PAX4

Paired box 4
Identifiers
Symbols	PAX4 ; KPD; MODY9
External IDs	OMIM: 167413 MGI: 97488 HomoloGene: 4515 GeneCards: PAX4 Gene
Gene ontology Molecular function • RNA polymerase II distal enhancer sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding • DNA binding • double-stranded DNA binding Cellular component • nucleoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • circadian rhythm • organ morphogenesis • cell differentiation • endocrine pancreas development • response to drug • negative regulation of apoptotic process • positive regulation of cell differentiation • response to cAMP • retina development in camera-type eye Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5078	18506
Ensembl	ENSG00000106331	ENSMUSG00000029706
UniProt	O43316	P32115
RefSeq (mRNA)	NM_006193	NM_001159925
RefSeq (protein)	NP_006184	NP_001153397
Location (UCSC)	Chr 7: 127.61 – 127.62 Mb	Chr 6: 28.44 – 28.45 Mb
PubMed search

Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.^[1][2][3]

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.^[1]

See also

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

References

1. "Entrez Gene: PAX4 paired box gene 4".
2. Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochemical and Biophysical Research Communications 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
3. Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochemical and Biophysical Research Communications 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.

Further reading

• Al-Hasani K, Pfeifer A, Courtney M, Ben-Othman N, Gjernes E, Vieira A, Druelle N, Avolio F, Ravassard P, Leuckx G, Lacas-Gervais S, Ambrosetti D, Benizri E, Hecksher-Sorensen J, Gounon P, Ferrer J, Gradwohl G, Heimberg H, Mansouri A, Collombat P (Jul 2013). "Adult duct-lining cells can reprogram into β-like cells able to counter repeated cycles of toxin-induced diabetes". Developmental Cell 26 (1): 86–100. doi:10.1016/j.devcel.2013.05.018. PMID 23810513.
• Collombat P, Xu X, Ravassard P, Sosa-Pineda B, Dussaud S, Billestrup N, Madsen OD, Serup P, Heimberg H, Mansouri A (Aug 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.
• Sosa-Pineda B (Dec 2004). "The gene Pax4 is an essential regulator of pancreatic beta-cell development". Molecules and Cells 18 (3): 289–94. PMID 15650323.
• Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
• Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization". Cytogenetics and Cell Genetics 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". Mammalian Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641.
• Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochemical and Biophysical Research Communications 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
• Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochemical and Biophysical Research Communications 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.
• Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI (Apr 1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome". Journal of Medical Genetics 35 (4): 288–92. doi:10.1136/jmg.35.4.288. PMC 1051275. PMID 9598721.
• Tao T, Wasson J, Bernal-Mizrachi E, Behn PS, Chayen S, Duprat L, Meyer J, Glaser B, Permutt MA (Oct 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, Mrejen C, German MS (Nov 2000). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter". The Journal of Biological Chemistry 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107.
• Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K (Mar 2001). "Expression of dominant negative form of PAX4 in human insulinoma". Biochemical and Biophysical Research Communications 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967.
• Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K (Dec 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, Matsui K, Egashira T (Sep 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metabolism 51 (9): 1161–5. doi:10.1053/meta.2002.34707. PMID 12200761.
• Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N (Mar 2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans". Biochemical and Biophysical Research Communications 302 (2): 342–4. doi:10.1016/S0006-291X(03)00176-1. PMID 12604352.
• Kemp DM, Lin JC, Habener JF (Sep 2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor". The Journal of Biological Chemistry 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700.
• Holm P, Rydlander B, Luthman H, Kockum I (Jun 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.
• Brun T, Franklin I, St-Onge L, Biason-Lauber A, Schoenle EJ, Wollheim CB, Gauthier BR (Dec 2004). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets". The Journal of Cell Biology 167 (6): 1123–35. doi:10.1083/jcb.200405148. PMC 2172618. PMID 15596543.

External links

• PAX4 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.