Pax9 paired box 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pax9provided by MGI
Official Full Name: paired box 9provided by MGI
Primary source: MGI:MGI:97493
See related: Ensembl:ENSMUSG00000001497 AllianceGenome:MGI:97493
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pax-9
Summary: 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]
Expression: Biased expression in thymus adult (RPKM 3.2), lung adult (RPKM 2.8) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 24.53 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (56738478..56759609)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (56691693..56712824)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly.
Title: HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly.
Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype.
Title: Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype.
Pax9's dual roles in modulating Wnt signaling during murine palatogenesis.
Title: Pax9's dual roles in modulating Wnt signaling during murine palatogenesis.
Paired box 9 regulates VSMC phenotypic transformation, proliferation, and migration via sonic hedgehog.
Title: Paired box 9 regulates VSMC phenotypic transformation, proliferation, and migration via sonic hedgehog.
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Title: Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Tbx1-Pax9-controlled signalling mechanism emanating from the pharyngeal endoderm is required for crucial tissue interactions during normal morphogenesis of the pharyngeal arch artery system.
Title: Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis.
PAX9 regulates squamous cell differentiation in the oro-oesophageal epithelium. Alcohol drinking and promoter hypermethylation are associated with PAX9 silencing in oro-oesophageal squamous cell carcinoma.
Title: PAX9 regulates squamous cell differentiation and carcinogenesis in the oro-oesophageal epithelium.
Pax9-dependent Wnt signaling has a role in palatogenesis and cleft palates
Title: Small-molecule Wnt agonists correct cleft palates in Pax9 mutant mice in utero.
The formation of endoderm-derived taste sensory organs requires a Pax9-dependent expansion of embryonic taste bud progenitor cells. A primary function for Pax9 in the expansion of taste progenitor fields in taste papillae.
Title: The formation of endoderm-derived taste sensory organs requires a Pax9-dependent expansion of embryonic taste bud progenitor cells.
Transfection of Pax9 and Bmp4 into mouse induced pluripotent stem cells facilitates their differentiation into odontoblast-like cells for cell- and tissue-based therapy.
Title: Differentiation of Odontoblast-Like Cells From Mouse Induced Pluripotent Stem Cells by Pax9 and Bmp4 Transfection.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (10) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548390

BB158148 (e-PCR)
- UniSTS:185932

NoName (e-PCR)
- UniSTS:225170

D10Bir5 (e-PCR), detects polymorphism
- UniSTS:141485

PMC317134P1 (e-PCR)
- UniSTS:273075

X84000 (e-PCR)
- UniSTS:163526

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cellular response to growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within face morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within odontogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of odontogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: paired box protein Pax-9

Names: paired box gene 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.