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Paired box gene 8

PDB rendering based on 1k78.
Available structures
1k78, 1mdm
Symbols 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 Q6GU20
RefSeq (mRNA) NM_003466 NM_011040
RefSeq (protein) NP_003457 NP_035170
Location (UCSC) Chr 2:
113.69 - 113.72 Mb
Chr 2:
24.24 - 24.3 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.

Clinical significance

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]


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

See also


  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.  

Further reading

  • Poleev A, Fickenscher H, Mundlos S, et al. (1993). "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors.". Development 116 (3): 611–23. PMID 1337742.  
  • Poleev A, Wendler F, Fickenscher H, et al. (1995). "Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors.". Eur. J. Biochem. 228 (3): 899–911. doi:10.1111/j.1432-1033.1995.tb20338.x. PMID 7737192.  
  • Stapleton P, Weith A, Urbánek P, et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.  
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.  
  • Kozmik Z, Kurzbauer R, Dörfler P, Busslinger M (1993). "Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties.". Mol. Cell. Biol. 13 (10): 6024–35. PMID 8413205.  
  • Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes.". Mamm. Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641.  
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.  
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.  
  • Fraizer GC, Shimamura R, Zhang X, Saunders GF (1998). "PAX 8 regulates human WT1 transcription through a novel DNA binding site.". J. Biol. Chem. 272 (49): 30678–87. doi:10.1074/jbc.272.49.30678. PMID 9388203.  
  • Macchia PE, Lapi P, Krude H, et al. (1998). "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.". Nat. Genet. 19 (1): 83–6. doi:10.1038/ng0598-83. PMID 9590296.  
  • Mansouri A, Chowdhury K, Gruss P (1998). "Follicular cells of the thyroid gland require Pax8 gene function.". Nat. Genet. 19 (1): 87–90. doi:10.1038/ng0598-87. PMID 9590297.  
  • Tell G, Pellizzari L, Esposito G, et al. (1999). "Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.". Biochem. J. 341 ( Pt 1): 89–93. doi:10.1042/0264-6021:3410089. PMID 10377248.  
  • De Leo R, Miccadei S, Zammarchi E, Civitareale D (2000). "Role for p300 in Pax 8 induction of thyroperoxidase gene expression.". J. Biol. Chem. 275 (44): 34100–5. doi:10.1074/jbc.M003043200. PMID 10924503.  
  • Roberts EC, Deed RW, Inoue T, et al. (2001). "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding.". Mol. Cell. Biol. 21 (2): 524–33. doi:10.1128/MCB.21.2.524-533.2001. PMID 11134340.  
  • Vilain C, Rydlewski C, Duprez L, et al. (2001). "Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.". J. Clin. Endocrinol. Metab. 86 (1): 234–8. doi:10.1210/jc.86.1.234. PMID 11232006.  
  • Congdon T, Nguyen LQ, Nogueira CR, et al. (2001). "A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.". J. Clin. Endocrinol. Metab. 86 (8): 3962–7. doi:10.1210/jc.86.8.3962. PMID 11502839.  
  • Miccadei S, De Leo R, Zammarchi E, et al. (2002). "The synergistic activity of thyroid transcription factor 1 and Pax 8 relies on the promoter/enhancer interplay.". Mol. Endocrinol. 16 (4): 837–46. doi:10.1210/me.16.4.837. PMID 11923479.  
  • Marques AR, Espadinha C, Catarino AL, et al. (2002). "Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas.". J. Clin. Endocrinol. Metab. 87 (8): 3947–52. doi:10.1210/jc.87.8.3947. PMID 12161538.  
  • Di Palma T, Nitsch R, Mascia A, et al. (2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription.". J. Biol. Chem. 278 (5): 3395–402. doi:10.1074/jbc.M205977200. PMID 12441357.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  

External links

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



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