PAX9 paired box 9 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: PAX9provided by HGNC
Official Full Name: paired box 9provided by HGNC
Primary source: HGNC:8623
See related: Ensembl:ENSG00000198807; HPRD:01336; MIM:167416; Vega:OTTHUMG00000140251
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STHAG3
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. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. [provided by RefSeq, Jul 2008]

Help top of page

Genomic context

Location :: 14q13.3

Sequence :: Chromosome: 14; NC_000014.8 (37126773..37147012)

See PAX9 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Pax9hapl a may have a protective effect against sporadic oligodontia
Title: Understanding the implications of the PAX9 gene in tooth development.
A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.
Title: A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.
a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia, mutations were identified in the EDARADD), AXIN2, MSX1, and PAX9 genes
Title: Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
Common variants located out of the DNA binding domain of the PAX9 gene can be related to tooth agenesis.
Title: PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis.
a set of variants in PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa.
Title: Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.
This study describes how the same mutation is responsible for a form of dental agenesis--less severe in the number of missing teeth--leading to hypodontia instead of oligodontia. Mutations of the same gene cause different phenotypes.
Title: Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of monozygotic twins about PAX9 mutation.
322insG mutation causes insufficient function of PAX9 protein and haploinsufficiency as a genetic model of familial non-syndromic oligodontia
Title: Non-syndromic oligodontia with a novel mutation of PAX9.
A polymorphism in the PAX9 gene was detected in individuals with maxillary lateral incisor agenesis, the frequency of which was not, however, statistically different from that in the control population.
Title: Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis.
investigation of transcriptional activity of specific regions of promoter region of PAX9 gene: sequences present between -1106 and +92 are important for expression of PAX9
Title: Transcriptional activity analysis of promoter region of human PAX9 gene under dexamethasone, retinoic acid, and ergocalciferol treatment in MCF-7 and MDPC23.
mutations of the PAX9 gene may represent polymorphism associated with sporadic oligodontia
Title: Mutations in the PAX9 gene in sporadic oligodontia.

Submit: New GeneRIF Correction See all (37)

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P55771	PLU 1	KDM5B	HPRD	PubMed
P55771	P28360	MSX1	HPRD	PubMed
BioGRID:111117	BioGRID:114451	FUBP3	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:116225	GTF2A1L	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:115984	KDM5B	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:111117	BioGRID:114012	NR0B2	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:112637	SSX4	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:112943	TLE1	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:112944	TLE2	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:114735	TRIP4	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:125953	ZNF440	BioGRID	PubMed	Two-hybrid
BioGRID:111117	BioGRID:119340	ZNF580	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
DNA binding	NAS Non-traceable Author Statement more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
endoderm development	IEA Inferred from Electronic Annotation more info
face morphogenesis	IEA Inferred from Electronic Annotation more info
multicellular organismal development	NAS Non-traceable Author Statement more info
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
regulation of odontogenesis	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	NAS Non-traceable Author Statement more info

General protein information

Preferred Names: paired box protein Pax-9

Names: paired box protein Pax-9; paired domain gene 9

Help top of page

NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_013357.1 RefSeqGene

Range

5001..25240

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006194.3 → NP_006185.1 paired box protein Pax-9

Status: REVIEWED

Source sequence(s)

AB248958, AL079303, BC001159, DB196800, DB233208

Consensus CDS

CCDS9662.1

UniProtKB/Swiss-Prot

P55771

UniProtKB/TrEMBL

Q2L4T1

Related

ENSP00000384817, ENST00000402703

Conserved Domains (2) summary

cd00131
Location:6 – 131
Blast Score: 590

PAX; Paired Box domain

smart00351
Location:6 – 128
Blast Score: 622

PAX; Paired Box domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

37126773..37147012

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

17241127..17261385

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ238381.1	CAB41533.1
genomic	AJ238382.1	None
genomic	AJ238383.1	None
genomic	AL079303.3 (104162..114885)	None
genomic	AY338688.1	AAQ16120.1
genomic	CH471078.2	EAW65853.1
genomic	HM214049.1	ADR64982.1
genomic	HM214050.1	ADR64983.1
genomic	HM214053.1	ADR64986.1
genomic	HM214058.1	ADR64991.1
genomic	HM214064.1	ADR64997.1
genomic	HM214066.1	ADR64999.1
genomic	HM214076.1	ADR65009.1
genomic	HM214078.1	ADR65011.1
genomic	HM214083.1	ADR65016.1
genomic	HM214084.1	ADR65017.1
genomic	HM214086.1	ADR65019.1
genomic	HM214098.1	ADR65031.1
genomic	HM214105.1	ADR65038.1
genomic	HM214112.1	ADR65045.1
genomic	HM214113.1	ADR65046.1
genomic	HM214115.1	ADR65048.1
genomic	HM214117.1	ADR65050.1
genomic	L09745.1	None
mRNA	AB248958.1	BAE79273.1
mRNA	AK310339.1	None
mRNA	AK313627.1	BAG36387.1
mRNA	AW293964.1	None
mRNA	BC001159.1	AAH01159.1
mRNA	DA667732.1	None
mRNA	DB196800.1	None
mRNA	DB233208.1	None
mRNA	U59628.1	AAD09487.1
mRNA	X92850.1	CAA63436.1
other-genetic	EU176374.1	ABW03825.1
other-genetic	EU176711.1	ABW03512.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
O95616	GenPept	UniProtKB/TrEMBL:O95616
P55771.3	GenPept	UniProtKB/Swiss-Prot:P55771
Q2L4T1	GenPept	UniProtKB/TrEMBL:Q2L4T1
Q7Z4A7	GenPept	UniProtKB/TrEMBL:Q7Z4A7