| Gene ID | 50943 |
| Symbol | FOXP3 |
| Synonymous | AIID|DIETER|IPEX|JM2|PIDX|XPID |
| Full name | forkhead box P3 |
| Gene description | FOXP3delta7|forkhead box protein P3|immune dysregulation, polyendocrinopathy, enteropathy, X-linked|immunodeficiency, polyendocrinopathy, enteropathy, X-linked|scurfin |
| Cytoband | Xp11.23 |
| Gene type | protein-coding |
| Synonymous | MIM:300292; HGNC:HGNC:6106; Ensembl:ENSG00000049768; HPRD:02242; Vega:OTTHUMG00000024135 |
Pathways and Diseases | Detail |
|---|---|
Pathway | IL2 signaling events mediated by STAT5;PID Curated;200158 |
Pathway | Calcineurin-regulated NFAT-dependent transcription in lymphocytes;PID Curated;200039 |
Disease | Other well-defined immunodeficiency syndromes;KEGG DISEASE;H00107 |
Disease | diabetes, type 1;GAD |
Disease | IMMUNE;GAD |
Disease | Immune system diseases;KEGG DISEASE |
Disease | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked;OMIM |
Disease | Diabetes mellitus, type I, susceptibility to;OMIM |
Disease | Primary immunodeficiency;KEGG DISEASE |
Sequence Information | |
|---|---|
Nucleotide Sequence | >50943 : length: 4136 CAGAGGGCCAATGGGCAGCCATGCACGGATGACGTACAGCGAATTGAGAGCCGGAGAAGCACGCAGCCAATGGGGATGCCCGGGAGTGGGCGGTGTAGGGGGCGGGATGATCGAGGAATC AATGGAGAGGCCGGAATGGGGGTGGTGCGAAATCCATGATGAAGAAAACAGAAGCAGACAGCTAATGCGGAAGTCTGAGCGAGAGAGGTCTGAAGCCAGTCTTGTAGAGGGCTGGAGTGG TTGTTGGACGACTAGAACCCTGGGCTTTGCAGGGTGCTGGGAGCTGGAAGTCTTCACCATGGCCTGTCAGGAGAAGCCCCTGGGGGCTGGTCTACCATGCTGACCAGTGGTTGAATAGAG TGCCTGCTGAGGTCAAGAGATGCAGCCGCCAATTCCTGGACAACCTAAAAGCCTCACAAGCTTCAAGTCTCCAAGGACTCTCCAAATCCCAGGATCTCCCTGCCATCACATCCTAGAATT TAAAACCTGAGAACATCAAGTTCAGGAAAGCTTGGGGATTTCAAAGCCCAGCACCAAAGAAAGCGGGACCCACACTCGCCAGCTCTGTGATCTTGGGCAAGTTGCTTGACTACTTATACC TCCGTTTCCCTCATCTGTATAACAGGAATACAATAATGATGAGATGGAGCTCAAGGGGCCATGGTGAGGATTGAACATGATCACTTGTGAGACATGTTCAGCACTGTATCTGACCCATGG AAAATTCAAGATAAACATCAGCTACTGAGATGATGGCGGATATTTGGAATCCTAAATCCTTGGAAACTGGGGCTTTTTGAAGTAAAAGACCCCAAAGGCTGAGGGCCTCAGAAGCATCAG GCCATGATGTTCCTGAAACAAGAGGGTCAGGGTCCCAATGGGCCTCTGGGGTTCATCGTGAGGATGGATGCATTAATATTGGGGACCTGCTAGGGACCTTCCCAGTGGGACAGTGGCTGG GTCAGGGCACTCAAGCCCTAAAACGTGATGAGGCGAGACTTTTCTCTCTTTCCTCATTCAGTAACTGTCAGTAGATTCTGGGAGCCAGGGATTCTCCGACTCTTCAAGTCCATGAATTTT AGGGGATGACAGTGGGCTCTCCGCTTTCTCCTCCATGAAGTAACTTACATGCCCCTCACCCTCTGTGGGAGGGGTGTTGCAGGGGGTGCAGAACTCCCCTCGCCGGGTAGTTCAAGCAAT GGGGACCATATCAATTCCATCTATAGGGAAACTGAGGCCTGGAGTAGGGCGAGGCCTCTGGGAACCCAGCCCTATTCTGTCTCTTTCCCTGGCATTTCCCATCCACACATAGAGCTTCAG ATTCTCTTTCTTTCCCCAGAGACCCTCAAATATCCTCTCACTCACAGAATGGTGTCTCTGCCTGCCTCGGGTTGGCCCTGTGATTTATTTTAGTTCTTTTCCCTTGTTTTTTTTTTTTCA AACTCTATACACTTTTGTTTTAAAAACTGTGGTTTCTCATGAGCCCTATTATCTCATTGATACCTCTCACCTCTGTGGTGAGGGGAAGAAATCATATTTTCAGATGACTCGTAAAGGGCA AAGAAAAAAACCCAAAATTTCAAAATTTCCGTTTAAGTCTCATAATCAAGAAAAGGAGAAACACAGAGAGAGAGAAAAAAAAAACTATGAGAACCCCTCCCCACCCCGTGATTATCAGCG CACACACTCATCGAAAAAAATTTGGATTATTAGAAGAGAGAGGTCTGCGGCTTCCACACCGTACAGCGTGGTTTTTCTTCTCGGTATAAAAGCAAAGTTGTTTTTGATACGTGACAGTTT CCCACAAGCCAGGCTGATCCTTTTCTGTCAGTCCACTTCACCAAGCCTGCCCTTGGACAAGGACCCGATGCCCAACCCCAGGCCTGGCAAGCCCTCGGCCCCTTCCTTGGCCCTTGGCCC ATCCCCAGGAGCCTCGCCCAGCTGGAGGGCTGCACCCAAAGCCTCAGACCTGCTGGGGGCCCGGGGCCCAGGGGGAACCTTCCAGGGCCGAGATCTTCGAGGCGGGGCCCATGCCTCCTC TTCTTCCTTGAACCCCATGCCACCATCGCAGCTGCAGCTCTCAACGGTGGATGCCCACGCCCGGACCCCTGTGCTGCAGGTGCACCCCCTGGAGAGCCCAGCCATGATCAGCCTCACACC ACCCACCACCGCCACTGGGGTCTTCTCCCTCAAGGCCCGGCCTGGCCTCCCACCTGGGATCAACGTGGCCAGCCTGGAATGGGTGTCCAGGGAGCCGGCACTGCTCTGCACCTTCCCAAA TCCCAGTGCACCCAGGAAGGACAGCACCCTTTCGGCTGTGCCCCAGAGCTCCTACCCACTGCTGGCAAATGGTGTCTGCAAGTGGCCCGGATGTGAGAAGGTCTTCGAAGAGCCAGAGGA CTTCCTCAAGCACTGCCAGGCGGACCATCTTCTGGATGAGAAGGGCAGGGCACAATGTCTCCTCCAGAGAGAGATGGTACAGTCTCTGGAGCAGCAGCTGGTGCTGGAGAAGGAGAAGCT GAGTGCCATGCAGGCCCACCTGGCTGGGAAAATGGCACTGACCAAGGCTTCATCTGTGGCATCATCCGACAAGGGCTCCTGCTGCATCGTAGCTGCTGGCAGCCAAGGCCCTGTCGTCCC AGCCTGGTCTGGCCCCCGGGAGGCCCCTGACAGCCTGTTTGCTGTCCGGAGGCACCTGTGGGGTAGCCATGGAAACAGCACATTCCCAGAGTTCCTCCACAACATGGACTACTTCAAGTT CCACAACATGCGACCCCCTTTCACCTACGCCACGCTCATCCGCTGGGCCATCCTGGAGGCTCCAGAGAAGCAGCGGACACTCAATGAGATCTACCACTGGTTCACACGCATGTTTGCCTT CTTCAGAAACCATCCTGCCACCTGGAAGGTGAGCTCCTCTGAGGTGGCGGTGACTGGGATGGCCTCAAGTGCCATCGCAGCTCAAAGTGGGCAGGCCTGGGTCTGGGCTCATAGGCACAT TGGGGAGGAACGGGATGTGGGTTGTTGGTGGTGGCTGCTGGCCTCAGAGGTTGACGCCCACCTGCTCCCTGTCCCCGGCCTTCCACAGAACGCCATCCGCCACAACCTGAGTCTGCACAA GTGCTTTGTGCGGGTGGAGAGCGAGAAGGGGGCTGTGTGGACCGTGGATGAGCTGGAGTTCCGCAAGAAACGGAGCCAGAGGCCCAGCAGGTGTTCCAACCCTACACCTGGCCCCTGACC TCAAGATCAAGGAAAGGAGGATGGACGAACAGGGGCCAAACTGGTGGGAGGCAGAGGTGGTGGGGGCAGGGATGATAGGCCCTGGATGTGCCCACAGGGACCAAGAAGTGAGGTTTCCAC TGTCTTGCCTGCCAGGGCCCCTGTTCCCCCGCTGGCAGCCACCCCCTCCCCCATCATATCCTTTGCCCCAAGGCTGCTCAGAGGGGCCCCGGTCCTGGCCCCAGCCCCCACCTCCGCCCC AGACACACCCCCCAGTCGAGCCCTGCAGCCAAACAGAGCCTTCACAACCAGCCACACAGAGCCTGCCTCAGCTGCTCGCACAGATTACTTCAGGGCTGGAAAAGTCACACAGACACACAA AATGTCACAATCCTGTCCCTCACTCAACACAAACCCCAAAACACAGAGAGCCTGCCTCAGTACACTCAAACAACCTCAAAGCTGCATCATCACACAATCACACACAAGCACAGCCCTGAC AACCCACACACCCCAAGGCACGCACCCACAGCCAGCCTCAGGGCCCACAGGGGCACTGTCAACACAGGGGTGTGCCCAGAGGCCTACACAGAAGCAGCGTCAGTACCCTCAGGATCTGAG GTCCCAACACGTGCTCGCTCACACACACGGCCTGTTAGAATTCACCTGTGTATCTCACGCATATGCACACGCACAGCCCCCCAGTGGGTCTCTTGAGTCCCGTGCAGACACACACAGCCA CACACACTGCCTTGCCAAAAATACCCCGTGTCTCCCCTGCCACTCACCTCACTCCCATTCCCTGAGCCCTGATCCATGCCTCAGCTTAGACTGCAGAGGAACTACTCATTTATTTGGGAT CCAAGGCCCCCAACCCACAGTACCGTCCCCAATAAACTGCAGCCGAGCTCCCCACA |
Protein Sequence | >50943 : length: 564 MTRKGQRKKPKISKFPFKSHNQEKEKHREREKKNYENPSPPRDYQRTHSSKKIWIIRRERSAASTPYSVVFLLGIKAKLFLIRDSFPQARLILFCQSTSPSLPLDKDPMPNPRPGKPSAP SLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPAL LCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGS QGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNHPATWKVSSSEVAVTGMASSAIAAQSGQAWV WAHRHIGEERDVGCWWWLLASEVDAHLLPVPGLPQNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP |