| Gene ID | 5080 |
| Symbol | PAX6 |
| Synonymous | AN|AN2|D11S812E|FVH1|MGDA|WAGR |
| Full name | paired box 6 |
| Gene description | aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6 |
| Cytoband | 11p13 |
| Gene type | protein-coding |
| Synonymous | MIM:607108; HGNC:HGNC:8620; Ensembl:ENSG00000007372; HPRD:06167 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >5080 : length: 6969 AATATTTTGTGTGAGAGCGAGCGGTGCATTTGCATGTTGCGGAGTGATTAGTGGGTTTGAAAAGGGAACCGTGGCTCGGCCTCATTTCCCGCTCTGGTTCAGGCGCAGGAGGAAGTGTTT TGCTGGAGGATGATGACAGAGGTCAGGCTTCGCTAATGGGCCAGTGAGGAGCGGTGGAGGCGAGGCCGGGCGCCGGCACACACACATTAACACACTTGAGCCATCACCAATCAGCATAGG AATCTGAGAATTGCTCTCACACACCAACCCAGCAACATCCGTGGAGAAAACTCTCACCAGCAACTCCTTTAAAACACCGTCATTTCAAACCATTGTGGTCTTCAAGCAACAACAGCAGCA CAAAAAACCCCAACCAAACAAAACTCTTGACAGAAGCTGTGACAACCAGAAAGGATGCCTCATAAAGGGGGAAGACTTTAACTAGGGGCGCGCAGATGTGTGAGGCCTTTTATTGTGAGA GTGGACAGACATCCGAGATTTCAGAGCCCCATATTCGAGCCCCGTGGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACAGTCACAGCGGAGTGAATCAGCTCGGTGGTGTCTTT GTCAACGGGCGGCCACTGCCGGACTCCACCCGGCAGAAGATTGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCTGCAGGTGTCCAACGGATGTGTGAGTAAA ATTCTGGGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCG TCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGCGTGTCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAA CAGATGGGCGCAGACGGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAGAT GGCTGCCAGCAACAGGAAGGAGGGGGAGAGAATACCAACTCCATCAGTTCCAACGGAGAAGATTCAGATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACA TCCTTTACCCAAGAGCAAATTGAGGCCCTGGAGAAAGAGTTTGAGAGAACCCATTATCCAGATGTGTTTGCCCGAGAAAGACTAGCAGCCAAAATAGATCTACCTGAAGCAAGAATACAG GTATGGTTTTCTAATCGAAGGGCCAAATGGAGAAGAGAAGAAAAACTGAGGAATCAGAGAAGACAGGCCAGCAACACACCTAGTCATATTCCTATCAGCAGTAGTTTCAGCACCAGTGTC TACCAACCAATTCCACAACCCACCACACCGGTTTCCTCCTTCACATCTGGCTCCATGTTGGGCCGAACAGACACAGCCCTCACAAACACCTACAGCGCTCTGCCGCCTATGCCCAGCTTC ACCATGGCAAATAACCTGCCTATGCAACCCCCAGTCCCCAGCCAGACCTCCTCATACTCCTGCATGCTGCCCACCAGCCCTTCGGTGAATGGGCGGAGTTATGATACCTACACCCCCCCA CATATGCAGACACACATGAACAGTCAGCCAATGGGCACCTCGGGCACCACTTCAACAGGACTCATTTCCCCTGGTGTGTCAGTTCCAGTTCAAGTTCCCGGAAGTGAACCTGATATGTCT CAATACTGGCCAAGATTACAGTAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGAAATATTGTGTTAATTCAGTCAGTGACTATGGGGACACAACAGTTGAGCTTTCAGGAAAGAAAGAAAA ATGGCTGTTAGAGCCGCTTCAGTTCTACAATTGTGTCCTGTATTGTACCACTGGGGAAGGAATGGACTTGAAACAAGGACCTTTGTATACAGAAGGCACGATATCAGTTGGAACAAATCT TCATTTTGGTATCCAAACTTTTATTCATTTTGGTGTATTATTTGTAAATGGGCATTTGTATGTTATAATGAAAAAAAGAACAATGTAGACTGGATGGATGTTTGATCTGTGTTGGTCATG