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Aliases for PAX7 Gene

Aliases for PAX7 Gene

  • Paired Box 7 2 3 5
  • HUP1 3 4
  • PAX7 Transcriptional Factor 3
  • Paired Box Homeotic Gene 7 3
  • Paired Domain Gene 7 3
  • Paired Box Gene 7 2
  • PAX7B 3
  • RMS2 3

External Ids for PAX7 Gene

Previous GeneCards Identifiers for PAX7 Gene

  • GC01P018624
  • GC01P018000
  • GC01P018390
  • GC01P018702
  • GC01P018830
  • GC01P018957
  • GC01P017203

Summaries for PAX7 Gene

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 Rhabdomyosarcoma 2, Alveolar and Rhabdomyosarcoma. Among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and miRs in Muscle Cell Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor activity, RNA polymerase II core promoter sequence-specific. An important paralog of this gene is PAX4.

UniProtKB/Swiss-Prot for PAX7 Gene

  • Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation.

Gene Wiki entry for PAX7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX7 Gene

Genomics for PAX7 Gene

Regulatory Elements for PAX7 Gene

Enhancers for PAX7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PAX7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAX7 Gene

18,631,006 bp from pter
18,748,866 bp from pter
117,861 bases
Plus strand

Genomic View for PAX7 Gene

Genes around PAX7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX7 Gene

Proteins for PAX7 Gene

  • Protein details for PAX7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Paired box protein Pax-7
    Protein Accession:
    Secondary Accessions:
    • E9PFV9
    • Q0VA99
    • Q2PJS5

    Protein attributes for PAX7 Gene

    505 amino acids
    Molecular mass:
    55119 Da
    Quaternary structure:
    • 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 (PubMed:10393185).

    Alternative splice isoforms for PAX7 Gene


neXtProt entry for PAX7 Gene

Proteomics data for PAX7 Gene at MOPED

Post-translational modifications for PAX7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAX7 Gene

No data available for DME Specific Peptides for PAX7 Gene

Domains & Families for PAX7 Gene

Suggested Antigen Peptide Sequences for PAX7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 paired domain.
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PAX7: view

Function for PAX7 Gene

Molecular function for PAX7 Gene

GENATLAS Biochemistry:
paired box (DNA binding) containing protein 7 (HuP1),with homeo domain,expressed in normal and neoplastic myocytes
UniProtKB/Swiss-Prot Function:
Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation.

Gene Ontology (GO) - Molecular Function for PAX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PAX7: view
genes like me logo Genes that share phenotypes with PAX7: view

Human Phenotype Ontology for PAX7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX7 Gene

MGI Knock Outs for PAX7:

Animal Model Products

Targeted motifs for PAX7 Gene
HOMER Transcription Factor Regulatory Elements motif PAX7
  • Consensus sequence: TAATCAATTA Submotif: canonical Cell Type: Myoblast GEO ID: GSE25064

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PAX7 Gene

Localization for PAX7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX7 Gene

Subcellular locations from

Jensen Localization Image for PAX7 Gene COMPARTMENTS Subcellular localization image for PAX7 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PAX7 Gene

Pathways & Interactions for PAX7 Gene

genes like me logo Genes that share pathways with PAX7: view

Pathways by source for PAX7 Gene

SIGNOR curated interactions for PAX7 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PAX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007519 skeletal muscle tissue development IEA --
GO:0009653 anatomical structure morphogenesis TAS 9339373
GO:0010453 regulation of cell fate commitment IEA --
genes like me logo Genes that share ontologies with PAX7: view

Drugs & Compounds for PAX7 Gene

(1) Additional Compounds for PAX7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAX7: view

Transcripts for PAX7 Gene

mRNA/cDNA for PAX7 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PAX7 Gene

Paired box 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PAX7 Gene

No ASD Table

Relevant External Links for PAX7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PAX7 Gene

mRNA expression in normal human tissues for PAX7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX7 Gene

This gene is overexpressed in Muscle - Skeletal (x12.4), Brain - Frontal Cortex (BA9) (x8.0), Brain - Cortex (x7.2), Brain - Substantia nigra (x7.0), and Brain - Anterior cingulate cortex (BA24) (x4.1).

