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PAX4
Identifiers
Aliases	PAX4, KPD, MODY9, paired box 4
External IDs	OMIM: 167413; MGI: 97488; HomoloGene: 4515; GeneCards: PAX4; OMA:PAX4 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	127,618,142 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	28,449,352 bp
RNA expression pattern
	Top expressed in
	testicle; ; rectum; ; mucosa of transverse colon; ; duodenum; ; tibialis anterior muscle; ; deltoid muscle; ; islet of Langerhans; ; developmental structure; ; embryo; ; ganglionic eminence;
	Top expressed in
	entorhinal cortex; ; CA3 field; ; perirhinal cortex; ; embryo; ; embryo; ; medulla oblongata; ; inner muscle layer; ; ureter; ; lens; ; duodenum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA binding; sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding;
Cellular component	nucleoplasm; nucleus;
Biological process	cell differentiation; regulation of transcription, DNA-templated; negative regulation of apoptotic process; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated; multicellular organism development; retina development in camera-type eye; circadian rhythm; positive regulation of cell differentiation; animal organ morphogenesis; regulation of cell differentiation; response to cAMP; negative regulation of transcription, DNA-templated; endocrine pancreas development; pancreas development;
	Sources:Amigo / QuickGO
Orthologs
	5078
	18506
	ENSG00000106331
	ENSMUSG00000029706
	O43316; Q3KNR5
	P32115
	NM_006193; NM_001366110; NM_001366111
	NM_001159925; NM_001159926; NM_011038
	NP_006184; NP_001353039; NP_001353040
	NP_001153397; NP_001153398; NP_035168
	Wikidata
View/Edit Human	View/Edit Mouse

Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.^[5]^[6]^[7]

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.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000106331 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029706 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: PAX4 paired box gene 4".
^ 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.

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. hdl:11858/00-001M-0000-0014-3C2F-6. 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. doi:10.1016/S1016-8478(23)13114-1. 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. S2CID 21338655.
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. S2CID 30845070.
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.