| Tag | Content |
|---|---|
| UniProt Accession | BTK_HUMAN; Q06187; |
| Entrez ID | 695 |
| GenBank Protein ID | NM_000061.2; NM_001287344.1; NM_001287345.1; |
| GenBank Nucleotide ID | NP_000052.1; NP_001274273.1; NP_001274274.1; |
| Protein Name | Tyrosine-protein kinase BTK (EC 2.7.10.2) (Agammaglobulinemia tyrosine kinase) (ATK) (B-cell progenitor kinase) (BPK) (Bruton tyrosine kinase) |
| Gene Name | BTK; AGMX1; ATK; BPK |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell(view all)Functional Description Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK. BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways. Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway. The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense. Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells. Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation. BTK plays also a critical role in transcription regulation. Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes. BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B. Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR. GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression. ARID3A and NFAT are other transcriptional target of BTK. BTK is required for the formation of functional ARID3A DNA-binding complexes. There is however no evidence that BTK itself binds directly to DNA. BTK has a dual role in the regulation of apoptosis. |
| Sequence (Fasta) | MAAVILESIF LKRSQQKKKT SPLNFKKRLF LLTVHKLSYY EYDFERGRRG SKKGSIDVEK 60 ITCVETVVPE KNPPPERQIP RRGEESSEME QISIIERFPY PFQVVYDEGP LYVFSPTEEL 120 RKRWIHQLKN VIRYNSDLVQ KYHPCFWIDG QYLCCSQTAK NAMGCQILEN RNGSLKPGSS 180 HRKTKKPLPP TPEEDQILKK PLPPEPAAAP VSTSELKKVV ALYDYMPMNA NDLQLRKGDE 240 YFILEESNLP WWRARDKNGQ EGYIPSNYVT EAEDSIEMYE WYSKHMTRSQ AEQLLKQEGK 300 EGGFIVRDSS KAGKYTVSVF AKSTGDPQGV IRHYVVCSTP QSQYYLAEKH LFSTIPELIN 360 YHQHNSAGLI SRLKYPVSQQ NKNAPSTAGL GYGSWEIDPK DLTFLKELGT GQFGVVKYGK 420 WRGQYDVAIK MIKEGSMSED EFIEEAKVMM NLSHEKLVQL YGVCTKQRPI FIITEYMANG 480 CLLNYLREMR HRFQTQQLLE MCKDVCEAME YLESKQFLHR DLAARNCLVN DQGVVKVSDF 540 GLSRYVLDDE YTSSVGSKFP VRWSPPEVLM YSKFSSKSDI WAFGVLMWEI YSLGKMPYER 600 FTNSETAEHI AQGLRLYRPH LASEKVYTIM YSCWHEKADE RPTFKILLSN ILDVMDEES 660 Fasta Sequence>Q06187|BTK; AGMX1; ATK; BPK|Homo sapiens (Human) MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | CLL, mantle cell lymphoma, WM |
| CTD (Curated) (count: 3) | MESH:D000361
; Agammaglobulinemia MESH:C537409 ; Bruton type agammaglobulinemia MESH:C537149 ; Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked |
| HGMD (count: 709) (view all) | CP086004; Agammaglobulinaemia; Complex rearrangements
CP995262; Agammaglobulinaemia; Complex rearrangements CD056795; Agammaglobulinaemia; Small deletions CD941623; Agammaglobulinaemia; Small deletions CD012237; Agammaglobulinaemia; Small deletions CD982523; Agammaglobulinaemia; Small deletions CD942106; Agammaglobulinaemia; Small deletions
CD983711; Agammaglobulinaemia; Small deletions CD092969; Agammaglobulinaemia; Small deletions CD045694; Agammaglobulinaemia; Small deletions CD057234; Agammaglobulinaemia; Small deletions CD092970; Agammaglobulinaemia; Small deletions CD031028; Agammaglobulinaemia; Small deletions CD092961; Agammaglobulinaemia; Small deletions CD056796; Agammaglobulinaemia; Small deletions CD984171; Agammaglobulinaemia; Small deletions CD994702; Agammaglobulinaemia; Small deletions CD983708; Agammaglobulinaemia; Small deletions CD973360; Agammaglobulinaemia; Small deletions CD031029; Agammaglobulinaemia; Small deletions CD994700; Agammaglobulinaemia; Small deletions CD071298; Agammaglobulinaemia; Small deletions CD982517; Agammaglobulinaemia; Small deletions CD002496; Agammaglobulinaemia; Small deletions CD994731; Agammaglobulinaemia; Small deletions CD961867; Agammaglobulinaemia; Small deletions CD994730; Agammaglobulinaemia; Small deletions CD012844; Agammaglobulinaemia; Small deletions CD045695; Agammaglobulinaemia; Small deletions CD994732; Agammaglobulinaemia; Small deletions CD951634; Agammaglobulinaemia; Small deletions CD031030; Agammaglobulinaemia; Small deletions CD056797; Agammaglobulinaemia; Small deletions CD092966; Agammaglobulinaemia; Small deletions CD056798; Agammaglobulinaemia; Small deletions CD014874; Agammaglobulinaemia; Small deletions CD014457; Agammaglobulinaemia; Small deletions CD066345; Agammaglobulinaemia; Small deletions CD982516; Agammaglobulinaemia; Small deletions CD984692; Agammaglobulinaemia; Small deletions CD961866; Agammaglobulinaemia; Small deletions CD951635; Agammaglobulinaemia; Small deletions CD015205; Agammaglobulinaemia; Small deletions CD004686; Agammaglobulinaemia; Small deletions CD014870; Agammaglobulinaemia; Small deletions CD951638; Agammaglobulinaemia; Small deletions CD066346; Agammaglobulinaemia; Small deletions CD024037; Agammaglobulinaemia; Small deletions CD941621; Agammaglobulinaemia; Small deletions CD056799; Agammaglobulinaemia; Small deletions CD952232; Agammaglobulinaemia; Small deletions CD952237; Agammaglobulinaemia; Small deletions CD972100; Agammaglobulinaemia; Small deletions CD982514; Agammaglobulinaemia; Small deletions CD951633; Agammaglobulinaemia; Small deletions CD951632; Agammaglobulinaemia; Small deletions CD092975; Agammaglobulinaemia; Small deletions CD984172; Agammaglobulinaemia; Small deletions CD972099; Agammaglobulinaemia; Small deletions CD941624; Agammaglobulinaemia; Small deletions CD982515; Agammaglobulinaemia; Small deletions CD056800; Agammaglobulinaemia; Small deletions CD092974; Agammaglobulinaemia; Small deletions CD067149; Agammaglobulinaemia; Small deletions CD951639; Agammaglobulinaemia; Small deletions CD984238; Agammaglobulinaemia; Small deletions CD014868; Agammaglobulinaemia; Small deletions CD984170; Agammaglobulinaemia; Small deletions CD982522; Agammaglobulinaemia; Small deletions CD941625; Agammaglobulinaemia; Small deletions CD067150; Agammaglobulinaemia; Small deletions CD083284; Agammaglobulinaemia; Small deletions CD011125; Agammaglobulinaemia; Small deletions HD080009; Agammaglobulinaemia; Small deletions CD012843; Agammaglobulinaemia; Small deletions CD984185; Agammaglobulinaemia; Small deletions CD056801; Agammaglobulinaemia; Small deletions CD015206; Agammaglobulinaemia; Small deletions CD092965; Agammaglobulinaemia; Small deletions CD014867; Agammaglobulinaemia; Small deletions CD984187; Agammaglobulinaemia; Small deletions CD004506; Agammaglobulinaemia; Small deletions CD001473; Agammaglobulinaemia; Small deletions CD024316; Agammaglobulinaemia; Small deletions CD951630; Agammaglobulinaemia; Small deletions CD066347; Agammaglobulinaemia ?; Small deletions CD014869; Agammaglobulinaemia; Small deletions CD056802; Agammaglobulinaemia; Small deletions CD984186; Agammaglobulinaemia; Small deletions CD982518; Agammaglobulinaemia; Small deletions CD014877; Agammaglobulinaemia; Small deletions CD014871; Agammaglobulinaemia; Small deletions CD004685; Agammaglobulinaemia; Small deletions CD982521; Agammaglobulinaemia; Small deletions CD961865; Agammaglobulinaemia; Small deletions CD983712; Agammaglobulinaemia; Small deletions CD092968; Agammaglobulinaemia; Small deletions CD982524; Agammaglobulinaemia; Small deletions CD952234; Agammaglobulinaemia; Small deletions CD015204; Agammaglobulinaemia; Small deletions CD972097; Agammaglobulinaemia; Small deletions CD982512; Agammaglobulinaemia; Small deletions CD087030; Agammaglobulinaemia; Small deletions CD024318; Agammaglobulinaemia; Small deletions CD014872; Agammaglobulinaemia; Small deletions CD014875; Agammaglobulinaemia; Small deletions CD972098; Agammaglobulinaemia; Small deletions CD002495; Agammaglobulinaemia; Small deletions CD951637; Agammaglobulinaemia; Small deletions CD040880; Agammaglobulinaemia; Small deletions CD014866; Agammaglobulinaemia; Small deletions CD092967; Agammaglobulinaemia; Small deletions CD056803; Agammaglobulinaemia; Small deletions CD983710; Agammaglobulinaemia; Small deletions CD972102; Agammaglobulinaemia; Small deletions CD024317; Agammaglobulinaemia; Small deletions CD982513; Agammaglobulinaemia; Small deletions CD951631; Agammaglobulinaemia; Small deletions CD982519; Agammaglobulinaemia; Small deletions CD013462; Agammaglobulinaemia; Small deletions CD004684; Agammaglobulinaemia; Small deletions CD057522; Agammaglobulinaemia; Small deletions CD014873; Agammaglobulinaemia; Small deletions CD952236; Agammaglobulinaemia; Small deletions CD092962; Agammaglobulinaemia; Small deletions CD015203; Agammaglobulinaemia; Small deletions CD982511; Agammaglobulinaemia; Small deletions CD941622; Agammaglobulinaemia; Small deletions CD993400; Agammaglobulinaemia; Small deletions CD031031; Agammaglobulinaemia; Small deletions CD045696; Agammaglobulinaemia; Small deletions CD973358; Agammaglobulinaemia; Small deletions CD952235; Agammaglobulinaemia; Small deletions CD983709; Agammaglobulinaemia; Small deletions CD972101; Agammaglobulinaemia; Small deletions CD014876; Agammaglobulinaemia; Small deletions CD951636; Agammaglobulinaemia; Small deletions CD056804; Agammaglobulinaemia; Small deletions CD994729; Agammaglobulinaemia; Small deletions CD056805; Agammaglobulinaemia; Small deletions CD045697; Agammaglobulinaemia; Small deletions CD982520; Agammaglobulinaemia; Small deletions CD961864; Agammaglobulinaemia; Small deletions CD045698; Agammaglobulinaemia; Small deletions CD973359; Agammaglobulinaemia; Small deletions CD994701; Agammaglobulinaemia; Small deletions CG080997; BTK deficiency; Gross deletions CG015444; Agammaglobulinaemia; Gross deletions CG995256; Agammaglobulinaemia; Gross deletions CG984250; Agammaglobulinaemia; Gross deletions CG015445; Agammaglobulinaemia; Gross deletions CG015446; Agammaglobulinaemia; Gross deletions CG952281; Agammaglobulinaemia; Gross deletions CG984251; Agammaglobulinaemia; Gross deletions CG015447; Agammaglobulinaemia; Gross deletions CG092964; Agammaglobulinaemia; Gross deletions