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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:56738552-56759607 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 24.53 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    160 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97493
 protein coding gene Chr12:56738478-56759609 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019757
 protein coding gene Chr12:55820044-55842106 (+)
A/J MGP_AJ_G0019716
 protein coding gene Chr12:53783890-53807465 (+)
AKR/J MGP_AKRJ_G0019691
 protein coding gene Chr12:55485435-55506912 (+)
BALB/cJ MGP_BALBcJ_G0019696
 protein coding gene Chr12:54133556-54155902 (+)
C3H/HeJ MGP_C3HHeJ_G0019501
 protein coding gene Chr12:55550746-55573678 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020148
 protein coding gene Chr12:57476069-57501015 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017768
 protein coding gene Chr12:52250331-52271294 (+)
CAST/EiJ MGP_CASTEiJ_G0019053
 protein coding gene Chr12:50446175-50473464 (+)
CBA/J MGP_CBAJ_G0019470
 protein coding gene Chr12:59488770-59509829 (+)
DBA/2J MGP_DBA2J_G0019586
 protein coding gene Chr12:53687829-53709376 (+)
FVB/NJ MGP_FVBNJ_G0019574
 protein coding gene Chr12:52989661-53013742 (+)
LP/J MGP_LPJ_G0019658
 protein coding gene Chr12:55791778-55814082 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019612
 protein coding gene Chr12:61047636-61071084 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020182
 protein coding gene Chr12:54925483-54946436 (+)
PWK/PhJ MGP_PWKPhJ_G0018820
 protein coding gene Chr12:48059968-48081567 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018613
 protein coding gene Chr12:49363716-49388932 (+)
WSB/EiJ MGP_WSBEiJ_G0019104
 protein coding gene Chr12:55451016-55474425 (+)



Homology
more
  • Human Ortholog
    PAX9, paired box 9
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX9, paired box 9
  • Synonyms
    STHAG3
  • Links
    NCBI Gene ID: 5083
    neXtProt AC: NX_P55771
    UniProt: P55771

  • Chr Location
    14q13.3; chr14:36657568-36679362 (+)  GRCh38
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
less
  • Phenotype Summary
    84 phenotypes from 5 alleles in 10 genetic backgrounds
    39 phenotypes from multigenic genotypes
    35 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    27
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1264
  • Tissues
    272
  • cDNA Data
    16
  • Literature Summary
    197
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001497 Ensembl Gene Model | MGI Sequence Detail 21056 C57BL/6J ±  kb
    transcript ENSMUST00000001538 Ensembl | MGI Sequence Detail 4166 Not Applicable  
    polypeptide ENSMUSP00000001538 Ensembl | MGI Sequence Detail 342 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 66
      Genomic 2
      cDNA 21
      Primer pair 11
      Other 32

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13152, MGD-MRK-13161
    References
    more
    • Summaries
      All 253
      Developmental Gene Expression 197
      Diseases 1
      Gene Ontology 10
      Phenotypes 35
    • 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:346126 Pappas MP, et al., Sall4 regulates posterior trunk mesoderm development by promoting mesodermal gene expression and repressing neural genes in the mesoderm. Development. 2024 Mar 1;151(5)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory