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PAX6 (paired box 6)

Written2009-08Yi-Hong Zhou
Department of Neurological Surgery, Department of Biological Chemistry (joint), University of California, Irvine, Med Sci I, Room C214, Irvine, CA 92697, USA

(Note : for Links provided by Atlas : click)


Alias_symbol (synonym)D11S812E
Other aliasMGC17209
HGNC (Hugo) PAX6
LocusID (NCBI) 5080
Atlas_Id 211
Location 11p13  [Link to chromosome band 11p13]
Location_base_pair Starts at 31784792 and ends at 31811353 bp from pter ( according to hg19-Feb_2009)  [Mapping PAX6.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PAX6 (11p13) / CTNNA1 (5q31.2)PAX6 (11p13) / PAX6 (11p13)


Description The PAX6 coding region extends over a genomic interval of 16-17 kb and comprise 10 (isoform a) and 11 exons (isoform b).
Transcription Three transcripts have been identified, originating from alternative promoter usage (variant 3) or alternative splicing (variant 2, additional in-frame coding 42 bp exon downstream of exon 5 of variant 1); transcription is from centromere to telomere.


  There are two isoforms of PAX6, PAX6a and PAX6b with additional 14 extra amino acids in the paired box DNA binding domain. PAX6a, 423 amino acids, ~47 kDa; PAX6b, 436 amino acids, ~49 kDa.
Description PAX6 belongs to the paired box family of transcription factors, contains two DNA binding domains, a paired box (PD) and a paired-type homeodomain (HD), and a carboxyl-terminal transactivation domain rich of proline, serine, and threonine (PST).
Expression PAX6, predominately in form of PAX6a, is expressed in the developing sensory organs (including eye, nasal and olfactory tissues), central nervous system (including forebrain, hindbrain, and spinal cord), and endocrine system (including anterior pituitary gland and pancreas) in human and rodent (Walther and Gruss., 1991; Stoykova and Gruss., 1994; Davis and Reed., 1996; Terzic and Saraga-Babic., 1999; Pinson et al., 2005). PAX6 expression is sustained into adulthood in certain areas of the brain, including, hippocampal dentate gyrus (Maekawa et al., 2005; Nacher et al., 2005), ependymal layer and the subventricular zone of the lateral ventricle (Hack et al., 2005; Kohwi et al., 2005), radial glia-like cells (Gubert et al., 2009), and in mature endocrine cells in pancreas (St-Onge et al., 1997). PAX6 transcription is regulated by two promoters, P0 and P1, which are remarkably conserved in evolution in both of their nucleotide sequence arrangement and functional control of special and temporal expression of PAX6 in development (Xu and Saunders, 1997; Okladnova et al., 1998a; Williams et al., 1998; Xu and Saunders, 1998; Kammandel et al., 1999; Plaza et al., 1999a; Xu et al., 1999; Tyas et al., 2006), involving multiple transcription factors, such as POU factor Brn-3B, TFCP2, SP1, the basic helix-loop-helix transcription factor NeuroD/BETA2, CCCTC binding factor CTCF, PPARgamma (Plaza et al., 1999b; Zheng et al., 2001; Schinner et al., 2002; Marsich et al., 2003; Li et al., 2006; Wu et al., 2006). PAX6 expression is also regulated by a long range downstream enhancer (Kleinjan et al., 2006) and is under autoregulation (Grocott et al., 2007) and post modification by HIPK2 and protein phosphatase 1 (Kim et al., 2006; Yan et al., 2007). A promoter-associated polymorphic repeat was found to modulate PAX6 expression in human brain (Okladnova et al., 1998b).
Localisation Nuclear.
Function Loss of Pax6 function in rodent mutant and knock-out model revealed that Pax6 is a key regulator of a multitude of developmental processes of sensory system, including eye, nasal and olfactory (Hill et al., 1991; Grindley et al., 1995; Quinn et al., 1996; van Raamsdonk and Tilghman, 2000; Singh et al., 2002; van Heyningen and Williamson, 2002; Collinson et al., 2003; Davis et al., 2003; Brill et al., 2008), CNS (Matsuo et al., 1993; Schmahl et al., 1993; Stoykova et al., 1996; Grindley et al., 1997; Osumi et al., 1997; Mastick et al., 1997; Warren and Price, 1997; Gotz et al., 1998; Sun et al., 1998; Engelkamp et al., 1999; Kawano et al., 1999; Pratt et al., 2000; Stoykova et al., 2000; Estivill-Torrus et al., 2002; Pratt et al., 2002; Talamillo et al., 2003; Quinn et al., 2007), pituitary (Bentley et al., 1999; Kioussi et al., 1999) and pancreas (Sander et al., 1997; St-Onge et al., 1997; Dohrmann et al., 2000; Zhang et al., 2003). Pax6 function in development of fundamental sensory processes and central nervous system, particularly of the photoreceptive organ, are remarkably conserved in evolution (Halder et al., 1995; Gehring et al., 2005). PAX6 funciton in development were found to be under control of Shh, notch and EGFR signaling (Ericson et al., 1997; Kumar and Moses, 2001; Onuma et al., 2002; Li and Lu, 2005), essential for neural stem cell proliferation, multipotency, and neurogenesis in many regions of the central nervous system (Warren et al., 1999; Bishop et al., 2000; Toresson et al., 2000; Marquardt et al., 2001; Yamasaki et al., 2001; Yun et al., 2001; Estivill-Torrus et al., 2002; Heins et al., 2002; Simpson and Price, 2002; Tyas et al., 2003; Collinson et al., 2004; Haubst et al., 2004; Nomura and Osumi, 2004; Schuurmans et al., 2004; Maekawa et al., 2005; Bel-Vialar et al., 2007; Duparc et al., 2007; Quinn et al., 2007; Canto-Soler et al., 2008; Oron-Karni et al., 2008; Osumi et al., 2008), and appears to control the balance between neural stem cell self-renewal and neurogenesis under a dose-dependent manner (Sansom et al., 2009).