CG015448; Agammaglobulinaemia; Gross deletions CG942158; Agammaglobulinaemia; Gross deletions CG973418; Agammaglobulinaemia; Gross deletions CG080998; BTK deficiency; Gross deletions CG984253; Agammaglobulinaemia; Gross deletions CG015449; Agammaglobulinaemia; Gross deletions CG015450; Agammaglobulinaemia; Gross deletions CG015451; Agammaglobulinaemia; Gross deletions CG984252; Agammaglobulinaemia; Gross deletions CG995257; Agammaglobulinaemia; Gross deletions CG015452; Agammaglobulinaemia; Gross deletions CG952430; Agammaglobulinaemia; Gross deletions CG984254; Agammaglobulinaemia; Gross deletions CG015453; Agammaglobulinaemia; Gross deletions CG004947; Agammaglobulinaemia; Gross deletions CG995258; Agammaglobulinaemia; Gross deletions CG962809; Agammaglobulinaemia; Gross deletions CG015454; Agammaglobulinaemia; Gross deletions CG962810; Agammaglobulinaemia; Gross deletions CG057534; Agammaglobulinaemia; Gross deletions CG035164; Agammaglobulinaemia; Gross deletions CG984255; Agammaglobulinaemia; Gross deletions CG984256; Agammaglobulinaemia; Gross deletions CG952282; Agammaglobulinaemia; Gross deletions CG984257; Agammaglobulinaemia; Gross deletions CG995259; Agammaglobulinaemia; Gross deletions CG015455; Agammaglobulinaemia; Gross deletions CG952431; Agammaglobulinaemia; Gross deletions CG015456; Agammaglobulinaemia; Gross deletions CG984261; Agammaglobulinaemia; Gross deletions CG092963; Agammaglobulinaemia; Gross deletions CG962811; Agammaglobulinaemia; Gross deletions CG984258; Agammaglobulinaemia; Gross deletions CG984259; Agammaglobulinaemia; Gross deletions CG984260; Agammaglobulinaemia; Gross deletions CG067594; Agammaglobulinaemia; Gross deletions CG056909; Agammaglobulinaemia; Gross deletions CG066457; Agammaglobulinaemia; Gross deletions CG973419; Agammaglobulinaemia; Gross deletions CG952283; Agammaglobulinaemia; Gross deletions CG082336; Agammaglobulinaemia; Gross deletions CG962812; Agammaglobulinaemia; Gross deletions CG082337; Agammaglobulinaemia; Gross deletions CG082338; Agammaglobulinaemia; Gross deletions CN005214; Agammaglobulinaemia; Gross insertions CN015711; Agammaglobulinaemia; Gross insertions CN052765; Agammaglobulinaemia; Gross insertions CN052766; Agammaglobulinaemia; Gross insertions CN056927; Agammaglobulinaemia; Gross insertions CN071503; Agammaglobulinaemia; Gross insertions CN942255; Agammaglobulinaemia; Gross insertions CN942254; Agammaglobulinaemia; Gross insertions CN984487; Agammaglobulinaemia; Gross insertions CN984488; Agammaglobulinaemia; Gross insertions CN984489; Agammaglobulinaemia; Gross insertions CN995260; Agammaglobulinaemia; Gross insertions CN995261; Agammaglobulinaemia; Gross insertions CX952429; Agammaglobulinaemia; Small indels CX056898; Agammaglobulinaemia; Small indels CX983263; Agammaglobulinaemia; Small indels CP025130; Agammaglobulinaemia; Small indels CX004713; Agammaglobulinaemia; Small indels CX972732; Agammaglobulinaemia; Small indels CX994708; Agammaglobulinaemia; Small indels CP015764; Agammaglobulinaemia; Small indels CX012302; Agammaglobulinaemia; Small indels CX983265; Agammaglobulinaemia; Small indels CX012301; Agammaglobulinaemia; Small indels CX983266; Agammaglobulinaemia; Small indels CX983264; Agammaglobulinaemia; Small indels CX972731; Agammaglobulinaemia; Small indels