Summary | |
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Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Nucleus. |
Domain |
PF00046 Homeobox domain PF00292 'Paired box' domain |
Function |
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes. |
Biological Process |
GO:0000132 establishment of mitotic spindle orientation GO:0000226 microtubule cytoskeleton organization GO:0001654 eye development GO:0001708 cell fate specification GO:0001709 cell fate determination GO:0001754 eye photoreceptor cell differentiation GO:0001764 neuron migration GO:0001933 negative regulation of protein phosphorylation GO:0002052 positive regulation of neuroblast proliferation GO:0002064 epithelial cell development GO:0002065 columnar/cuboidal epithelial cell differentiation GO:0002066 columnar/cuboidal epithelial cell development GO:0002067 glandular epithelial cell differentiation GO:0002068 glandular epithelial cell development GO:0002088 lens development in camera-type eye GO:0003002 regionalization GO:0003309 type B pancreatic cell differentiation GO:0003310 pancreatic A cell differentiation GO:0003322 pancreatic A cell development GO:0007163 establishment or maintenance of cell polarity GO:0007224 smoothened signaling pathway GO:0007389 pattern specification process GO:0007405 neuroblast proliferation GO:0007409 axonogenesis GO:0007411 axon guidance GO:0007423 sensory organ development GO:0007431 salivary gland development GO:0007435 salivary gland morphogenesis GO:0007601 visual perception GO:0008356 asymmetric cell division GO:0008544 epidermis development GO:0009786 regulation of asymmetric cell division GO:0009798 axis specification GO:0009913 epidermal cell differentiation GO:0009950 dorsal/ventral axis specification GO:0009952 anterior/posterior pattern specification GO:0009953 dorsal/ventral pattern formation GO:0010001 glial cell differentiation GO:0010720 positive regulation of cell development GO:0010721 negative regulation of cell development GO:0021510 spinal cord development GO:0021511 spinal cord patterning GO:0021513 spinal cord dorsal/ventral patterning GO:0021514 ventral spinal cord interneuron differentiation GO:0021515 cell differentiation in spinal cord GO:0021517 ventral spinal cord development GO:0021520 spinal cord motor neuron cell fate specification GO:0021521 ventral spinal cord interneuron specification GO:0021522 spinal cord motor neuron differentiation GO:0021523 somatic motor neuron differentiation GO:0021532 neural tube patterning GO:0021536 diencephalon development GO:0021537 telencephalon development GO:0021538 epithalamus development GO:0021543 pallium development GO:0021778 oligodendrocyte cell fate specification GO:0021779 oligodendrocyte cell fate commitment GO:0021780 glial cell fate specification GO:0021781 glial cell fate commitment GO:0021796 cerebral cortex regionalization GO:0021798 forebrain dorsal/ventral pattern formation GO:0021871 forebrain regionalization GO:0021872 forebrain generation of neurons GO:0021877 forebrain neuron fate commitment GO:0021879 forebrain neuron differentiation GO:0021902 commitment of neuronal cell to specific neuron type in forebrain GO:0021903 rostrocaudal neural tube patterning 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:0021915 neural tube development GO:0021917 somatic motor neuron fate commitment GO:0021918 regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment GO:0021953 central nervous system neuron differentiation GO:0021978 telencephalon regionalization GO:0021983 pituitary gland development GO:0021986 habenula development GO:0021987 cerebral cortex development GO:0022612 gland morphogenesis GO:0023019 signal transduction involved in regulation of gene expression GO:0030010 establishment of cell polarity GO:0030216 keratinocyte differentiation GO:0030856 regulation of epithelial cell differentiation GO:0030858 positive regulation of epithelial cell differentiation GO:0030900 forebrain development GO:0031016 pancreas development GO:0031018 endocrine pancreas development GO:0031076 embryonic camera-type eye development GO:0032808 lacrimal gland development GO:0033500 carbohydrate homeostasis GO:0035270 endocrine system development GO:0035272 exocrine system development GO:0035883 enteroendocrine cell differentiation GO:0040001 establishment of mitotic spindle localization GO:0040034 regulation of development, heterochronic GO:0042063 gliogenesis GO:0042326 negative regulation of phosphorylation GO:0042461 photoreceptor cell development GO:0042462 eye photoreceptor cell development GO:0042593 glucose homeostasis GO:0043010 camera-type eye development GO:0043588 skin development GO:0045165 cell fate commitment GO:0045665 negative regulation of neuron differentiation GO:0046530 photoreceptor cell differentiation GO:0048048 embryonic eye morphogenesis GO:0048505 regulation of timing of cell differentiation GO:0048562 