PAX6 (paired box 6) - Rat Genome Database

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Gene: PAX6 (paired box 6) Homo sapiens
Analyze
Symbol: PAX6
Name: paired box 6
RGD ID: 737459
HGNC Page HGNC:8620
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; R-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including camera-type eye development; pancreatic A cell development; and positive regulation of macromolecule biosynthetic process. Located in cytosol and nucleoplasm. Part of chromatin. Implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Biomarker of pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alternative protein PAX6; AN; AN1; AN2; Aniridia 1; Aniridia 2; aniridia type II protein; ASGD5; D11S812E; FVH1; MGC17209; MGDA; oculorhombin; paired box 6 PAX6-12a isoform; paired box 6 PAX6A-ASdel6 isoform; paired box 6 PAX6A-ASdel6-AS7 isoform; paired box 6 PAX6A-del6 isoform; paired box 6 PAX6B-ASdel6 isoform; paired box 6 PAX6D isoform; paired box homeotic gene-6; paired box protein Pax-6; WAGR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381131,789,026 - 31,817,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,784,779 - 31,817,961 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,810,574 - 31,839,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,767,034 - 31,789,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341131,768,057 - 31,789,341NCBI
Celera1131,953,799 - 31,986,960 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBIHuRef
CHM1_11131,805,847 - 31,839,030 (-)NCBICHM1_1
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-cotinine  (EXP)
(S)-colchicine  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
abacavir  (EXP)
acetaldehyde  (ISO)
acetic acid  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
aldicarb  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
Aroclor 1254  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
bucladesine  (EXP)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (ISO)
carbaryl  (EXP)
carbofuran  (ISO)
CHIR 99021  (EXP)
CHIR-98014  (EXP)
chlorpyrifos  (EXP)
choline  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
cytarabine  (EXP)
D-glucose  (ISO)
dabigatran  (EXP)
DDT  (EXP)
decabromodiphenyl ether  (EXP,ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazinon  (EXP)
diclofenac  (ISO)
dieldrin  (EXP)
diethyl hydrogen phosphate  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethosuximide  (ISO)
flusilazole  (ISO)
folic acid  (EXP,ISO)
fructose  (ISO)
gamma-hexachlorocyclohexane  (EXP)
glucose  (ISO)
glyphosate  (EXP,ISO)
heptachlor  (EXP)
herbicide  (EXP)
hexachlorophene  (EXP,ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
lumiracoxib  (ISO)
maneb  (ISO)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Morroniside  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nicotine  (ISO)
nilotinib  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
potassium chromate  (EXP)
propanal  (EXP)
propiconazole  (ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
T-2 toxin  (ISO)
tert-butyl hydroperoxide  (EXP)
Tetrachlorobisphenol A  (EXP)
thalidomide  (EXP)
thapsigargin  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vismodegib  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (TAS)
anterior/posterior pattern specification  (IEA,ISO)
astrocyte differentiation  (IEA,ISO)
axon guidance  (IEA,ISO)
axonogenesis  (IEA,ISO)
blood vessel development  (IMP)
brain development  (IEA,ISO)
camera-type eye development  (IEA,ISO)
cell differentiation  (IEA,ISO)
cell fate commitment  (IEA,ISO)
cell fate determination  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to fibroblast growth factor stimulus  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to leukemia inhibitory factor  (IEA,ISO)
cellular response to prostaglandin E stimulus  (IEA,ISO)
cellular response to xenobiotic stimulus  (IEA,ISO)
central nervous system development  (TAS)
cerebellum development  (IEA,ISO)
cerebral cortex development  (IEA)
cerebral cortex regionalization  (IEA,ISO)
chromatin remodeling  (IEA)
commitment of neuronal cell to specific neuron type in forebrain  (IEA,ISO)
cornea development in camera-type eye  (IMP)
dorsal/ventral axis specification  (IEA,ISO)
dorsal/ventral pattern formation  (IEA,ISO)
embryonic camera-type eye morphogenesis  (IEA,ISO)
epithelial cell development  (IEA,ISO)
establishment of mitotic spindle orientation  (IEA,ISO)
eye development  (TAS)
eye photoreceptor cell development  (IEA,ISO)
forebrain development  (IEA,ISO)
forebrain dorsal/ventral pattern formation  (IEA,ISO)
forebrain-midbrain boundary formation  (IEA,ISO)
gene expression  (IEA,ISO)
glandular epithelial cell differentiation  (IEA,ISO)
glucose homeostasis  (IMP)
habenula development  (IEA,ISO)
hindbrain development  (IEA,ISO)
insulin metabolic process  (IEA,ISO)
interkinetic nuclear migration  (IEA,ISO)
iris morphogenesis  (IMP)
keratinocyte differentiation  (IEA,ISO)
lacrimal gland development  (IEA,ISO)
learned vocalization behavior or vocal learning  (IEA,ISO)
lens development in camera-type eye  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of neural precursor cell proliferation  (IEA,ISO)
negative regulation of neuroblast proliferation  (IEA,ISO)
negative regulation of neurogenesis  (ISS)
negative regulation of neuron differentiation  (IEA,ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
nervous system development  (IEA,IMP)
neural crest cell migration  (IEA,ISO)
neural precursor cell proliferation  (IEA,ISO)
neuroblast proliferation  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron fate commitment  (NAS)
neuron migration  (IEA,ISO)
olfactory bulb development  (IEA,ISO)
olfactory bulb mitral cell layer development  (IEA,ISO)
oligodendrocyte cell fate specification  (IEA,ISO)
pallium development  (IEA,ISO)
pancreatic A cell development  (IEA,IMP)
pancreatic A cell differentiation  (IEA,ISO)
pituitary gland development  (IEA,ISO)
positive regulation of cell fate specification  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP)
positive regulation of epithelial cell differentiation  (IEA,ISO)
positive regulation of gene expression  (IEA,IMP,ISO)
positive regulation of glutamatergic neuron differentiation  (IEA,ISO)
positive regulation of miRNA transcription  (IDA)
positive regulation of neuroblast proliferation  (IEA,ISO)
positive regulation of neuron migration  (IEA,ISO)
positive regulation of response to biotic stimulus  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA,IMP,ISO,ISS)
protein localization to organelle  (IEA,ISO)
protein phosphorylation  (ISO)
regionalization  (IEA,ISO)
regulation of asymmetric cell division  (IEA,ISO)
regulation of cell migration  (IEA,ISO)
regulation of DNA-templated transcription  (IEA)
regulation of gene expression  (IEA,ISO)
regulation of neurogenesis  (IEA,ISO)
regulation of neuron differentiation  (IEA,ISO)
regulation of neuron projection development  (IEA,ISO)
regulation of timing of cell differentiation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
response to ethanol  (IEA,ISO)
response to wounding  (IEP)
retina development in camera-type eye  (IEA,ISO)
rhombomere morphogenesis  (IEA,ISO)
salivary gland morphogenesis  (IEA,ISO)
sensory neuron migration  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISO)
smoothened signaling pathway  (IEA,ISO)
spinal cord development  (IEA,ISO)
telencephalon regionalization  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
type B pancreatic cell differentiation  (IEA,ISO)
ventral spinal cord development  (IEA,ISS)
visual perception  (TAS)

Cellular Component
chromatin  (IDA,IEA,ISA,ISO)
cytoplasm  (IDA)
cytosol  (IDA)
membrane  (IEA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating insulin concentration  (IAGP)
Abnormal corneal limbus morphology  (IAGP)
Abnormal glucose homeostasis  (IAGP)
Abnormal lens morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal vagina morphology  (IAGP)
Abnormal vitreous humor morphology  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Ambiguous genitalia  (IAGP)
Amblyopia  (IAGP)
Aniridia  (IAGP)
Anophthalmia  (IAGP)
Anterior subcapsular cataract  (IAGP)
Anterior synechiae of the anterior chamber  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the macula  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral ptosis  (IAGP)
Cataract  (IAGP)
Central opacification of the cornea  (IAGP)
Chorioretinal coloboma  (IAGP)
Chorioretinal hypopigmentation  (IAGP)
Coloboma  (IAGP)
Congenital nystagmus  (IAGP)
Congenital onset  (IAGP)
Contiguous gene syndrome  (IAGP)
Corneal degeneration  (IAGP)
Corneal erosion  (IAGP)
Corneal neovascularization  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Deep anterior chamber  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Displacement of the urethral meatus  (IAGP)
Dysfunction of lateral corticospinal tracts  (IAGP)
Ectopia lentis  (IAGP)
Ectopia pupillae  (IAGP)
Everted lower lip vermilion  (IAGP)
Exotropia  (IAGP)
Generalized hyperpigmentation  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Gonadoblastoma  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Horizontal nystagmus  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypoplastic iris stroma  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased axial length of the globe  (IAGP)
Increased proinsulin:insulin ratio  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Keratitis  (IAGP)
Limbal stem cell deficiency  (IAGP)
Macular agenesis  (IAGP)
Macular hypoplasia  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Morning glory anomaly  (IAGP)
Nephroblastoma  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Ocular hypertension  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Optic disc coloboma  (IAGP)
Optic nerve aplasia  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pendular nystagmus  (IAGP)
Peters anomaly  (IAGP)
Polymicrogyria  (IAGP)
Posterior embryotoxon  (IAGP)
Presenile cataracts  (IAGP)
Ptosis  (IAGP)
Reduced visual acuity  (IAGP)
Remnants of the hyaloid vascular system  (IAGP)
Renal insufficiency  (IAGP)
Retinal detachment  (IAGP)
Retinal vascular tortuosity  (IAGP)
Rieger anomaly  (IAGP)
Scanning speech  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Streak ovary  (IAGP)
Subcapsular cataract  (IAGP)
Thinning of Descemet membrane  (IAGP)
Typified by somatic mosaicism  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. PAX6 aniridia and interhemispheric brain anomalies. Abouzeid H, etal., Mol Vis. 2009 Oct 17;15:2074-83.
2. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. Axton R, etal., J Med Genet. 1997 Apr;34(4):279-86.
3. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Azuma N, etal., Am J Hum Genet. 1999 Sep;65(3):656-63.
4. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Azuma N, etal., Am J Hum Genet. 2003 Jun;72(6):1565-70. Epub 2003 Apr 29.
5. A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract. Cai F, etal., Mol Vis. 2010 Jun 22;16:1141-5.
6. A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus. Cao X, etal., Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.
7. A novel PAX6 deletion in a Chinese family with congenital aniridia. Chen JH, etal., Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.
8. Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Chen P, etal., Mol Vis. 2013 May 30;19:1169-77. Print 2013.
9. Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression. Duncan MK, etal., J Cell Sci. 2000 Sep;113 ( Pt 18):3173-85.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. Gofflot F, etal., Am J Med Genet. 1999 Nov 26;87(3):207-16.
12. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Graw J, etal., Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4671-83.
13. Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. Han W, etal., Invest Ophthalmol Vis Sci. 2009 Jan;50(1):47-56. doi: 10.1167/iovs.07-0813.
14. PAX6 haplotypes are associated with high myopia in Han chinese. Jiang B, etal., PLoS One. 2011 May 12;6(5):e19587. doi: 10.1371/journal.pone.0019587.
15. A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. Jin C, etal., Mol Vis. 2012;18:465-70. Epub 2012 Feb 16.
16. Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. Kang Y, etal., Mol Vis. 2012;18:1750-4. Epub 2012 Jun 27.
17. PAX6 is expressed in pancreatic adenocarcinoma and is downregulated during induction of terminal differentiation. Lang D, etal., Mol Carcinog. 2008 Feb;47(2):148-56.
18. PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia. Lin Y, etal., Mol Vis. 2011;17:3116-20. Epub 2011 Nov 26.
19. Aberrant lens fiber differentiation in anterior subcapsular cataract formation: a process dependent on reduced levels of Pax6. Lovicu FJ, etal., Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1946-53.
20. Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. Manuel M, etal., BMC Dev Biol. 2008 May 28;8:59. doi: 10.1186/1471-213X-8-59.
21. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Mirzayans F, etal., Am J Hum Genet. 1995 Sep;57(3):539-48.
22. Association of paired box 6 with high myopia in Japanese. Miyake M, etal., Mol Vis. 2012;18:2726-35. Epub 2012 Nov 17.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. Ramaesh T, etal., Exp Eye Res. 2005 Aug;81(2):224-35.
26. Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development. Ramaesh T, etal., Exp Eye Res. 2009 Aug;89(2):263-73. doi: 10.1016/j.exer.2009.03.016. Epub 2009 Apr 2.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Transcription factor Pax6 is expressed by astroglia after transient brain ischemia in the rat model. Steliga A, etal., Folia Neuropathol. 2013;51(3):203-13.
31. Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. Stober G, etal., Biol Psychiatry 1999 Jun 15;45(12):1585-91.
32. Evaluation of Pax6 mutant rat as a model for autism. Umeda T, etal., PLoS One. 2010 Dec 21;5(12):e15500. doi: 10.1371/journal.pone.0015500.
33. Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. Vincent MC, etal., Am J Ophthalmol. 2004 Dec;138(6):1016-21.
34. A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Weisschuh N, etal., Mol Vis. 2012;18:751-7. Epub 2012 Mar 29.
35. Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3). Wen JH, etal., Diabetologia. 2009 Mar;52(3):504-13. Epub 2008 Nov 26.
36. Muller glia cells activation in rat retina after optic nerve injury: spatiotemporal correlation with transcription initiation factor IIb. Xu Y, etal., J Mol Neurosci. 2013 Sep;51(1):37-46. doi: 10.1007/s12031-012-9941-z. Epub 2013 Jan 9.