PAX6 binds as a monomer to relatively long (15-22 bp) DNA binding sites, and the 14 aa insertion in the paired domain allows different binding affinity to DNA sequences between PAX6a and PAX6b (Epstein et al., 1994a; Epstein et al., 1994b). Through binding to different DNA sequences via usage of various DNA binding motifs alone or in combination, PAX6 controls the expression of various downstream target genes involved in complex gene regulatory networks for cell proliferation, adhesion, migration, and neurogenesis (Schmahl et al., 1993; Caric et al., 1997; Sander et al., 1997; Sax et al., 1997; Tang et al., 1997; Duncan et al., 1998; Beimesche et al., 1999; Meech et al., 1999; Singh et al., 2000; Sivak et al., 2000; Zhou et al., 2000; Chauhan et al., 2002; Mishra et al., 2002; Skala-Rubinson et al., 2002; Zhou et al., 2002; Andrews and Mastick, 2003; Davis et al., 2003; Horie et al., 2003; Tyas et al., 2003; Cvekl et al., 2004; Grinchuk et al., 2005; Mayes et al., 2006; Holm et al., 2007; Tuoc and Stoykova, 2008). Not only reduced, but also increases level of PAX6 gene dosage also cause defects in developmental processes that are sensitive to PAX6 dosage, including eye organogenesis and corticogenesis (Schedl et al., 1996; Berger et al., 2007; Manuel et al., 2007).
Homology PAX6 shares homology through the conserved paired box domain with the other members of the nine PAX gene family.


Germinal Heterozygous intragenic mutation of PAX6, that causes loss of function of one copy of the PAX6 gene, is the cause of aniridia syndrome (Ton et al., 1991; Glaser et al., 1992; Prosser and van Heyningen, 1998; Robinson et al., 2008; Hingorani et al., 2009; MRC Human Genetics Unit) and cerebral malformation, olfactory dysfunction, absence of the pineal gland and unilateral polymicrogyria (Sisodiya et al., 2001; Free et al., 2003; Mitchell et al., 2003; Bamiou et al., 2007a; Bamiou et al., 2007b).
PAX6 3' deletion also results in aniridia, autism and mental retardation (Davis et al., 2008).

Implicated in

Entity Brain cancer
Note The expression level of PAX6 in human glioma cell lines was shown to be negatively associated with the degree of tumorigenicity. PAX6 expression level is lower in glioblastoma compared to the adjacent normal tissue and to the anaplastic astrocytoma previously formed in the same patient (Zhou et al., 2003). Ectopic expression of PAX6 in glioma cell lines suppressed cell anchorage independent growth, ability to survive under oxidative stress induced by cell detachment, ability to invade partially by suppression of MMP2 gene expression, ability to induce angiogenesis by initiating a new signaling pathway independent of PI3K/Akt-HIF1A signaling to suppress VEGFA, and overall tumor growth after intracranial implantation in immunocompromised mouse brain (Zhou et al., 2005; Mayes et al., 2006; Chang et al., 2007; Zhou et al., 2009). Mutation analysis for PAX6 in gliomas failed to identify PAX6 mutation in its coding and regulating regions, suggesting involvement of epigenetic mechanisms in the silencing of PAX6 in glioma (Pinto et al., 2007). PAX6 expression is activated in glioma cell line with re-introduction of a normal ch.10, suggesting that PAX6 is regulated by a gene(s) on ch.10 (Zhou et al., 2005).
Prognosis PAX6 is a factor related to a longer survival prognosis for astrocytic gliomas (Zhou et al., 2003).
Entity Pancreatic cancer
Note PAX6 is expressed in pancreatic adenocarcinoma and is downregulated during induction of terminal differentiation (Lang et al., 2008). In pancreatic carcinoma cell lines, PAX6 bind directly to an enhancer element in the MET promoter and activate the expression of the MET gene (Mascarenhas et al., 2009).
Entity Bladder cancer
Note Methylation of PAX6-promoters is increased in early bladder cancer and in normal mucosa adjacent to pTa tumours (Hellwinkel et al., 2008).
Entity Familial adenomatous polyposis (FAP) related carcinoma
Note PAX6 gene is methylated in FAP-related carcinoma. Patients with familial adenomatous polyposis (FAP) have a high risk of developing duodenal carcinomas (Berkhout et al., 2007).
Entity WAGR syndrome
Note WAGR syndrome can have aniridia due to deletion of chromosome 11 including PAX6 (Gronskov et al., 2001; Chao et al., 2003). However, PAX6 mutation is only found in aniridia patient, not WAGR syndrome associated anomalies (Robinson et al., 2008).


R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons.
Andrews GL, Mastick GS.
J Neurosci. 2003 Oct 29;23(30):9873-80.
PMID 14586016
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation.
Bamiou DE, Campbell NG, Musiek FE, Taylor R, Chong WK, Moore A, van Heyningen V, Free S, Sisodiya S, Luxon LM.
Int J Audiol. 2007a Apr;46(4):196-202.
PMID 17454233
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.
Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM.
Arch Pediatr Adolesc Med. 2007b May;161(5):463-9.
PMID 17485622
Tissue-specific transcriptional activity of a pancreatic islet cell-specific enhancer sequence/Pax6-binding site determined in normal adult tissues in vivo using transgenic mice.
Beimesche S, Neubauer A, Herzig S, Grzeskowiak R, Diedrich T, Cierny I, Scholz D, Alejel T, Knepel W.
Mol Endocrinol. 1999 May;13(5):718-28.
PMID 10319322
The on/off of Pax6 controls the tempo of neuronal differentiation in the developing spinal cord.
Bel-Vialar S, Medevielle F, Pituello F.
Dev Biol. 2007 May 15;305(2):659-73. Epub 2007 Feb 16.
PMID 17399698
Pax6 is implicated in murine pituitary endocrine function.
