Pax6 (paired box 6) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: Pax6 (paired box 6) Rattus norvegicus
Analyze
Symbol: Pax6
Name: paired box 6
RGD ID: 3258
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and minor groove of adenine-thymine-rich DNA binding activity. Involved in several processes, including enteroendocrine cell differentiation; nervous system development; and positive regulation of macromolecule biosynthetic process. Located in chromatin. Used to study autistic disorder. Biomarker of Smith-Lemli-Opitz syndrome and transient cerebral ischemia. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6); PARTICIPATES IN maturity-onset diabetes of the young pathway; INTERACTS WITH (S)-nicotine; 1,2-dimethylhydrazine; 3H-1,2-dithiole-3-thione.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: oculorhombin; paired box gene 6; Paired box homeotic gene 6; paired box protein Pax-6
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Pax6Sey   Pax6Sey2  
Genetic Models: SD-Pax6Sey2/Mce SD-Pax6Sey/Mce
Is Marker For: Strains:   SD-Pax6Sey/Mce  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Gene Ontology Annotations     Click to see Annotation Detail View

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

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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
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. R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons. Andrews GL and Mastick GS, J Neurosci 2003 Oct 29;23(30):9873-80.
3. Role of Fabp7, a downstream gene of Pax6, in the maintenance of neuroepithelial cells during early embryonic development of the rat cortex. Arai Y, etal., J Neurosci. 2005 Oct 19;25(42):9752-61.
4. 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.
5. 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.
6. 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.
7. Glucose modulates Pax6 expression through the JNK/p38 MAP kinase pathway in pancreatic beta-cells. Balakrishnan S, etal., Life Sci. 2014 Jul 25;109(1):1-7. doi: 10.1016/j.lfs.2014.06.009. Epub 2014 Jun 20.
8. 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.
9. 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.
10. A novel PAX6 deletion in a Chinese family with congenital aniridia. Chen JH, etal., Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.
11. 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.
12. 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.
13. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
14. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
15. 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.
16. Pax6 is a key component of regulated glucagon secretion. Gosmain Y, etal., Endocrinology. 2012 Sep;153(9):4204-15. doi: 10.1210/en.2012-1425. Epub 2012 Jul 9.
17. Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function. Gosmain Y, etal., J Biol Chem. 2010 Oct 22;285(43):33381-93. doi: 10.1074/jbc.M110.147215. Epub 2010 Jun 30.
18. Pax6 is crucial for beta-cell function, insulin biosynthesis, and glucose-induced insulin secretion. Gosmain Y, etal., Mol Endocrinol. 2012 Apr;26(4):696-709. doi: 10.1210/me.2011-1256. Epub 2012 Mar 8.
19. 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.
20. Extracellular matrix modulates insulin production during differentiation of AR42J cells: functional role of Pax6 transcription factor. Hamamoto K, etal., J Cell Biochem. 2011 Jan;112(1):318-29. doi: 10.1002/jcb.22930.
21. Adult pancreatic islets require differential pax6 gene dosage. Hamasaki A, etal., Biochem Biophys Res Commun. 2007 Feb 2;353(1):40-6. Epub 2006 Dec 4.
22. 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.
23. The Expression of Neuroepithelial Cell Fate Determinants in Rat Spinal Cord Development. Henley BM and McDermott KW, J Mol Neurosci. 2010 Mar 2.
