Homo sapiens Protein: PAX6
InnateDB Protein IDBP-37438.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX6
Protein Name paired box 6
Synonyms AN; AN2; D11S812E; FVH1; MGDA; WAGR;
Species Homo sapiens
Ensembl Protein ENSP00000368427
InnateDB Gene IDBG-37434 (PAX6)
Protein Structure
UniProt Annotation
Function 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). Isoform 5a appears to function as a molecular switch that specifies target genes. {ECO:0000250}.
Subcellular Localization Nucleus.
Disease Associations Aniridia (AN) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269PubMed:10234503, ECO:0000269PubMed:10737978, ECO:0000269PubMed:11309364, ECO:0000269PubMed:11553050, ECO:0000269PubMed:11826019, ECO:0000269PubMed:12552561, ECO:0000269PubMed:12634864, ECO:0000269PubMed:21850189, ECO:0000269PubMed:8364574, ECO:0000269PubMed:9147640, ECO:0000269PubMed:9281415, ECO:0000269PubMed:9792406, ECO:0000269PubMed:9856761, ECO:0000269PubMed:9931324, ECO:0000269Ref.25, ECO:0000269Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269PubMed:10441571, ECO:0000269PubMed:12721955, ECO:0000269PubMed:8162071}. Note=The disease is caused by mutations affecting the gene represented in this entry.Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. {ECO:0000269PubMed:8640214, ECO:0000269PubMed:9931324}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. Note=The disease is caused by mutations affecting the gene represented in this entry.Coloboma of iris choroid and retina (COI) [MIM:120200]: Set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. Note=The disease is caused by mutations affecting the gene represented in this entry.Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. {ECO:0000269PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.Aniridia, cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]: A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation. {ECO:0000269PubMed:17595013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.
Number of Interactions This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated
Total 47 [view]
Protein-Protein 44 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
Predicted by orthology
Total 13 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
GO:0035035 histone acetyltransferase binding
GO:0070412 R-SMAD binding
Biological Process
GO:0001568 blood vessel development
GO:0001654 eye development
GO:0003322 pancreatic A cell development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organismal development
GO:0007417 central nervous system development
GO:0007601 visual perception
GO:0009611 response to wounding
GO:0009887 organ morphogenesis
GO:0010628 positive regulation of gene expression
GO:0016567 protein ubiquitination
GO:0042593 glucose homeostasis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048663 neuron fate commitment
GO:0050768 negative regulation of neurogenesis
GO:0061072 iris morphogenesis
GO:0061303 cornea development in camera-type eye
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
InterPro IPR001356 Homeobox domain
IPR001523 Paired domain
IPR009057 Homeodomain-like
PFAM PF00046
Post-translational Modifications
SwissProt P26367
PhosphoSite PhosphoSite-P26367
UniProt Splice Variant
Entrez Gene 5080
UniGene Hs.694375
RefSeq NP_001121084
OMIM 607108
HPRD 06167
EMBL AY047583 AY337852 AY707088 BC011953 BX640762 CH471064 HQ397714 M77844 M93650 Z83307 Z95332
GenPept AAA36416 AAA59962 AAH11953 AAK95849 AAR10412 AAU12168 ADP65746 CAE45868 CAG38087 CAG38363 EAW68233 EAW68234