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

PAX3 Gene

protein-coding   GIFtS: 67
GCID: GC02M223064

paired box 3

(Previous names: Waardenburg syndrome 1, paired box gene 3 (Waardenburg...)
(Previous symbol: WS1)
 Explore 49 diseases affiliated with
PAX3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PAX3    

Aliases
for PAX3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Paired Box 31 2     Waardenburg Syndrome 11
HUP21 2 3 5     Paired Box Homeotic Gene 32
WS11 2 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


Summaries
for PAX3 gene

(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 PAX3:
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)

UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
Function: Probable transcription factor associated with development of alveolar rhabdomyosarcoma

Gene Wiki entry for PAX3


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAX3 gene promoter:
         AP-2alpha isoform 2   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PAX3 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PAX3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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 DAXX
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23760

    • PAX3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000375922   ENSP00000338767  
     ENSP00000386750   ENSP00000450926   ENSP00000452282   ENSP00000386817   ENSP00000258387  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 7): PAX3
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    Novus Biologicals PAX3 Proteins
    Novus Biologicals PAX3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PAX3

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

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


    PAX3 for ontologies           About GeneDecksing



    PAX3 Antibody Products: 
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    Uscn Antibodies for PAX3
    ThermoFisher Antibodies for PAX3

    Assay Products for PAX3: 
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    GenScript Custom Assay Services for PAX3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PAX3

    Protein Domains /
    Families
    for PAX3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PAX3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001523 Paired_dom
     IPR022106 Pax7
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain

    Graphical View of Domain Structure for InterPro Entry P23760

    ProtoNet protein and cluster: P23760

    1 Blocks protein family: 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


    Function
    for PAX3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
    Function: Probable transcription factor associated with development of alveolar rhabdomyosarcoma

         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

    miRNA
    Products:            		miRTarBase miRNAs that target PAX3:
    hsa-mir-206 (MIRT004671), hsa-mir-1 (MIRT004670)

    OriGene 3'-UTR Clone (see all 8): PAX3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX3
    8/37 QIAGEN miScript miRNA 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 plasmid: PAX3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX3 (see all 4)
    OriGene shRNA RFP: PAX3
    OriGene siRNA: PAX3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX3

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAX3 (see all 10)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PAX3 (see all 8)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX3 

    Cell Line
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    Search LifeMap BioReagents cell lines for PAX3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX3

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity ----
    GO:0005515protein binding IPI11029584
    GO:0043565sequence-specific DNA binding IDA11863357


    PAX3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Pax3tm1.2Sjc for PAX3
         15/25 MGI mutant phenotypes (inferred from 31 alleles) (MGI details for Pax3) (see all 25):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 

    PAX3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PAX3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TGF-beta/Smad Signaling
    		TGF-beta/Smad Signaling1.00
    2Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    3Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    4Melanocyte Development and Pigmentation
    		Melanocyte Development and Pigmentation1.00
    5Regulation of retinoblastoma protein
    		Regulation of retinoblastoma protein1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PAX3
        Transcription factors in neurogenesis

    1 Downloadable PowerPoint Slide of QIAGEN 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



    PAX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX3

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

    5/35 Interacting proteins for PAX3 (P237601, 2, 3 ENSP000003759214) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEOX2P502222, 3, ENSP000002620414MINT-15278 MINT-15279 I2D: score=5 STRING: ENSP00000262041
    SOX10P566931, 3, ENSP000003541304EBI-1167564,EBI-1167533 I2D: score=3 STRING: ENSP00000354130
    DAXXQ9UER73, ENSP000003968764I2D: score=1 STRING: ENSP00000396876 STRING: ENSP00000266000
    POU3F2P202651, 3, ENSP000003291704EBI-1167564,EBI-1167176 I2D: score=2 STRING: ENSP00000329170
    MSX1P283603, ENSP000003721704I2D: score=2 STRING: ENSP00000372170
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

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


    PAX3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PAX3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PAX3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PAX3
    6 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PAX3 

    Transcripts
    for PAX3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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 ENST00000392070(uc010fwo.3) ENST00000336840(uc002vmz.2)
    ENST00000409551 ENST00000464706 ENST00000555548 ENST00000409828(uc002vna.2)
    ENST00000258387

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX3
    8/37 QIAGEN miScript miRNA 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 plasmid: PAX3 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): PAX3 (NM_181457)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX3

    Additional cDNA 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 

    24/56 AceView cDNA sequences (see all 56):

    NM_181457 NM_181458 AI379568 NM_181460 NM_181459 NM_181461 NM_000438 AI382891 
    BX108282 AI082656 N71677 NM_013942 N27673 CA389778 N42824 S69369 
    N37012 AI804068 N42304 AI263907 AY251280 H97691 AA258758 N42834 

    GeneLoc Exon Structure


    Expression
    for PAX3 gene

    (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

    PAX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAAAGTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PAX3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/106 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 106) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1MelanocytesMelanocytes
    Head MesenchymeBranchial Arch 2MelanocytesMelanocytes
    Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest CellsNeural Crest
    Head MesenchymeBranchial Arch 3,4,6MelanocytesMelanocytes, Neural Crest
    Head MesenchymeHypobranchial MusclesMuscle Progenitor CellsSkeletal Muscle
    Head MesenchymeHypobranchial MusclesMyoblastsSkeletal Muscle
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeMelanocytesMelanocytes
    Head MesenchymePrechordal MesenchymeMesencephalic Neural Crest CellsNeural Crest
    LimbForelimb Dorsal MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Neural crest-like cells (Directed differentia...)
    Neurospheres (Generation of neuros...)
    Mesoderm precursors (Generation of skelet...)
    PDGFRA and ECD positive cells (Generation of skelet...)
    Embryoid bodies (Generation of skelet...)
    Skeletal myocytes (Generation of skelet...)

    See PAX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAX3

    SOURCE GeneReport for Unigene cluster: Hs.42146
        SABiosciences Expression via Pathway-Focused 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
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX3

    Orthologs
    for PAX3 gene

    (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 PAX3 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PAX31 paired box 3 85.54(n)
    96.69(a)    		   374127  NM_204269.1  NP_989600.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PAX36
    PAX26
    		 --
    		 96(a)
    15(a)
    		 1 ↔ 1
    possible ortholog
    		 3(25697633-25825544)
    GL343196.1(580-77712)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia 1377318862   -- 81.74(n)    137731886 
    zebrafish
    (Danio rerio)    		 Actinopterygii pax3a1 paired box gene 3a 71.63(n)
    79.79(a)    		   30532  NM_131277.1  NP_571352.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Poxn3
    prd1    		 antennal morphogenesis specific RNA
    polymerase more3
    paired1    		 67(a)3
    52.53(n)1
    52.88(a)1    		   52C73
    346291  NM_164990.21  NP_723721.11 
    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
    for PAX3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAX3 gene
    PAX72  PAX12  PAX52  PAX22  PAX82  PAX92  PAX62  PAX42  
    12 SIMAP similar genes for PAX3 using alignment to 3 protein entries:     PAX3_HUMAN (see all proteins):
    PAX-3    PAX7    PAX7B    PAX1    PAX6    PAX2
    PRRX1    PAX5    PAX9    Pax9    PAX8    POU6F1

    PAX3 for paralogs           About GeneDecksing



    Genomic Variants
    for PAX3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1719 NCBI SNPs in PAX3 are shown (see all 1719)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048936531,2
    		Cpathogenic221703607(-) TTATCA/CACGGC 16 N H mis10--------
    rs1048936521,2
    		Cpathogenic221703609(-) ATCAAC/GGGCAG 16 N K mis10--------
    rs1048936511,2
    		Cpathogenic221703719(-) CGTCTC/TCAAGA 16 S F mis10--------
    rs1048936541,2
    		Cpathogenic221703736(-) GCAGGC/TACCAG 16 H Y mis10--------
    rs455505331,2
    		C,F,--214918557(-) ACAACC/TCACAG 5 -- ds50016Minor allele frequency- T:0.03NS WA 304
    rs455943331,2
    		C--214918706(-) AGTTAT/GGAAAA 5 -- ut315Minor allele frequency- G:0.01NS 168
    rs456048421,2
    		C,F,--214918867(-) CTAGAC/TATAGT 5 -- ut319Minor allele frequency- T:0.12NS WA CSA 294
    rs455210411,2
    		C,--214919444(-) CCTGGG/CTTGGA 5 -- ut315Minor allele frequency- C:0.00NS 184
    rs456187401,2
    		C,--214919561(-) GGCCCG/AGACAT 5 -- ut316Minor allele frequency- A:0.02NS NA 302
    rs455699351,2
    		C,--214919643(-) GGAAGC/GTAGAC 5 -- ut315Minor allele frequency- G:0.00NS 186

    HapMap Linkage Disequilibrium report for PAX3 (223064606 - 223163715 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PAX3
         2 CNVs: 50404 4328
    Human Gene Mutation Database (HGMD): PAX3

    Locus Specific Mutation Databases (LSDB): PAX3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PAX3
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX3

    Disorders / Diseases
    for PAX3 gene

    (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.)
    About This Section
    PAX3 for disorders           About GeneDecksing

    OMIM gene information: 606597   
    OMIM disorders: 193500  148820  122880  268220  
    UniProtKB/Swiss-Prot: PAX3_HUMAN, P23760
  • Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an autosomal dominant
    • disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia
    canthorum), pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes,
    leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals
    do not manifest hearing impairment
  • Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:148820]; also known as
    • Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3
    is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionally
    present with musculoskeletal abnormalities
  • Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]. CDHS is 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
  • Defects in PAX3 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:268220]. It is a form of rhabdomyosarcoma,
    • a highly malignant tumor of striated muscle derived from primitive mesenchimal 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=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

    20/49 diseases for PAX3 (see all 49):    About MalaCards
    craniofacial-deafness-hand syndrome    waardenburg's syndrome    alveolar rhabdomyosarcoma    rhabdomyosarcoma
    neural tube defect    waardenburg syndrome type i    waardenburg syndrome type 3    white forelock with malformations
    craniofacial anomalies    rhabdomyosarcoma 2, alveolar    wound botulism    spina bifida
    waardenburg syndrome type 2    congenital diaphragmatic hernia    hearing loss    botryoid rhabdomyosarcoma
    sensorineural hearing loss    oculocutaneous albinism    piebaldism    myelomeningocele

    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

    10/33 Novoseek 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
    Waardenburg Syndrome Type I

    Human Genome Epidemiology (HuGE) Navigator: PAX3 (10 documents)

    Export disorders for PAX3 gene to outside databases

    Publications
    for PAX3 gene

    (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 PAX3 gene, integrated from 9 sources (see all 332):
    (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. (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. (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. (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. (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. (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. (1994)
    7. Structural basis for DNA recognition by the human PAX 3 homeodomain. (PubMed id 19199574)1, 2, 9 Birrane G....Ladias J.A. (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. (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. (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. (1993)

    External Searches for PAX3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PAX3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5077 HGNC: 8617 AceView: PAX3 Ensembl:ENSG00000135903 euGenes: HUgn5077
    ECgene: PAX3 H-InvDB: PAX3

    Other Databases showing PAX3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PAX3 gene

    (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 PAX3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX3

    Intellectual Property
    for PAX3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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