PAX9

Protein identityUniProt · HPA

UniProt accession

P55771

Gene

PAX9

Ensembl

ENSG00000198807

Chromosome

14

Canonical length

341 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nucleoli

OverviewNCBI 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. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]

Canonical amino-acid sequenceUniProt

341 residues, UniProt reviewed canonical sequence.

>P55771|PAX9
     1  MEPAFGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY
    61  NETGSILPGA IGGSKPRVTT PTVVKHIRTY KQRDPGIFAW EIRDRLLADG VCDKYNVPSV
   121  SSISRILRNK IGNLAQQGHY DSYKQHQPTP QPALPYNHIY SYPSPITAAA AKVPTPPGVP
   181  AIPGSVAMPR TWPSSHSVTD ILGIRSITDQ VSDSSPYHSP KVEEWSSLGR NNFPAAAPHA
   241  VNGLEKGALE QEAKYGQAPN GLPAVGSFVS ASSMAPYPTP AQVSPYMTYS AAPSGYVAGH
   301  GWQHAGGTSL SPHNCDIPAS LAFKGMQAAR EGSHSVTASA L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

77 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX9.

Disease | AllUniProt

Conditions PAX9 is implicated in, by any mechanism.

• Tooth agenesis, selective, 3 (STHAG3) MIM:604625

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 233 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Tooth agenesis, selective, 3
• Hypodontia
• Oligodontia
• PAX9-related disorder
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.61

gnomAD pLI

0.31

gnomAD missense Z

0.62

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to growth factor stimulus
• endoderm development
• face morphogenesis
• negative regulation of DNA-templated transcription
• odontogenesis
• regulation of odontogenesis
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleolus
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Paired domain
• Homedomain-like superfamily
• Winged helix-like DNA-binding domain superfamily
• Paired DNA-binding site
• PAX family
• 'Paired box' domain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Nucleus
• Paired box
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of PAX9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KDM5B
• FUBP3
• TLE1