embryonic organ morphogenesis GO:0048568 embryonic organ development GO:0048592 eye morphogenesis GO:0048593 camera-type eye morphogenesis GO:0048596 embryonic camera-type eye morphogenesis GO:0048663 neuron fate commitment GO:0048665 neuron fate specification GO:0048667 cell morphogenesis involved in neuron differentiation GO:0048708 astrocyte differentiation GO:0048709 oligodendrocyte differentiation GO:0048732 gland development GO:0050673 epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation GO:0050680 negative regulation of epithelial cell proliferation GO:0050768 negative regulation of neurogenesis GO:0050769 positive regulation of neurogenesis GO:0050953 sensory perception of light stimulus GO:0051293 establishment of spindle localization GO:0051294 establishment of spindle orientation GO:0051302 regulation of cell division GO:0051640 organelle localization GO:0051653 spindle localization GO:0051656 establishment of organelle localization GO:0051961 negative regulation of nervous system development GO:0051962 positive regulation of nervous system development GO:0060041 retina development in camera-type eye GO:0060573 cell fate specification involved in pattern specification GO:0060579 ventral spinal cord interneuron fate commitment GO:0060581 cell fate commitment involved in pattern specification GO:0060850 regulation of transcription involved in cell fate commitment GO:0061072 iris morphogenesis GO:0061303 cornea development in camera-type eye GO:0061351 neural precursor cell proliferation GO:0061564 axon development GO:0072089 stem cell proliferation GO:0072091 regulation of stem cell proliferation GO:0090596 sensory organ morphogenesis GO:0097485 neuron projection guidance GO:1902692 regulation of neuroblast proliferation GO:2000177 regulation of neural precursor cell proliferation GO:2000178 negative regulation of neural precursor cell proliferation GO:2000179 positive regulation of neural precursor cell proliferation GO:2000648 positive regulation of stem cell proliferation |
Molecular Function |
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:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001047 core promoter binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001159 core promoter proximal region DNA 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:0003682 chromatin binding GO:0004842 ubiquitin-protein transferase activity GO:0008134 transcription factor binding GO:0019787 ubiquitin-like protein transferase activity GO:0031625 ubiquitin protein ligase binding GO:0035035 histone acetyltransferase binding GO:0044389 ubiquitin-like protein ligase binding GO:0046332 SMAD binding GO:0070410 co-SMAD binding GO:0070412 R-SMAD binding GO:0071837 HMG box domain binding |
Cellular Component |
GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0044454 nuclear chromosome part |
KEGG |
hsa04550 Signaling pathways regulating pluripotency of stem cells |
Reactome |
R-HSA-5619507: Activation of HOX genes during differentiation R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-1266738: Developmental Biology R-HSA-400508: Incretin synthesis, secretion, and inactivation R-HSA-392499: Metabolism of proteins R-HSA-2980736: Peptide hormone metabolism R-HSA-186712: Regulation of beta-cell development R-HSA-210745: Regulation of gene expression in beta cells R-HSA-381771: Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) R-HSA-400511: Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) |
Summary | |
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Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between PAX6 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
---|---|
Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of PAX6 in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of PAX6 in various data sets.
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Points in the above scatter plot represent the mutation difference of PAX6 in various data sets.
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Summary | |
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Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of PAX6. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
---|---|
Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of PAX6. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by PAX6. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of PAX6. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
---|---|
Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of PAX6 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between PAX6 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | PAX6 |
Name | paired box 6 |
Aliases | D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ...... |
Chromosomal Location | 11p13 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting PAX6 collected from DrugBank database. |
There is no record. |