Additional References at PubMed
PMID:1302030   PMID:1345175   PMID:1505982   PMID:1684738   PMID:7550230   PMID:7666404   PMID:7698003   PMID:7757816   PMID:7909985   PMID:7951315   PMID:7958875   PMID:8111379  
PMID:8162071   PMID:8364574   PMID:8640214   PMID:8889548   PMID:9013587   PMID:9056723   PMID:9147640   PMID:9281415   PMID:9482572   PMID:9538891   PMID:9757029   PMID:9792406  
PMID:9856761   PMID:9882499   PMID:9931324   PMID:10079359   PMID:10234503   PMID:10346815   PMID:10359315   PMID:10506141   PMID:10610023   PMID:10737978   PMID:10747901   PMID:10955655  
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PMID:19414065   PMID:19607881   PMID:19650334   PMID:19651775   PMID:19686589   PMID:19790232   PMID:19793656   PMID:19806578   PMID:19806579   PMID:19898691   PMID:19907666   PMID:19917615  
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PMID:37191119   PMID:37266952   PMID:37510387   PMID:37553561   PMID:37724397   PMID:38002984   PMID:38056551   PMID:38441200   PMID:38531548   PMID:38679634   PMID:38745318  


Genomics

Comparative Map Data
PAX6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381131,789,026 - 31,817,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,784,779 - 31,817,961 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,810,574 - 31,839,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,767,034 - 31,789,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341131,768,057 - 31,789,341NCBI
Celera1131,953,799 - 31,986,960 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBIHuRef
CHM1_11131,805,847 - 31,839,030 (-)NCBICHM1_1
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBIT2T-CHM13v2.0
Pax6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392105,499,241 - 105,528,755 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2105,499,245 - 105,527,709 (+)EnsemblGRCm39 Ensembl
GRCm382105,668,896 - 105,698,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2105,668,900 - 105,697,364 (+)EnsemblGRCm38mm10GRCm38
MGSCv372105,516,602 - 105,537,226 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362105,477,284 - 105,497,908 (+)NCBIMGSCv36mm8
Celera2106,897,827 - 106,918,452 (+)NCBICelera
Cytogenetic Map2E3NCBI
cM Map255.31NCBI
Pax6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83112,590,034 - 112,611,771 (+)NCBIGRCr8
mRatBN7.2392,128,772 - 92,157,022 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl392,135,637 - 92,157,014 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx395,631,693 - 95,652,650 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03104,230,622 - 104,251,579 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03102,058,594 - 102,079,600 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0395,700,241 - 95,728,682 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl395,707,386 - 95,728,624 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03102,320,059 - 102,348,223 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4391,127,605 - 91,149,178 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1391,023,827 - 91,045,776 (+)NCBI
Celera391,190,477 - 91,211,449 (+)NCBICelera
RH 3.4 Map3722.9RGD
Cytogenetic Map3q33NCBI
Pax6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547610,058,961 - 10,074,162 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547610,058,979 - 10,074,668 (-)NCBIChiLan1.0ChiLan1.0
PAX6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2933,999,843 - 34,029,009 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11134,004,314 - 34,033,443 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,753,190 - 31,782,225 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11131,641,813 - 31,671,071 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1131,641,813 - 31,664,474 (-)Ensemblpanpan1.1panPan2
PAX6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1835,260,520 - 35,281,796 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01836,247,894 - 36,277,423 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1836,247,935 - 36,276,689 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11835,828,719 - 35,849,973 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01835,410,013 - 35,431,263 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01836,045,041 - 36,066,313 (+)NCBIUU_Cfam_GSD_1.0
Pax6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494732,827,732 - 32,856,209 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365335,957,971 - 5,982,075 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365335,952,529 - 5,980,889 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAX6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl228,978,287 - 29,001,200 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1228,971,565 - 29,001,149 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2231,478,545 - 31,510,656 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAX6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1133,386,165 - 33,414,605 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl133,392,970 - 33,414,587 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038130,542,963 - 130,572,341 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pax6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476620,536,233 - 20,554,759 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476620,536,581 - 20,554,589 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAX6
512 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs) duplication Aniridia 1 [RCV000548212] Chr11:31790828..31790829 [GRCh38]
Chr11:31812376..31812377 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) single nucleotide variant Aniridia 1 [RCV000033168]|Aniridia 1 [RCV003764654]|Coloboma, ocular, autosomal dominant [RCV003883464] Chr11:31802733 [GRCh38]
Chr11:31824281 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.889_890dup (p.Ser297fs) duplication Aniridia 1 [RCV000003623] Chr11:31793719..31793720 [GRCh38]
Chr11:31815267..31815268 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.725-6T>A single nucleotide variant Aniridia 1 [RCV000003624] Chr11:31794120 [GRCh38]
Chr11:31815668 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.448C>T (p.Gln150Ter) single nucleotide variant Aniridia 1 [RCV000003625] Chr11:31800808 [GRCh38]
Chr11:31822356 [GRCh37]
Chr11:11p13		 pathogenic
NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter) single nucleotide variant Aniridia 1 [RCV000984456]|Cataracts, congenital, with late-onset corneal dystrophy [RCV000003626] Chr11:31790835 [GRCh38]
Chr11:31812