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PAX9 Gene

protein-coding   GIFtS: 61
GCID: GC14P037126

Paired Box 9

(Previous name: paired box gene 9)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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)

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. An important paralog of this gene is PAX1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 plasmidPAX9 promoter sequence
   Search Chromatin IP Primers for PAX9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
Secondary accessions: Q99582 Q9UQR4

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

Explore proteomics data for PAX9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    PAX9 Human Recombinant Protein Products:

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    Novus Biologicals PAX9 Proteins
    Novus Biologicals PAX9 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PAX9
    Cloud-Clone Corp. Proteins for PAX9

    PAX9 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals PAX9 Antibodies
    Abcam antibodies for PAX9
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    ThermoFisher Antibodies for PAX9
    LSBio Antibodies in human, mouse, rat for PAX9

    PAX9 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PAX9
    Cloud-Clone Corp. CLIAs for PAX9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PAX: Paired boxes

    3 InterPro protein domains:
     IPR001523 Paired_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P55771

    ProtoNet protein and cluster: P55771

    1 Blocks protein domain: IPB001523 Paired box protein

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


    PAX9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI12657635
         
    PAX9 for ontologies           About GeneDecksing


    Phenotypes:
         Selected 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/body  hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail 
     mortality/aging  muscle  normal  reproductive system  respiratory system 

    PAX9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PAX9: Pax9tm1.1(Osr2)Jian Pax9tm1Hpt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAX9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAX9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAX9

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PAX9 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidPAX9 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAX9
    Predesigned siRNA for gene silencing in human, mouse, rat PAX9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAX9

    Clone
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    OriGene clones in human, mouse for PAX9 (see all 5)
    OriGene ORF clones in mouse, rat for PAX9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAX9 (NM_006194)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX9

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PAX9
    ESI BIO PureStem Progenitor for PAX9: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX9


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PAX9_HUMAN, P55771: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion ----

    PAX9 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PAX9 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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



    PAX9 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PAX9: 
              Stem Cell Transcription Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAX9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for PAX9 (P557713 ENSP000003552454) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    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): Selected biological process terms (see all 10):    About this table

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

    PAX9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PAX9

    1 Novoseek inferred 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)



    PAX9 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat PAX9 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidPAX9 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PAX9
    Predesigned siRNA for gene silencing in human, mouse, rat PAX9
    Clone
    Products:
         
    OriGene clones in human, mouse for PAX9 (see all 5)
    OriGene ORF clones in mouse, rat for PAX9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAX9 (NM_006194)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX9
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PAX9
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX9
      QuantiTect SYBR Green Assays in human, mouse, rat PAX9
      QuantiFast Probe-based Assays in human, mouse, rat PAX9

    Additional mRNA 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:

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

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PAX9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGTAAACT
    PAX9 Expression
    About this image


    PAX9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             Laryngeal Cartilage
     
     Bone (Muscoskeletal System)    fully expand to see all 14 entries
             Prechondrocytic Mesenchymal Cells Central Neural Arch
     
     Somite (Muscoskeletal System)    fully expand to see all 8 entries
             Sacral Somite Cells Sacral Somite
     
     Tendon & Ligament
             Sacral Sclerotome Cells Sacral Mesenchymal Sclerotome
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 4 entries
             Foregut Endoderm Cells Foregut
             Foregut
             Anterior foregut progenitor cells
    PAX9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132576
        Pathway & Disease-focused RT2 Profiler PCR Array including PAX9: 
              Stem Cell Transcription Factors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PAX9
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX9
    QuantiTect SYBR Green Assays in human, mouse, rat PAX9
    QuantiFast Probe-based Assays in human, mouse, rat PAX9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX9

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PAX9 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax91 , 5 paired box gene 95
    paired box 91
    92.77(n)1
    98.53(a)1
      12 (24.53 cM)5
    185111  NM_011041.21  NP_035171.11 
     566917675 
    chicken
    (Gallus gallus)
    Aves PAX91 paired box 9 82.75(n)
    90(a)
      395740  XM_004941921.1  XP_004941978.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAX96
    paired box 9
    90(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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAX9 gene
    PAX12  PAX72  PAX32  PAX52  PAX22  PAX82  PAX62  PAX42  
    8 SIMAP similar genes for PAX9 using alignment to 6 protein entries:     PAX9_HUMAN (see all proteins):
    Pax9    PAX6    PAX1    PAX2    PAX5    PAX4
    PAX8    PAX3

    PAX9 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PAX9 (see all 501)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0156984
    Tooth agenesis selective 3 (STHAG3)4--see VAR_0156982 G S mis40--------
    rs289339701,2
    Cpathogenic118129250(+) GCCGCC/TGCCCA 2 P L mis1 ese30--------
    rs289339721,2
    Cpathogenic118129264(+) CCATCC/TGGCTT 2 R W mis1 ese30--------
    rs289339711,2
    Cpathogenic118129271(+) GCTTCC/GCATCG 2 P R mis1 ese30--------
    rs1219177201,2
    Cpathogenic118129327(+) AGCTAC/TGGGTC 2 R W mis10--------
    rs1048944691,2
    Cpathogenic118129339(+) CGCACA/GGCTGC 2 S G mis10--------
    rs1048944681,2
    Cpathogenic118129447(+) AACACA/TTCCGG 2 I F mis10--------
    rs289333731,2
    Cpathogenic118129459(+) CCTACA/GAGCAG 2 K E mis1 ese30--------
    rs1048944671,2
    Cpathogenic118129528(+) GCGACA/TAGTAC 2 K * stg10--------
    rs2020487431,2
    C--17256328(+) ATGTT-/GTGTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for PAX9 (37126773 - 37148920 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PAX9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819749CNV Loss19587683
    nsv819585CNV Gain19587683

    Human Gene Mutation Database (HGMD): PAX9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAX9
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 167416   
    OMIM disorders: 604625  
    UniProtKB/Swiss-Prot: PAX9_HUMAN, P55771
  • 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). Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20 diseases for PAX9:    
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    tooth agenesis, selective, 3    tooth agenesis    benign hereditary chorea    tooth agenesis, selective, 1, with or without orofacial cleft
    chorea    hypohidrotic ectodermal dysplasia    dentin dysplasia    cleft lip
    ectodermal dysplasia    spina bifida    neural tube defects    cleft palate
    lung cancer    esophagitis    melanoma    cervicitis
    breast cancer    multiple myeloma    myeloma    thyroiditis

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

    PAX9 for disorders           About GeneDecksing

    3 Novoseek inferred 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

    (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)
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    PubMed articles for PAX9 gene, integrated from 10 sources (see all 103):
    (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. (Nat. Genet. 1993)
    2. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. (PubMed id 11941488)1, 4, 9 Das P....Patel P.I. (Hum. Genet. 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. (Hum. Genet. 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. (Eur. J. Oral Sci. 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. (J. Biol. Chem. 2003)
    6. PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. (PubMed id 18353002)1, 4, 9 Pan Y....Huang Y. (Eur. J. Oral Sci. 2008)
    7. 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. (J. Hum. Genet. 2006)
    8. Evolutionary conservation of gene structures of the Pax1/9 gene family. (PubMed id 10899593)1, 2, 9 Hetzer-Egger C.... Boehm T. (Biochim. Biophys. Acta 2000)
    9. Association between PAX-9 promoter polymorphisms and hypodontia in humans. (PubMed id 16137495)1, 4, 9 Peres R.C....Line S.R. (Arch. Oral Biol. 2005)
    10. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. (PubMed id 19142206)1, 4, 9 Sull J.W....Beaty T.H. (Eur. J. Hum. Genet. 2009)

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

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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