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

PAX7 Gene

protein-coding   GIFtS: 63
GCID: GC01P018957

paired box 7

(Previous name: paired box gene 7 )
 Explore 19 diseases affiliated with
PAX7 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PAX7    

Aliases
for PAX7 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 71 2     Paired Box Homeotic Gene 72
HUP12 3     Paired Box Protein Pax-72
RMS22 5     Paired Domain Gene 72
Hup11     PAX7 Transcriptional Factor2
Paired Box Gene 71     HuP13
PAX7B2     

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


Summaries
for PAX7 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 PAX7:
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)

UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
Function: Probable transcription factor. May have a role in myogenesis

Gene Wiki entry for PAX7


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences 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 plasmid: PAX7 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAX7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PAX7 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: 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 DAXX
Subcellular location: Nucleus
Secondary accessions: Q0VA99
Alternative splicing: 2 isoforms:  P23759-1   P23759-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23759

    • PAX7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000364524   ENSP00000403389   ENSP00000383502  

    Human Recombinant Protein Products: 
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    Novus Biologicals PAX7 Proteins
    Novus Biologicals PAX7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PAX7

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

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


    PAX7 for ontologies           About GeneDecksing



    PAX7 Antibody Products: 
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    Uscn ELISAs and CLIAs for PAX7

    Protein Domains /
    Families
    for PAX7 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PAX7 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 P23759

    ProtoNet protein and cluster: P23759

    1 Blocks protein family: 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


    Function
    for PAX7 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: PAX7_HUMAN, P23759
    Function: Probable transcription factor. May have a role in myogenesis

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX7
    8/64 QIAGEN miScript miRNA 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:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX7 (see all 4)
    OriGene shRNA RFP: PAX7
    OriGene siRNA: PAX7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX7

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

    Clone
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    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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    Search LifeMap BioReagents cell lines for PAX7

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX7

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--


    PAX7 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for PAX7: Pax7tm1Pgr Pax7tm1.2Fan
         15/17 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Pax7) (see all 17):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  immune system  mortality/aging  muscle 
     nervous system  no phenotypic analysis  normal  respiratory system  skeleton 

    PAX7 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PAX7 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
    1Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    2miRs in Muscle Cell Differentiation
    		miRs in Muscle Cell Differentiation1.00


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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for PAX7 (P237592, 3 ENSP000003645244) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007275multicellular organismal development ----
    GO:0007519skeletal muscle tissue development ----
    GO:0009653anatomical structure morphogenesis TAS9339373


    PAX7 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PAX7 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

    PAX7 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PAX7
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PAX7 

    Transcripts
    for PAX7 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 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX7
    8/64 QIAGEN miScript miRNA 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:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX7 (see all 4)
    OriGene shRNA RFP: PAX7
    OriGene siRNA: PAX7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX7
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAX7 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PAX7 (see all 3)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PAX7
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PAX7
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAX7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX7

    Additional cDNA 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:

    Z35141 X96743 NM_002584 NM_013945 

    GeneLoc Exon Structure


    Expression
    for PAX7 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

    PAX7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGAAGTGAG

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

    PAX7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/82 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 82) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Muscle Satellite PoolForelimb Muscle Satellite CellsSkeletal Muscle
    LimbHindlimb Muscle Satellite PoolHindlimb Muscle Satellite CellsSkeletal Muscle
    Skeletal MuscleCervical Muscle Satellite PoolMuscle Satellite CellsSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMuscle satellite CellsSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleHyoid Arch MusclesMuscle Satellite CellsSkeletal Muscle
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleLumbar Muscle Satellite PoolMuscle Satellite CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Satellite CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    Fetal spinal cord stem cells (NSI-566) (Fetal Stem / Progenitor Cell)Spinal Cord
    GABA neuron-like cells (Generation of motor ...)Brain
    Mesoderm precursors (Generation of skelet...)
    PDGFRA and ECD positive cells (Generation of skelet...)
    Myotubes (Generation of skelet...)
    Mixed progenitor cells (Generation of skelet...)
    Expanded PAX7 cells (Generation of skelet...)
    Embryoid bodies (Generation of skelet...)
    Mesendoderm cells (Generation of skelet...)