CX066449; Agammaglobulinaemia ?; Small indels CX984150; Agammaglobulinaemia; Small indels CX973357; Agammaglobulinaemia; Small indels CP015763; Agammaglobulinaemia; Small indels CI951911; Agammaglobulinaemia; Small insertions CI092972; Agammaglobulinaemia; Small insertions CI972566; Agammaglobulinaemia; Small insertions CI045700; Agammaglobulinaemia; Small insertions CI983718; Agammaglobulinaemia; Small insertions CI015215; Agammaglobulinaemia; Small insertions CI951914; Agammaglobulinaemia; Small insertions CI983721; Agammaglobulinaemia; Small insertions CI087330; Paralytic poliomyelitis, vaccine-associated; Small insertions CI023552; Agammaglobulinaemia; Small insertions CI983719; Agammaglobulinaemia; Small insertions CI023549; Agammaglobulinaemia; Small insertions CI023551; Agammaglobulinaemia; Small insertions CI004688; Agammaglobulinaemia; Small insertions CI015213; Agammaglobulinaemia; Small insertions CI023550; Agammaglobulinaemia; Small insertions CI941845; Agammaglobulinaemia; Small insertions CI056870; Agammaglobulinaemia; Small insertions CI962777; Agammaglobulinaemia; Small insertions CI951916; Agammaglobulinaemia; Small insertions CI004687; Agammaglobulinaemia; Small insertions CI014879; Agammaglobulinaemia; Small insertions CI962231; Agammaglobulinaemia; Small insertions CI031086; Agammaglobulinaemia; Small insertions CI973253; Agammaglobulinaemia; Small insertions CI056871; Agammaglobulinaemia; Small insertions CI972565; Agammaglobulinaemia; Small insertions CI941844; Agammaglobulinaemia; Small insertions CI983720; Agammaglobulinaemia; Small insertions CI014878; Agammaglobulinaemia; Small insertions CI983724; Agammaglobulinaemia; Small insertions CI056872; Agammaglobulinaemia; Small insertions CI983722; Agammaglobulinaemia; Small insertions CI056873; Agammaglobulinaemia; Small insertions CI056874; Agammaglobulinaemia; Small insertions CI983723; Agammaglobulinaemia; Small insertions CI951912; Agammaglobulinaemia; Small insertions CI015214; Agammaglobulinaemia; Small insertions CI012285; Agammaglobulinaemia; Small insertions CI023553; Agammaglobulinaemia; Small insertions CI056875; Agammaglobulinaemia; Small insertions CI035069; Agammaglobulinaemia; Small insertions CI092973; Agammaglobulinaemia; Small insertions CI994733; Agammaglobulinaemia; Small insertions CI951915; Agammaglobulinaemia; Small insertions CI993418; Agammaglobulinaemia; Small insertions CI951913; Agammaglobulinaemia; Small insertions CI994705; Agammaglobulinaemia; Small insertions CM960195; Agammaglobulinaemia; Missense/nonsense CM001063; Agammaglobulinaemia; Missense/nonsense CM940181; Agammaglobulinaemia; Missense/nonsense CM092934; Agammaglobulinaemia; Missense/nonsense CM970192; Agammaglobulinaemia; Missense/nonsense CM960196; Agammaglobulinaemia; Missense/nonsense CM940182; Agammaglobulinaemia; Missense/nonsense CM952230; Agammaglobulinaemia; Missense/nonsense CM950158; Agammaglobulinaemia; Missense/nonsense CM040383; Agammaglobulinaemia; Missense/nonsense CM962535; Agammaglobulinaemia; Missense/nonsense CM970193; Agammaglobulinaemia; Missense/nonsense CM980261; Agammaglobulinaemia; Missense/nonsense CM950159; Agammaglobulinaemia; Missense/nonsense CM984163; Agammaglobulinaemia; Missense/nonsense CM940183; Agammaglobulinaemia; Missense/nonsense