Bentley CA, Zidehsarai MP, Grindley JC, Parlow AF, Barth-Hall S, Roberts VJ.
Endocrine. 1999 Apr;10(2):171-7.
PMID 10451227
Conditional activation of Pax6 in the developing cortex of transgenic mice causes progenitor apoptosis.
Berger J, Berger S, Tuoc TC, D'Amelio M, Cecconi F, Gorski JA, Jones KR, Gruss P, Stoykova A.
Development. 2007 Apr;134(7):1311-22. Epub 2007 Feb 28.
PMID 17329367
Chromosomal and methylation alterations in sporadic and familial adenomatous polyposis-related duodenal carcinomas.
Berkhout M, Nagtegaal ID, Cornelissen SJ, Dekkers MM, van de Molengraft FJ, Peters WH, Nagengast FM, van Krieken JH, Jeuken JW.
Mod Pathol. 2007 Dec;20(12):1253-62. Epub 2007 Sep 14.
PMID 17873900
Regulation of area identity in the mammalian neocortex by Emx2 and Pax6.
Bishop KM, Goudreau G, O'Leary DD.
Science. 2000 Apr 14;288(5464):344-9.
PMID 10764649
A dlx2- and pax6-dependent transcriptional code for periglomerular neuron specification in the adult olfactory bulb.
Brill MS, Snapyan M, Wohlfrom H, Ninkovic J, Jawerka M, Mastick GS, Ashery-Padan R, Saghatelyan A, Berninger B, Gotz M.
J Neurosci. 2008 Jun 18;28(25):6439-52.
PMID 18562615
Transcription factors CTCF and Pax6 are segregated to different cell types during retinal cell differentiation.
Canto-Soler MV, Huang H, Romero MS, Adler R.
Dev Dyn. 2008 Mar;237(3):758-67.
PMID 18224715
Determination of the migratory capacity of embryonic cortical cells lacking the transcription factor Pax-6.
Caric' D, Gooday D, Hill RE, McConnell SK, Price DJ.
Development. 1997 Dec;124(24):5087-96.
PMID 9362466
PAX6 increases glioma cell susceptibility to detachment and oxidative stress.
Chang JY, Hu Y, Siegel E, Stanley L, Zhou YH.
J Neurooncol. 2007 Aug;84(1):9-19. Epub 2007 Feb 21.
PMID 17318412
Missense mutations in the DNA-binding region and termination codon in PAX6.
Chao LY, Mishra R, Strong LC, Saunders GF.
Hum Mutat. 2003 Feb;21(2):138-45.
PMID 12552561
A comparative cDNA microarray analysis reveals a spectrum of genes regulated by Pax6 in mouse lens.
Chauhan BK, Reed NA, Yang Y, Cermak L, Reneker L, Duncan MK, Cvekl A.
Genes Cells. 2002 Dec;7(12):1267-83.
PMID 12485166
Corneal development, limbal stem cell function, and corneal epithelial cell migration in the Pax6(+/-) mouse.
Collinson JM, Chanas SA, Hill RE, West JD.
Invest Ophthalmol Vis Sci. 2004 Apr;45(4):1101-8.
PMID 15037575
Regulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens.
Cvekl A, Yang Y, Chauhan BK, Cveklova K.
Int J Dev Biol. 2004;48(8-9):829-44. (REVIEW)
PMID 15558475
Requirement for Pax6 in corneal morphogenesis: a role in adhesion.
Davis J, Duncan MK, Robison WG Jr, Piatigorsky J.
J Cell Sci. 2003 Jun 1;116(Pt 11):2157-67. Epub 2003 Apr 8.
PMID 12692153
Role of Olf-1 and Pax-6 transcription factors in neurodevelopment.
Davis JA, Reed RR.
J Neurosci. 1996 Aug 15;16(16):5082-94.
PMID 8756438
Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH.
Hum Genet. 2008 May;123(4):371-8. Epub 2008 Mar 6.
PMID 18322702
Pax genes and the differentiation of hormone-producing endocrine cells in the pancreas.
Dohrmann C, Gruss P, Lemaire L.
Mech Dev. 2000 Mar 15;92(1):47-54. (REVIEW)
PMID 10704887
Dual roles for Pax-6: a transcriptional repressor of lens fiber cell-specific beta-crystallin genes.
Duncan MK, Haynes JI 2nd, Cvekl A, Piatigorsky J.
Mol Cell Biol. 1998 Sep;18(9):5579-86.
PMID 9710641
Pax6 controls the proliferation rate of neuroepithelial progenitors from the mouse optic vesicle.
Duparc RH, Abdouh M, David J, Lepine M, Tetreault N, Bernier G.
Dev Biol. 2007 Jan 15;301(2):374-87. Epub 2006 Nov 10.
PMID 17157287
Role of Pax6 in development of the cerebellar system.
Engelkamp D, Rashbass P, Seawright A, van Heyningen V.
Development. 1999 Aug;126(16):3585-96.
PMID 10409504
Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes.
Epstein J, Cai J, Glaser T, Jepeal L, Maas R.
J Biol Chem. 1994a Mar 18;269(11):8355-61.
PMID 8132558
Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.
Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RL.
Genes Dev. 1994b Sep 1;8(17):2022-34.
PMID 7958875
Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling.
Ericson J, Rashbass P, Schedl A, Brenner-Morton S, Kawakami A, van Heyningen V, Jessell TM, Briscoe J.
Cell. 1997 Jul 11;90(1):169-80.
PMID 9230312
Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors.
Estivill-Torrus G, Pearson H, van Heyningen V, Price DJ, Rashbass P.
Development. 2002 Jan;129(2):455-66.
PMID 11807037
Quantitative MR image analysis in subjects with defects in the PAX6 gene.
Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM.
Neuroimage. 2003 Dec;20(4):2281-90.
PMID 14683729
New perspectives on eye development and the evolution of eyes and photoreceptors.
Gehring WJ.