24. Subpial neuronal migration in the medulla oblongata of Pax-6-deficient rats. Horie M, etal., Eur J Neurosci 2003 Jan;17(1):49-57.
25. Trophic factors and neuronal interactions regulate the cell cycle and Pax6 expression in Muller stem cells. Insua MF, etal., J Neurosci Res. 2008 May 15;86(7):1459-71. doi: 10.1002/jnr.21606.
26. 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.
27. 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.
28. 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.
29. Prenatal exposure of ethanol induces increased glutamatergic neuronal differentiation of neural progenitor cells. Kim KC, etal., J Biomed Sci. 2010 Nov 12;17:85. doi: 10.1186/1423-0127-17-85.
30. Pax6-dependent cortical glutamatergic neuronal differentiation regulates autism-like behavior in prenatally valproic acid-exposed rat offspring. Kim KC, etal., Mol Neurobiol. 2014 Feb;49(1):512-28. doi: 10.1007/s12035-013-8535-2. Epub 2013 Sep 13.
31. Study of Pax6 mutant rat revealed the association between upper incisor formation and midface formation. Kriangkrai R, etal., Dev Dyn. 2006 Aug;235(8):2134-43.
32. High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. Kwitek AE, etal., Genome Res. 2004 Apr;14(4):750-7
33. 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.
34. 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.
35. 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.
36. Pax6 is required for production and maintenance of progenitor cells in postnatal hippocampal neurogenesis. Maekawa M, etal., Genes Cells. 2005 Oct;10(10):1001-14.
37. 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.
38. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Matsuo T, etal., Nat Genet. 1993 Apr;3(4):299-304.
39. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
40. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Mirzayans F, etal., Am J Hum Genet. 1995 Sep;57(3):539-48.
41. Association of paired box 6 with high myopia in Japanese. Miyake M, etal., Mol Vis. 2012;18:2726-35. Epub 2012 Nov 17.
42. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
43. Misrouting of mitral cell progenitors in the Pax6/small eye rat telencephalon. Nomura T and Osumi N, Development. 2004 Feb;131(4):787-96. Epub 2004 Jan 21.
44. Pax6-dependent boundary defines alignment of migrating olfactory cortex neurons via the repulsive activity of ephrin A5. Nomura T, etal., Development. 2006 Apr;133(7):1335-45. Epub 2006 Mar 1.
45. Downstream genes of Pax6 revealed by comprehensive transcriptome profiling in the developing rat hindbrain. Numayama-Tsuruta K, etal., BMC Dev Biol. 2010 Jan 18;10:6. doi: 10.1186/1471-213X-10-6.
46. Pax6 guides a relay of pioneer longitudinal axons in the embryonic mouse forebrain. Nural HF and Mastick GS, J Comp Neurol 2004 Nov 22;479(4):399-409.
47. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
48. Pax-6 is involved in the specification of hindbrain motor neuron subtype. Osumi N, etal., Development 1997 Aug;124(15):2961-72.
49. Cranial anomaly of homozygous rSey rat is associated with a defect in the migration pathway of midbrain crest cells. Osumi-Yamashita N, etal., Dev Growth Differ. 1997 Feb;39(1):53-67.
50. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
51. 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.
52. 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.
53. Developmental and daily expression of the Pax4 and Pax6 homeobox genes in the rat retina: localization of Pax4 in photoreceptor cells. Rath MF, etal., J Neurochem. 2009 Jan;108(1):285-94. Epub 2008 Nov 19.
54. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
55. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
56. Regulation of c-maf gene expression by Pax6 in cultured cells. Sakai M, etal., Nucleic Acids Res. 2001 Mar 1;29(5):1228-37.
57. Reduced proliferation and excess astrogenesis of Pax6 heterozygous neural stem/progenitor cells. Sakayori N, etal., Neurosci Res. 2012 Oct;74(2):116-21. doi: 10.1016/j.neures.2012.08.004. Epub 2012 Aug 27.