AAGTTGTTTTTTTTTTTTTTAAAAAGAAAACCATGATCAACAAGCTTTGCCACGAATTTAAGAGTTTTATCAAGATATATCGAATACTTCTACCCATCTGTTCATAGTTTATGGACTGAT GTTCCAAGTTTGTATCATTCCTTTGCATATAATTAAACCTGGAACAACATGCACTAGATTTATGTCAGAAATATCTGTTGGTTTTCCAAAGGTTGTTAACAGATGAAGTTTATGTGCAAA AAAGGGTAAGATATAAATTCAAGGAAGAAAAAAAGTTGATAGCTAAAAGGTAGAGTGTGTCTTCGATATAATCCAATTTGTTTTATGTCAAAATGTAAGTATTTGTCTTCCCTAGAAATC CTCAGAATGATTTCTATAATAAAGTTAATTTCATTTATATTTGACAAGAATATAGATGTTTTATACACATTTTCATGCAATCATACGTTTCTTTTTTGGCCAGCAAAAGTTAATTGTTCT TAGATATAGTTGTATTACTGTTCACGGTCCAATCATTTTGTGCATCTAGAGTTCATTCCTAATCAATTAAAAGTGCTTGCAAGAGTTTTAAACTTAAGTGTTTTGAAGTTGTTCACAACT ACATATCAAAATTAACCATTGTTGATTGTAAAAAACCATGCCAAAGCCTTTGTATTTCCTTTATTATACAGTTTTCTTTTTAACCTTATAGTGTGGTGTTACAAATTTTATTTCCATGTT AGATCAACATTCTAAACCAATGGTTACTTTCACACACACTCTGTTTTACATCCTGATGATCCTTAAAAAATAATCCTTATAGATACCATAAATCAAAAACGTGTTAGAAAAAAATTCCAC TTACAGCAGGGTGTAGATCTGTGCCCATTTATACCCACAACATATATACAAAATGGTAACATTTCCCAGTTAGCCATTTAATTCTAAAGCTCAAAGTCTAGAAATAATTTAAAAATGCAA CAAGCGATTAGCTAGGAATTGTTTTTTGAATTAGGACTGGCATTTTCAATCTGGGCAGATTTCCATTGTCAGCCTATTTCAACAATGATTTCACTGAAGTATATTCAAAAGTAGATTTCT TAAAGGAGACTTTCTGAAAGCTGTTGCCTTTTTCAAATAGGCCCTCTCCCTTTTCTGTCTCCCTCCCCTTTGCACAAGAGGCATCATTTCCCATTGAACCACTACAGCTGTTCCCATTTG AATCTTGCTTTCTGTGCGGTTGTGGATGGTTGGAGGGTGGAGGGGGGATGTTGCATGTCAAGGAATAATGAGCACAGACACATCAACAGACAACAACAAAGCAGACTGTGACTGGCCGGT GGGAATTAAAGGCCTTCAGTCATTGGCAGCTTAAGCCAAACATTCCCAAATCTATGAAGCAGGGCCCATTGTTGGTCAGTTGTTATTTGCAATGAAGCACAGTTCTGATCATGTTTAAAG TGGAGGCACGCAGGGCAGGAGTGCTTGAGCCCAAGCAAAGGATGGAAAAAAATAAGCCTTTGTTGGGTAAAAAAGGACTGTCTGAGACTTTCATTTGTTCTGTGCAACATATAAGTCAAT ACAGATAAGTCTTCCTCTGCAAACTTCACTAAAAAGCCTGGGGGTTCTGGCAGTCTAGATTAAAATGCTTGCACATGCAGAAACCTCTGGGGACAAAGACACACTTCCACTGAATTATAC TCTGCTTTAAAAAAATCCCCAAAAGCAAATGATCAGAAATGTAGAAATTAATGGAAGGATTTAAACATGACCTTCTCGTTCAATATCTACTGTTTTTTAGTTAAGGAATTACTTGTGAAC AGATAATTGAGATTCATTGCTCCGGCATGAAATATACTAATAATTTTATTCCACCAGAGTTGCTGCACATTTGGAGACACCTTCCTAAGTTGCAGTTTTTGTATGTGTGCATGTAGTTTT GTTCAGTGTCAGCCTGCACTGCACAGCAGCACATTTCTGCAGGGGAGTGAGCACACATACGCACTGTTGGTACAATTGCCGGTGCAGACATTTCTACCTCCTGACATTTTGCAGCCTACA TTCCCTGAGGGCTGTGTGCTGAGGGAACTGTCAGAGAAGGGCTATGTGGGAGTGCATGCCACAGCTGCTGGCTGGCTTACTTCTTCCTTCTCGCTGGCTGTAATTTCCACCACGGTCAGG CAGCCAGTTCCGGCCCACGGTTCTGTTGTGTAGACAGCAGAGACTTTGGAGACCCGGATGTCGCACGCCAGGTGCAAGAGGTGGGAATGGGAGAAAAGGAGTGACGTGGGAGCGGAGGGT CTGTATGTGTGCACTTGGGCACGTATATGTGTGCTCTGAAGGTCAGGATTGCCAGGGCAAAGTAGCACAGTCTGGTATAGTCTGAAGAAGCGGCTGCTCAGCTGCAGAAGCCCTCTGGTC CGGCAGGATGGGAACGGCTGCCTTGCCTTCTGCCCACACCCTAGGGACATGAGCTGTCCTTCCAAACAGAGCTCCAGGCACTCTCTTGGGGACAGCATGGCAGGCTCTGTGTGGTAGCAG TGCCTGGGAGTTGGCCTTTTACTCATTGTTGAAATAATTTTTGTTTATTATTTATTTAACGATACATATATTTATATATTTATCAATGGGGTATCTGCAGGGATGTTTTGACACCATCTT