======= PAX6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PAX6
  * **<color #00a2e8>Official Name</color>**: paired box 6
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5080|5080]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P26367|P26367]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PAX6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PAX6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607108|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. COMPLETENESS: complete on the 3' end. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|PAX|
|Homeobox|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|forebrain-midbrain boundary formation|
|pancreatic A cell development|
|somatic motor neuron fate commitment|
|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment|
|epithalamus development|
|habenula development|
|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification|
|regulation of asymmetric cell division|
|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification|
|oligodendrocyte cell fate specification|
|glial cell fate specification|
|oligodendrocyte cell fate commitment|
|pancreatic A cell differentiation|
|somatic motor neuron differentiation|
|lacrimal gland development|
|positive regulation of core promoter binding|
|commitment of neuronal cell to specific neuron type in forebrain|
|cerebral cortex regionalization|
|forebrain dorsal/ventral pattern formation|
|regulation of core promoter binding|
|cornea development in camera-type eye|
|iris morphogenesis|
|forebrain neuron fate commitment|
|cell fate specification involved in pattern specification|
|ventral spinal cord interneuron specification|
|dorsal/ventral axis specification|
|co-SMAD binding|
|rostrocaudal neural tube patterning|
|spinal cord motor neuron cell fate specification|
|regulation of timing of cell differentiation|
|telencephalon regionalization|
|glial cell fate commitment|
|regulation of development, heterochronic|
|cell fate commitment involved in pattern specification|
|ventral spinal cord interneuron fate commitment|
|HMG box domain binding|
|ventral spinal cord interneuron differentiation|
|regulation of transcription involved in cell fate commitment|
|glandular epithelial cell development|
|type B pancreatic cell differentiation|
|signal transduction involved in regulation of gene expression|
|enteroendocrine cell differentiation|
|spinal cord dorsal/ventral patterning|
|positive regulation of neuroblast proliferation|
|R-SMAD binding|
|negative regulation of neural precursor cell proliferation|
|forebrain regionalization|
|spinal cord patterning|
|positive regulation of transcription regulatory region DNA binding|
|embryonic camera-type eye morphogenesis|
|histone acetyltransferase binding|
|establishment of mitotic spindle orientation|
|salivary gland morphogenesis|
|salivary gland development|
|regulation of neuroblast proliferation|
|establishment of mitotic spindle localization|
|neuron fate specification|
|RNA polymerase II core promoter sequence-specific DNA binding|
|spinal cord motor neuron differentiation|
|eye photoreceptor cell development|
|embryonic eye morphogenesis|
|neural tube patterning|
|establishment of spindle orientation|
|embryonic camera-type eye development|
|glandular epithelial cell differentiation|
|endocrine pancreas development|
|cell fate determination|
|positive regulation of stem cell proliferation|
|pituitary gland development|
|exocrine system development|
|establishment of spindle localization|
|eye photoreceptor cell differentiation|
|photoreceptor cell development|
|spindle localization|
|ventral spinal cord development|
|columnar/cuboidal epithelial cell development|
|forebrain neuron differentiation|
|positive regulation of neural precursor cell proliferation|
|regulation of transcription regulatory region DNA binding|
|astrocyte differentiation|
|cell differentiation in spinal cord|
|positive regulation of DNA binding|
|photoreceptor cell differentiation|
|positive regulation of epithelial cell differentiation|
|neuron fate commitment|
|regulation of stem cell proliferation|
|forebrain generation of neurons|
|oligodendrocyte differentiation|
|pancreas development|
|smoothened signaling pathway|
|diencephalon development|
|lens development in camera-type eye|
|dorsal/ventral pattern formation|
|axis specification|
|cell fate specification|
|regulation of neural precursor cell proliferation|
|columnar/cuboidal epithelial cell differentiation|
|response to leukemia inhibitory factor|
|cellular response to leukemia inhibitory factor|
|gland morphogenesis|
|microtubule cytoskeleton organization involved in mitosis|
|spinal cord development|
|camera-type eye morphogenesis|
|cerebral cortex development|
|establishment of cell polarity|
|neuron migration|
|endocrine system development|
|negative regulation of epithelial cell proliferation|
|regulation of DNA binding|
|retina development in camera-type eye|
|regulation of epithelial cell differentiation|
|eye morphogenesis|
|neural tube development|
|regulation of cell division|
|glial cell differentiation|
|pallium development|
|positive regulation of binding|
