PAX8

Paired box 8
PDB rendering based on 1k78.
Available structures PDB 1k78, 1mdm
Identifiers
Symbols	PAX8;
External IDs	OMIM: 167415 MGI: 97492 HomoloGene: 2589 GeneCards: PAX8 Gene
Gene Ontology Molecular function • RNA polymerase II core promoter sequence-specific DNA binding • DNA binding • DNA binding • sequence-specific DNA binding transcription factor activity • thyroid-stimulating hormone receptor activity • protein binding • sequence-specific DNA binding • transcription regulatory region DNA binding Cellular component • nucleus • nucleoplasm • nucleolus Biological process • urogenital system development • branching involved in ureteric bud morphogenesis • kidney development • mesonephros development • mesenchymal to epithelial transition involved in metanephros morphogenesis • transcription, DNA-dependent • transcription, DNA-dependent • regulation of transcription, DNA-dependent • multicellular organismal development • central nervous system development • anatomical structure morphogenesis • cell differentiation • thyroid gland development • thyroid gland development • pronephric field specification • regulation of apoptosis • positive regulation of transcription, DNA-dependent • positive regulation of transcription, DNA-dependent • positive regulation of transcription from RNA polymerase II promoter • pronephros development • cellular response to gonadotropin stimulus • otic vesicle development • positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis • metanephric collecting duct development • metanephric epithelium development • metanephric distal convoluted tubule development • metanephric comma-shaped body morphogenesis • metanephric S-shaped body morphogenesis • metanephric nephron tubule formation • negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis • regulation of metanephric nephron tubule epithelial cell differentiation • positive regulation of branching involved in ureteric bud morphogenesis • positive regulation of metanephric DCT cell differentiation • positive regulation of thyroid hormone generation • regulation of thyroid-stimulating hormone secretion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7849	18510
Ensembl	ENSG00000125618	ENSMUSG00000026976
UniProt	Q06710	Q6GU20
RefSeq (mRNA)	NM_003466.3	NM_011040.3
RefSeq (protein)	NP_003457.1	NP_035170.1
Location (UCSC)	Chr 2: 113.97 – 114.04 Mb	Chr 2: 24.28 – 24.33 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]

Function

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.

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]

Interactions

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

See also

• Pax genes

References

1. ^ ^{a b} "Entrez Gene: PAX8 paired box gene 8". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7849. 
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

• 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. PMC 364662. PMID 8413205. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=364662. 
• 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. PMC 1220333. PMID 10377248. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1220333. 
• 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. PMC 86614. PMID 11134340. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=86614. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 

External links

• MeSH PAX8+protein,+human
• "Xenbase Gene: Summary for pax8, species: Xenopus tropicalis". Xenbase. xenbase.org. http://xenbase.org/gene/showgene.do?method=displayGeneSummary&geneId=483692. Retrieved 2009-07-17. "A Xenopus laevis and tropicalis resource" 

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