AlphaFold predicted structure
PAX6 · P26367
Mean pLDDT
68.4/ 100
Low
422 residues
Confidence breakdown
- Very high(≥ 90)39%
- Confident(70–90)6%
- Low(50–70)16%
- Very low(< 50)38%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PAX6
Chr 11p13paired box 6
- Aliases:
- D11S812E, AN, WAGR
- MANE:
- ENST00000640368.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAnophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial diabetes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGlaucoma (developmental)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
isolated aniridia
0.85Peters anomaly
0.80aniridia
0.76foveal hypoplasia 1
0.76isolated optic nerve hypoplasia
0.76autosomal dominant keratitis
0.75coloboma of optic nerve
0.74coloboma, ocular, autosomal dominant
0.73Foveal hypoplasia - presenile cataract
0.66aniridia-cerebellar ataxia-intellectual disability syndrome
0.65
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Paired box protein Pax-6
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By similarity)
Diseases associated with PAX6
Curated MONDO disease pages that list PAX6 among their top associated genes.