PAX6
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Homo sapiens |
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PAX6 is differentially expressed in 225 experiments: 160 organism parts: cerebellum, lung, ... (158 more);, 143 disease states: normal, glioblastoma, ... (141 more);, 63 cell types 483 cell lines 27 compound treatments and 69 other conditions. |
| Synonyms |
AN2, AN, WAGR, D11S812E |
| Orthologs |
Pax6
(Mus musculus)
pax6a
(Danio rerio)
PAX6_BOVIN
(Bos taurus)
Pax6
(Rattus norvegicus)
pax6b
(Danio rerio)
F6PW95_CIOIN
(Ciona intestinalis)
PAX6_CHICK
(Gallus gallus)
ey
(Drosophila melanogaster)
toy
(Drosophila melanogaster)
LOC100485335
(Xenopus laevis)
A4UHF5_CANFA
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology ID |
GO:0009887, GO:0003677, GO:0010628, GO:0009953, GO:0009952, GO:0009950, GO:0008285, GO:0010468, GO:0003700, GO:0016567, GO:0009611, GO:0007275, GO:0007224, GO:0007435, GO:0007420, GO:0007411, GO:0007417, GO:0007409, GO:0042462, GO:0007601, GO:0042593, GO:0048505, GO:0005622, GO:0005515, GO:0004842, GO:0005737, GO:0005634, GO:0002052, GO:0050680, GO:0050767, GO:0050768, GO:0000790, GO:0031625, GO:0001764, GO:0006355, GO:0006357, GO:0006351, GO:0001709, GO:0006366, GO:0045944, GO:0043565, GO:0045893, GO:0001654, GO:0030154, GO:0045165, GO:0030334, GO:0048708, GO:0048663, GO:0048596, GO:0030900, GO:0002088, GO:0030858, GO:0043010, GO:0032808, GO:0044424, GO:0045665, GO:0001568, GO:0044212, GO:0021912, GO:0021913, GO:0021918, GO:0021905, GO:0021902, GO:0021983, GO:0070412, GO:0070410, GO:0033365, GO:0021798, GO:0021797, GO:0021796, GO:0021778, GO:0030216, GO:0021543, GO:0061072, GO:0000981, GO:0000979, GO:0023019, GO:0071837, GO:0003322, GO:0061303 |
| InterPro ID |
IPR001523, IPR001356 |
| Gene Ontology Term |
DNA binding, protein binding, response to wounding, regulation of transcription, DNA-dependent, cytoplasm, nuclear chromatin, intracellular, negative regulation of cell proliferation, cell fate determination, transcription, DNA-dependent, protein ubiquitination, visual perception, positive regulation of gene expression, regulation of neurogenesis, salivary gland morphogenesis, transcription from RNA polymerase II promoter, smoothened signaling pathway, glucose homeostasis, cell differentiation, positive regulation of neuroblast proliferation, sequence-specific DNA binding, axon guidance, positive regulation of transcription from RNA polymerase II promoter, multicellular organismal development, nucleus, eye photoreceptor cell development, regulation of gene expression, regulation of cell migration, regulation of timing of cell differentiation, ubiquitin-protein ligase activity, cell fate commitment, axonogenesis, eye development, regulation of transcription from RNA polymerase II promoter, negative regulation of epithelial cell proliferation, brain development, negative regulation of neurogenesis, positive regulation of transcription, DNA-dependent, organ morphogenesis, dorsal/ventral axis specification, central nervous system development, ubiquitin protein ligase binding, dorsal/ventral pattern formation, neuron migration, cerebral cortex regionalization, pituitary gland development, intracellular part, regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment, pallium development, forebrain development, regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification, astrocyte differentiation, co-SMAD binding, keratinocyte differentiation, forebrain-midbrain boundary formation, lacrimal gland development, blood vessel development, negative regulation of neuron differentiation, embryonic camera-type eye morphogenesis, regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification, camera-type