Gene: PAX6

Alternate names for this Gene: AN|AN1|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGR

Gene Summary: This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: paired box 6

Type of Gene: protein-coding

rs1057517785 in PAX6 gene and ANTERIOR SEGMENT DYSGENESIS 5 PMID 22692063 2012 Aniridia.

PMID 26661695 2016 Assessment of PAX6 alleles in 66 families with aniridia.

PMID 21397818 2011 A case of aniridia with unilateral Peters anomaly.

PMID 19898691 2009 Eye anomalies and neurological manifestations in patients with PAX6 mutations.

PMID 8111279 1994 Safe blood? HTLV-1 infection is crippling.

PMID 21850189 2011 Mutation spectrum of PAX6 in Chinese patients with aniridia.

PMID 10234503 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 16712695 2006 Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

PMID 26535646 2015 A rare PAX6 mutation in a Chinese family with congenital aniridia.

PMID 9482572 1998 PAX6 mutations reviewed.

PMID 10441571 1999 Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

PMID 8162071 1994 Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

PMID 19862335 2009 PAX6 aniridia and interhemispheric brain anomalies.

PMID 27081502 2014 Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.

PMID 23761016 2013 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

PMID 27455012 2016 [Analysis of PAX6 gene mutation in a family affected with congenital aniridia].

PMID 26849621 2016 Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

PMID 21423868 2011 Genetic and genomic analysis of classic aniridia in Saudi Arabia.

PMID 10737978 2000 Mutation in the PAX6 gene in twenty patients with aniridia.

PMID 15889018 2005 A novel PAX6 gene mutation in a Chinese family with aniridia.

PMID 24737507 2014 Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.

PMID 18241071 2008 Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

PMID 27307692 2016 Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

PMID 8364574 1993 PAX6 mutations in aniridia.

PMID 12634864 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PMID 18483559 2008 Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

PMID 15579687 2004 Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.

PMID 20577777 2010 Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.

PMID 9792406 1998 Ten novel mutations found in Aniridia.

rs121907919 in PAX6 gene and Aniridia PMID 12634864 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PMID 11826019 2002 National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

PMID 12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.

PMID 10234503 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PMID 8364574 1993 PAX6 mutations in aniridia.

PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PMID 11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

PMID 9931324 1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

PMID 11553050 2001 PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

PMID 10737978 2000 Mutation in the PAX6 gene in twenty patients with aniridia.

PMID 17595013 2007 A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

PMID 21850189 2011 Mutation spectrum of PAX6 in Chinese patients with aniridia.

PMID 16493447 2006 Molecular analysis of a human PAX6 homeobox mutant.

PMID 9792406 1998 Ten novel mutations found in Aniridia.

PMID 9281415 1997 Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.

PMID 9856761 1998 Missense mutations in the PAX6 gene in aniridia.

PMID 9147640 1997 Functional analysis of paired box missense mutations in the PAX6 gene.

rs1057517785 in PAX6 gene and Aniridia type 1 PMID 26661695 2016 Assessment of PAX6 alleles in 66 families with aniridia.

PMID 22692063 2012 Aniridia.

PMID 8111279 1994 Safe blood? HTLV-1 infection is crippling.

PMID 21397818 2011 A case of aniridia with unilateral Peters anomaly.

PMID 19898691 2009 Eye anomalies and neurological manifestations in patients with PAX6 mutations.

PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 26535646 2015 A rare PAX6 mutation in a Chinese family with congenital aniridia.

PMID 21850189 2011 Mutation spectrum of PAX6 in Chinese patients with aniridia.

PMID 16712695 2006 Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

PMID 10234503 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PMID 9482572 1998 PAX6 mutations reviewed.

PMID 27081502 2014 Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.

PMID 21423868 2011 Genetic and genomic analysis of classic aniridia in Saudi Arabia.

PMID 26849621 2016 Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

PMID 19862335 2009 PAX6 aniridia and interhemispheric brain anomalies.

PMID 23761016 2013 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

PMID 27455012 2016 [Analysis of PAX6 gene mutation in a family affected with congenital aniridia].

PMID 10737978 2000 Mutation in the PAX6 gene in twenty patients with aniridia.

PMID 15889018 2005 A novel PAX6 gene mutation in a Chinese family with aniridia.

PMID 24737507 2014 Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.

PMID 27307692 2016 Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

PMID 18241071 2008 Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

PMID 8364574 1993 PAX6 mutations in aniridia.

PMID 12634864 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PMID 18483559 2008 Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

PMID 20577777 2010 Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.

PMID 15579687 2004 Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.

PMID 9792406 1998 Ten novel mutations found in Aniridia.

rs121907925 in PAX6 gene and Coloboma of optic disc PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

rs1554985722 in PAX6 gene and Congenital cataract PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs121907925 in PAX6 gene and Congenital ocular coloboma (disorder) PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

rs61879810 in PAX6 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs121907918 in PAX6 gene and FOVEAL HYPOPLASIA 1 PMID 8640214 1996 PAX6 missense mutation in isolated foveal hypoplasia.

PMID 9931324 1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

rs1554985722 in PAX6 gene and Microphthalmos PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

rs61879810 in PAX6 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.