAX3 (see all 53):    
    About MalaCards
    alveolar rhabdomyosarcoma    waardenburg syndrome type i    craniofacial deafness hand syndrome    waardenburg's syndrome
    chromosome 13q deletion    white forelock with malformations    waardenburg syndrome type 3    rhabdomyosarcoma 2, alveolar
    myelomeningocele    waardenburg syndrome type 2    rhabdomyosarcoma    small cell sarcoma
    wound botulism    embryonal rhabdomyosarcoma    botulism    aniridia
    botryoid rhabdomyosarcoma    piebaldism    septo-optic dysplasia    pendred syndrome

    7 diseases from the University of Copenhagen DISEASES database for PAX3:
    Waardenburg's syndrome     Rhabdomyosarcoma     Sensorineural hearing loss     Congenital diaphragmatic hernia
    Spina bifida     Sarcoma     Piebaldism

    PAX3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PAX3 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    waardenburgs syndrome 97.1 59 7897628 (2), 9302254 (2), 10982026 (2), 10521655 (2) (see all 47)
    waardenburg syndrome, type i 94.8 14 10779847 (2), 8486353 (2), 8533800 (1), 17254487 (1) (see all 10)
    rhabdomyosarcoma alveolar 94.5 37 9973247 (2), 8098985 (2), 11171995 (2), 8275086 (1) (see all 30)
    craniofacial-deafness-hand syndrome 93.1 4 18627422 (1), 8664898 (1), 10521655 (1), 18553554 (1)
    klein-waardenburg syndrome 91.3 1 11683776 (1)
    muscle cancer 86.1 1 16140913 (1)
    rhabdomyosarcoma embryonal 80.5 8 19215790 (2), 10554014 (1), 19953635 (1), 12647804 (1) (see all 5)
    rhabdomyosarcoma 79.4 24 15602708 (4), 9546061 (2), 15688409 (2), 17350164 (2) (see all 14)
    musculoskeletal abnormalities 74.9 1 18553554 (1)
    piebaldism 66 1 11041370 (1)

    GeneTests: PAX3
    GeneReviews: PAX3
    Genetic Association Database (GAD): PAX3
    Human Genome Epidemiology (HuGE) Navigator: PAX3 (10 documents)

    Export disorders for PAX3 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

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    PubMed articles for PAX3 gene, integrated from 10 sources (see all 347):
    (articles sorted by number of sources associating them with PAX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. (PubMed id 1347149)1, 2, 3 Baldwin C.T.... Milunsky A. (Nature 1992)
    2. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. (PubMed id 8533800)1, 2, 9 Baldwin C.T.... Milunsky A. (Am. J. Med. Genet. 1995)
    3. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. (PubMed id 7825605)1, 2, 9 Lalwani A.K.... Wilcox E.R. (Am. J. Hum. Genet. 1995)
    4. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. (PubMed id 12949970)1, 2, 9 Wollnik B.... Yuksel-Apak M. (Am. J. Med. Genet. A 2003)
    5. The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx. (PubMed id 10393185)1, 2, 9 Hollenbach A.D.... Grosveld G. (EMBO J. 1999)
    6. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. (PubMed id 7981674)1, 2, 9 Tassabehji M.... Read A.P. (Hum. Mol. Genet. 1994)
    7. Structural basis for DNA recognition by the human PAX3 homeodomain. (PubMed id 19199574)1, 2, 9 Birrane G.... Ladias J.A. (Biochemistry 2009)
    8. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. (PubMed id 9541113)1, 2, 9 Carey M.L.... Innis J.W. (J. Med. Genet. 1998)
    9. Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues. (PubMed id 7545913)1, 2, 9 Tsukamoto K.... Niikawa N. (Hum. Genet. 1994)
    10. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. (PubMed id 8490648)1, 2, 9 Tassabehji M....Strachan T. (Nat. Genet. 1993)

    (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)
    About This Section

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    Entrez Gene: 5077 HGNC: 8617 AceView: PAX3 Ensembl:ENSG00000135903 euGenes: HUgn5077
    ECgene: PAX3 Kegg: 5077 H-InvDB: PAX3

    (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 PAX3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PAX3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PAX3 gene:
    Search GeneIP for patents involving PAX3

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



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