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    PAX9 paired box 9 [ Homo sapiens (human) ]

    Gene ID: 5083, updated on 22-Aug-2021

    Summary

    Official Symbol
    PAX9provided by HGNC
    Official Full Name
    paired box 9provided by HGNC
    Primary source
    HGNC:HGNC:8623
    See related
    Ensembl:ENSG00000198807 MIM:167416
    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. 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]
    Expression
    Biased expression in esophagus (RPKM 29.7), salivary gland (RPKM 11.4) and 1 other tissue See more
    Orthologs
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    Genomic context

    See PAX9 in Genome Data Viewer
    Location:
    14q13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (36657568..36679362)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (37126773..37148567)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 257 Neighboring gene NK2 homeobox 8 Neighboring gene uncharacterized LOC105370455 Neighboring gene PAX9 promoter region Neighboring gene solute carrier family 25 member 21 Neighboring gene uncharacterized LOC107984668 Neighboring gene microRNA 4503

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    GeneReviews: Not available
    Tooth agenesis, selective, 3
    MedGen: C1970291 OMIM: 604625 GeneReviews: Not available
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    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    paired box protein Pax-9
    Names
    paired domain gene 9

    NCBI Reference Sequences (RefSeq)

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    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

    1. NG_013357.1 RefSeqGene

      Range
      5001..25240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001372076.1NP_001359005.1  paired box protein Pax-9

      Status: REVIEWED

      Source sequence(s)
      AL079303
      Related
      ENSP00000355245.6, ENST00000361487.7
      Conserved Domains (1) summary
      cd00131
      Location:6131
      PAX; Paired Box domain
    2. NM_006194.4NP_006185.1  paired box protein Pax-9

      See identical proteins and their annotated locations for NP_006185.1

      Status: REVIEWED

      Source sequence(s)
      AB248958, AL079303, BC001159, DB196800, DB233208
      Consensus CDS
      CCDS9662.1
      UniProtKB/Swiss-Prot
      P55771
      UniProtKB/TrEMBL
      Q2L4T1
      Related
      ENSP00000384817.2, ENST00000402703.6
      Conserved Domains (1) summary
      cd00131
      Location:6131
      PAX; Paired Box domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      36657568..36679362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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