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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PAX9 Gene

protein-coding   GIFtS: 61
GCID: GC14P037126

paired box 9

(Previous name: paired box gene 9 )
 Explore 19 diseases affiliated with
PAX9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PAX9    

Aliases
for PAX9 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Paired Box 91 2
STHAG32 5
Paired Box Gene 91
Paired Box Protein Pax-92
Paired Domain Gene 92

External Ids:    HGNC: 86231   Entrez Gene: 50832   Ensembl: ENSG000001988077   OMIM: 1674165   UniProtKB: P557713   

Export aliases for PAX9 gene to outside databases

Previous GC identifers: GC14P034511 GC14P030988 GC14P035120 GC14P036200 GC14P017241


Summaries
for PAX9 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PAX9:
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)

UniProtKB/Swiss-Prot: PAX9_HUMAN, P55771
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 (By similarity)

Gene Wiki entry for PAX9


Genomic Views
for PAX9 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAX9 gene promoter:
         c-Fos   AP-1   p300   MIF-1   c-Ets-1   PPAR-gamma1   IRF-2   Ik-2   c-Jun   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PAX9 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAX9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAX9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13.3   Ensembl cytogenetic band:  14q13.3   HGNC cytogenetic band: 14q13.3

PAX9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX9 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P037126:  view genomic region     (about GC identifiers)

Start:
 37,126,773 bp from pter      End:
 37,148,920 bp from pter
Size:
 22,148 bases      Orientation:
 plus strand

Proteins
for PAX9 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PAX9_HUMAN, P55771 (See protein sequence)
Recommended Name: Paired box protein Pax-9  
Size: 341 amino acids; 36310 Da
Subunit: Interacts with KDM5B
Subcellular location: Nucleus
Secondary accessions: Q99582 Q9UQR4

Explore the universe of human proteins at neXtProt for PAX9: NX_P55771

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55771

    • PAX9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006185.1  
    ENSEMBL proteins: 
     ENSP00000355245   ENSP00000450434   ENSP00000384817  

    Human Recombinant Protein Products: 
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    Novus Biologicals PAX9 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PAX9

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--
    GO:0005739mitochondrion IDA--


    PAX9 for ontologies           About GeneDecksing



    PAX9 Antibody Products: 
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    Uscn ELISAs and CLIAs for PAX9

    Protein Domains /
    Families
    for PAX9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PAX9 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001523 Paired_dom
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P55771

    ProtoNet protein and cluster: P55771

    1 Blocks protein family: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX9_HUMAN, P55771
    Similarity: Contains 1 paired domain


    Function
    for PAX9 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PAX9_HUMAN, P55771
    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 (By similarity)

         Genatlas biochemistry entry for PAX9:
    paired box (DNA binding) containing protein 9,with homeo domain,expressed in esophagus

    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate PAX9 (see all 26):
    hsa-miR-140-5p hsa-miR-181c hsa-miR-513a-5p hsa-miR-128 hsa-miR-4263 hsa-miR-25 hsa-miR-23a hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmid: PAX9 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX9 (see all 7)
    OriGene shRNA RFP: PAX9
    OriGene siRNA: PAX9
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell line associated with PAX9: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS--
    GO:0005515protein binding IPI12657635


    PAX9 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PAX9: Pax9tm1.1(Osr2)Jian Pax9tm1Hpt
         15/16 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Pax9) (see all 16):
     behavior/neurological  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail 
     mortality/aging  muscle  normal  reproductive system  respiratory system 

    PAX9 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PAX9 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TGF-beta/Smad Signaling
    		TGF-beta/Smad Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PAX9
        TGF-beta/Smad Signaling



    PAX9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/30 Interacting proteins for PAX9 (P557713 ENSP000003552454) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SSX4O602243, ENSP000003660834I2D: score=1 STRING: ENSP00000366083
    MSX1P283603, ENSP000003721704I2D: score=4 STRING: ENSP00000372170
    GTF2A1LQ9UNN43, ENSP000003845974I2D: score=1 STRING: ENSP00000384597
    SSX4BO602243I2D: score=1 
    KDM5BQ9UGL13, ENSP000003562344I2D: score=3 STRING: ENSP00000356234
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS--
    GO:0007275multicellular organismal development NAS--
    GO:0007492endoderm development IEA--
    GO:0042476odontogenesis IEA--