J Hered. 2005 May-Jun;96(3):171-84. Epub 2005 Jan 13.
PMID 15653558
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
Glaser T, Walton DS, Maas RL.
Nat Genet. 1992 Nov;2(3):232-9.
PMID 1345175
Pax6 controls radial glia differentiation in the cerebral cortex.
Gotz M, Stoykova A, Gruss P.
Neuron. 1998 Nov;21(5):1031-44.
PMID 9856459
The Optimedin gene is a downstream target of Pax6.
Grinchuk O, Kozmik Z, Wu X, Tomarev S.
J Biol Chem. 2005 Oct 21;280(42):35228-37. Epub 2005 Aug 22.
PMID 16115881
Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon.
Grindley JC, Hargett LK, Hill RE, Ross A, Hogan BL.
Mech Dev. 1997 Jun;64(1-2):111-26.
PMID 9232602
The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter.
Grocott T, Frost V, Maillard M, Johansen T, Wheeler GN, Dawes LJ, Wormstone IM, Chantry A.
Nucleic Acids Res. 2007;35(3):890-901. Epub 2007 Jan 23.
PMID 17251190
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
Gronskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brondum-Nielsen K, Rosenberg T.
Hum Genet. 2001 Jul;109(1):11-8.
PMID 11479730
Radial glia-like cells persist in the adult rat brain.
Gubert F, Zaverucha-do-Valle C, Pimentel-Coelho PM, Mendez-Otero R, Santiago MF.
Brain Res. 2009 Mar 3;1258:43-52. Epub 2008 Dec 24.
PMID 19124008
Neuronal fate determinants of adult olfactory bulb neurogenesis.
Hack MA, Saghatelyan A, de Chevigny A, Pfeifer A, Ashery-Padan R, Lledo PM, Gotz M.
Nat Neurosci. 2005 Jul;8(7):865-72.
PMID 15951811
New perspectives on eye evolution.
Halder G, Callaerts P, Gehring WJ.
Curr Opin Genet Dev. 1995 Oct;5(5):602-9.
PMID 8664548
Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development.
Haubst N, Berger J, Radjendirane V, Graw J, Favor J, Saunders GF, Stoykova A, Gotz M.
Development. 2004 Dec;131(24):6131-40. Epub 2004 Nov 17.
PMID 15548580
Glial cells generate neurons: the role of the transcription factor Pax6.
Heins N, Malatesta P, Cecconi F, Nakafuku M, Tucker KL, Hack MA, Chapouton P, Barde YA, Gotz M.
Nat Neurosci. 2002 Apr;5(4):308-15.
PMID 11896398
Methylation of the TPEF- and PAX6-promoters is increased in early bladder cancer and in normal mucosa adjacent to pTa tumours.
Hellwinkel OJ, Kedia M, Isbarn H, Budaus L, Friedrich MG.
BJU Int. 2008 Mar;101(6):753-7. Epub 2007 Dec 7.
PMID 18070176
Mouse small eye results from mutations in a paired-like homeobox-containing gene.
Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V.
Nature. 1991 Dec 19-26;354(6354):522-5.
PMID 1684639
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
Hingorani M, Williamson KA, Moore AT, van Heyningen V.
Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2581-90. Epub 2009 Feb 14.
PMID 19218613
Loss- and gain-of-function analyses reveal targets of Pax6 in the developing mouse telencephalon.
Holm PC, Mader MT, Haubst N, Wizenmann A, Sigvardsson M, Gotz M.
Mol Cell Neurosci. 2007 Jan;34(1):99-119. Epub 2006 Dec 8.
PMID 17158062
Subpial neuronal migration in the medulla oblongata of Pax-6-deficient rats.
Horie M, Sango K, Takeuchi K, Honma S, Osumi N, Kawamura K, Kawano H.
Eur J Neurosci. 2003 Jan;17(1):49-57.
PMID 12534968
Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity.
Kammandel B, Chowdhury K, Stoykova A, Aparicio S, Brenner S, Gruss P.
Dev Biol. 1999 Jan 1;205(1):79-97.
PMID 9882499
Pax-6 is required for thalamocortical pathway formation in fetal rats.
Kawano H, Fukuda T, Kubo K, Horie M, Uyemura K, Takeuchi K, Osumi N, Eto K, Kawamura K.
J Comp Neurol. 1999 May 31;408(2):147-60.
PMID 10333267
Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2.
Kim EA, Noh YT, Ryu MJ, Kim HT, Lee SE, Kim CH, Lee C, Kim YH, Choi CY.
J Biol Chem. 2006 Mar 17;281(11):7489-97. Epub 2006 Jan 9.
PMID 16407227
Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development.
Kioussi C, O'Connell S, St-Onge L, Treier M, Gleiberman AS, Gruss P, Rosenfeld MG.
Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14378-82.
PMID 10588713
Long-range downstream enhancers are essential for Pax6 expression.
Kleinjan DA, Seawright A, Mella S, Carr CB, Tyas DA, Simpson TI, Mason JO, Price DJ, van Heyningen V.
Dev Biol. 2006 Nov 15;299(2):563-81. Epub 2006 Aug 30.
PMID 17014839
Pax6 is required for making specific subpopulations of granule and periglomerular neurons in the olfactory bulb.
Kohwi M, Osumi N, Rubenstein JL, Alvarez-Buylla A.
J Neurosci. 2005 Jul 27;25(30):6997-7003.
PMID 16049175
EGF receptor and Notch signaling act upstream of Eyeless/Pax6 to control eye specification.
Kumar JP, Moses K.
Cell. 2001 Mar 9;104(5):687-97.
PMID 11257223
PAX6 is expressed in pancreatic adenocarcinoma and is downregulated during induction of terminal differentiation.
Lang D, Mascarenhas JB, Powell SK, Halegoua J, Nelson M, Ruggeri BA.
Mol Carcinog. 2008 Feb;47(2):148-56.
PMID 17849422
Epidermal growth factor-induced proliferation requires down-regulation of Pax6 in corneal epithelial cells.
