ENSG00000198807


Homo sapiens

Features
Gene ID: ENSG00000198807
  
Biological name :PAX9
  
Synonyms : P55771 / paired box 9 / PAX9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q13.3
Gene start: 36657568
Gene end: 36679715
  
Corresponding Affymetrix probe sets: 207059_at (Human Genome U133 Plus 2.0 Array)   231145_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000384817
Ensembl peptide - ENSP00000355245
Ensembl peptide - ENSP00000450434
NCBI entrez gene - 5083     See in Manteia.
OMIM - 167416
RefSeq - NM_006194
RefSeq Peptide - NP_006185
swissprot - Q2L4T1
swissprot - G3V233
swissprot - P55771
Ensembl - ENSG00000198807
  
Related genetic diseases (OMIM): 604625 - Tooth agenesis, selective, 3, 604625

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
 pax9ENSDARG00000053829Danio rerio
 PAX9ENSGALG00000010114Gallus gallus
 Pax9ENSMUSG00000001497Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PAX1 / P15863 / paired box 1ENSG0000012581364
PAX8 / Q06710 / paired box 8ENSG0000012561838
PAX3 / P23760 / paired box 3ENSG0000013590338
PAX2 / Q02962 / paired box 2ENSG0000007589137
PAX7 / P23759 / paired box 7ENSG0000000970936
PAX5 / Q02548 / paired box 5ENSG0000019609236
PAX6 / P26367 / paired box 6ENSG0000000737235
PAX4 / O43316 / paired box 4ENSG0000010633129


Protein motifs (from Interpro)
Interpro ID Name
 IPR001523  Paired domain
 IPR009057  Homeobox-like domain superfamily
 IPR033204  Paired box protein PAX9
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0009887 animal organ morphogenesis IEA
 biological_processGO:0042476 odontogenesis IEA
 biological_processGO:0042481 regulation of odontogenesis IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000677 Oligodontia "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators]
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 HP:0000691 Microdontia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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