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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 Box Protein Pax-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 Embryonal Rhabdomyosarcoma. Among its related pathways are miRs in Muscle Cell Differentiation and Transcriptional misregulation in cancer. 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 PAX3.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G018802 1.2 ENCODE dbSUPER 10.5 +174.7 174702 5.8 HDGF PKNOX1 ATF1 ARNT NCOA1 ZNF592 CREB3 SMARCA4 PBX2 NBN TAS1R2 PAX7 GC01M018795
GH01G018598 0.9 ENCODE 11.8 -31.7 -31650 1.3 HDGF ZNF493 GLI4 YBX1 RAD21 ZNF366 ZNF354C EGR2 YY2 ZBTB11 EMC1 PAX7 ENSG00000225478
GH01G018651 0.9 Ensembl ENCODE 11.7 +20.9 20907 1.1 CBX2 NR3C1 ZNF7 HDAC2 CTBP2 KDM1A EZH2 SPI1 PAX7 GC01M018622 GC01M018692
GH01G018798 0.9 ENCODE dbSUPER 10.5 +168.6 168595 2.9 NR2F1 ETV1 ZIC2 TCF12 NFIC JUND ATF3 ZBTB48 RBAK GLIS1 PAX7 MRTO4 GC01M018795 TAS1R2
GH01G018666 0.7 ENCODE 11.7 +35.7 35741 1.0 PKNOX1 MAFG CHD7 GABPA ARID1B FOSL1 GATA2 IKZF1 PBX2 NFE2 PAX7 GC01M018622 GC01M018692
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAX7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAX7 Gene

Chromosome:
1
Start:
18,631,006 bp from pter
End:
18,748,866 bp from pter
Size:
117,861 bases
Orientation:
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:
    P23759-PAX7_HUMAN
    Recommended name:
    Paired box protein Pax-7
    Protein Accession:
    P23759
    Secondary Accessions:
    • E9PFV9
    • Q0VA99
    • Q2PJS5

    Protein attributes for PAX7 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX7 Gene

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

P23759

UniProtKB/Swiss-Prot:

PAX7_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • 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:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9339373
GO:0043565 sequence-specific DNA 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAX7

Flow Cytometry Products

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAX7 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PAX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PAX7: view

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

Activates:
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:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAX7

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PAX7 Gene

GeneLoc Exon Structure for
PAX7
ECgene alternative splicing isoforms for
PAX7

Expression for PAX7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of PAX7 Gene:

PAX7

SOURCE GeneReport for Unigene cluster for PAX7 Gene:

Hs.113253

Evidence on tissue expression from TISSUES for PAX7 Gene

  • Muscle(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX7 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • respiratory
Organs:
Thorax:
  • lung
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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia PAX7 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia PAX7 34 35
  • 93.07 (n)
cow
(Bos Taurus)
Mammalia PAX7 34 35
  • 92.74 (n)
mouse
(Mus musculus)
Mammalia Pax7 34 16 35
  • 89.79 (n)
rat
(Rattus norvegicus)
Mammalia Pax7 34
  • 88.93 (n)
oppossum
(Monodelphis domestica)
Mammalia PAX7 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAX-7 35
  • 90 (a)
OneToOne
PAX7 34
  • 85.06 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496502 34
  • 79.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12816 34
zebrafish
(Danio rerio)
Actinopterygii pax7b 35
  • 80 (a)
OneToMany
pax7a 34 35
  • 77.67 (n)
PAX7 (3 of 3) 35
  • 76 (a)
OneToMany
pax7 34
fruit fly
(Drosophila melanogaster)
Insecta prd 36 35
  • 68 (a)
Poxn 36
  • 67 (a)
gsb 36 35
  • 56 (a)
gsb-n 36 35
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea K07C11.1 36
  • 60 (a)
pax-3 35
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for PAX7 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for PAX7 (if available)
TreeFam:
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
rs1000023777 -- 18,688,172(+) ACTAA(G/T)TCAAG intron-variant
rs1000032874 -- 18,630,476(+) TCCCA(C/T)ACAGC upstream-variant-2KB
rs1000051670 -- 18,635,424(+) ATGGA(A/G)TAAGA intron-variant
rs1000054966 -- 18,687,797(+) GACAA(A/G)AGAGA intron-variant
rs1000073908 -- 18,651,219(+) ATGAG(A/G)TGAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv1070523 CNV insertion 17803354
esv2599950 CNV deletion 19546169
esv3417922 CNV insertion 20981092
esv3576471 CNV gain 25503493
nsv1006958 CNV gain 25217958
nsv1008797 CNV gain 25217958
nsv4965 CNV insertion 18451855
nsv506920 OTHER sequence alteration 20534489
nsv5076 CNV deletion 18451855

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)
PAX7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX7

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

Disorders for PAX7 Gene

MalaCards: The human disease database

(9) 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
rhabdomyosarcoma
pleomorphic rhabdomyosarcoma
  • anaplastic rhabdomyosarcoma
central nervous system mesenchymal non-meningothelial tumor
  • non-meningothelial mesenchymal tumor
- elite association - COSMIC cancer census association via MalaCards
Search PAX7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX7_HUMAN
  • 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)
PAX7
Human Genome Epidemiology (HuGE) Navigator
PAX7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAX7
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 22 46 64
  2. The genomic organization and the full coding region of the human PAX7 gene. (PMID: 9339373) Vorobyov E. … Horst J. (Genomics 1997) 3 4 22 64
  3. Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes. (PMID: 7527137) Schaefer B.W. … Busslinger M. (Nucleic Acids Res. 1994) 3 4 22 64
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64

Products for PAX7 Gene

  • Addgene plasmids for PAX7

Sources for PAX7 Gene

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