58. Novel target sequences for Pax-6 in the brain-specific activating regions of the rat aldolase C gene. Skala-Rubinson H, etal., J Biol Chem 2002 Dec 6;277(49):47190-6.
59. 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.
60. Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. Stober G, etal., Biol Psychiatry 1999 Jun 15;45(12):1585-91.
61. Pax6 regulates specification of ventral neurone subtypes in the hindbrain by establishing progenitor domains. Takahashi M and Osumi N, Development 2002 Mar;129(6):1327-38.
62. Pax6 regulates boundary-cell specification in the rat hindbrain. Takahashi M and Osumi N, Mech Dev. 2011 May-Jun;128(5-6):289-302. doi: 10.1016/j.mod.2011.04.001. Epub 2011 Apr 9.
63. Pax6 transcription factor is required for the interkinetic nuclear movement of neuroepithelial cells. Tamai H, etal., Genes Cells. 2007 Sep;12(9):983-96.
64. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
65. 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.
66. 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.
67. Prostaglandin E(2) enhances proliferation, dedifferentiation and stem-like properties of rat retinal Muller glial cells in vitro. Wang L, etal., Ophthalmic Res. 2013;49(2):100-7. doi: 10.1159/000345256. Epub 2012 Dec 18.
68. 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.
69. 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.
70. Altered gene expression in rat cranial neural crest cells exposed to a teratogenic glucose concentration in vitro: paradoxical downregulation of antioxidative defense genes. Wentzel P and Eriksson UJ, Birth Defects Res B Dev Reprod Toxicol. 2011 Oct;92(5):487-97. doi: 10.1002/bdrb.20321. Epub 2011 Aug 4.
71. Dopamine receptor activation promotes adult neurogenesis in an acute Parkinson model. Winner B, etal., Exp Neurol. 2009 Oct;219(2):543-52. doi: 10.1016/j.expneurol.2009.07.013. Epub 2009 Jul 18.
72. 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.
73. Pax6 regulates granule cell polarization during parallel fiber formation in the developing cerebellum. Yamasaki T, etal., Development. 2001 Aug;128(16):3133-44.
74. Corneal epithelial-like transdifferentiation of hair follicle stem cells is mediated by pax6 and beta-catenin/Lef-1. Yang K, etal., Cell Biol Int. 2009 Aug;33(8):861-6. doi: 10.1016/j.cellbi.2009.04.009. Epub 2009 Apr 23.
Additional References at PubMed
PMID:6877261   PMID:7550230   PMID:9169845   PMID:9230312   PMID:9828088   PMID:10409504   PMID:10588713   PMID:10821755   PMID:11050125   PMID:11062307   PMID:11069887   PMID:11124115  
PMID:11209945   PMID:11731698   PMID:11756345   PMID:11967891   PMID:12050133   PMID:12072567   PMID:12183364   PMID:12196586   PMID:12477932   PMID:12648492   PMID:12756174   PMID:12764040  
PMID:14625556   PMID:15031110   PMID:15229646   PMID:15489334   PMID:15548580   PMID:15758185   PMID:15793245   PMID:15878992   PMID:15905411   PMID:15917450   PMID:16024294   PMID:16035109  
PMID:16115881   PMID:16407227   PMID:16464444   PMID:16497297   PMID:16582099   PMID:16919471   PMID:16950124   PMID:17251190   PMID:17291498   PMID:17982423   PMID:18287938   PMID:18462699  
PMID:18467663   PMID:18590716   PMID:18628401   PMID:18653562   PMID:18701439   PMID:18799682   PMID:19146846   PMID:19217949   PMID:19258013   PMID:19409883   PMID:19521500   PMID:19749747  
PMID:20439489   PMID:20725088   PMID:20852734   PMID:20943817   PMID:21084637   PMID:21397028   PMID:21698109   PMID:22031545   PMID:22162276   PMID:22764048   PMID:23431145   PMID:23434913  
PMID:23622063   PMID:23637604   PMID:23643363   PMID:23679989   PMID:24466353   PMID:24488179   PMID:24528677   PMID:24952136   PMID:25100583   PMID:25931508   PMID:26191217   PMID:27355350  
PMID:29102934   PMID:29451327   PMID:29482641   PMID:31301380   PMID:38750454  