Li T, Lu L.
J Biol Chem. 2005 Apr 1;280(13):12988-95. Epub 2005 Jan 19.
PMID 15659382
Pax6 regulation in retinal cells by CCCTC binding factor.
Li T, Lu Z, Lu L.
Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5218-26.
PMID 17122106
Pax6 is required for production and maintenance of progenitor cells in postnatal hippocampal neurogenesis.
Maekawa M, Takashima N, Arai Y, Nomura T, Inokuchi K, Yuasa S, Osumi N.
Genes Cells. 2005 Oct;10(10):1001-14.
PMID 16164600
Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization.
Manuel M, Georgala PA, Carr CB, Chanas S, Kleinjan DA, Martynoga B, Mason JO, Molinek M, Pinson J, Pratt T, Quinn JC, Simpson TI, Tyas DA, van Heyningen V, West JD, Price DJ.
Development. 2007 Feb;134(3):545-55. Epub 2007 Jan 3.
PMID 17202185
Pax6 is required for the multipotent state of retinal progenitor cells.
Marquardt T, Ashery-Padan R, Andrejewski N, Scardigli R, Guillemot F, Gruss P.
Cell. 2001 Apr 6;105(1):43-55.
PMID 11301001
The PAX6 gene is activated by the basic helix-loop-helix transcription factor NeuroD/BETA2.
Marsich E, Vetere A, Di Piazza M, Tell G, Paoletti S.
Biochem J. 2003 Dec 15;376(Pt 3):707-15.
PMID 12962539
PAX6 is expressed in pancreatic cancer and actively participates in cancer progression through the activation of the met tyrosine kinase receptor gene.
Mascarenhas JB, Young KP, Littlejohn EL, Yoo BK, Salgia R, Lang D.
J Biol Chem. 2009 Aug 3. [Epub ahead of print]
PMID 19651775
Pax-6 functions in boundary formation and axon guidance in the embryonic mouse forebrain.
Mastick GS, Davis NM, Andrew GL, Easter SS Jr.
Development. 1997 May;124(10):1985-97.
PMID 9169845
A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells.
Matsuo T, Osumi-Yamashita N, Noji S, Ohuchi H, Koyama E, Myokai F, Matsuo N, Taniguchi S, Doi H, Iseki S, et al.
Nat Genet. 1993 Apr;3(4):299-304.
PMID 7981749
PAX6 suppresses the invasiveness of glioblastoma cells and the expression of the matrix metalloproteinase-2 gene.
Mayes DA, Hu Y, Teng Y, Siegel E, Wu X, Panda K, Tan F, Yung WK, Zhou YH.
Cancer Res. 2006 Oct 15;66(20):9809-17.
PMID 17047041
A binding site for homeodomain and Pax proteins is necessary for L1 cell adhesion molecule gene expression by Pax-6 and bone morphogenetic proteins.
Meech R, Kallunki P, Edelman GM, Jones FS.
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2420-5.
PMID 10051657
PAX6, paired domain influences sequence recognition by the homeodomain.
Mishra R, Gorlov IP, Chao LY, Singh S, Saunders GF.
J Biol Chem. 2002 Dec 20;277(51):49488-94. Epub 2002 Oct 17.
PMID 12388550
Polymicrogyria and absence of pineal gland due to PAX6 mutation.
Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM.
Ann Neurol. 2003 May;53(5):658-63.
PMID 12731001
Expression of the transcription factor Pax 6 in the adult rat dentate gyrus.
Nacher J, Varea E, Blasco-Ibanez JM, Castillo-Gomez E, Crespo C, Martinez-Guijarro FJ, McEwen BS.
J Neurosci Res. 2005 Sep 15;81(6):753-61.
PMID 16035109
Misrouting of mitral cell progenitors in the Pax6/small eye rat telencephalon.
Nomura T, Osumi N.
Development. 2004 Feb;131(4):787-96. Epub 2004 Jan 21.
PMID 14736749
A promoter-associated polymorphic repeat modulates PAX-6 expression in human brain.
Okladnova O, Syagailo YV, Tranitz M, Stober G, Riederer P, Mossner R, Lesch KP.
Biochem Biophys Res Commun. 1998b Jul 20;248(2):402-5.
PMID 9675149
Conservation of Pax 6 function and upstream activation by Notch signaling in eye development of frogs and flies.
Onuma Y, Takahashi S, Asashima M, Kurata S, Gehring WJ.
Proc Natl Acad Sci U S A. 2002 Feb 19;99(4):2020-5. Epub 2002 Feb 12.
PMID 11842182
Dual requirement for Pax6 in retinal progenitor cells.
Oron-Karni V, Farhy C, Elgart M, Marquardt T, Remizova L, Yaron O, Xie Q, Cvekl A, Ashery-Padan R.
Development. 2008 Dec;135(24):4037-47. Epub 2008 Nov 12.
PMID 19004853
Pax-6 is involved in the specification of hindbrain motor neuron subtype.
Osumi N, Hirota A, Ohuchi H, Nakafuku M, Iimura T, Kuratani S, Fujiwara M, Noji S, Eto K.
Development. 1997 Aug;124(15):2961-72.
PMID 9247338
Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator.
Osumi N, Shinohara H, Numayama-Tsuruta K, Maekawa M.
Stem Cells. 2008 Jul;26(7):1663-72. Epub 2008 May 8. (REVIEW)
PMID 18467663
Regulation of the Pax6 : Pax6(5a) mRNA ratio in the developing mammalian brain.
Pinson J, Mason JO, Simpson TI, Price DJ.
BMC Dev Biol. 2005 Jul 19;5:13.
PMID 16029501
Mutation analysis of gene PAX6 in human gliomas.
Pinto GR, Clara CA, Santos MJ, Almeida JR, Burbano RR, Rey JA, Casartelli C.
Genet Mol Res. 2007 Oct 5;6(4):1019-25.
