Property Summary

NCBI Gene PubMed Count 265
Grant Count 455
R01 Count 335
Funding $65,720,575.23
PubMed Score 1375.54
PubTator Score 805.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (57)

Disease Z-score Confidence
Aniridia 26 8.133 4.0
WAGR syndrome 12 6.032 3.0
Coloboma 51 5.591 2.8
Microphthalmia 78 5.581 2.8
Keratopathy 12 5.11 2.6
Retinal detachment 33 4.774 2.4
Cataract 104 4.634 2.3
Glaucoma 134 4.415 2.2
Congenital nystagmus 26 4.256 2.1
Intellectual disability 573 4.163 2.1
Myopia 99 4.032 2.0
Scleral staphyloma 2 4.013 2.0
Persistent hyperplastic primary vitreous 20 3.776 1.9
Blindness 84 3.507 1.8
Amblyopia 24 3.459 1.7
Ptosis 42 3.395 1.7
Congenital aphakia 6 3.391 1.7
Cancer 2,346 3.378 1.7
Ectropion 18 3.257 1.6
Sclerocornea 16 3.23 1.6
Waardenburg's syndrome 16 3.154 1.6
diabetes mellitus 1,663 3.136 1.6
Aniridia type 2 1
Autistic Disorder 320
Axenfeld-Rieger Syndrome, Type 1 3
Breast cancer 3,094
CATARACT, AUTOSOMAL DOMINANT 4
Coloboma of optic disc 1
Congenital ectopic pupil 1
Congenital neurologic anomalies 9
Congenital ocular coloboma (disorder) 12
Corneal disease 32 4.0
Craniofacial Abnormalities 147
Deletion 11p13 3
Diabetes Mellitus, Experimental 106
Diabetes Mellitus, Non-Insulin-Dependent 157
Disorder of the optic nerve 1
FOVEAL HYPOPLASIA 1 1
Gillespie syndrome 1
Irido-corneo-trabecular dysgenesis (diso... 6 
Keratitis, hereditary 1
Melanoma 261
Morning glory syndrome 1
Neoplasm Invasiveness 127
O'Donnell Pappas syndrome 1
Optic Nerve Aplasia, Bilateral 1
Optic Nerve Hypoplasia, Bilateral 1
Stomach Neoplasms 282
Tooth Abnormalities 10
atypical teratoid/rhabdoid tumor 1,095
glioblastoma 5,572
malignant mesothelioma 3,162
medulloblastoma, large-cell 6,234
pilocytic astrocytoma 3,086
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
sonic hedgehog group medulloblastoma 1,482

Expression

  Differential Expression (9)

Synonym

Accession P26367 Q6N006 Q99413
Symbols AN
AN2
FVH1
MGDA
WAGR
D11S812E

Gene

PDB

2CUE   6PAX  

Gene RIF (203)

PMID Text
26535646 we reported the results of the clinical and molecular evaluation of a threegeneration Chinese family with aniridia and identified a rare heterozygous M1K mutation in PAX6.
26440771 We analyzed the PAX6 gene in a Bosma arrhinia microphthalmia syndrome patient but found no variation or mutation that could constitute or establish a causal association in our patient
26439359 findings suggest that PAX6+/- is associated with smaller pineal size, lower melatonin secretion and greater parental report of sleep disturbances in children; further studies are needed to explore the potential use of melatonin replacement for improving sleep quality in patients with PAX6+/-
26394807 Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression
26345820 ChIP experiments confirmed that Pdx1 activates the expression of the downstream transcription factors, Ngn3 and Pax6, by combined with the promoter regions of insulin (Insulin-P), Ngn3 (Ngn3-P), and Pax6 (Pax6-P).
26295830 In post-mortem substantia nigra from Parkinson's disease patients, a reduced number of PAX6 expressing cells were found.
26135959 MicroRNA-7 inhibits the malignant phenotypes of nonsmall cell lung cancer in vitro by targeting Pax6
26045558 loss of PAX6 converts LSCs to epidermal stem cells, as demonstrated by a switch in the keratin gene expression profile and by the appearance of congenital dermoid tissue
25804118 SOX4, SOX11, and PAX6 were significant for tumor type.
25746674 A novel deletion mutation in the PAX6 gene resulting in an abnormal PAX6 COOH-terminal extension in the Chinese family with aniridia.
More...

AA Sequence

MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRA      1 - 70
IGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGAD     71 - 140
GMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKL    141 - 210
QRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASN    211 - 280
TPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQ    281 - 350
TSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR    351 - 420
LQ                                                                        421 - 422
//

Text Mined References (267)

PMID Year Title
26535646 2015 A rare PAX6 mutation in a Chinese family with congenital aniridia.
26440771 2016 Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.
26439359 2016 Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.
26394807 2015 Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
26345820 2015 Pdxl and its role in activating Ngn3 and Pax6 to induce differentiation of iPSCs into islet ? cells.
26295830 2016 PAX6 expression may be protective against dopaminergic cell loss in Parkinson's disease.
26135959 2015 MicroRNA-7 inhibits the malignant phenotypes of non?small cell lung cancer in vitro by targeting Pax6.
26045558 2015 Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease.
25804118 2015 SOX4, SOX11 and PAX6 mRNA expression was identified as a (prognostic) marker for the aggressiveness of neuroendocrine tumors of the lung by using next-generation expression analysis (NanoString).
25746674 2015 A novel PAX6 deletion in a Chinese family with congenital aniridia.
More...