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Aliases for PAX9 Gene

Aliases for PAX9 Gene

  • Paired Box 9 2 3 5
  • Paired Box Protein Pax-9 3
  • Paired Domain Gene 9 3
  • Paired Box Gene 9 2
  • STHAG3 3

External Ids for PAX9 Gene

Previous GeneCards Identifiers for PAX9 Gene

  • GC14P034511
  • GC14P030988
  • GC14P035120
  • GC14P036200
  • GC14P037126
  • GC14P017241

Summaries for PAX9 Gene

Entrez Gene Summary for PAX9 Gene

  • 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]

GeneCards Summary for PAX9 Gene

PAX9 (Paired Box 9) is a Protein Coding gene. Diseases associated with PAX9 include Tooth Agenesis, Selective, 3 and Tooth Agenesis. Among its related pathways are Wnt / Hedgehog / Notch. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding. An important paralog of this gene is PAX1.

UniProtKB/Swiss-Prot for PAX9 Gene

  • Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.

Gene Wiki entry for PAX9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX9 Gene

Genomics for PAX9 Gene

Regulatory Elements for PAX9 Gene

Enhancers for PAX9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F036661 0.7 ENCODE 8.3 +4.5 4473 2.0 HDAC1 PKNOX1 KLF17 SIN3A ZNF121 SCRT2 ZNF202 ZNF263 SP3 NFYA NKX2-8 RPL29P3 LOC105370455 PAX9 ENSG00000258690
GH14F036952 0.6 ENCODE 7.8 +295.5 295513 1.3 JUN EP300 RAD21 MAFF JUND GATA3 STAT3 FOS HOMEZ PAX9 MIR4503 GC14P036975
GH14F036666 0.6 ENCODE 7.7 +8.9 8943 0.2 ZNF202 RNF2 SUZ12 CBX2 YBX1 CTBP2 MLLT1 ZBTB33 EZH2 LOC105370455 PAX9 ENSG00000258690
GH14F036646 1 Ensembl ENCODE 7.4 -9.7 -9740 1.7 ELF3 PKNOX1 FEZF1 DMAP1 ZNF2 ZNF48 RAD21 ZNF335 FOS ZHX1 LOC105370455 NKX2-8 RPL29P3 PAX9 RN7SKP257 GC14M036594
GH14F036517 1 Ensembl ENCODE 4.8 -138.3 -138335 4.2 ELF3 PKNOX1 INSM2 GLI4 DMAP1 ZNF48 RAD21 ZNF2 GLIS2 ZNF366 PAX9 NKX2-8 NKX2-1-AS1 SFTA3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PAX9 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAX9 Gene

Chromosome:
14
Start:
36,657,568 bp from pter
End:
36,679,715 bp from pter
Size:
22,148 bases
Orientation:
Plus strand

Genomic View for PAX9 Gene

Genes around PAX9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX9 Gene

Proteins for PAX9 Gene

  • Protein details for PAX9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55771-PAX9_HUMAN
    Recommended name:
    Paired box protein Pax-9
    Protein Accession:
    P55771
    Secondary Accessions:
    • Q99582
    • Q9UQR4

    Protein attributes for PAX9 Gene

    Size:
    341 amino acids
    Molecular mass:
    36310 Da
    Quaternary structure:
    • Interacts with KDM5B.

neXtProt entry for PAX9 Gene

Post-translational modifications for PAX9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAX9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAX9 (PAX9)

No data available for DME Specific Peptides for PAX9 Gene

Domains & Families for PAX9 Gene

Gene Families for PAX9 Gene

Protein Domains for PAX9 Gene

Suggested Antigen Peptide Sequences for PAX9 Gene

Graphical View of Domain Structure for InterPro Entry

P55771

UniProtKB/Swiss-Prot:

PAX9_HUMAN :
  • Contains 1 paired domain.
Domain:
  • Contains 1 paired domain.
genes like me logo Genes that share domains with PAX9: view

Function for PAX9 Gene

Molecular function for PAX9 Gene

GENATLAS Biochemistry:
paired box (DNA binding) containing protein 9,with homeo domain,expressed in esophagus
UniProtKB/Swiss-Prot Function:
Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.

Gene Ontology (GO) - Molecular Function for PAX9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 12657635
genes like me logo Genes that share ontologies with PAX9: view
genes like me logo Genes that share phenotypes with PAX9: view

Human Phenotype Ontology for PAX9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX9 Gene

MGI Knock Outs for PAX9:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAX9

Cell Line Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PAX9 Gene

Localization for PAX9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX9 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAX9 Gene COMPARTMENTS Subcellular localization image for PAX9 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for PAX9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PAX9: view

Pathways & Interactions for PAX9 Gene

SuperPathways for PAX9 Gene

SuperPathway Contained pathways
1 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with PAX9: view

Pathways by source for PAX9 Gene

1 Cell Signaling Technology pathway for PAX9 Gene

Gene Ontology (GO) - Biological Process for PAX9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
GO:0007492 endoderm development IEA --
genes like me logo Genes that share ontologies with PAX9: view

No data available for SIGNOR curated interactions for PAX9 Gene

Drugs & Compounds for PAX9 Gene

(1) Drugs for PAX9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PAX9: view

Transcripts for PAX9 Gene

Unigene Clusters for PAX9 Gene

Paired box 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAX9

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAX9 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2:
SP3: - - -

Relevant External Links for PAX9 Gene

GeneLoc Exon Structure for
PAX9
ECgene alternative splicing isoforms for
PAX9

Expression for PAX9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAX9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX9 Gene

This gene is overexpressed in Esophagus - Mucosa (x33.1) and Minor Salivary Gland (x9.3).