PMID 18273794
Evidence that POU factor Brn-3B regulates expression of Pax-6 in neuroretina cells.
Plaza S, Hennemann H, Moroy T, Saule S, Dozier C.
J Neurobiol. 1999a Nov 15;41(3):349-58.
PMID 10526314
High conservation of cis-regulatory elements between quail and human for the Pax-6 gene.
Plaza S, Saule S, Dozier C.
Dev Genes Evol. 1999b Mar;209(3):165-73.
PMID 10079359
Disruption of early events in thalamocortical tract formation in mice lacking the transcription factors Pax6 or Foxg1.
Pratt T, Quinn JC, Simpson TI, West JD, Mason JO, Price DJ.
J Neurosci. 2002 Oct 1;22(19):8523-31.
PMID 12351726
A role for Pax6 in the normal development of dorsal thalamus and its cortical connections.
Pratt T, Vitalis T, Warren N, Edgar JM, Mason JO, Price DJ.
Development. 2000 Dec;127(23):5167-78.
PMID 11060242
PAX6 mutations reviewed.
Prosser J, van Heyningen V.
Hum Mutat. 1998;11(2):93-108. (REVIEW)
PMID 9482572
Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism.
Quinn JC, Molinek M, Martynoga BS, Zaki PA, Faedo A, Bulfone A, Hevner RF, West JD, Price DJ.
Dev Biol. 2007 Feb 1;302(1):50-65. Epub 2006 Aug 22.
PMID 16979618
Multiple functions for Pax6 in mouse eye and nasal development.
Quinn JC, West JD, Hill RE.
Genes Dev. 1996 Feb 15;10(4):435-46.
PMID 8600027
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA.
Am J Med Genet A. 2008 Mar 1;146A(5):558-69.
PMID 18241071
Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development.
Sander M, Neubuser A, Kalamaras J, Ee HC, Martin GR, German MS.
Genes Dev. 1997 Jul 1;11(13):1662-73.
PMID 9224716
The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis.
Sansom SN, Griffiths DS, Faedo A, Kleinjan DJ, Ruan Y, Smith J, van Heyningen V, Rubenstein JL, Livesey FJ.
PLoS Genet. 2009 Jun;5(6):e1000511. Epub 2009 Jun 12.
PMID 19521500
Transcriptional regulation of the mouse alpha A-crystallin gene: binding of USF to the -7/+5 region.
Sax CM, Cvekl A, Piatigorsky J.
Gene. 1997 Feb 7;185(2):209-16.
PMID 9055817
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.
Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, Hastie ND.
Cell. 1996 Jul 12;86(1):71-82.
PMID 8689689
Repression of glucagon gene transcription by peroxisome proliferator-activated receptor gamma through inhibition of Pax6 transcriptional activity.
Schinner S, Dellas C, Schroder M, Heinlein CA, Chang C, Fischer J, Knepel W.
J Biol Chem. 2002 Jan 18;277(3):1941-8. Epub 2001 Nov 13.
PMID 11707457
Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus.
Schmahl W, Knoedlseder M, Favor J, Davidson D.
Acta Neuropathol. 1993;86(2):126-35.
PMID 8213068
Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways.
Schuurmans C, Armant O, Nieto M, Stenman JM, Britz O, Klenin N, Brown C, Langevin LM, Seibt J, Tang H, Cunningham JM, Dyck R, Walsh C, Campbell K, Polleux F, Guillemot F.
EMBO J. 2004 Jul 21;23(14):2892-902. Epub 2004 Jul 1.
PMID 15229646
Pax6; a pleiotropic player in development.
Simpson TI, Price DJ.
Bioessays. 2002 Nov;24(11):1041-51. (REVIEW)
PMID 12386935
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.
Singh S, Mishra R, Arango NA, Deng JM, Behringer RR, Saunders GF.
Proc Natl Acad Sci U S A. 2002 May 14;99(10):6812-5. Epub 2002 Apr 30.
PMID 11983873
Modulation of PAX6 homeodomain function by the paired domain.
Singh S, Stellrecht CM, Tang HK, Saunders GF.
J Biol Chem. 2000 Jun 9;275(23):17306-13.
PMID 10747901
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V.
Nat Genet. 2001 Jul;28(3):214-6.
PMID 11431688
Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B.
Sivak JM, Mohan R, Rinehart WB, Xu PX, Maas RL, Fini ME.
Dev Biol. 2000 Jun 1;222(1):41-54.
PMID 10885745
Novel target sequences for Pax-6 in the brain-specific activating regions of the rat aldolase C gene.
Skala-Rubinson H, Vinh J, Labas V, Kahn A, Phan DT.
J Biol Chem. 2002 Dec 6;277(49):47190-6. Epub 2002 Oct 4.
PMID 12370174
Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas.
St-Onge L, Sosa-Pineda B, Chowdhury K, Mansouri A, Gruss P.
Nature. 1997 May 22;387(6631):406-9.
PMID 9163426
Pax6 modulates the dorsoventral patterning of the mammalian telencephalon.
Stoykova A, Treichel D, Hallonet M, Gruss P.
J Neurosci. 2000 Nov 1;20(21):8042-50.
PMID 11050125
Pax6 influences the time and site of origin of glial precursors in the ventral neural tube.
Sun T, Pringle NP, Hardy AP, Richardson WD, Smith HK.
Mol Cell Neurosci. 1998 Nov;12(4-5):228-39.
PMID 9828088
Pax6 regulates regional development and neuronal migration in the cerebral cortex.
Talamillo A, Quinn JC, Collinson JM, Caric D, Price DJ, West JD, Hill RE.
Dev Biol. 2003 Mar 1;255(1):151-63.
PMID 12618140
Functional analysis of paired box missense mutations in the PAX6 gene.
Tang HK, Chao LY, Saunders GF.
Hum Mol Genet. 1997 Mar;6(3):381-6.
PMID 9147640
Expression pattern of PAX3 and PAX6 genes during human embryogenesis.