CCAGGATGGAGATTATTTGTGAAGACTTCAGTAGAATCCCAGGACTAAACGTCTAAATTTTTTCTCCAAACTTGACTGACTTGGGAAAACCAGGTGAATAGAATAAGAGCTGAATGTTTT AAGTAATAAACGTTCAAACTGCTCTAAGTAAAAAAATGCATTTTACTGCAATGAATTTCTAGAATATTTTTCCCCCAAAGCTATGCCTCCTAACCCTTAAATGGTGAACAACTGGTTTCT TGCTACAGCTCACTGCCATTTCTTCTTACTATCATCACTAGGTTTCCTAAGATTCACTCATACAGTATTATTTGAAGATTCAGCTTTGTTCTGTGAATGTCATCTTAGGATTGTGTCTAT ATTCTTTTGCTTATTTCTTTTTACTCTGGGCCTCTCATACTAGTAAGATTTTAAAAAGCCTTTTCTTCTCTGTATGTTTGGCTCACCAAGGCGAAATATATATTCTTCTCTTTTTCATTT CTCAAGAATAAACCTCATCTGCTTTTTTGTTTTTCTGTGTTTTGGCTTGGTACTGAATGACTCAACTGCTCGGTTTTAAAGTTCAAAGTGTAAGTACTTAGGGTTAGTACTGCTTATTTC AATAATGTTGACGGTGACTATCTTTGGAAAGCAGTAACATGCTGTCTTAGAAATGACATTAATAATGGGCTTAAACAAATGAATAGGGGGGTCCCCCCACTCTCCTTTTGTATGCCTATG TGTGTCTGATTTGTTAAAAGATGGACAGGGAATTGATTGCAGAGTGTCGCTTCCTTCTAAAGTAGTTTTATTTTGTCTACTGTTAGTATTTAAAGATCCTGGAGGTGGACATAAGGAATA AATGGAAGAGAAAAGTAGATATTGTATGGTGGCTACTAAAAGGAAATTCAAAAAGTCTTAGAACCCGAGCACCTGAGCAAACTGCAGTAGTCAAAATATTTATCTCATGTTAAAGAAAGG CAAATCTAGTGTAAGAAATGAGTACCATATAGGGTTTTGAAGTTCATATACTAGAAACACTTAAAAGATATCATTTCAGATATTACGTTTGGCATTGTTCTTAAGTATTTATATCTTTGA GTCAAGCTGATAATTAAAAAAAATCTGTTAATGGAGTGTATATTTCATAATGTATCAAAATGGTGTCTATACCTAAGGTAGCATTATTGAAGAGAGATATGTTTATGTAGTAAGTTATTA ACATAATGAGTAACAAATAATGTTTCCAGAAGAAAGGAAAACACATTTTCAGAGTGCGTTTTTATCAGAGGAAGACAAAAATACACACCCCTCTCCAGTAGCTTATTTTTACAAAGCCGG CCCAGTGAATTAGAAAAACAAAGCACTTGGATATGATTTTTGGAAAGCCCAGGTACACTTATTATTCAAAATGCACTTTTACTGAGTTTGAAAAGTTTCTTTTATATTTAAAATAAGGGT TCAAATATGCATATTCAATTTTTATAGTAGTTATCTATTTGCAAAGCATATATTAACTAGTAATTGGCTGTTAATTTTATAGACATGGTAGCCAGGGAAGTATATCAATGACCTATTAAG TATTTTGACAAGCAATTTACATATCTGATGACCTCGTATCTCTTTTTCAGCAAGTCAAATGCTATGTAATTGTTCCATTGTGTGTTGTATAAAATGAATCAACACGGTAAGAAAAAGGTT AGAGTTATTAAAATAATAAACTGACTAAAATACTCATTTGAATTTATTCAGAATGTTCATAATGCTTTCAAAGGACATAGCAGAGCTTTTGTGGAGTATCCGCACAACATTATTTATTAT CTATGGACTAAATCAATTTTTTGAAGTTGCTTTAAAATTTAAAAGCACCTTTGCTTAATATAAAGCCCTTTAATTTTAACTGACAGATCAATTCTGAAACTTTATTTTGAAAAGAAAATG GGGAAGAATCTGTGTCTTTAGAATTAAAAGAAATGAAAAAAATAAACCCGACATTCTAAAAAAATAGAATAAGAAACCTGATTTTTAGTACTAATGAAATAGCGGGTGACAAAATAGTTG TCTTTTTGATTTTGATCACAAAAAATAAACTGGTAGTGACAGGATATGATGGAGAGATTTGACATCCTGGCAAATCACTGTCATTGATTCAATTATTCTAATTCTGAATAAAAGCTGTAT ACAGTAAAA |
Protein Sequence | >5080 : length: 504 MGNTMMWYFSFLFFLFDNIYPWLRGGRSSAAEIKRAVAGANRLPALSLTCGGRTCLWLKPSPGSDSHVCTGGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADA KVQVLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGT RPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQA SNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLIS PGVSVPVQVPGSEPDMSQYWPRLQ |