PAX6 Dynodwyr Cyfenwau PAX6 Dynodwyr allanol OMIM: 607108 HomoloGene: 1212 GeneCards: PAX6 Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • DNA binding • sequence-specific DNA binding • GO:0050372 ubiquitin-protein transferase activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • chromatin binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 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 • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • cytoplasm • cnewyllyn cell • nucleoplasm • cytosol • intracellular anatomical structure Prosesau biolegol • eye development • blood vessel development • animal organ morphogenesis • GO:0009373 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 • golwg • iris morphogenesis • multicellular organism development • neuron fate commitment • protein ubiquitination • GO:1901227 negative regulation of transcription by RNA polymerase II • establishment of mitotic spindle orientation • cell fate determination • neuron migration • GO:0033128 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 • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 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 • GO:1901313 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 • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 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
Orthologau Species Bod dynol Llygoden Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Lleoliad (UCSC) n/a n/a PubMed search[ 1] n/a Wicidata
Protein sy'n cael ei godio yn y corff dynol gan y genyn PAX6 yw PAX6 a elwir hefyd yn Paired box protein Pax-6 a Paired box 6 (Saesneg). Segment o DNA yw'r genyn , sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 11, band 11p13.[ 2]
Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PAX6.
AN
AN2
FVH1
MGDA
WAGR
ASGD5
D11S812E
"Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. ". Can J Ophthalmol . 2017. PMID 29217025 . "Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia. ". Gene . 2017. PMID 28760551 . "Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia. ". Indian J Ophthalmol . 2017. PMID 28300742 . "Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ". Eye (Lond) . 2017. PMID 28157223 . "PAX6 regulates human corneal epithelium cell identity. ". Exp Eye Res . 2017. PMID 27818314 . 
