PAX6

PAX6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CUE, 6PAX
Identifiers
Aliases	PAX6, AN, AN2, D11S812E, FVH1, MGDA, WAGR, paired box 6, ASGD5
External IDs	OMIM: 607108; MGI: 97490; HomoloGene: 1212; GeneCards: PAX6; OMA:PAX6 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p13 Start 31,784,779 bp[1] End 31,818,062 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 E3|2 55.31 cM Start 105,499,245 bp[2] End 105,527,709 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in palpebral conjunctiva ventricular zone beta cell paraflocculus of cerebellum ganglionic eminence cerebellar vermis right hemisphere of cerebellum pons external globus pallidus Region I of hippocampus proper Top expressed in neural layer of retina corneal stroma ventricular zone lens corneal epithelium iris epithelium of lens islet of Langerhans ciliary body conjunctival fornix More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding DNA binding sequence-specific DNA binding ubiquitin-protein transferase activity DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific chromatin binding DNA-binding transcription factor activity transcription factor binding protein kinase binding ubiquitin protein ligase binding histone acetyltransferase binding co-SMAD binding R-SMAD binding HMG box domain binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm nucleus nucleoplasm cytosol intracellular anatomical structure Biological process eye development blood vessel development animal organ morphogenesis regulation of transcription, DNA-templated glucose homeostasis transcription, DNA-templated central nervous system development response to wounding cell differentiation cornea development in camera-type eye negative regulation of neurogenesis visual perception iris morphogenesis multicellular organism development neuron fate commitment protein ubiquitination negative regulation of transcription by RNA polymerase II establishment of mitotic spindle orientation cell fate determination neuron migration negative regulation of protein phosphorylation positive regulation of neuroblast proliferation lens development in camera-type eye regionalization type B pancreatic cell differentiation pancreatic A cell development regulation of transcription by RNA polymerase II transcription by RNA polymerase II smoothened signaling pathway axonogenesis axon guidance brain development salivary gland morphogenesis negative regulation of cell population proliferation regulation of asymmetric cell division dorsal/ventral axis specification anterior/posterior pattern specification dorsal/ventral pattern formation regulation of gene expression positive regulation of gene expression pallium development oligodendrocyte cell fate specification cerebral cortex regionalization forebrain dorsal/ventral pattern formation commitment of neuronal cell to specific neuron type in forebrain forebrain-midbrain boundary formation telencephalon regionalization pituitary gland development habenula development signal transduction involved in regulation of gene expression keratinocyte differentiation regulation of cell migration positive regulation of epithelial cell differentiation forebrain development lacrimal gland development protein localization to organelle eye photoreceptor cell development camera-type eye development cell fate commitment negative regulation of neuron differentiation positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II regulation of timing of cell differentiation embryonic camera-type eye morphogenesis astrocyte differentiation negative regulation of epithelial cell proliferation regulation of neurogenesis retina development in camera-type eye cellular response to leukemia inhibitory factor negative regulation of neural precursor cell proliferation positive regulation of core promoter binding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5080 18508 Ensembl ENSG00000007372 ENSMUSG00000027168 UniProt P26367 P63015 RefSeq (mRNA) NM_000280 NM_001127612 NM_001258462 NM_001258463 NM_001258464 NM_001258465 NM_001310158 NM_001310159 NM_001310160 NM_001310161 NM_001604 NM_001244198 NM_001244200 NM_001244201 NM_001244202 NM_013627 NM_001310144 NM_001310145 NM_001310146 RefSeq (protein) NP_000271 NP_001121084 NP_001245391 NP_001245392 NP_001245393 NP_001245394 NP_001297087 NP_001297088 NP_001297089 NP_001297090 NP_001595 NP_001355816 NP_001355817 NP_001355818 NP_001355819 NP_001355820 NP_001355821 NP_001355822 NP_001355823 NP_001355828 NP_001355829 NP_001355830 NP_001355831 NP_001355832 NP_001355833 NP_001355834 NP_001355835 NP_001355836 NP_001355837 NP_001355838 NP_001355839 NP_001355840 NP_001355841 NP_001355842 NP_001355843 NP_001355844 NP_001355845 NP_001355846 NP_001355847 NP_001355848 NP_001355849 NP_001355850 NP_001355851 NP_001355852 NP_001355853 NP_001355854 NP_001355855 NP_001355856 NP_001355857 NP_001355858 NP_001355859 NP_001231127 NP_001231129 NP_001231130 NP_001231131 NP_001297073 NP_001297074 NP_001297075 NP_038655 Location (UCSC) Chr 11: 31.78 – 31.82 Mb Chr 2: 105.5 – 105.53 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.^[5]