CM960197; Agammaglobulinaemia; Missense/nonsense CM021959; Agammaglobulinaemia; Missense/nonsense CM040689; Agammaglobulinaemia; Missense/nonsense CM980262; Agammaglobulinaemia; Missense/nonsense CM056539; Agammaglobulinaemia; Missense/nonsense CM001064; Agammaglobulinaemia; Missense/nonsense CM023889; Agammaglobulinaemia; Missense/nonsense CM024283; Agammaglobulinaemia; Missense/nonsense CM940184; Agammaglobulinaemia; Missense/nonsense CM092935; Agammaglobulinaemia; Missense/nonsense CM993324; Agammaglobulinaemia; Missense/nonsense CM012739; Agammaglobulinaemia; Missense/nonsense CM040384; Agammaglobulinaemia; Missense/nonsense CM970195; Agammaglobulinaemia; Missense/nonsense CM970194; Agammaglobulinaemia; Missense/nonsense CM056536; Agammaglobulinaemia; Missense/nonsense CM962536; Agammaglobulinaemia; Missense/nonsense CM016080; Agammaglobulinaemia; Missense/nonsense CM983654; Agammaglobulinaemia; Missense/nonsense CM952087; Agammaglobulinaemia; Missense/nonsense CM984164; Agammaglobulinaemia; Missense/nonsense CM940185; Agammaglobulinaemia; Missense/nonsense CM952088; Agammaglobulinaemia; Missense/nonsense CM014839; Agammaglobulinaemia; Missense/nonsense CM056537; Agammaglobulinaemia; Missense/nonsense CM081546; Agammaglobulinaemia; Missense/nonsense CM014840; Agammaglobulinaemia; Missense/nonsense CM023890; Agammaglobulinaemia; Missense/nonsense CM980263; Agammaglobulinaemia; Missense/nonsense CM056546; Agammaglobulinaemia; Missense/nonsense CM023891; Agammaglobulinaemia; Missense/nonsense CM980264; Agammaglobulinaemia; Missense/nonsense CM980265; Agammaglobulinaemia; Missense/nonsense CM980266; Agammaglobulinaemia; Missense/nonsense CM960198; Agammaglobulinaemia; Missense/nonsense CM040385; Agammaglobulinaemia; Missense/nonsense CM983655; Agammaglobulinaemia; Missense/nonsense CM960199; Agammaglobulinaemia; Missense/nonsense CM092936; Agammaglobulinaemia; Missense/nonsense CM984096; Agammaglobulinaemia; Missense/nonsense CM960200; Agammaglobulinaemia; Missense/nonsense CM960201; Agammaglobulinaemia; Missense/nonsense CM970196; Agammaglobulinaemia; Missense/nonsense CM066743; Agammaglobulinaemia; Missense/nonsense CM023892; Agammaglobulinaemia; Missense/nonsense CM034386; Agammaglobulinaemia; Missense/nonsense CM970197; Agammaglobulinaemia; Missense/nonsense CM973012; Agammaglobulinaemia; Missense/nonsense CM970198; Agammaglobulinaemia; Missense/nonsense CM040690; Agammaglobulinaemia; Missense/nonsense CM040691; Agammaglobulinaemia; Missense/nonsense CM980267; Agammaglobulinaemia; Missense/nonsense CM030798; Agammaglobulinaemia; Missense/nonsense CM960202; Agammaglobulinaemia; Missense/nonsense CM984165; Agammaglobulinaemia; Missense/nonsense CM050184; Hyper-IgM syndrome; Missense/nonsense CM984166; Agammaglobulinaemia; Missense/nonsense CM952181; Agammaglobulinaemia; Missense/nonsense CM984167; Agammaglobulinaemia ?; Missense/nonsense CM993925; Agammaglobulinaemia; Missense/nonsense CM021960; Agammaglobulinaemia; Missense/nonsense CM940186; Agammaglobulinaemia; Missense/nonsense CM980268; Agammaglobulinaemia; Missense/nonsense CM003415; Agammaglobulinaemia; Missense/nonsense CM015162; Agammaglobulinaemia; Missense/nonsense CM940187; Agammaglobulinaemia; Missense/nonsense CM983854; Agammaglobulinaemia; Missense/nonsense CM940188; Agammaglobulinaemia; Missense/nonsense