Paired Box Gene 6 (PAX6)

AN; AN2; MGDA; WAGR; Oculorhombin; Aniridia,Keratitis; Aniridia type II protein

SPN	P289
HGNC	8620
MGI	97490
PubMed	22792072
RGD	3258
UniProt	P26367
Wiki	PAX6

PAX6 is the most researched of the Pax genes and appears throughout the literature as a "master control" gene for the development of eyes and other sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues. This transcription factor is most famous for its use in the interspecifically induced expression of ectopic eyes and is of medical importance because heterozygous mutants produce a wide spectrum of ocular defects such as Aniridia in humans.

PAX6 protein function is highly conserved across bilaterian species, for instance mouse PAX6 can trigger eye development in Drosophila melanogaster.

Reference

"Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region."
Cell 67:1059-1074(1991) [PubMed] [Europe PMC] [Abstract]

"Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene."
Nat. Genet. 2:232-239(1992) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing."
Genes Dev. 8:2022-2034(1994) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina."
Int. J. Dev. Neurosci. 27:485-492(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the human Pax-6 paired domain-DNA complex reveals specific roles for the linker region and carboxyl-terminal subdomain in DNA binding."
Genes Dev. 13:1263-1275(1999) [PubMed] [Europe PMC] [Abstract]

"PAX6 mutations reviewed."
Hum. Mutat. 11:93-108(1998) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the homeobox domain of the human paired box protein PAX-6."
Submitted (NOV-2005) to the PDB data bank

"PAX6 mutations in aniridia."
Hum. Mol. Genet. 2:915-920(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly."
Nat. Genet. 6:168-173(1994) [PubMed] [Europe PMC] [Abstract]

"PAX6 missense mutation in isolated foveal hypoplasia."
Nat. Genet. 13:141-142(1996) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of paired box missense mutations in the PAX6 gene."
Hum. Mol. Genet. 6:381-386(1997) [PubMed] [Europe PMC] [Abstract]

"Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations."
Mol. Cell. Probes 11:287-292(1997) [PubMed] [Europe PMC] [Abstract]

"Ten novel mutations found in Aniridia."
Hum. Mutat. 12:304-313(1998) [PubMed] [Europe PMC] [Abstract]

"Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies."
Invest. Ophthalmol. Vis. Sci. 39:828-830(1998) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the PAX6 gene in aniridia."
Invest. Ophthalmol. Vis. Sci. 39:2524-2528(1998) [PubMed] [Europe PMC] [Abstract]

"Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies."
Am. J. Hum. Genet. 65:656-663(1999) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype."
Eur. J. Hum. Genet. 7:274-286(1999) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations."
Hum. Mol. Genet. 8:165-172(1999) [PubMed] [Europe PMC] [Abstract]

Unpublished observations (APR-1999)

Unpublished observations (AUG-1999)

"A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia."
Graefes Arch. Clin. Exp. Ophthalmol. 238:552-558(2000) [PubMed] [Europe PMC] [Abstract]

"Mutation in the PAX6 gene in twenty patients with aniridia."
Hum. Mutat. 15:332-339(2000) [PubMed] [Europe PMC] [Abstract]

"PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation."
Clin. Genet. 60:151-154(2001) [PubMed] [Europe PMC] [Abstract]

"Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function."
Hum. Mol. Genet. 10:911-918(2001) [PubMed] [Europe PMC] [Abstract]

"National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology."
J. Med. Genet. 39:16-22(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations."
Am. J. Hum. Genet. 72:1565-1570(2003) [PubMed] [Europe PMC] [Abstract]

"Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects."
Eur. J. Hum. Genet. 11:163-169(2003) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the DNA-binding region and termination codon in PAX6."
Hum. Mutat. 21:138-145(2003) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of a human PAX6 homeobox mutant."
Eur. J. Hum. Genet. 14:744-751(2006) [PubMed] [Europe PMC] [Abstract]

"A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation."
Am. J. Med. Genet. A 143:1802-1805(2007) [PubMed] [Europe PMC] [Abstract]

"Mutation spectrum of PAX6 in Chinese patients with aniridia."
Mol. Vis. 17:2139-2147(2011) [PubMed] [Europe PMC] [Abstract]