| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5080 |
Name | PAX6 |
Synonym | AN|AN2|D11S812E|MGDA|WAGR;paired box 6;PAX6;paired box 6 |
Definition | aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6 |
Position | 11p13 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Maturity onset diabetes of the young;KEGG PATHWAY;hsa04950 |
Pathway | CDC42 signaling events;PID Curated;200057 |
Disease | Coloboma, ocular;OMIM |
Disease | Foveal hyperplasia;OMIM |
Disease | Cataract with late-onset corneal dystrophy;OMIM |
Disease | Peters anomaly;OMIM |
Disease | Bladder cancer;FunDO |
Disease | Adenovirus infection;FunDO |
Disease | Morning glory disc anomaly;OMIM |
Disease | Keratitis;OMIM |
Disease | Congenital abnormality;FunDO |
Disease | Coloboma of optic nerve;OMIM |
Disease | Optic nerve hypoplasia;OMIM |
Disease | Gillespie syndrome;OMIM |
Disease | Aniridia;OMIM |
Disease | Brain tumor;FunDO |
Disease | Hyperopia;FunDO |
Disease | DEVELOPMENTAL;GAD |
Disease | optic nerve malformation;GAD |
External Links | |
Links to Entrez Gene | 5080 |
Links to all GeneRIF Items | 5080 |
Links to iHOP | 5080 |
Sequence Information | |
Nucleotide Sequence | >5080 : length: 1269 atgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggcca ctgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgc gacatttcccgaattctgcaggtgtccaacggatgtgtgagtaaaattctgggcaggtat tacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgact ccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgg gaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtg tcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagac ggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccct ggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacag gaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggct caaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagag caaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccga gaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaat cgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaac acacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattcca caacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacaca gccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataac ctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccacc agcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacac atgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggt gtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaaga ttacagtaa |
Protein Sequence | >5080 : length: 422 MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR LQ |