PAX6
entrez
5080
canonical
uniprot
P26367
canonical
ensembl
ENSG00000007372
resolver
ensp
ENSP00000241001
resolver
ensp
ENSP00000368403
resolver
ensp
ENSP00000368406
resolver
ensp
ENSP00000368410
resolver
ensp
ENSP00000388132
resolver
ensp
ENSP00000404100
resolver
ensp
ENSP00000404356
resolver
ensp
ENSP00000431585
resolver
ensp
ENSP00000480026
resolver
ensp
ENSP00000490963
resolver
ensp
ENSP00000490971
resolver
ensp
ENSP00000491065
resolver
ensp
ENSP00000491214
resolver
ensp
ENSP00000491229
resolver
ensp
ENSP00000491295
resolver
ensp
ENSP00000491365
resolver
ensp
ENSP00000491517
resolver
ensp
ENSP00000491679
resolver
ensp
ENSP00000491862
resolver
ensp
ENSP00000491872
resolver
ensp
ENSP00000491904
resolver
ensp
ENSP00000491944
resolver
ensp
ENSP00000491948
resolver
ensp
ENSP00000492024
resolver
ensp
ENSP00000492081
resolver
ensp
ENSP00000492166
resolver
ensp
ENSP00000492205
resolver
ensp
ENSP00000492315
resolver
ensp
ENSP00000492316
resolver
ensp
ENSP00000492437
resolver
ensp
ENSP00000492476
resolver
ensp
ENSP00000492587
resolver
ensp
ENSP00000492658
resolver
ensp
ENSP00000492769
resolver
ensp
ENSP00000492802
resolver
ensp
ENSP00000495109
resolver
enst
ENST00000481563
resolver
enst
ENST00000638629
resolver
enst
ENST00000638963
resolver
enst
ENST00000638965
resolver
enst
ENST00000639034
resolver
enst
ENST00000639386
resolver
enst
ENST00000639548
resolver
enst
ENST00000640125
resolver
genesymbol
PAX6
resolver
genesymbol_syn
AN2
resolver
hgnc
HGNC:8620
resolver
uniprot
A0A1W2PPZ0
resolver
uniprot
A0A1W2PQG7
resolver
uniprot
A0A1W2PRA8
resolver
uniprot
A0A1W2PSB5
resolver
uniprot
D1KF47
resolver
uniprot
F1T0F8
resolver
uniprot
Q66SS1
resolver
uniprot
Q6N006
resolver
uniprot
Q99413
resolver
uniprot_entry
A0A1W2PPZ0_HUMAN
resolver
uniprot_entry
A0A1W2PQG7_HUMAN
resolver
uniprot_entry
A0A1W2PRA8_HUMAN
resolver
uniprot_entry
A0A1W2PSB5_HUMAN
resolver
uniprot_entry
D1KF47_HUMAN
resolver
uniprot_entry
F1T0F8_HUMAN
resolver
uniprot_entry
PAX6_HUMAN
resolver
uniprot_entry
Q66SS1_HUMAN
resolver
uniprot_sec
Q6N006
resolver
uniprot_sec
Q99413
resolver
amino_acid_sequence
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
uniprot
proteins
disease_involvement
DISEASE: Aniridia 1 (AN1) [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:0000269|PubMed:10234503, ECO:0000269|PubMed:10737978, ECO:0000269|PubMed:11309364, ECO:0000269|PubMed:11553050, ECO:0000269|PubMed:11826019, ECO:0000269|PubMed:12552561, ECO:0000269|PubMed:12634864, ECO:0000269|PubMed:16493447, ECO:0000269|PubMed:17595013, ECO:0000269|PubMed:21850189, ECO:0000269|PubMed:24033328, ECO:0000269|PubMed:8364574, ECO:0000269|PubMed:9147640, ECO:0000269|PubMed:9281415, ECO:0000269|PubMed:9792406, ECO:0000269|PubMed:9856761, ECO:0000269|PubMed:9931324, ECO:0000269|Ref.27, ECO:0000269|Ref.28}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269|PubMed:10441571, ECO:0000269|PubMed:12721955, ECO:0000269|PubMed:8162071}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:29914532, ECO:0000269|PubMed:8640214, ECO:0000269|PubMed:9931324}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. {ECO:0000269|PubMed:7668281}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Microphthalmia/coloboma 12 (MCOPCB12) [MIM:120200]: A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB12 is an autosomal dominant form characterized by inter- and intrafamilial variability. Some patients also exhibit neurodevelopmental anomalies. {ECO:0000269|PubMed:12721955}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:12721955}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:12721955}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Aniridia 2 (AN2) [MIM:617141]: A form of aniridia, 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:0000269|PubMed:24290376}. Note=The gene represented in this entry is involved in disease pathogenesis. A mutation in a PAX6 long-range cis-regulatory element, known as SIMO, affects PAX6 expression in the developing eye and has pathological consequences. The mutation is located in ELP4 intron 9, 150 kb downstream of PAX6. {ECO:0000269|PubMed:24290376}.
uniprot
proteins
function
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). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P63015}.
uniprot
proteins
mass_dalton
46683
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation. {ECO:0000250}.
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10234503
uniprot
proteins
pubmed
10346815
uniprot
proteins
pubmed
10441571
uniprot
proteins
pubmed
10737978
uniprot
proteins
pubmed
10955655
uniprot
proteins
pubmed
11309364
uniprot
proteins
pubmed
11553050
uniprot
proteins
pubmed
11826019
uniprot
proteins
pubmed
12552561
uniprot
proteins
pubmed
12634864
uniprot
proteins
pubmed
12721955
uniprot
proteins
pubmed
1345175
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16493447
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1684738
uniprot
proteins
pubmed
17595013
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19414065
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21850189
uniprot
proteins
pubmed
24033328
uniprot
proteins
pubmed
24290376
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
7668281
uniprot
proteins
pubmed
7958875
uniprot
proteins
pubmed
8162071
uniprot
proteins
pubmed
8364574
uniprot
proteins
pubmed
8640214
uniprot
proteins
pubmed
9147640
uniprot
proteins
pubmed
9281415
uniprot
proteins
pubmed
9482572
uniprot
proteins
pubmed
9538891
uniprot
proteins
pubmed
9792406
uniprot
proteins
pubmed
9856761
uniprot
proteins
pubmed
9931324
uniprot
proteins
sequence_length
422
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P63015}.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000250|UniProtKB:P63016}.; SUBCELLULAR LOCATION: [Isoform 5a]: Nucleus {ECO:0000250|UniProtKB:P63016}.
uniprot
proteins