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Pax9 Gene Detail
Summary
  • Symbol
    Pax9
  • Name
    paired box 9
  • Synonyms
    Pax-9
  • Feature Type
    protein coding gene
  • IDs
    MGI:97493
    NCBI Gene: 18511
  • Gene Overview
    MyGene.info: PAX9
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:56691767-56712707 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20941 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 24.53 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    PAX9, paired box 9
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PAX9, paired box 9
    Orthology source: HomoloGene, HGNC
  • Synonyms
    STHAG3
  • Links
    NCBI Gene ID: 5083
    neXtProt AC: NX_P55771
    UniProt: P55771

  • Chr Location
    14q13.3; chr14:36657568-36677807 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pax9 mouse models; 1 with human PAX9 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    59 phenotypes from 6 alleles in 8 genetic backgrounds
    13 phenotypes from multigenic genotypes
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene results in abnormal tooth development and absent teeth and may lead to lack of pharyngeal pouch derivatives, athymia, craniofacial and limb anomalies, a small tympanic ring, various defects of the skeleton and musculature, and neonatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023206 VEGA Gene Model | MGI Sequence Detail 20941 C57BL/6J ±  kb
    transcript OTTMUST00000056158 VEGA | MGI Sequence Detail 4232 Not Applicable  
    polypeptide OTTMUSP00000026953 VEGA | MGI Sequence Detail 342 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      160 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 2
      cDNA 15
      Primer pair 2
      Other 12

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13152, MGD-MRK-13161
    References
    more
    • Summaries
      All 211
      Developmental Gene Expression 163
      Diseases 1
      Gene Ontology 10
      Phenotypes 24
    • Earliest
      J:4336 Stapleton P, et al., Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nat Genet. 1993 Apr;3(4):292-8
    • Latest
      J:264351 Rivera-Reyes R, et al., Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins. PLoS One. 2018;13(8):e0200964

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory