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PAX9 paired box 9 [ Homo sapiens (human) ]

Gene ID: 5083, updated on 22-Dec-2014
Official Symbol
PAX9provided by HGNC
Official Full Name
paired box 9provided by HGNC
Primary source
HGNC:HGNC:8623
See related
Ensembl:ENSG00000198807; HPRD:01336; 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. 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]
See PAX9 in Epigenomics, MapViewer
Location:
14q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC102723434 Neighboring gene uncharacterized LOC101927291 Neighboring gene solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 Neighboring gene microRNA 4503 Neighboring gene SLC25A21 antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
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 (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
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, DNA-templated 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 box protein Pax-9
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 

    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 proteins identical to 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 (2) summary
    cd00131
    Location:6131
    PAX; Paired Box domain
    pfam13551
    Location:26128
    HTH_29; Winged helix-turn helix

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

mRNA and Protein(s)

  1. XM_006720155.1XP_006720218.1  

    Conserved Domains (2) summary
    cd00131
    Location:6131
    PAX; Paired Box domain
    pfam13551
    Location:26128
    HTH_29; Winged helix-turn helix

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

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

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    17241127..17261385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)