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    PAX9 paired box 9 [ Homo sapiens (human) ]

    Gene ID: 5083, updated on 12-Mar-2017
    Official Symbol
    PAX9provided by HGNC
    Official Full Name
    paired box 9provided by HGNC
    Primary source
    HGNC:HGNC:8623
    See related
    Ensembl:ENSG00000198807 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. 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]
    Orthologs
    Location:
    14q13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (36657568..36677807)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (37126773..37147012)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 257 Neighboring gene NK2 homeobox 8 Neighboring gene uncharacterized LOC105370455 Neighboring gene solute carrier family 25 member 21 Neighboring gene uncharacterized LOC107984668 Neighboring gene microRNA 4503

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Tooth agenesis, selective, 3
    MedGen: C1970291 OMIM: 604625 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-21)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-21)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    paired box protein Pax-9
    Names
    paired domain gene 9

    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_006194.3NP_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, ENST00000402703
      Conserved Domains (1) summary
      cd00131
      Location:6131
      PAX; Paired Box domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      36657568..36677807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      37125895..37146158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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