    PAX9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PAX9 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PAX9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PAX9
    1 Novoseek chemical compound relationship for PAX9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 13.6 2 14689302 (1), 12605438 (1)

    Search CenterWatch for drugs/clinical trials and news about PAX9 

    Transcripts
    for PAX9 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PAX9 gene: 
    NM_006194.3  

    Unigene Cluster for PAX9:

    Paired box 9
    Hs.132576  [show with all ESTs]
    Unigene Representative Sequence: NM_006194
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553267 ENST00000555639 ENST00000361487(uc010amq.3) ENST00000554201
    ENST00000557107 ENST00000402703(uc001wty.4)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX9
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate PAX9 (see all 26):
    hsa-miR-140-5p hsa-miR-181c hsa-miR-513a-5p hsa-miR-128 hsa-miR-4263 hsa-miR-25 hsa-miR-23a hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmid: PAX9 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX9 (see all 7)
    OriGene shRNA RFP: PAX9
    OriGene siRNA: PAX9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX9
    Clone
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    GenScript: all cDNA clones in your preferred vector: PAX9 (NM_006194)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX9

    Additional cDNA sequence: 

    AB248958.1 AK310339.1 AK313627.1 BC001159.1 U59628.1 X92850.1 

    3 DOTS entries:

    DT.105250  DT.97795703  DT.75110749 

    24 AceView cDNA sequences:

    BU931607 BE711150 BU844602 AA599070 AI031556 BX119073 AI092288 NM_006194 
    BC001159 BE711152 BX486844 BM845920 BM847076 BM981880 X92850 U59628 
    BE711245 AA781220 BE266872 CD622126 W56018 AI079139 AI022569 BF353482 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PAX9    About this scheme

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


    ECgene alternative splicing isoforms for PAX9

    Expression
    for PAX9 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PAX9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGGTAAACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PAX9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/41 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 41) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageCervical Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    SomiteCervical Central Neural ArchPrechondrocytic Mesenchymal CellsBone, Cartilage
    SomiteCervical Dorsal Neural ArchPrechondrocytic Mesenchymal CellsBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Anterior foregut progenitor cells (Directed differentia...)
    Mesoderm precursors (Generation of skelet...)
    Immature proximal lung cells (Directed differentia...)

    See PAX9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAX9

    SOURCE GeneReport for Unigene cluster: Hs.132576
        SABiosciences Expression via Pathway-Focused PCR Array including PAX9: 
              Stem Cell Transcription Factors in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for PAX9 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PAX9 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PAX91 paired box 9 78.1(n)
    81.47(a)    		   395740  NM_204912.1  NP_990243.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PAX96
    		 --
    		 87(a)
    		 1 ↔ 1
    		 1(24821681-24822340)
    African clawed frog
    (Xenopus laevis)    		 Amphibia pax9-A2 paired box gene 9 86.54(n)    AY033648.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pax92 paired box gene 9 72.61(n)   30558  NM_131298.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Poxm3 specific RNA polymerase II transcription
    factor    		 85(a)
    (best of 3)    		   84F11   --
    worm
    (Caenorhabditis elegans)    		 Secernentea K07C11.13 DNA-binding transcription factor 72(a)
    (best of 3)    		   V(8227563-8228635)   --


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

    Paralogs
    for PAX9 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAX9 gene
    PAX12  PAX72  PAX32  PAX52  PAX22  PAX82  PAX62  PAX42  
    10 SIMAP similar genes for PAX9 using alignment to 6 protein entries:     PAX9_HUMAN (see all proteins):
    Pax9    PAX6    PAX1    PAX2    PAX4    PAX5
    PAX8    PAX7    PAX7B    PAX3