CM993325; Agammaglobulinaemia; Missense/nonsense CM950160; Agammaglobulinaemia; Missense/nonsense CM056547; Agammaglobulinaemia; Missense/nonsense CM960203; Agammaglobulinaemia; Missense/nonsense CM950161; Agammaglobulinaemia; Missense/nonsense CM980269; Agammaglobulinaemia; Missense/nonsense CM940189; Agammaglobulinaemia; Missense/nonsense CM950162; Agammaglobulinaemia; Missense/nonsense CM092937; Agammaglobulinaemia; Missense/nonsense CM960204; Agammaglobulinaemia; Missense/nonsense CM030799; Agammaglobulinaemia; Missense/nonsense CM003416; Agammaglobulinaemia; Missense/nonsense CM950163; Agammaglobulinaemia; Missense/nonsense CM030800; Agammaglobulinaemia; Missense/nonsense CM980270; Agammaglobulinaemia; Missense/nonsense CM015001; Agammaglobulinaemia; Missense/nonsense CM940190; Agammaglobulinaemia; Missense/nonsense CM983656; Agammaglobulinaemia; Missense/nonsense CM980271; Agammaglobulinaemia; Missense/nonsense CM087029; Agammaglobulinaemia ?; Missense/nonsense CM092938; Agammaglobulinaemia; Missense/nonsense CM030801; Agammaglobulinaemia; Missense/nonsense CM993926; Agammaglobulinaemia; Missense/nonsense CM973013; Agammaglobulinaemia; Missense/nonsense CM087298; Bruton disease ?; Missense/nonsense CM970199; Agammaglobulinaemia; Missense/nonsense CM940191; Agammaglobulinaemia; Missense/nonsense CM057430; Primary immunodeficiency disease; Missense/nonsense CM015163; Agammaglobulinaemia; Missense/nonsense CM942030; Agammaglobulinaemia; Missense/nonsense CM012740; Agammaglobulinaemia; Missense/nonsense CM056540; Agammaglobulinaemia; Missense/nonsense CM015164; Agammaglobulinaemia; Missense/nonsense CM065991; Agammaglobulinaemia; Missense/nonsense CM980272; Agammaglobulinaemia; Missense/nonsense CM092939; Agammaglobulinaemia; Missense/nonsense CM952089; Agammaglobulinaemia; Missense/nonsense CM056538; Agammaglobulinaemia; Missense/nonsense CM940192; Agammaglobulinaemia; Missense/nonsense CM003417; Agammaglobulinaemia; Missense/nonsense CM004813; Agammaglobulinaemia; Missense/nonsense CM970200; Agammaglobulinaemia; Missense/nonsense CM092940; Agammaglobulinaemia; Missense/nonsense CM010787; Agammaglobulinaemia; Missense/nonsense CM056544; Agammaglobulinaemia; Missense/nonsense CM970201; Agammaglobulinaemia; Missense/nonsense CM092941; Agammaglobulinaemia; Missense/nonsense CM056535; Agammaglobulinaemia; Missense/nonsense CM973014; Agammaglobulinaemia; Missense/nonsense CM950164; Agammaglobulinaemia; Missense/nonsense CM030802; Agammaglobulinaemia; Missense/nonsense CM962537; Agammaglobulinaemia; Missense/nonsense CM012068; Agammaglobulinaemia; Missense/nonsense CM940193; Agammaglobulinaemia; Missense/nonsense CM962538; Agammaglobulinaemia; Missense/nonsense CM056533; Agammaglobulinaemia; Missense/nonsense CM092942; Agammaglobulinaemia; Missense/nonsense CM015165; Agammaglobulinaemia; Missense/nonsense CM056548; Agammaglobulinaemia; Missense/nonsense CM056541; Agammaglobulinaemia; Missense/nonsense CM940194; Agammaglobulinaemia; Missense/nonsense CM962539; Agammaglobulinaemia; Missense/nonsense CM952090; Agammaglobulinaemia ?; Missense/nonsense CM070659; Agammaglobulinaemia; Missense/nonsense CM056549; Agammaglobulinaemia; Missense/nonsense CM983855; Agammaglobulinaemia; Missense/nonsense CM940195; Agammaglobulinaemia; Missense/nonsense