SOURCE GeneReport for Unigene cluster for PAX7 Gene Hs.113253

genes like me logo Genes that share expression patterns with PAX7: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PAX7 Gene

Orthologs for PAX7 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX7 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PAX7 35
  • 92.74 (n)
  • 98.61 (a)
PAX7 36
  • 92 (a)
(Canis familiaris)
Mammalia PAX7 35
  • 93.07 (n)
  • 98.6 (a)
PAX7 36
  • 91 (a)
(Mus musculus)
Mammalia Pax7 35
  • 89.79 (n)
  • 97.61 (a)
Pax7 16
Pax7 36
  • 91 (a)
(Pan troglodytes)
Mammalia PAX7 35
  • 99.47 (n)
  • 100 (a)
PAX7 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Pax7 35
  • 88.93 (n)
  • 97.02 (a)
(Monodelphis domestica)
Mammalia PAX7 36
  • 78 (a)
(Gallus gallus)
Aves PAX7 35
  • 85.06 (n)
  • 96.41 (a)
PAX-7 36
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496502 35
  • 79.6 (n)
  • 88.16 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12816 35
(Danio rerio)
Actinopterygii pax7 35
pax7a 35
  • 77.67 (n)
  • 89.2 (a)
PAX7 (3 of 3) 36
  • 76 (a)
pax7a 36
  • 89 (a)
pax7b 36
  • 80 (a)
fruit fly
(Drosophila melanogaster)
Insecta gsb 37
  • 56 (a)
gsb-n 37
  • 55 (a)
Poxn 37
  • 67 (a)
prd 37
  • 68 (a)
gsb 36
  • 45 (a)
gsb-n 36
  • 44 (a)
prd 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea K07C11.1 37
  • 60 (a)
pax-3 36
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
Species with no ortholog for PAX7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX7 Gene

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

Paralogs for PAX7 Gene

Paralogs for PAX7 Gene

(5) SIMAP similar genes for PAX7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PAX7: view

Variants for PAX7 Gene

Sequence variations from dbSNP and Humsavar for PAX7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs84353 -- 18,730,986(-) TGTCC(A/G)TCAGG intron-variant
rs480856 -- 18,691,088(-) AGGTG(A/G)GAGAA intron-variant
rs485874 -- 18,746,432(+) CCCTC(A/G)ATTCC utr-variant-3-prime
rs501080 -- 18,708,899(-) TGTCT(C/T)CCCCA intron-variant
rs545044 -- 18,706,783(-) AATTC(C/T)ggcca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAX7 Gene

Variant ID Type Subtype PubMed ID
nsv871296 CNV Gain 21882294
nsv4965 CNV Insertion 18451855
nsv5076 CNV Loss 18451855
nsv506920 CNV Insertion 20534489
nsv870794 CNV Gain 21882294
esv2599950 CNV Deletion 19546169
esv1070523 CNV Insertion 17803354

Variation tolerance for PAX7 Gene

Residual Variation Intolerance Score: 30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAX7 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX7 Gene

Disorders for PAX7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PAX7 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rhabdomyosarcoma 2, alveolar
  • rhabdomyosarcoma, alveolar
embryonal rhabdomyosarcoma
  • botryoid rhabdomyosarcoma
pleomorphic rhabdomyosarcoma
  • anaplastic rhabdomyosarcoma
muscle cancer
  • malignant neoplasm of muscle, nos
- elite association - COSMIC cancer census association via MalaCards
Search PAX7 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:8187070}. 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. {ECO:0000269 PubMed:8187070}.

Relevant External Links for PAX7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PAX7: view

No data available for Genatlas for PAX7 Gene

Publications for PAX7 Gene

  1. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. (PMID: 19142206) Sull J.W. … Beaty T.H. (Eur. J. Hum. Genet. 2009) 3 23 48 67
  2. Pax7 activates myogenic genes by recruitment of a histone methyltransferase complex. (PMID: 18066051) McKinnell I.W. … Rudnicki M.A. (Nat. Cell Biol. 2008) 3 23
  3. Comparison of the proximal promoter regions of the PAX3 and PAX7 genes. (PMID: 17954266) MAPller E. … Panagopoulos I. (Cancer Genet. Cytogenet. 2007) 3 23
  4. Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma. (PMID: 15688409) Du S. … Barr F.G. (Int. J. Cancer 2005) 3 23
  5. Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. (PMID: 15184910) Tomescu O. … Barr F.G. (Lab. Invest. 2004) 3 23

Products for PAX7 Gene

Sources for PAX7 Gene