|central nervous system neuron differentiation|
|glucose homeostasis|
|carbohydrate homeostasis|
|epithelial cell development|
|establishment or maintenance of cell polarity|
|gliogenesis|
|anterior/posterior pattern specification|
|visual perception|
|sensory perception of light stimulus|
|negative regulation of neuron differentiation|
|nuclear chromatin|
|DNA-binding transcription repressor activity, RNA polymerase II-specific|
|cell fate commitment|
|sensory organ morphogenesis|
|telencephalon development|
|axon guidance|
|neuron projection guidance|
|keratinocyte differentiation|
|embryonic organ morphogenesis|
|negative regulation of neurogenesis|
|ubiquitin protein ligase binding|
|negative regulation of nervous system development|
|camera-type eye development|
|epidermal cell differentiation|
|transcription factor binding|
|regionalization|
|regulation of epithelial cell proliferation|
|negative regulation of cell development|
|eye development|
|visual system development|
|establishment of organelle localization|
|sensory system development|
|axonogenesis|
|regulation of binding|
|skin development|
|forebrain development|
|chromatin binding|
|negative regulation of protein phosphorylation|
|axon development|
|gland development|
|epidermis development|
|cell morphogenesis involved in neuron differentiation|
|embryonic organ development|
|pattern specification process|
|negative regulation of phosphorylation|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|protein kinase binding|
|positive regulation of neurogenesis|
|microtubule cytoskeleton organization|
|neuron projection morphogenesis|
|transcription by RNA polymerase II|
|plasma membrane bounded cell projection morphogenesis|
|blood vessel development|
|cell projection morphogenesis|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|vasculature development|
|cell part morphogenesis|
|cardiovascular system development|
|positive regulation of nervous system development|
|positive regulation of cell development|
|sensory organ development|
|chemotaxis|
|taxis|
|cell morphogenesis involved in differentiation|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|embryonic morphogenesis|
|response to wounding|
|organelle localization|
|negative regulation of protein modification process|
|mitotic cell cycle process|
|chordate embryonic development|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|embryo development ending in birth or egg hatching|
|RNA biosynthetic process|
|regulation of neuron differentiation|
|neuron projection development|
|microtubule-based process|
|DNA-binding transcription factor activity|
|negative regulation of cell population proliferation|
|epithelial cell differentiation|
|mitotic cell cycle|
|negative regulation of cell differentiation|
|cell morphogenesis|
|protein localization to organelle|
|brain development|
|head development|
|neuron development|
|regulation of neurogenesis|
|cellular component morphogenesis|
|tube development|
|regulation of cell migration|
|negative regulation of transcription by RNA polymerase II|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|regulation of cell motility|
|positive regulation of cell population proliferation|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|animal organ morphogenesis|
|cell migration|
|positive regulation of cell differentiation|
|sensory perception|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|regulation of cellular component movement|
|cell cycle process|
|cellular response to cytokine stimulus|
|neuron differentiation|
|negative regulation of cellular protein metabolic process|
|localization of cell|
|cell motility|
|nucleobase-containing compound biosynthetic process|
|response to cytokine|
|negative regulation of protein metabolic process|
|cytoskeleton organization|
|chemical homeostasis|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of transcription, DNA-templated|
|negative regulation of multicellular organismal process|
|positive regulation of transcription by RNA polymerase II|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|organic cyclic compound biosynthetic process|
|locomotion|
|negative regulation of RNA metabolic process|
|cell cycle|
|positive regulation of developmental process|
|nervous system process|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of protein phosphorylation|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|generation of neurons|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|movement of cell or subcellular component|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|regulation of cell population proliferation|
|neurogenesis|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|cell development|
|RNA metabolic process|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|establishment of localization in cell|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.435|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 8333
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.83 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PAX6 Expression in NALM6 Cells: 1.83'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>