Pax9
Gene Detail

Symbol Name ID

Pax9 paired box gene 9 MGI:97493

Synonyms

Pax-9

Feature Type

protein coding gene

Genetic Map

Chromosome 12

24.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr12:56691767-56712822 bp, + strand From VEGA annotation of GRCm38   21056 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:31360  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: paired box protein PAX
Gene Tree: Pax9

Human homologs

Human Homolog		PAX9, paired box 9
NCBI Gene ID		5083
neXtProt AC		NX_P55771
Human Synonyms		STHAG3
Human Chr (Location)		14q13.3; chr14:37126773-37147012 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PAX9

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

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.

 
Human Diseases Modeled Using Mouse Pax9 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	cellular response to growth factor stimulus, endoderm development, ...
Component	mitochondrion, nucleus, ...
Function	DNA binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (126 records)
Data Summary: Results (359)    Tissues (202)    Images (106)
Theiler Stages: 13, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	335
In situ reporter (knock in)	2
Northern blot	8
RNase protection	9

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) Genomic(2) cDNA(13) Other(8)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000023206 (Evidence)
Ensembl Gene Model	ENSMUSG00000001497 (Evidence)
Entrez Gene	18511 (Evidence)
NIA Mouse Gene Index	U013975
Consensus CDS Project	CCDS25924.1
International Mouse Knockout Project Status	Pax9

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023206	VEGA Gene Model | MGI Sequence Detail	21056	C57BL/6J
transcript	OTTMUST00000056158	VEGA | MGI Sequence Detail	4347	Not Applicable
polypeptide	OTTMUSP00000026953	VEGA | MGI Sequence Detail	342	Not Applicable

All sequences(25) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(2) : SNPs(88 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009057	Homeodomain-like
InterPro	IPR001523	Paired domain
InterPro	IPR011991	Winged helix-turn-helix transcription repressor DNA-binding
Protein Ontology	PR:000012321	paired box protein Pax-9

References

(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:188038 Bowers M, et al., Limb anterior-posterior polarity integrates activator and repressor functions of GLI2 as well as GLI3. Dev Biol. 2012 Oct 1;370(1):110-24
All references(165)

Other accession IDs

MGD-MRK-13152, MGD-MRK-13161