Terzic' J, Saraga-Babic' M.
Int J Dev Biol. 1999 Sep;43(6):501-8.
PMID 10610023
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, et al.
Cell. 1991 Dec 20;67(6):1059-74.
PMID 1684738
Genetic control of dorsal-ventral identity in the telencephalon: opposing roles for Pax6 and Gsh2.
Toresson H, Potter SS, Campbell K.
Development. 2000 Oct;127(20):4361-71.
PMID 11003836
Er81 is a downstream target of Pax6 in cortical progenitors.
Tuoc TC, Stoykova A.
BMC Dev Biol. 2008 Feb 28;8:23.
PMID 18307776
Pax6 regulates cell adhesion during cortical development.
Tyas DA, Pearson H, Rashbass P, Price DJ.
Cereb Cortex. 2003 Jun;13(6):612-9.
PMID 12764036
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse.
Tyas DA, Simpson TI, Carr CB, Kleinjan DA, van Heyningen V, Mason JO, Price DJ.
BMC Dev Biol. 2006 May 4;6:21.
PMID 16674807
Pax-6, a murine paired box gene, is expressed in the developing CNS.
Walther C, Gruss P.
Development. 1991 Dec;113(4):1435-49.
PMID 1687460
The transcription factor, Pax6, is required for cell proliferation and differentiation in the developing cerebral cortex.
Warren N, Caric D, Pratt T, Clausen JA, Asavaritikrai P, Mason JO, Hill RE, Price DJ.
Cereb Cortex. 1999 Sep;9(6):627-35.
PMID 10498281
Roles of Pax-6 in murine diencephalic development.
Warren N, Price DJ.
Development. 1997 Apr;124(8):1573-82.
PMID 9108373
A highly conserved lens transcriptional control element from the Pax-6 gene.
Williams SC, Altmann CR, Chow RL, Hemmati-Brivanlou A, Lang RA.
Mech Dev. 1998 May;73(2):225-9.
PMID 9622640
Effect of CTCF-binding motif on regulation of PAX6 transcription.
Wu D, Li T, Lu Z, Dai W, Xu M, Lu L.
Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2422-9.
PMID 16723452
Regulation of Pax6 expression is conserved between mice and flies.
Xu PX, Zhang X, Heaney S, Yoon A, Michelson AM, Maas RL.
Development. 1999 Jan;126(2):383-95.
PMID 9847251
PAX6 intronic sequence targets expression to the spinal cord.
Xu ZP, Saunders GF.
Dev Genet. 1998;23(4):259-63.
PMID 9883578
Pax6 regulates granule cell polarization during parallel fiber formation in the developing cerebellum.
Yamasaki T, Kawaji K, Ono K, Bito H, Hirano T, Osumi N, Kengaku M.
Development. 2001 Aug;128(16):3133-44.
PMID 11688562
Protein phosphatase-1 modulates the function of Pax-6, a transcription factor controlling brain and eye development.
Yan Q, Liu WB, Qin J, Liu J, Chen HG, Huang X, Chen L, Sun S, Deng M, Gong L, Li Y, Zhang L, Liu Y, Feng H, Xiao Y, Liu Y, Li DW.
J Biol Chem. 2007 May 11;282(19):13954-65. Epub 2007 Mar 20.
PMID 17374606
Gsh2 and Pax6 play complementary roles in dorsoventral patterning of the mammalian telencephalon.
Yun K, Potter S, Rubenstein JL.
Development. 2001 Jan;128(2):193-205.
PMID 11124115
Cre-loxp fate-mapping of Pax6 enhancer active retinal and pancreatic progenitors.
Zhang X, Heaney S, Maas RL.
Genesis. 2003 Jan;35(1):22-30.
PMID 12481295
Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1.
Zheng JB, Zhou YH, Maity T, Liao WS, Saunders GF.
Nucleic Acids Res. 2001 Oct 1;29(19):4070-8.
PMID 11574690
A novel Pax-6 binding site in rodent B1 repetitive elements: coevolution between developmental regulation and repeated elements?
Zhou Y, Zheng JB, Gu X, Li W, Saunders GF.
Gene. 2000 Mar 21;245(2):319-28.
PMID 10717483
PAX6 suppression of glioma angiogenesis and the expression of vascular endothelial growth factor A.
Zhou YH, Hu Y, Mayes D, Siegel E, Kim JG, Mathews MS, Hsu N, Eskander D, Yu O, Tromberg BJ, Linskey ME.
J Neurooncol. 2009 Jul 19. [Epub ahead of print]
PMID 19618119
The expression of PAX6, PTEN, vascular endothelial growth factor, and epidermal growth factor receptor in gliomas: relationship to tumor grade and survival.
Zhou YH, Tan F, Hess KR, Yung WK.
Clin Cancer Res. 2003 Aug 15;9(9):3369-75.
PMID 12960124
PAX6 suppresses growth of human glioblastoma cells.
Zhou YH, Wu X, Tan F, Shi YX, Glass T, Liu TJ, Wathen K, Hess KR, Gumin J, Lang F, Yung WK.
J Neurooncol. 2005 Feb;71(3):223-9.
PMID 15735909
Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation.
Zhou YH, Zheng JB, Gu X, Saunders GF, Yung WK.
Genome Res. 2002 Nov;12(11):1716-22.
PMID 12421758
PAX6 in sensory development.
van Heyningen V, Williamson KA.
Hum Mol Genet. 2002 May 15;11(10):1161-7.(REVIEW)
PMID 12015275
Dosage requirement and allelic expression of PAX6 during lens placode formation.
van Raamsdonk CD, Tilghman SM.
Development. 2000 Dec;127(24):5439-48.