Genomics

Comparative Map Data
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
(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
(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
62 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:162
Count of miRNA genes:63
Interacting mature miRNAs:78
Transcripts:ENSRNOT00000005882, ENSRNOT00000006302
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2301414Kidm37Kidney mass QTL 370.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)370653097121056321Rat
1582238Bw68Body weight QTL 683.20.0064body mass (VT:0001259)body weight (CMO:0000012)353184593115665732Rat
1582239Epfw1Epididymal fat weight QTL 14.50.0006epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)353184593115665732Rat
70216Cm14Cardiac mass QTL 142.1heart mass (VT:0007028)heart wet weight (CMO:0000069)331172320163586636Rat
2292591Esta4Estrogen-induced thymic atrophy QTL 4thymus mass (VT:0004954)thymus wet weight (CMO:0000855)347233211147415807Rat
1358362Srcrt2Stress Responsive Cort QTL 22.78blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)338192233133483320Rat
737818Hcar12Hepatocarcinoma resistance QTL 122.6liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)329463235118376539Rat
1582218Bw74Body weight QTL 743.90.0021body mass (VT:0001259)body weight (CMO:0000012)353184593115665732Rat
1582221Kidm30Kidney mass QTL 303.50.0008kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)364655305115665732Rat
1581568Rf53Renal function QTL 53urine total protein amount (VT:0000032)urine protein excretion rate to body weight ratio (CMO:0001099)356395968161299569Rat
1582210Bw71Body weight QTL 713.30.0012body mass (VT:0001259)body weight (CMO:0000012)364655305115665732Rat
7387306Bw124Body weight QTL 1243.20.0003body mass (VT:0001259)body weight (CMO:0000012)384091273129091273Rat
1300111Rf12Renal function QTL 123.78renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)361017749121056321Rat
724523Tsu1Thymus enlargement suppressive QTL 13.84thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)350437504115638231Rat
1600376Arunc5Aerobic running capacity QTL 50.21exercise endurance trait (VT:0002332)maximum distance run on treadmill (CMO:0001406)373376539118376539Rat
8694437Bw167Body weight QTL 16722.460.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)391797474136797474Rat
2302273Gluco35Glucose level QTL 355.30.001blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)380800231114297550Rat
8662816Vetf4Vascular elastic tissue fragility QTL 44renal artery integrity trait (VT:0010642)number of ruptures of the internal elastic lamina of the renal arteries (CMO:0002563)359242096157323038Rat
1559282Emca5Estrogen-induced mammary cancer QTL 53.9mammary gland integrity trait (VT:0010552)percentage of study population developing mammary tumors during a period of time (CMO:0000948)343827364169034231Rat
1581503Cm58Cardiac mass QTL 582.70.05heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)343827364121056321Rat
2292613Ept16Estrogen-induced pituitary tumorigenesis QTL 168.3pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)347233430110362260Rat
631649Bp123Blood pressure QTL 1233.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)389772419134772419Rat
61419Cia11Collagen induced arthritis QTL 115.6joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)33035677398535386Rat
12879848Bw181Body weght QTL 1810.015body mass (VT:0001259)body weight (CMO:0000012)370348525121056321Rat
2301971Cm71Cardiac mass QTL 714.63heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)341874578155617519Rat
1358885Bp251Blood pressure QTL 2513.8arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)314489145121056321Rat
1354597Kidm13Kidney mass QTL 132.9kidney mass (VT:0002707)right kidney wet weight (CMO:0000082)341874578104104347Rat
2301970Bw81Body weight QTL 815.19body mass (VT:0001259)body weight (CMO:0000012)341874578155617519Rat
1581546Pur13Proteinuria QTL 132.930.0335urine total protein amount (VT:0000032)urine protein excretion rate (CMO:0000759)378196190146592722Rat
1354604Bw36Body weight QTL 362.9body mass (VT:0001259)body weight (CMO:0000012)333703347104104347Rat
631665Bw8Body weight QTL 85.5body mass (VT:0001259)body weight (CMO:0000012)350437042119183768Rat
1358888Bp264Blood pressure QTL 2644.43arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)314489145121056321Rat
1358186Ept2Estrogen-induced pituitary tumorigenesis QTL 28.3pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)347233430110362260Rat

Markers in Region
RH94662  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,156,482 - 92,156,661 (+)MAPPERmRatBN7.2
Rnor_6.0395,728,022 - 95,728,200NCBIRnor6.0
Rnor_5.03102,347,862 - 102,348,040UniSTSRnor5.0
RGSC_v3.4391,148,817 - 91,148,995UniSTSRGSC3.4
Celera391,211,088 - 91,211,266UniSTS
RH 3.4 Map3722.9UniSTS
Cytogenetic Map3q32UniSTS
RH94663  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,135,747 - 92,135,857 (+)MAPPERmRatBN7.2
Rnor_6.0395,707,292 - 95,707,401NCBIRnor6.0
Rnor_5.03102,327,132 - 102,327,241UniSTSRnor5.0
RGSC_v3.4391,127,511 - 91,127,620UniSTSRGSC3.4
Celera391,190,383 - 91,190,492UniSTS
Cytogenetic Map3q32UniSTS
GDB:197570  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,155,250 - 92,156,096 (+)MAPPERmRatBN7.2
Rnor_6.0395,726,790 - 95,727,635NCBIRnor6.0
Rnor_5.03102,346,630 - 102,347,475UniSTSRnor5.0
RGSC_v3.4391,147,585 - 91,148,430UniSTSRGSC3.4
Celera391,209,856 - 91,210,701UniSTS
Cytogenetic Map3q32UniSTS
GDB:344354  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,143,651 - 92,143,782 (+)MAPPERmRatBN7.2
Rnor_6.0395,715,194 - 95,715,324NCBIRnor6.0
Rnor_5.03102,335,034 - 102,335,164UniSTSRnor5.0
RGSC_v3.4391,135,415 - 91,135,545UniSTSRGSC3.4
Celera391,198,289 - 91,198,419UniSTS
Cytogenetic Map3q32UniSTS
PMC186446P1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,152,539 - 92,152,720 (+)MAPPERmRatBN7.2
Rnor_6.0395,724,079 - 95,724,259NCBIRnor6.0
Rnor_5.03102,343,919 - 102,344,099UniSTSRnor5.0
RGSC_v3.4391,144,340 - 91,144,520UniSTSRGSC3.4
Celera391,207,145 - 91,207,325UniSTS
Cytogenetic Map3q32UniSTS
Pax6  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,143,668 - 92,143,780 (+)MAPPERmRatBN7.2
Rnor_6.0395,715,211 - 95,715,322NCBIRnor6.0
Rnor_5.03102,335,051 - 102,335,162UniSTSRnor5.0
RGSC_v3.4391,135,432 - 91,135,543UniSTSRGSC3.4
Celera391,198,306 - 91,198,417UniSTS
Cytogenetic Map3q32UniSTS
D12Bir2  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,143,663 - 92,144,747 (+)MAPPERmRatBN7.2
Rnor_6.0395,715,206 - 95,716,289NCBIRnor6.0
Rnor_5.03102,335,046 - 102,336,129UniSTSRnor5.0
RGSC_v3.4391,135,427 - 91,136,510UniSTSRGSC3.4
Celera391,198,301 - 91,199,384UniSTS
Cytogenetic Map3q32UniSTS


Related Rat Strains
The following Strains have been annotated to Pax6
SD-Pax6Sey/Mce    


Genetic Models
This gene Pax6 is modified in the following models/strains:
SD-Pax6Sey2/Mce     SD-Pax6Sey/Mce    


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 3 22 99 41 38 27 13 27 2 98 40 93 19 54 11

Sequence


Ensembl Acc Id: ENSRNOT00000005882   ⟹   ENSRNOP00000005882
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl392,135,637 - 92,157,014 (+)Ensembl
Rnor_6.0 Ensembl395,707,386 - 95,728,382 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000006302   ⟹   ENSRNOP00000006302
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl392,143,229 - 92,157,014 (+)Ensembl
Rnor_6.0 Ensembl395,711,555 - 95,728,624 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000089525   ⟹   ENSRNOP00000071013
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl392,135,637 - 92,157,014 (+)Ensembl
Rnor_6.0 Ensembl395,715,193 - 95,727,664 (+)Ensembl
RefSeq Acc Id: NM_013001   ⟹   NP_037133
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83112,590,596 - 112,611,593 (+)NCBI
mRatBN7.2392,135,842 - 92,156,844 (+)NCBI
Rnor_6.0395,707,386 - 95,728,383 (+)NCBI
Rnor_5.03102,320,059 - 102,348,223 (+)NCBI
RGSC_v3.4391,127,605 - 91,149,178 (+)RGD
Celera391,190,477 - 91,211,449 (+)RGD
Sequence:
RefSeq Acc Id: XM_006234633   ⟹   XP_006234695
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83112,590,034 - 112,611,771 (+)NCBI
mRatBN7.2392,135,285 - 92,157,022 (+)NCBI
Rnor_6.0395,706,982 - 95,728,682 (+)NCBI
Rnor_5.03102,320,059 - 102,348,223 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039104376   ⟹   XP_038960304
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83112,590,647 - 112,611,771 (+)NCBI
mRatBN7.2392,135,888 - 92,157,022 (+)NCBI
RefSeq Acc Id: XM_063283158   ⟹   XP_063139228
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83112,590,045 - 112,611,771 (+)NCBI
RefSeq Acc Id: NP_037133   ⟸   NM_013001
- UniProtKB: Q6QHS5 (UniProtKB/Swiss-Prot),   A1A5N7 (UniProtKB/Swiss-Prot),   Q701Q8 (UniProtKB/Swiss-Prot),   P63016 (UniProtKB/Swiss-Prot),   E1AZB1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006234695   ⟸   XM_006234633
- Peptide Label: isoform X1
- UniProtKB: E1AZB1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000006302   ⟸   ENSRNOT00000006302
Ensembl Acc Id: ENSRNOP00000071013   ⟸   ENSRNOT00000089525
Ensembl Acc Id: ENSRNOP00000005882   ⟸   ENSRNOT00000005882
RefSeq Acc Id: XP_038960304   ⟸   XM_039104376
- Peptide Label: isoform X1
- UniProtKB: E1AZB1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063139228   ⟸   XM_063283158
- Peptide Label: isoform X2
- UniProtKB: Q701Q8 (UniProtKB/Swiss-Prot),   Q6QHS5 (UniProtKB/Swiss-Prot),   P63016 (UniProtKB/Swiss-Prot),   A1A5N7 (UniProtKB/Swiss-Prot)
Protein Domains
Homeobox   Paired

