From Wikipedia, the free encyclopedia
Jump to: navigation, search
Paired box 8
Protein PAX8 PDB 1k78.png
PDB rendering based on 1k78.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbol PAX8
External IDs OMIM167415 MGI97492 HomoloGene2589 GeneCards: PAX8 Gene
RNA expression pattern
PBB GE PAX8 121 at tn.png
PBB GE PAX8 207921 x at tn.png
PBB GE PAX8 207923 x at tn.png
More reference expression data
Species Human Mouse
Entrez 7849 18510
Ensembl ENSG00000125618 ENSMUSG00000026976
UniProt Q06710 Q00288
RefSeq (mRNA) NM_003466 NM_011040
RefSeq (protein) NP_003457 NP_035170
Location (UCSC) Chr 2:
113.97 – 114.04 Mb
Chr 2:
24.42 – 24.48 Mb
PubMed search [1] [2]

Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[1]


This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Also functions in very early stages of kidney organogenesis, the mullerian system, and the thymus. (

Clinical significance[edit]

Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1] A fusion protein, PAX8-PPAR-γ, is implicated in some follicular thyroid carcinomas and follicular-variant papillary thyroid carcinoma (


PAX8 has been shown to interact with NK2 homeobox 1.[2]

See also[edit]


  1. ^ a b "Entrez Gene: PAX8 paired box gene 8". 
  2. ^ Di Palma, Tina; Nitsch Roberto; Mascia Anna; Nitsch Lucio; Di Lauro Roberto; Zannini Mariastella (Jan 2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". J. Biol. Chem. (United States) 278 (5): 3395–402. doi:10.1074/jbc.M205977200. ISSN 0021-9258. PMID 12441357. 

3. pax8 gene expression data and interactants in Xenopus from Xenbase [3]

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.