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PAX9 paired box 9 [ Homo sapiens (human) ]

Gene ID: 5083, updated on 12-Aug-2018

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; 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]
Expression
Biased expression in esophagus (RPKM 29.7), salivary gland (RPKM 11.4) and 1 other tissue See more
Orthologs

Genomic context

See PAX9 in Genome Data Viewer
Location:
14q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of odontogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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)

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
    ENSP00000384817.2, ENST00000402703.6
    Conserved Domains (1) summary
    cd00131
    Location:6131
    PAX; Paired Box domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

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