PAX6 Chromosome 11
Paired box 6
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What This Gene Does
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. [provided by RefSeq, Mar 2019]
Gene Info
Gene Group
"PRD class homeoboxes and pseudogenes|Paired boxes"
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000007372
Associated Conditions (46)
Aniridia 1
Irido-corneo-trabecular dysgenesis
Foveal hypoplasia 1
Anophthalmia-microphthalmia syndrome
11p partial monosomy syndrome
carboxymethyl-dextran-A2-gadolinium-DOTA
Autosomal dominant keratitis
PAX6-related disorder
Congenital aniridia
Developmental disorder
Isolated optic nerve hypoplasia
Iris coloboma
PAX6-related ocular dysgenesis
Abnormality of refraction
Coloboma of optic nerve
Acute myeloid leukemia
Inborn genetic diseases
See cases
Coloboma
ocular
+26 more conditions
Key Variants
RS1064793223
Conflicting classifications of pathogenicity
Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1
Health Risk
RS111270711
Conflicting classifications of pathogenicity
Foveal hypoplasia 1, Anophthalmia-microphthalmia syndrome, 11p partial monosomy syndrome
Health Risk
RS140971065
Conflicting classifications of pathogenicity
Aniridia 1, carboxymethyl-dextran-A2-gadolinium-DOTA, Autosomal dominant keratitis
Health Risk
RS143185259
Conflicting classifications of pathogenicity
carboxymethyl-dextran-A2-gadolinium-DOTA, Autosomal dominant keratitis, Aniridia 1
Health Risk
RS143477661
Conflicting classifications of pathogenicity
carboxymethyl-dextran-A2-gadolinium-DOTA, 11p partial monosomy syndrome, Autosomal dominant keratitis
Health Risk
RS145329506
Conflicting classifications of pathogenicity
Autosomal dominant keratitis, Anophthalmia-microphthalmia syndrome, Foveal hypoplasia 1
Health Risk
RS146261351
Conflicting classifications of pathogenicity
Aniridia 1, Irido-corneo-trabecular dysgenesis, PAX6-related disorder
Health Risk
RS149053004
Conflicting classifications of pathogenicity
carboxymethyl-dextran-A2-gadolinium-DOTA, Foveal hypoplasia 1, 11p partial monosomy syndrome
Health Risk
RS149777109
Conflicting classifications of pathogenicity
Autosomal dominant keratitis, 11p partial monosomy syndrome, Aniridia 1
Health Risk
RS1554985430
Conflicting classifications of pathogenicity
Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1
Health Risk
RS1800427
Conflicting classifications of pathogenicity
Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1
Health Risk
RS180780893
Conflicting classifications of pathogenicity
Autosomal dominant keratitis, Foveal hypoplasia 1, Aniridia 1
Health Risk
All Variants (370)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1592350160 | Health Risk | Likely pathogenic | — |
| RS1592366898 | Health Risk | Likely pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Inborn genetic diseases |
| RS1592420967 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1592421981 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592422097 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592432969 | Health Risk | Likely pathogenic | — |
| RS1592433022 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592433640 | Health Risk | Likely pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS1592542002 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592542273 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592542705 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592545972 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592562717 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592562910 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592563636 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1, Aniridia 1 |
| RS1592563721 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1592564366 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS1950629763 | Health Risk | Likely pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS1953969921 | Health Risk | Likely pathogenic | — |
| RS1955943115 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS201439078 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2134657107 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2135096558 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Aniridia 1, Aniridia 1 |
| RS2135311510 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2494724434 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2495077510 | Health Risk | Likely pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS2495121695 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2495176679 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis |
| RS2495180066 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2495296956 | Health Risk | Likely pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS2496115864 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2496117097 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2496129091 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS2496136805 | Health Risk | Likely pathogenic | — |
| RS2496149378 | Health Risk | Likely pathogenic | — |
| RS2496152990 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS2496155861 | Health Risk | Likely pathogenic | — |
| RS2496292641 | Health Risk | Likely pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Aniridia 1 |
| RS2496294637 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2496299328 | Health Risk | Likely pathogenic | Coloboma, ocular, autosomal dominant |
| RS2496302668 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS2496303235 | Health Risk | Likely pathogenic | Aniridia 1, Aniridia 1 |
| RS587776572 | Health Risk | Likely pathogenic | Foveal hypoplasia 1, Foveal hypoplasia 1 |
| RS786205467 | Health Risk | Likely pathogenic | — |
| RS864309686 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS886044289 | Health Risk | Likely pathogenic | Irido-corneo-trabecular dysgenesis, Aniridia 1, PAX6-related disorder |
| RS1057517780 | Health Risk | Pathogenic | Aniridia 1, Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS1057517782 | Health Risk | Pathogenic | — |
| RS1057517783 | Health Risk | Pathogenic | Aniridia 1, Aniridia 1, Aniridia 1 |
| RS1057517785 | Health Risk | Pathogenic | Aniridia 1, Irido-corneo-trabecular dysgenesis, Albinism or congenital nystagmus |