eye development, neuron fate commitment, positive regulation of epithelial cell differentiation, oligodendrocyte cell fate specification, forebrain dorsal/ventral pattern formation, R-SMAD binding, lens development in camera-type eye, sequence-specific DNA binding transcription factor activity, protein localization to organelle, iris morphogenesis, signal transduction involved in regulation of gene expression, RNA polymerase II core promoter sequence-specific DNA binding, sequence-specific DNA binding RNA polymerase II transcription factor activity, HMG box domain binding, transcription regulatory region DNA binding, pancreatic A cell development, commitment of neuronal cell to specific neuron type in forebrain, cornea development in camera-type eye, anterior/posterior pattern specification, forebrain anterior/posterior pattern specification |
| InterPro Term |
Paired_box_N, Homeobox |
| Ensembl Family Description |
PAIRED BOX PAX |
| Ensembl Family |
ENSFM00440000236845 |
| Gene-Disease Assocation |
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME, ECTOPIA PUPILLAE, ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION, KERATITIS, HEREDITARY, CATARACT, AUTOSOMAL DOMINANT, PETERS ANOMALY, COLOBOMA OF OPTIC NERVE, COLOBOMA, OCULAR, OPTIC NERVE HYPOPLASIA, BILATERAL, ANIRIDIA; AN |
| UniGene ID |
Hs.270303, Hs.611376, Hs.502235, Hs.694375 |
| Ensembl Protein ID |
ENSP00000388132, ENSP00000241001, ENSP00000397384, ENSP00000368427, ENSP00000368424, ENSP00000368418, ENSP00000368410, ENSP00000368401, ENSP00000368403, ENSP00000368406, ENSP00000404356, ENSP00000404100, ENSP00000436365, ENSP00000450579, ENSP00000450552, ENSP00000450775, ENSP00000431585, ENSP00000431961, ENSP00000435884, ENSP00000435975, ENSP00000452202, ENSP00000452558, ENSP00000451372, ENSP00000451901, ENSP00000451885 |
| EMBL-Bank ID |
AB209177, Z95332, AY707088, BC011953, AY047583, CH471064, BX640762, AY337852, Z83307, M93650, M77844, AB593094, AB593092, AB593093, HQ397714 |
| RefSeq ID |
NP_001121084, NM_001604, NM_001127612, NP_001595, NP_000271, NM_000280 |
| HGNC Symbol |
PAX6 |
| UniProt Accession |
P26367, Q66SS1, B1B1I8, B1B1I9, B1B1J0, D3DQZ8, Q6VMP0, Q59GD2, E9PS79, E9PRP9, F1T0F8, E9PIX4, E9PKM0, E5LBD7 |
| Ensembl Gene ID |
ENSG00000007372 |
| Description |
paired box 6 [Source:HGNC Symbol;Acc:8620] |
| Entrez Gene ID |
5080 |
| Ensembl Transcript ID |
ENST00000379115, ENST00000379123, ENST00000379129, ENST00000379132, ENST00000379111, ENST00000379109, ENST00000379107, ENST00000532916, ENST00000530714, ENST00000419022, ENST00000530373, ENST00000471303, ENST00000534390, ENST00000534353, ENST00000438681, ENST00000532175, ENST00000531910, ENST00000481563, ENST00000241001, ENST00000527769, ENST00000525535, ENST00000494377, ENST00000531633, ENST00000464174, ENST00000474783, ENST00000470027, ENST00000524853, ENST00000455099, ENST00000423822, ENST00000533333, ENST00000533156 |
| Design Element |
ENST00000525535, 89571_i_at, Hs.65264.0.A1_3p_at, ENST00000531910, ENST00000419022, ENST00000533333, M93650_at, ENST00000379123, ENST00000532916, ENST00000534353, ENST00000379129, ENST00000241001, ENST00000379109, ENST00000530714, ENST00000379107, ENST00000438681, ENST00000533156, ENST00000464174, ENST00000470027, ENST00000423822, ENST00000534390, ENST00000532175, 235795_at, ENST00000481563, ENST00000531633, ENST00000524853, ENST00000379132, 89573_f_at, ENST00000455099, ENST00000379111, 205646_s_at, ENST00000530373, ENST00000471303, ENST00000379115, ENST00000527769, ENST00000474783, 40740_at, ENST00000494377, g4505614_3p_s_at |
| Search EB-eye |
ENSG00000007372
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