    PAX9 for paralogs           About GeneDecksing



    Genomic Variants
    for PAX9 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/406 NCBI SNPs in PAX9 are shown (see all 406)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289339701,2
    		Cpathogenic17246513(+) GCCGCT/CGCCCA 2 /P /L mis1 ese32Minor allele frequency- C:0.00NA 4
    rs289339721,2
    		Cpathogenic17246527(+) CCATCC/TGGCTT 2 R W mis1 ese32Minor allele frequency- T:0.00NA 4
    rs289339711,2
    		Cpathogenic17246534(+) GCTTCG/CCATCG 2 /P /R mis1 ese32Minor allele frequency- C:0.00NA 4
    rs1219177201,2
    		Cpathogenic17246590(+) AGCTAC/TGGGTC 2 R W mis10--------
    rs1048944691,2
    		Cpathogenic17246602(+) CGCACA/GGCTGC 2 S G mis10--------
    rs1048944681,2
    		Cpathogenic17246710(+) AACACA/TTCCGG 2 I F mis10--------
    rs289333731,2
    		Cpathogenic17246722(+) CCTACA/GAGCAG 2 K E mis1 ese32Minor allele frequency- G:0.00NA 4
    rs1048944671,2
    		Cpathogenic17246791(+) GCGACA/TAGTAC 2 K * stg10--------
    rs171048741,2
    		C,F,H,--17239394(+) GTGAAT/CCGTGA 1 -- us2k1 tfbs310Minor allele frequency- C:0.06NA NS EA WA 792
    rs604753071,2
    		C,F,--17240033(+) CTCCTC/TGGAAG 1 -- us2k13Minor allele frequency- T:0.10WA CSA 122

    HapMap Linkage Disequilibrium report for PAX9 (37126773 - 37148920 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PAX9
         1 CNV: 58671
         1 Indel: 58672
    Human Gene Mutation Database (HGMD): PAX9

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    Disorders / Diseases
    for PAX9 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PAX9 for disorders           About GeneDecksing

    OMIM gene information: 167416   
    OMIM disorders: 604625  
    UniProtKB/Swiss-Prot: PAX9_HUMAN, P55771
  • Defects in PAX9 are the cause of tooth agenesis selective type 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)

    19 diseases for PAX9:    About MalaCards
    tooth agenesis, selective, 3    tooth agenesis    hypohidrotic ectodermal dysplasia    cleft lip/palate
    neural tube defect    cleft lip    benign hereditary chorea    hypodontia
    spina bifida    dentin dysplasia    chorea    ectodermal dysplasia
    oligodontia    cleft palate    twinning    lung cancer
    breast cancer    melanoma    carcinoma

    4 diseases from the University of Copenhagen DISEASES database for PAX9:
    Tooth agenesis     Dentin dysplasia     Cleft lip     Cleft palate

    3 Novoseek disease relationships for PAX9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tooth agenesis, selective 97.8 6 11374781 (2), 16585527 (1), 12786960 (1), 11941488 (1) (see all 5)
    hypodontia 94.4 50 14689302 (4), 16191360 (3), 11941488 (3), 17910065 (3) (see all 23)
    cleft lip 47.6 1 16247549 (1)

    Genetic Association Database (GAD): PAX9
    Human Genome Epidemiology (HuGE) Navigator: PAX9 (12 documents)

    Export disorders for PAX9 gene to outside databases

    Publications
    for PAX9 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PAX9 gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with PAX9)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. (PubMed id 7981748)1, 2, 3 Stapleton P.... Busslinger M. (1993)
    2. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. (PubMed id 11941488)1, 4, 9 Das P....Patel P.I. (2002)
    3. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. (PubMed id 14689302)1, 4, 9 Jumlongras D....Olsen B.R. (2004)
    4. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. (PubMed id 12786960)1, 2, 9 Mostowska A.... Trzeciak W.H. (2003)
    5. Human PLU-1 has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9. (PubMed id 12657635)1, 2, 9 Tan K....Freemont P.S. (2003)
    6. 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. (PubMed id 16247549)1, 4, 9 Ichikawa E....Yoshiura K. (2006)
    7. Evolutionary conservation of gene structures of the Pax1/9 gene family. (PubMed id 10899593)1, 2, 9 Hetzer-Egger C.... Boehm T. (2000)
    8. Association between PAX-9 promoter polymorphisms and hypodontia in humans. (PubMed id 16137495)1, 4, 9 Peres R.C....Line S.R. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Isolation of the Pax9 cDNA from adult human esophagus. (PubMed id 9021154)1, 2 Peters H.... Hoefler H. (1997)

    External Searches for PAX9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PAX9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5083 HGNC: 8623 AceView: PAX9 Ensembl:ENSG00000198807 euGenes: HUgn5083
    ECgene: PAX9 H-InvDB: PAX9

    Other Databases showing PAX9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PAX9 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PAX9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX9 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for PAX9 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PAX9 gene:
    Search GeneIP for patents involving PAX9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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