PAX4

Paired box 4
Identifiers
Symbols	PAX4; KPD; MGC129960; MODY9
External IDs	OMIM: 167413 MGI: 97488 HomoloGene: 4515 GeneCards: PAX4 Gene
Gene Ontology Molecular function • DNA binding • sequence-specific DNA binding transcription factor activity • sequence-specific DNA binding Cellular component • nucleus • nucleolus Biological process • multicellular organismal development • organ morphogenesis • cell differentiation • endocrine pancreas development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5078	18506
Ensembl	ENSG00000106331	ENSMUSG00000029706
UniProt	O43316	Q9EQ02
RefSeq (mRNA)	NM_006193	NM_011038
RefSeq (protein)	NP_006184	NP_035168
Location (UCSC)	Chr 7: 127.25 – 127.26 Mb	Chr 6: 28.39 – 28.4 Mb
PubMed search	[1]	[2]

Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.

Function

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. The paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.

See also

• Pax genes
• Maturity onset diabetes of the young type 9

Further reading

• Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A (August 2009). "The ectopic expression of Pax4 in the mouse pancreas converts progenitor cells into alpha and subsequently beta cells". Cell 138 (3): 449–62. doi:10.1016/j.cell.2009.05.035. PMC 2792203. PMID 19665969. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2792203. 

• Sosa-Pineda B (2005). "The gene Pax4 is an essential regulator of pancreatic beta-cell development". Mol. Cells 18 (3): 289–94. PMID 15650323. 
• 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. 
• Tamura T, Izumikawa Y, Kishino T et al (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization". Cytogenet. Cell Genet. 66 (2): 132–4. doi:10.1159/000133684. PMID 8287686. 
• 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. 
• Matsushita T, Yamaoka T, Otsuka S et al (1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631. 
• Inoue H, Nomiyama J, Nakai K et al (1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859. 
• Bonthron DT, Dunlop N, Barr DG et al (1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome". J. Med. Genet. 35 (4): 288–92. doi:10.1136/jmg.35.4.288. PMC 1051275. PMID 9598721. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1051275. 
• Tao T, Wasson J, Bernal-Mizrachi E et al (1998). "Isolation and characterization of the human PAX4 gene". Diabetes 47 (10): 1650–3. doi:10.2337/diabetes.47.10.1650. PMID 9753306. 
• Smith SB, Watada H, Scheel DW et al (2001). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter". J. Biol. Chem. 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107. 
• Miyamoto T, Kakizawa T, Ichikawa K et al (2001). "Expression of dominant negative form of PAX4 in human insulinoma". Biochem. Biophys. Res. Commun. 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967. 
• Shimajiri Y, Sanke T, Furuta H et al (2001). "A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese". Diabetes 50 (12): 2864–9. doi:10.2337/diabetes.50.12.2864. PMID 11723072. 
• Kanatsuka A, Tokuyama Y, Nozaki O et al (2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metab. Clin. Exp. 51 (9): 1161–5. doi:10.1053/meta.2002.34707. PMID 12200761. 
• 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. 
• Shimajiri Y, Shimabukuro M, Tomoyose T et al (2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans". Biochem. Biophys. Res. Commun. 302 (2): 342–4. doi:10.1016/S0006-291X(03)00176-1. PMID 12604352. 
• Scherer SW, Cheung J, MacDonald JR et al (2003). "Human chromosome 7: DNA sequence and biology". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2882961. 
• Kemp DM, Lin JC, Habener JF (2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor". J. Biol. Chem. 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700. 
• Holm P, Rydlander B, Luthman H et al (2004). "Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families". Diabetes 53 (6): 1584–91. doi:10.2337/diabetes.53.6.1584. PMID 15161765. 
• Gerhard DS, Wagner L, Feingold EA et al (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Brun T, Franklin I, St-Onge L, et al. (2005). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.". J. Cell Biol. 167 (6): 1123–35. doi:10.1083/jcb.200405148. PMID 15596543. 

External links

• MeSH PAX4+protein,+human

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