CM950165; Agammaglobulinaemia; Missense/nonsense CM980273; Agammaglobulinaemia; Missense/nonsense CM930075; Agammaglobulinaemia; Missense/nonsense CM960205; Agammaglobulinaemia; Missense/nonsense CM980274; Agammaglobulinaemia; Missense/nonsense CM066741; Agammaglobulinaemia; Missense/nonsense CM015166; Agammaglobulinaemia; Missense/nonsense CM015167; Agammaglobulinaemia; Missense/nonsense CM092943; Agammaglobulinaemia; Missense/nonsense CM960206; Agammaglobulinaemia; Missense/nonsense CM980275; Agammaglobulinaemia; Missense/nonsense CM973015; Agammaglobulinaemia; Missense/nonsense CM973016; Agammaglobulinaemia; Missense/nonsense CM014841; Agammaglobulinaemia; Missense/nonsense CM012069; Agammaglobulinaemia; Missense/nonsense CM950166; Agammaglobulinaemia; Missense/nonsense CM950167; Agammaglobulinaemia; Missense/nonsense CM024284; Agammaglobulinaemia; Missense/nonsense CM015168; Agammaglobulinaemia; Missense/nonsense CM092944; Agammaglobulinaemia; Missense/nonsense CM092945; Agammaglobulinaemia; Missense/nonsense CM066744; Agammaglobulinaemia; Missense/nonsense CM960207; Agammaglobulinaemia; Missense/nonsense CM040386; Agammaglobulinaemia; Missense/nonsense CM014842; Agammaglobulinaemia; Missense/nonsense CM021961; Agammaglobulinaemia; Missense/nonsense CM952091; Agammaglobulinaemia; Missense/nonsense CM940196; Agammaglobulinaemia; Missense/nonsense CM960208; Agammaglobulinaemia; Missense/nonsense CM993927; Agammaglobulinaemia; Missense/nonsense CM952092; Agammaglobulinaemia; Missense/nonsense CM970202; Agammaglobulinaemia; Missense/nonsense CM993928; Agammaglobulinaemia; Missense/nonsense CM970203; Agammaglobulinaemia; Missense/nonsense CM024767; Agammaglobulinaemia; Missense/nonsense CM980276; Agammaglobulinaemia; Missense/nonsense CM014843; Agammaglobulinaemia; Missense/nonsense CM950168; Agammaglobulinaemia; Missense/nonsense CM035783; Agammaglobulinaemia; Missense/nonsense CM950169; Agammaglobulinaemia; Missense/nonsense CM993326; Agammaglobulinaemia; Missense/nonsense CM993327; Agammaglobulinaemia; Missense/nonsense CM984168; Agammaglobulinaemia; Missense/nonsense CM030803; Agammaglobulinaemia; Missense/nonsense CM940198; Agammaglobulinaemia; Missense/nonsense CM940197; Agammaglobulinaemia; Missense/nonsense CM952093; Agammaglobulinaemia; Missense/nonsense CM960209; Agammaglobulinaemia; Missense/nonsense CM983657; Agammaglobulinaemia; Missense/nonsense CM057429; Primary immunodeficiency disease; Missense/nonsense CM092946; Agammaglobulinaemia; Missense/nonsense CM983658; Agammaglobulinaemia; Missense/nonsense CM940199; Agammaglobulinaemia; Missense/nonsense CM950170; Agammaglobulinaemia; Missense/nonsense CM980277; Agammaglobulinaemia; Missense/nonsense CM950171; Agammaglobulinaemia; Missense/nonsense CM950172; Agammaglobulinaemia; Missense/nonsense CM993929; Agammaglobulinaemia; Missense/nonsense CM015169; Agammaglobulinaemia; Missense/nonsense CM980278; Agammaglobulinaemia; Missense/nonsense CM003418; Agammaglobulinaemia; Missense/nonsense CM030804; Agammaglobulinaemia; Missense/nonsense CM057499; Agammaglobulinaemia; Missense/nonsense CM030805; Agammaglobulinaemia; Missense/nonsense CM940200; Agammaglobulinaemia; Missense/nonsense CM960210; Agammaglobulinaemia; Missense/nonsense CM092947; Agammaglobulinaemia; Missense/nonsense CM012070; