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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
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 |
Source | Count: 2; Pubmed_search,Generif |
Literature support | Count: 2 PubMed records as below. |
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Evidence Status |
Description |
reviewed | tumor suppressor PAX6 functions as androgen receptor co-repressor to inhibit prostate cancer growth. |
reviewed | "the tumor suppressor role of PAX6, reported in previous studies on gliomas, is not due to mutation in its coding and regulating regions, suggesting the involvement of epigenetic mechanisms in the silencing of PAX6 in these tumors". |
reviewed | The tumor suppressor role of PAX6 in human gliomas is not due to mutation in its coding and regulating regions. |
| More detail of all 2 literatures about PAX6 | |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 5080 |
Links to all GeneRIF Items | 5080 |
Links to iHOP | 5080 |
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Sequence Information |
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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 |