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PAX7 Gene

protein-coding   GIFtS: 65
GCID: GC01P018957

Paired Box 7

(Previous name: paired box gene 7)
  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 71 2     Paired Box Homeotic Gene 72
HUP12 3     Paired Box Protein Pax-72
RMS22 5     Paired Domain Gene 72
Paired Box Gene 71     PAX7 Transcriptional Factor2
PAX7B2     HuP13

External Ids:    HGNC: 86211   Entrez Gene: 50812   Ensembl: ENSG000000097097   OMIM: 1674105   UniProtKB: P237593   

Export aliases for PAX7 gene to outside databases

Previous GC identifers: GC01P018624 GC01P018000 GC01P018390 GC01P018702 GC01P018830 GC01P017203


(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 PAX7 Gene:
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family
typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical
roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but
speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been
associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Sep 2008)

GeneCards Summary for PAX7 Gene:
PAX7 (paired box 7) is a protein-coding gene. Diseases associated with PAX7 include alveolar rhabdomyosarcoma, and rhabdomyosarcoma 2, alveolar. GO annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX1.

UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
Function: Transcription factor playing a role in myogenesis through regulation of muscle precursor cells
proliferation (By similarity)

Gene Wiki entry for PAX7 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAX7 gene promoter:
         AP-2alpha isoform 3   MyoD   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAX7 promoter sequence
   Search Chromatin IP Primers for PAX7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAX7


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

PAX7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P018957:  view genomic region     (about GC identifiers)

Start:
18,957,500 bp from pter      End:
19,075,360 bp from pter
Size:
117,861 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759 (See protein sequence)
Recommended Name: Paired box protein Pax-7  
Size: 520 amino acids; 56896 Da
Subunit: Can bind to DNA as a heterodimer with PAX3. Interacts with PAXBP1; the interaction links PAX7 to a
WDR5-containing histone methyltransferase complex (By similarity). Interacts with DAXX
Secondary accessions: E9PFV9 Q0VA99 Q2PJS5
Alternative splicing: 3 isoforms:  P23759-1   P23759-2   P23759-3   (Ref.2 (ABC48797) sequence is in conflict in position: 468:T->S)

Explore the universe of human proteins at neXtProt for PAX7: NX_P23759

Explore proteomics data for PAX7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001128726.1  NP_002575.1  NP_039236.1  

    ENSEMBL proteins: 
     ENSP00000364524   ENSP00000403389   ENSP00000383502  

    PAX7 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PAX7
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PAX7
    GenScript Custom Purified and Recombinant Proteins Services for PAX7
    Novus Biologicals PAX7 Proteins
    Novus Biologicals PAX7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX7

    PAX7 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAX7
    R&D Systems Antibodies for PAX7
    OriGene Antibodies for PAX7
    OriGene Custom Antibody Services for PAX7
    Novus Biologicals PAX7 Antibodies
    Abcam antibodies for PAX7
    Cloud-Clone Corp. Antibodies for PAX7
    ThermoFisher Antibodies for PAX7
    LSBio Antibodies in human, mouse, rat for PAX7

    PAX7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PAX7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PAX7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAX7
    Cloud-Clone Corp. CLIAs for PAX7


    (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 P23759

    ProtoNet protein and cluster: P23759

    1 Blocks protein domain: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 paired domain


    PAX7 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: PAX7_HUMAN, P23759
    Function: Transcription factor playing a role in myogenesis through regulation of muscle precursor cells
    proliferation (By similarity)

         Genatlas biochemistry entry for PAX7:
    paired box (DNA binding) containing protein 7 (HuP1),with homeo domain,expressed in normal and neoplastic myocytes

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000983RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9339373
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    PAX7 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PAX7:
     Elongated cells with protrusio  Increased HPV18 LCR reporter a 

         Selected MGI mutant phenotypes (inferred from 15 alleles(MGI details for Pax7) (see all 17):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  immune system  mortality/aging  muscle 
     nervous system  no phenotypic analysis  normal  respiratory system  skeleton 

    PAX7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PAX7: Pax7tm1Pgr Pax7tm1.2Fan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAX7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAX7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAX7

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PAX7:
    hsa-mir-27b-3p (MIRT023463)

    Block miRNA regulation of human, mouse, rat PAX7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX7 (see all 64):
    hsa-miR-15a hsa-miR-218-1* hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3916 hsa-miR-424 hsa-miR-133a hsa-miR-508-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAX7
    Predesigned siRNA for gene silencing in human, mouse, rat PAX7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAX7

    Clone
    Products:
         
    OriGene clones in human, mouse for PAX7 (see all 14)
    OriGene ORF clones in mouse, rat for PAX7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PAX7 (NM_001135254)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX7

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PAX7
    Browse ESI BIO Cell Lines and PureStem Progenitors for PAX7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX7


    (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
    PAX7_HUMAN, P23759: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    extracellular2
    plasma membrane1

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

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

    PAX7 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 PAX7 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2Neural Crest Differentiation
    Neural Crest Differentiation
    3miRs in Muscle Cell Differentiation
    miRs in Muscle Cell Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PAX7
        Neural Crest Differentiation
    miRs in Muscle Cell Differentiation


    1 Kegg Pathway  (Kegg details for PAX7):
        Transcriptional misregulation in cancer


    PAX7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX7: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAX7

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

    Selected Interacting proteins for PAX7 (P237592, 3 ENSP000003645244) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASH2LQ9UBL33, ENSP000003408964I2D: score=1 STRING: ENSP00000340896
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    WDR5P619643, ENSP000003514464I2D: score=1 STRING: ENSP00000351446
    HIRAP541983, ENSP000002632084I2D: score=3 STRING: ENSP00000263208
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338chromatin remodeling IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007519skeletal muscle tissue development ----
    GO:0009653anatomical structure morphogenesis TAS9339373
    GO:0010453regulation of cell fate commitment IEA--

    PAX7 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 PAX7

    1 Novoseek inferred chemical compound relationship for PAX7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 0 1 10063718 (1)



    PAX7 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PAX7 gene (3 alternative transcripts): 
    NM_001135254.1  NM_002584.2  NM_013945.2  

    Unigene Cluster for PAX7:

    Paired box 7
    Hs.113253  [show with all ESTs]
    Unigene Representative Sequence: NM_001135254
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375375(uc001bay.3 uc001baz.3) ENST00000420770(uc010oct.2)
    ENST00000400661
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PAX7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX7 (see all 64):
    hsa-miR-15a hsa-miR-218-1* hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3916 hsa-miR-424 hsa-miR-133a hsa-miR-508-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PAX7
    Predesigned siRNA for gene silencing in human, mouse, rat PAX7
    Clone
    Products:
         
    OriGene clones in human, mouse for PAX7 (see all 14)
    OriGene ORF clones in mouse, rat for PAX7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PAX7 (NM_001135254)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX7
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PAX7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX7
      QuantiTect SYBR Green Assays in human, mouse, rat PAX7
      QuantiFast Probe-based Assays in human, mouse, rat PAX7

    Additional mRNA sequence: 

    AK094779.1 AY578141.1 BC121165.2 BC121166.2 DQ322591.1 X96743.1 Z35141.1 

    3 DOTS entries:

    DT.107986  DT.75105313  DT.121400895 

    4 AceView cDNA sequences:

    X96743 NM_002584 Z35141 NM_013945 

    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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    PAX7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGAAGTGAG
    PAX7 Expression
    About this image


    PAX7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 69 entries
             Muscle Satellite Cells Hyoid Arch Muscles
             Myotubes
     
     Somite (Muscoskeletal System)    fully expand to see all 50 entries
             Myoblasts Cervical Hypaxial Myotome
             Embryoid bodies
     
     Neural Tube (Nervous System)    fully expand to see all 18 entries
             Oligodendrocyte Precursor Cells dP5 Neural Domain
             Telencephalon
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Oligodendrocyte Precursor Cells dP5 Neural Domain
             Hypothalamus
             GABA neuron-like cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Cervical Dermomyotome Cells Cervical Dermomyotome
    PAX7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113253
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX7: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX7
    QuantiTect SYBR Green Assays in human, mouse, rat PAX7
    QuantiFast Probe-based Assays in human, mouse, rat PAX7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX7

    (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 PAX7 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax71 , 5 paired box gene 75
    paired box 71
    89.79(n)1
    97.61(a)1
      4 (70.83 cM)5
    185091  NM_011039.21  NP_035169.11 
     1397370625 
    chicken
    (Gallus gallus)
    Aves PAX71 paired box 7 85.06(n)
    96.41(a)
      395942  NM_205065.1  NP_990396.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.128162 Xenopus laevis transcribed sequence with strong similarity more 81.25(n)    BJ071582.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pax72 paired box gene 7 77.62(n)   30587  AF014368.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta prd3 periodic partitioning by pair rule gene
    DNA binding
    68(a)
    (best of 4)
      2 33C3   --
    worm
    (Caenorhabditis elegans)
    Secernentea K07C11.13 DNA-binding transcription factor 60(a)   V(8227563-8228635)   --


    ENSEMBL Gene Tree for PAX7 (if available)
    TreeFam Gene Tree for PAX7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAX7 gene
    PAX12  PAX32  PAX52  PAX22  PAX82  PAX62  PAX92  PAX42  
    5 SIMAP similar genes for PAX7 using alignment to 1 protein entry:     PAX7_HUMAN:
    PAX3    PAX-3    PAX6    PAX2    PAX5

    PAX7 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 PAX7 (see all 2744)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842715361,2
    C--17219650(+) AAAACA/TGAACG 3 -- int10--------
    rs349263911,2
    C--17267755(+) AAAAA-/A/AA  
            
    GAAAA
    3 -- int10--------
    rs1492985961,2
    C--17279948(+) CTTTT-/TTTC  
            
    TTTCT
    3 -- int10--------
    rs579333531,2
    C--17289069(+) TGTTT-/GTTTGT 3 -- int10--------
    rs22368111,2
    C--17297857(-) TTGGTT/GGGGCG 3 -- int12Minor allele frequency- G:0.00NA 4
    rs1484412081,2
    C--17297857(+) GCCCC-/CAACCAA 3 -- int10--------
    rs710273941,2
    C--17301268(+) AAAAA-/A/AA  
            
    TTACC
    3 -- int11NA 2
    rs596045861,2
    C--18962315(+) TGTGT-/GT/TG 
            
    ACATG
    3 -- int10--------
    rs30797311,2
    C--18965889(+) TATTT-/T/TTT 
     T
    /TTTTT
    TTTTT
    3 -- int11CSA 2
    rs664737641,2
    C--18968715(+) TGGAG-/TTTCTA 3 -- int10--------

    HapMap Linkage Disequilibrium report for PAX7 (18957500 - 19075360 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PAX7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2599950CNV Deletion19546169
    esv1070523CNV Insertion17803354
    nsv506920CNV Insertion20534489
    nsv4965CNV Insertion18451855
    nsv5076CNV Loss18451855
    nsv870794CNV Gain21882294
    nsv871296CNV Gain21882294

    Human Gene Mutation Database (HGMD): PAX7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAX7
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 167410   
    OMIM disorders: 268220  
    UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
  • 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 PAX7 is found
    in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional
    activator

  • Selected diseases for PAX7 (see all 25):    
    About MalaCards
    alveolar rhabdomyosarcoma    rhabdomyosarcoma 2, alveolar    pleomorphic rhabdomyosarcoma    rhabdomyosarcoma
    embryonal rhabdomyosarcoma    botryoid rhabdomyosarcoma    desmoplastic small round cell tumor    chordoma
    cutaneous malignant melanoma    neural tube defects    spina bifida    cleft palate
    cleft lip    soft tissue sarcoma    narcolepsy    sarcoma
    melanoma    myopathy    parkinson's disease    cervicitis

    3 diseases from the University of Copenhagen DISEASES database for PAX7:
    Rhabdomyosarcoma     Sarcoma     Myopathy

    PAX7 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for PAX7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyosarcoma alveolar 88.8 13 9973247 (2), 10700864 (2), 8889501 (1), 17954266 (1) (see all 9)
    rhabdomyosarcoma embryonal 78.7 3 12865925 (1), 10554014 (1), 12647804 (1)
    rhabdomyosarcoma 71.9 9 15688409 (2), 16892556 (1), 9479491 (1), 10534762 (1) (see all 7)
    ewings sarcoma 23.9 2 10554014 (1), 16036108 (1)
    childhood cancer 21.4 1 10700864 (1)
    tumors 19.1 17 15688409 (2), 10554014 (2), 10839462 (2), 16036108 (2) (see all 10)
    primary tumor 7.19 1 16892556 (1)
    melanoma 4.8 4 10554014 (1), 16036108 (1), 12647804 (1), 19441164 (1)
    cancer 0 2 9973247 (1), 9570138 (1)

    Genetic Association Database (GAD): PAX7
    Human Genome Epidemiology (HuGE) Navigator: PAX7 (4 documents)

    Export disorders for PAX7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PAX7 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with PAX7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. (PubMed id 19142206)1, 4, 9 Sull J.W....Beaty T.H. (Eur. J. Hum. Genet. 2009)
    2. The genomic organization and the full coding region of the human PAX7 gene. (PubMed id 9339373)1, 2, 9 Vorobyov E....Horst J. (Genomics 1997)
    3. Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes. (PubMed id 7527137)1, 2, 9 Schaefer B.W.... Busslinger M. (Nucleic Acids Res. 1994)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    6. Getting the proto-Pax by the tail. (PubMed id 16830101)1, 2 Vorobyov E. and Horst J. (J. Mol. Evol. 2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. (PubMed id 7981748)1, 3 Stapleton P.... Busslinger M. (Nat. Genet. 1993)
    9. Mapping of the human homologs of the murine paired-box-containing genes. (PubMed id 8431641)1, 3 Pilz A.J....Abbott C.M. (Mamm. Genome 1993)
    10. Conservation of the paired domain in metazoans and its structure in three isolated human genes. (PubMed id 2501086)1, 2 Burri M.... Noll M. (EMBO J. 1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5081 HGNC: 8621 AceView: PAX7 Ensembl:ENSG00000009709 euGenes: HUgn5081
    ECgene: PAX7 Kegg: 5081 H-InvDB: PAX7

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PAX7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX7 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

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    Patent Information for PAX7 gene:
    Search GeneIP for patents involving PAX7

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



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