    See PAX7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAX7

    SOURCE GeneReport for Unigene cluster: Hs.113253
        SABiosciences Expression via Pathway-Focused PCR Arrays including PAX7: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    QIAGEN 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
    for PAX7 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 PAX7 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 PAX71 paired box 7 85.06(n)
    96.41(a)    		   395942  NM_205065.1  NP_990396.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PAX26
    		 --
    		 16(a)
    		 possible ortholog
    		 GL343196.1(580-77712)
    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
    gsb-n1    		 periodic partitioning by pair rule gene DNA
    binding3
    gooseberry-neuro1    		 68(a)
    (best of 4)3
    60.6(n)1
    63.57(a)1    		   2 33C33
    380041  NM_079138.11  NP_523862.11 
    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
    for PAX7 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAX7 gene
    PAX12  PAX32  PAX52  PAX22  PAX82  PAX92  PAX62  PAX42  
    14 SIMAP similar genes for PAX7 using alignment to 2 protein entries:     PAX7_HUMAN (see all proteins):
    PAX7B    PAX3    PAX-3    PAX6    RAX2    PAX2
    PAX9    PAX5    DUX2    HOXA4    PRRX1    Pax9
    POU6F1    SHOX2

    PAX7 for paralogs           About GeneDecksing



    Genomic Variants
    for PAX7 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

    10/2262 NCBI SNPs in PAX7 are shown (see all 2262)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs788505541,2
    		--17202250(+) CCCTGG/TGGCCA 3 -- us2k12Minor allele frequency- T:0.10CSA WA 119
    rs19340561,2
    		C,F,H,--17202578(+) CACCAG/ACAAGG 3 -- us2k17Minor allele frequency- A:0.12NS EA WA 540
    rs793132691,2
    		--17202684(+) CACCAA/GCTCCC 3 -- us2k10--------
    rs7663261,2
    		F,A,--17202753(+) GACGGC/GGGCGG 3 -- us2k11Minor allele frequency- G:0.07NA 120
    rs7663271,2
    		C,F,A,H,--17202808(+) CCTGTC/GCCTAG 3 -- us2k123Minor allele frequency- N:0.00NS EA NA WA CSA 1214
    rs726487871,2
    		--17203318(+) GAGGGA/GAAAAA 3 -- us2k10--------
    rs115811421,2
    		C,H,--17203487(+) CTTTTG/CCACAA 3 -- us2k14Minor allele frequency- C:0.25NA CSA WA 122
    rs22556401,2
    		C,F,A,H,--17203684(+) AGAAGG/ACNNNN 3 -- ut51 trp317Minor allele frequency- A:0.06EA NS NA WA 3304
    rs1127375171,2
    		--17204435(+) GTCCGC/TTTCTG 3 -- int12Minor allele frequency- T:0.03CSA WA 120
    rs96619401,2
    		C,F,A,H,--17204551(+) GTCCTG/AGTGAA 3 -- int115Minor allele frequency- A:0.13NA NS EA WA 1486

    HapMap Linkage Disequilibrium report for PAX7 (18957500 - 19075360 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PAX7: --
    Human Gene Mutation Database (HGMD): PAX7

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PAX7

    Disorders / Diseases
    for PAX7 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
    PAX7 for disorders           About GeneDecksing

    OMIM gene information: 167410   
    OMIM disorders: 268220  
    UniProtKB/Swiss-Prot: PAX7_HUMAN, P23759
  • Defects in PAX7 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 PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1.
    The resulting protein is a transcriptional activator

    19 diseases for PAX7:    About MalaCards
    alveolar rhabdomyosarcoma    rhabdomyosarcoma    desmoplastic small round cell tumor    rhabdomyosarcoma 2, alveolar
    neural tube defect    botryoid rhabdomyosarcoma    soft tissue sarcoma    spina bifida
    pleomorphic rhabdomyosarcoma    cutaneous malignant melanoma    embryonal rhabdomyosarcoma    neuroectodermal tumors
    chordoma    myopathy    sarcoma    melanoma
    lung carcinoma    carcinoma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for PAX7:
    Rhabdomyosarcoma

    9 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PAX7 (4 documents)

    Export disorders for PAX7 gene to outside databases

    Publications
    for PAX7 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 PAX7 gene, integrated from 9 sources (see all 130):
    (articles sorted by number of sources associating them with PAX7)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The genomic organization and the full coding region of the human PAX7 gene. (PubMed id 9339373)1, 2, 9 Vorobyov E....Horst J. (1997)
    2. 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. (1994)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. (PubMed id 7981748)1, 3 Stapleton P.... Busslinger M. (1993)
    5. Mapping of the human homologs of the murine paired-box-containing genes. (PubMed id 8431641)1, 3 Pilz A.J....Abbott C.M. (1993)
    6. Conservation of the paired domain in metazoans and its structure in three isolated human genes. (PubMed id 2501086)1, 2 Burri M.... Noll M. (1989)
    7. Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing. (PubMed id 15527970)1, 9 Vorobyov E. and Horst J. (2004)
    8. Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma. (PubMed id 15688409)1, 9 Du S....Barr F.G. (2005)
    9. Pax7 activates myogenic genes by recruitment of a histone methyltransferase complex. (PubMed id 18066051)1, 9 McKinnell I.W....Rudnicki M.A. (2008)
    10. PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells. (PubMed id 12865925)1, 9 Tiffin N....Pritchard-Jones K. (2003)

    External Searches for PAX7 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 PAX7 gene

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

    Other Databases showing PAX7 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PAX7 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 PAX7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX7 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for PAX7 gene

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