Browse PAX6

Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
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.

> Gene Ontology
 
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 and Reactome Pathway
 
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
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
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.
> Text Mining
 

There is no record.
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
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
  Statistical results of PAX6 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
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
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of PAX6 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.160.456
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.1060.788
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.1930.6
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.1050.844
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.1360.909
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.0730.963
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.0650.848
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.7080.272
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.5880.368
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-1.1430.102
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 28-1.4040.123
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682301.4690.00112
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of PAX6 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14177.107.10.452
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103100101
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.72.711
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 01407.1-7.11
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.71.720.532
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21179.509.50.492
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)86250250.473
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.1011.10.36
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59200200.357
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 382703.7-3.70.415
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 161407.1-7.10.467
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
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.
> Lymphocyte
 
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
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
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
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
> Chemokine
 
> Receptor
 
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of PAX6 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between PAX6 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolPAX6
Namepaired box 6
Aliases D11S812E; aniridia, keratitis; AN2; paired box gene 6 (aniridia, keratitis); FVH1; MGDA; aniridia type II pr ......
Chromosomal Location11p13
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting PAX6 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.