| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 695 |
Name | BTK |
Synonym | AGMX1|AT|ATK|BPK|IMD1|PSCTK1|XLA;Bruton agammaglobulinemia tyrosine kinase;BTK;Bruton agammaglobulinemia tyrosine kinase |
Definition | B-cell progenitor kinase|agammaglobulinaemia tyrosine kinase|dominant-negative kinase-deficient Brutons tyrosine kinase|truncated Bruton agammaglobulinemia tyrosine kinase|tyrosine-protein kinase BTK|tyrosine-protein kinase BTK isoform (lacking exon 14) |
Position | Xq21.33-q22 |
Gene Type | protein-coding |
|
TSG scores |
Description |
| TUSON ranking | 3596 |
TUSON P-value | 1 |
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Pathways and Diseases |
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Pathway | fc epsilon receptor i signaling in mast cells;PID BioCarta;100165 |
Pathway | BCR signaling pathway;PID Curated;200005 |
Pathway | Fc epsilon RI signaling pathway;KEGG PATHWAY;hsa04664 |
Pathway | B cell receptor signaling pathway;KEGG PATHWAY;hsa04662 |
Pathway | EPO signaling pathway;PID Curated;200157 |
Pathway | B cell activation;PANTHER;P00010 |
Pathway | phosphoinositides and their downstream targets;PID BioCarta;100059 |
Pathway | Fc-epsilon receptor I signaling in mast cells;PID Curated;200003 |
Pathway | bcr signaling pathway;PID BioCarta;100227 |
Pathway | FAS (CD95) signaling pathway;PID Curated;200067 |
Pathway | Class I PI3K signaling events;PID Curated;200098 |
Pathway | Primary immunodeficiency;KEGG PATHWAY;hsa05340 |
Disease | Lymphoproliferative disorder;FunDO |
Disease | Agammaglobulinemia, type 1, X-linked;OMIM |
Disease | Agammaglobulinemia and isolated hormone deficiency;OMIM |
Disease | Immune system diseases;KEGG DISEASE |
Disease | Agammaglobulinemias;KEGG DISEASE;H00085 |
Disease | Primary immunodeficiency;KEGG DISEASE |
Disease | Immunologic deficiency syndrome;FunDO |
Disease | Common variable immunodeficiency;FunDO |
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External Links |
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Links to Entrez Gene | 695 |
Links to all GeneRIF Items | 695 |
Links to iHOP | 695 |
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Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>695 : length: 1980 atggccgcagtgattctggagagcatctttctgaagcgatcccaacagaaaaagaaaaca tcacctctaaacttcaagaagcgcctgtttctcttgaccgtgcacaaactctcctactat gagtatgactttgaacgtgggagaagaggcagtaagaagggttcaatagatgttgagaag atcacttgtgttgaaacagtggttcctgaaaaaaatcctcctccagaaagacagattccg agaagaggtgaagagtccagtgaaatggagcaaatttcaatcattgaaaggttcccttat cccttccaggttgtatatgatgaagggcctctctacgtcttctccccaactgaagaacta aggaagcggtggattcaccagctcaaaaacgtaatccggtacaacagtgatctggttcag aaatatcacccttgcttctggatcgatgggcagtatctctgctgctctcagacagccaaa aatgctatgggctgccaaattttggagaacaggaatggaagcttaaaacctgggagttct caccggaagacaaaaaagcctcttcccccaacgcctgaggaggaccagatcttgaaaaag ccactaccgcctgagccagcagcagcaccagtctccacaagtgagctgaaaaaggttgtg gccctttatgattacatgccaatgaatgcaaatgatctacagctgcggaagggtgatgaa tattttatcttggaggaaagcaacttaccatggtggagagcacgagataaaaatgggcag gaaggctacattcctagtaactatgtcactgaagcagaagactccatagaaatgtatgag tggtattccaaacacatgactcggagtcaggctgagcaactgctaaagcaagaggggaaa gaaggaggtttcattgtcagagactccagcaaagctggcaaatatacagtgtctgtgttt gctaaatccacaggggaccctcaaggggtgatacgtcattatgttgtgtgttccacacct cagagccagtattacctggctgagaagcaccttttcagcaccatccctgagctcattaac taccatcagcacaactctgcaggactcatatccaggctcaaatatccagtgtctcaacaa aacaagaatgcaccttccactgcaggcctgggatacggatcatgggaaattgatccaaag gacctgaccttcttgaaggagctggggactggacaatttggggtagtgaagtatgggaaa tggagaggccagtacgacgtggccatcaagatgatcaaagaaggctccatgtctgaagat gaattcattgaagaagccaaagtcatgatgaatctttcccatgagaagctggtgcagttg tatggcgtctgcaccaagcagcgccccatcttcatcatcactgagtacatggccaatggc tgcctcctgaactacctgagggagatgcgccaccgcttccagactcagcagctgctagag atgtgcaaggatgtctgtgaagccatggaatacctggagtcaaagcagttccttcaccga gacctggcagctcgaaactgtttggtaaacgatcaaggagttgttaaagtatctgatttc ggcctgtccaggtatgtcctggatgatgaatacacaagctcagtaggctccaaatttcca gtccggtggtccccaccggaagtcctgatgtatagcaagttcagcagcaaatctgacatt tgggcttttggggttttgatgtgggaaatttactccctggggaagatgccatatgagaga tttactaacagtgagactgctgaacacattgcccaaggcctacgtctctacaggcctcat ctggcttcagagaaggtatataccatcatgtacagttgctggcatgagaaagcagatgag cgtcccactttcaaaattcttctgagcaatattctagatgtcatggatgaagaatcctga |
Protein Sequence |
>695 : length: 659 MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEK ITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEEL RKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSS HRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGK EGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELIN YHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGK WRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDF GLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYER FTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES |