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Basal cell carcinomas as well as a few cases of ovarian and cervical cancers showed moderate nuclear immunoreactivity. Remaining cancer tissues were generally negative.
A few cases of cervical, skin, ovarian and testicular cancers exhibited weak to moderate nuclear positivity. Remaining cancer cells were in general negative.
GENE INFORMATION
Gene name
PAX6 (HGNC Symbol)
Synonyms
AN, AN2, D11S812E, WAGR
Description
Paired box 6 (HGNC Symbol)
Entrez gene summary
This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
P26367 [Direct mapping] Paired box protein Pax-6 F1T0F8 [Target identity:100%; Query identity:100%] Paired box protein Pax-6
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SCAMPI predicted membrane proteins Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000790 [nuclear chromatin] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007417 [central nervous system development] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0009611 [response to wounding] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0035035 [histone acetyltransferase binding] GO:0042593 [glucose homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048663 [neuron fate commitment] GO:0050768 [negative regulation of neurogenesis] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070412 [R-SMAD binding]
P26367 [Direct mapping] Paired box protein Pax-6 Q66SS1 [Target identity:100%; Query identity:100%] Paired box gene 6 isoform a
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Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000790 [nuclear chromatin] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007417 [central nervous system development] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0009611 [response to wounding] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0035035 [histone acetyltransferase binding] GO:0042593 [glucose homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048663 [neuron fate commitment] GO:0050768 [negative regulation of neurogenesis] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070412 [R-SMAD binding]
P26367 [Direct mapping] Paired box protein Pax-6 Q66SS1 [Target identity:100%; Query identity:100%] Paired box gene 6 isoform a
Show all
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000790 [nuclear chromatin] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007417 [central nervous system development] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0009611 [response to wounding] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0035035 [histone acetyltransferase binding] GO:0042593 [glucose homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048663 [neuron fate commitment] GO:0050768 [negative regulation of neurogenesis] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070412 [R-SMAD binding]
P26367 [Direct mapping] Paired box protein Pax-6 F1T0F8 [Target identity:100%; Query identity:100%] Paired box protein Pax-6
Show all
SCAMPI predicted membrane proteins Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000790 [nuclear chromatin] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007417 [central nervous system development] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0009611 [response to wounding] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0035035 [histone acetyltransferase binding] GO:0042593 [glucose homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048663 [neuron fate commitment] GO:0050768 [negative regulation of neurogenesis] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070412 [R-SMAD binding]
P26367 [Direct mapping] Paired box protein Pax-6 F1T0F8 [Target identity:100%; Query identity:100%] Paired box protein Pax-6
Show all
SCAMPI predicted membrane proteins Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000790 [nuclear chromatin] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007417 [central nervous system development] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0009611 [response to wounding] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0035035 [histone acetyltransferase binding] GO:0042593 [glucose homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048663 [neuron fate commitment] GO:0050768 [negative regulation of neurogenesis] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070412 [R-SMAD binding]
P26367 [Direct mapping] Paired box protein Pax-6 F1T0F8 [Target identity:100%; Query identity:100%] Paired box protein Pax-6
Show all
SCAMPI predicted membrane proteins Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000132 [establishment of mitotic spindle orientation] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0001709 [cell fate determination] GO:0001764 [neuron migration] GO:0001933 [negative regulation of protein phosphorylation] GO:0002052 [positive regulation of neuroblast proliferation] GO:0002088 [lens development in camera-type eye] GO:0003309 [type B pancreatic cell differentiation] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007224 [smoothened signaling pathway] GO:0007409 [axonogenesis] GO:0007411 [axon guidance] GO:0007417 [central nervous system development] GO:0007420 [brain development] GO:0007435 [salivary gland morphogenesis] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0008285 [negative regulation of cell proliferation] GO:0009611 [response to wounding] GO:0009786 [regulation of asymmetric cell division] GO:0009887 [organ morphogenesis] GO:0009950 [dorsal/ventral axis specification] GO:0009952 [anterior/posterior pattern specification] GO:0009953 [dorsal/ventral pattern formation] GO:0010468 [regulation of gene expression] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0021543 [pallium development] GO:0021778 [oligodendrocyte cell fate specification] GO:0021796 [cerebral cortex regionalization] GO:0021797 [forebrain anterior/posterior pattern specification] GO:0021798 [forebrain dorsal/ventral pattern formation] GO:0021902 [commitment of neuronal cell to specific neuron type in forebrain] GO:0021905 [forebrain-midbrain boundary formation] GO:0021912 [regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification] GO:0021913 [regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification] GO:0021918 [regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment] GO:0021978 [telencephalon regionalization] GO:0021983 [pituitary gland development] GO:0023019 [signal transduction involved in regulation of gene expression] GO:0030154 [cell differentiation] GO:0030216 [keratinocyte differentiation] GO:0030334 [regulation of cell migration] GO:0030858 [positive regulation of epithelial cell differentiation] GO:0030900 [forebrain development] GO:0031625 [ubiquitin protein ligase binding] GO:0032808 [lacrimal gland development] GO:0033365 [protein localization to organelle] GO:0035035 [histone acetyltransferase binding] GO:0042462 [eye photoreceptor cell development] GO:0042593 [glucose homeostasis] GO:0043010 [camera-type eye development] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045165 [cell fate commitment] GO:0045665 [negative regulation of neuron differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048505 [regulation of timing of cell differentiation] GO:0048596 [embryonic camera-type eye morphogenesis] GO:0048663 [neuron fate commitment] GO:0048708 [astrocyte differentiation] GO:0050680 [negative regulation of epithelial cell proliferation] GO:0050767 [regulation of neurogenesis] GO:0050768 [negative regulation of neurogenesis] GO:0060041 [retina development in camera-type eye] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070410 [co-SMAD binding] GO:0070412 [R-SMAD binding] GO:0071837 [HMG box domain binding] GO:2000178 [negative regulation of neural precursor cell proliferation]
P26367 [Direct mapping] Paired box protein Pax-6 F1T0F8 [Target identity:100%; Query identity:100%] Paired box protein Pax-6
Show all
SCAMPI predicted membrane proteins Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000790 [nuclear chromatin] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001568 [blood vessel development] GO:0001654 [eye development] GO:0003322 [pancreatic A cell development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007417 [central nervous system development] GO:0007601 [visual perception] GO:0008134 [transcription factor binding] GO:0009611 [response to wounding] GO:0009887 [organ morphogenesis] GO:0010628 [positive regulation of gene expression] GO:0016567 [protein ubiquitination] GO:0019901 [protein kinase binding] GO:0035035 [histone acetyltransferase binding] GO:0042593 [glucose homeostasis] GO:0043565 [sequence-specific DNA binding] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048663 [neuron fate commitment] GO:0050768 [negative regulation of neurogenesis] GO:0061072 [iris morphogenesis] GO:0061303 [cornea development in camera-type eye] GO:0070412 [R-SMAD binding]