PMID 11076764


This paper should be referenced as such :
Zhou, YH
PAX6 (paired box 6)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(7):645-651.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;13)(p12;q21) PAX5/DACH1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Nervous system: Medulloblastoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome)

External links

HGNC (Hugo)PAX6   8620
LRG (Locus Reference Genomic)LRG_720
Entrez_Gene (NCBI)PAX6  5080  paired box 6
AliasesAN; AN2; ASGD5; D11S812E; 
GeneCards (Weizmann)PAX6
Ensembl hg19 (Hinxton)ENSG00000007372 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000007372 [Gene_View]  chr11:31784792-31811353 [Contig_View]  PAX6 [Vega]
ICGC DataPortalENSG00000007372
TCGA cBioPortalPAX6
AceView (NCBI)PAX6
Genatlas (Paris)PAX6
SOURCE (Princeton)PAX6
Genetics Home Reference (NIH)PAX6
Genomic and cartography
GoldenPath hg38 (UCSC)PAX6  -     chr11:31784792-31811353 -  11p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX6  -     11p13   [Description]    (hg19-Feb_2009)
EnsemblPAX6 - 11p13 [CytoView hg19]  PAX6 - 11p13 [CytoView hg38]
Mapping of homologs : NCBIPAX6 [Mapview hg19]  PAX6 [Mapview hg38]
OMIM106210   120430   136520   148190   165550   194072   206700   604229   607108   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000280 NM_001127612 NM_001258462 NM_001258463 NM_001258464 NM_001258465 NM_001310158 NM_001310159 NM_001310160 NM_001310161 NM_001604
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAX6
Cluster EST : UnigeneHs.611376 [ NCBI ]
CGAP (NCI)Hs.611376
Alternative Splicing GalleryENSG00000007372
Gene ExpressionPAX6 [ NCBI-GEO ]   PAX6 [ EBI - ARRAY_EXPRESS ]   PAX6 [ SEEK ]   PAX6 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5080
GTEX Portal (Tissue expression)PAX6
Human Protein AtlasENSG00000007372-PAX6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26367   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP26367  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26367
Splice isoforms : SwissVarP26367
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Paired_dom    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    PAX (PF00292)   
Domain families : Pfam (NCBI)pfam00046    pfam00292   
Domain families : Smart (EMBL)HOX (SM00389)  PAX (SM00351)  
Conserved Domain (NCBI)PAX6
DMDM Disease mutations5080
Blocks (Seattle)PAX6
PDB (SRS)2CUE    6PAX   
PDB (PDBSum)2CUE    6PAX   
PDB (IMB)2CUE    6PAX   
Structural Biology KnowledgeBase2CUE    6PAX   
SCOP (Structural Classification of Proteins)2CUE    6PAX   
CATH (Classification of proteins structures)2CUE    6PAX   
Human Protein Atlas [tissue]ENSG00000007372-PAX6 [tissue]
Peptide AtlasP26367
IPIIPI00218800   IPI00973245   IPI00449071   IPI01025167   IPI01026257   IPI00975481   IPI01025706   IPI01024828   IPI01024926   IPI00657866   IPI01008753   IPI00657677   IPI00983425   IPI01013766   
Protein Interaction databases
IntAct (EBI)P26367
Ontologies - Pathways
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  blood vessel development  eye development  pancreatic A cell development  DNA binding  transcription factor activity, sequence-specific DNA binding  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  central nervous system development  visual perception  transcription factor binding  response to wounding  animal organ morphogenesis  positive regulation of gene expression  protein ubiquitination  protein kinase binding  histone acetyltransferase binding  glucose homeostasis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  neuron fate commitment  negative regulation of neurogenesis  iris morphogenesis  cornea development in camera-type eye  R-SMAD binding  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  blood vessel development  eye development  pancreatic A cell development  DNA binding  transcription factor activity, sequence-specific DNA binding  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  central nervous system development  visual perception  transcription factor binding  response to wounding  animal organ morphogenesis  positive regulation of gene expression  protein ubiquitination  protein kinase binding  histone acetyltransferase binding  glucose homeostasis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  neuron fate commitment  negative regulation of neurogenesis  iris morphogenesis  cornea development in camera-type eye  R-SMAD binding  
Pathways : KEGGMaturity onset diabetes of the young   
REACTOMEP26367 [protein]
REACTOME PathwaysR-HSA-5617472 [pathway]   
NDEx NetworkPAX6
Atlas of Cancer Signalling NetworkPAX6
Wikipedia pathwaysPAX6
Orthology - Evolution
GeneTree (enSembl)ENSG00000007372
Phylogenetic Trees/Animal Genes : TreeFamPAX6
Homologs : HomoloGenePAX6
Homology/Alignments : Family Browser (UCSC)PAX6
Gene fusions - Rearrangements
Tumor Fusion PortalPAX6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX6
Exome Variant ServerPAX6
ExAC (Exome Aggregation Consortium)ENSG00000007372
GNOMAD BrowserENSG00000007372
Genetic variants : HAPMAP5080
Genomic Variants (DGV)PAX6 [DGVbeta]
DECIPHERPAX6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAX6 
ICGC Data PortalPAX6 
TCGA Data PortalPAX6 
Broad Tumor PortalPAX6
OASIS PortalPAX6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAX6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAX6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MRC Human Genetics Unit LOVD at MRC IGMM
BioMutasearch PAX6
DgiDB (Drug Gene Interaction Database)PAX6
DoCM (Curated mutations)PAX6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAX6 (select a term)
NCG5 (London)PAX6
Cancer3DPAX6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM106210    120430    136520    148190    165550    194072    206700    604229    607108   
Orphanet230    416    512    742    16740    19593    2590    10399    13959    13964    13962    13963    13960    13961   
Genetic Testing Registry PAX6
NextProtP26367 [Medical]
Target ValidationPAX6
Huge Navigator PAX6 [HugePedia]
snp3D : Map Gene to Disease5080
BioCentury BCIQPAX6
ClinGenPAX6 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5080
Chemical/Pharm GKB GenePA32960
Clinical trialPAX6
canSAR (ICR)PAX6 (select the gene name)
PubMed282 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 14:58:42 CET 2017

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