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P63016-F1-model_v2 AlphaFold P63016 1-422 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:3258 AgrOrtholog
BioCyc Gene G2FUF-48520 BioCyc
Ensembl Genes ENSRNOG00000004410 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOG00055022908 UniProtKB/Swiss-Prot
  ENSRNOG00060002262 UniProtKB/Swiss-Prot
  ENSRNOG00065015473 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000005882.6 UniProtKB/Swiss-Prot
  ENSRNOT00000006302.8 UniProtKB/TrEMBL
  ENSRNOT00000089525 UniProtKB/TrEMBL
  ENSRNOT00000089525.2 UniProtKB/Swiss-Prot
  ENSRNOT00055039364 UniProtKB/Swiss-Prot
  ENSRNOT00060003572 UniProtKB/Swiss-Prot
  ENSRNOT00065025746 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:8363963 IMAGE-MGC_LOAD
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED_DNA-bd_dom UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Paired_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAX_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:25509 UniProtKB/Swiss-Prot
MGC_CLONE MGC:156670 IMAGE-MGC_LOAD
NCBI Gene 25509 ENTREZGENE
PANTHER PAIRED BOX PROTEIN PAX-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED BOX PROTEIN PAX-6 UniProtKB/TrEMBL
  PTHR45636 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Pax6 PhenoGen
PRINTS PAIREDBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAIRED_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000004410 RatGTEx
  ENSRNOG00055022908 RatGTEx
  ENSRNOG00060002262 RatGTEx
  ENSRNOG00065015473 RatGTEx
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGR TC214153
UniProt A0A0G2JZE2_RAT UniProtKB/TrEMBL
  A0A8L2Q206_RAT UniProtKB/TrEMBL
  A1A5N7 ENTREZGENE
  A6HNX1_RAT UniProtKB/TrEMBL
  A6HNX2_RAT UniProtKB/TrEMBL
  A6HNX4_RAT UniProtKB/TrEMBL
  E1AZB1 ENTREZGENE, UniProtKB/TrEMBL
  P63016 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6QHS5 ENTREZGENE
  Q701Q8 ENTREZGENE
UniProt Secondary A1A5N7 UniProtKB/Swiss-Prot
  P32117 UniProtKB/Swiss-Prot
  P70601 UniProtKB/Swiss-Prot
  Q62222 UniProtKB/Swiss-Prot
  Q64037 UniProtKB/Swiss-Prot
  Q6QHS5 UniProtKB/Swiss-Prot
  Q701Q8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2002-06-10 Pax6  Paired box homeotic gene 6      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease mutations in human homolog are associated with several eye disorders, including aniridia and Peter's anomoly 731242
gene_expression protein expressed in hindbrain and forebrain 731242
gene_mutations_overexpression point mutation in rat (rSey) exhibits abnormal development of hindbrain motor neurons 731242
gene_process controls ventral neurons specification by establishing the correct progenitor domains 729590
gene_process may regulate Isl2 and Wnt7b expression 731242
gene_process involved with the specification of hindbrain motor neuron subtype 731242
gene_process regulates specific neural pathways during forebrain development 731242
gene_process plays role in axon guidance of specific motor neurons in the hindbrain 731242
gene_process role in axon guidance crucial for development of the thalamocortical neuronal pathway 731243