PAX8

Paired box gene 8
File:PBB Protein PAX8 image.jpg PDB rendering based on 1k78.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1k78​, 1mdm​
Identifiers
Symbols	PAX8 ;
External IDs	Template:OMIM5 Template:MGI HomoloGene: 2589
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PAX8 121 at tn.png
File:PBB GE PAX8 207921 x at tn.png
File:PBB GE PAX8 207923 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Paired box gene 8, also known as PAX8, is a human gene.

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. 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.

See also

• Pax genes

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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7737192.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 8431641.CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9388203.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 10377248.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11232006.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11502839.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11923479.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12161538.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• PAX8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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