ENSG00000009709


Homo sapiens

Features
Gene ID: ENSG00000009709
  
Biological name :PAX7
  
Synonyms : P23759 / paired box 7 / PAX7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.13
Gene start: 18631006
Gene end: 18748866
  
Corresponding Affymetrix probe sets: 1556638_at (Human Genome U133 Plus 2.0 Array)   208060_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364524
Ensembl peptide - ENSP00000383502
Ensembl peptide - ENSP00000403389
NCBI entrez gene - 5081     See in Manteia.
OMIM - 167410
RefSeq - NM_002584
RefSeq - NM_001135254
RefSeq - NM_013945
RefSeq Peptide - NP_001128726
RefSeq Peptide - NP_002575
RefSeq Peptide - NP_039236
swissprot - P23759
Ensembl - ENSG00000009709
  
Related genetic diseases (OMIM): 268220 - Rhabdomyosarcoma 2, alveolar, 268220

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pax7aENSDARG00000100398Danio rerio
 pax7bENSDARG00000070818Danio rerio
 PAX7ENSGALG00000043204Gallus gallus
 Pax7ENSMUSG00000028736Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PAX3 / P23760 / paired box 3ENSG0000013590372
PAX6 / P26367 / paired box 6ENSG0000000737232
PAX5 / Q02548 / paired box 5ENSG0000019609229
PAX8 / Q06710 / paired box 8ENSG0000012561828
PAX2 / Q02962 / paired box 2ENSG0000007589127
PAX1 / P15863 / paired box 1ENSG0000012581326
PAX9 / P55771 / paired box 9ENSG0000019880723
PAX4 / O43316 / paired box 4ENSG0000010633123


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR001523  Paired domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR022106  Paired box protein 7, C-terminal
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006338 chromatin remodeling IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0009653 anatomical structure morphogenesis TAS
 biological_processGO:0010453 regulation of cell fate commitment IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0014813 skeletal muscle satellite cell commitment IEA
 biological_processGO:0021527 spinal cord association neuron differentiation IEA
 biological_processGO:0021904 dorsal/ventral neural tube patterning IEA
 biological_processGO:0031062 positive regulation of histone methylation IEA
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0043393 regulation of protein binding IEA
 biological_processGO:0043403 skeletal muscle tissue regeneration IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048663 neuron fate commitment IEA
 biological_processGO:0048706 embryonic skeletal system development IEA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0060415 muscle tissue morphogenesis IEA
 biological_processGO:2000288 positive regulation of myoblast proliferation IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0006779 Alveolar rhabdomyosarcoma 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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