Protein differential expression in normal tissues from HIPED for PAX9 Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PAX9 Gene



Protein tissue co-expression partners for PAX9 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAX9 Gene:

PAX9

SOURCE GeneReport for Unigene cluster for PAX9 Gene:

Hs.132576
genes like me logo Genes that share expression patterns with PAX9: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PAX9 Gene

Orthologs for PAX9 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAX9 34 35
  • 98.14 (n)
oppossum
(Monodelphis domestica)
Mammalia PAX9 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAX9 34 35
  • 93.84 (n)
dog
(Canis familiaris)
Mammalia PAX9 34 35
  • 92.96 (n)
mouse
(Mus musculus)
Mammalia Pax9 34 16 35
  • 92.77 (n)
rat
(Rattus norvegicus)
Mammalia Pax9 34
  • 91.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAX9 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAX-9 35
  • 88 (a)
OneToOne
PAX9 34
  • 82.75 (n)
lizard
(Anolis carolinensis)
Reptilia PAX9 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pax9 34
  • 77.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia pax9-A 34
zebrafish
(Danio rerio)
Actinopterygii pax9 34 35
  • 67.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta Poxm 36 35
  • 85 (a)
sv 36
  • 70 (a)
Poxn 36
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea K07C11.1 36
  • 72 (a)
egl-38 36
  • 67 (a)
K06B9.5 36
  • 55 (a)
pax-1 35
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13184 34
Species where no ortholog for PAX9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX9 Gene

ENSEMBL:
Gene Tree for PAX9 (if available)
TreeFam:
Gene Tree for PAX9 (if available)

Paralogs for PAX9 Gene

Paralogs for PAX9 Gene

(8) SIMAP similar genes for PAX9 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PAX9: view

Variants for PAX9 Gene

Sequence variations from dbSNP and Humsavar for PAX9 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs104894469 Tooth agenesis, selective, 3 (STHAG3) [MIM:604625], Pathogenic 36,663,043(+) CGCAC(A/G)GCTGC upstream-variant-2KB, reference, missense
rs104894467 Pathogenic 36,663,232(+) GCGAC(A/C/T)AGTAC upstream-variant-2KB, reference, missense, stop-gained
rs104894468 Pathogenic 36,663,151(+) AACAC(A/T)TCCGG upstream-variant-2KB, reference, missense
rs121917720 Pathogenic 36,663,031(+) AGCTA(C/T)GGGTC upstream-variant-2KB, reference, missense
rs28933373 Pathogenic 36,663,163(+) CCTAC(A/G)AGCAG upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PAX9 Gene

Variant ID Type Subtype PubMed ID
nsv819585 CNV gain 19587683
nsv819749 CNV loss 19587683
nsv952826 CNV deletion 24416366

Variation tolerance for PAX9 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.23; 84.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAX9 Gene

Human Gene Mutation Database (HGMD)
PAX9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX9 Gene

Disorders for PAX9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PAX9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tooth agenesis, selective, 3
  • hypodontia/oligodontia 3
tooth agenesis
  • familial tooth agenesis
anodontia
  • anodontia nos
chromosome 14q11-q22 deletion syndrome
  • 14q11.2 microdeletion syndrome
cleft lip
  • cheiloschisis
- elite association - COSMIC cancer census association via MalaCards
Search PAX9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX9_HUMAN
  • Tooth agenesis, selective, 3 (STHAG3) [MIM:604625]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269 PubMed:12786960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PAX9

Genetic Association Database (GAD)
PAX9
Human Genome Epidemiology (HuGE) Navigator
PAX9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAX9
genes like me logo Genes that share disorders with PAX9: view

No data available for Genatlas for PAX9 Gene

Publications for PAX9 Gene

  1. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. (PMID: 19142206) Sull J.W. … Beaty T.H. (Eur. J. Hum. Genet. 2009) 3 22 46 64
  2. PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (PMID: 18353002) Pan Y. … Huang Y. (Eur. J. Oral Sci. 2008) 3 22 46 64
  3. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PMID: 16247549) Ichikawa E. … Yoshiura K. (J. Hum. Genet. 2006) 3 22 46 64
  4. Association between PAX-9 promoter polymorphisms and hypodontia in humans. (PMID: 16137495) Peres R.C. … Line S.R. (Arch. Oral Biol. 2005) 3 22 46 64
  5. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. (PMID: 14689302) Jumlongras D. … Olsen B.R. (Hum. Genet. 2004) 3 22 46 64

Products for PAX9 Gene

Sources for PAX9 Gene

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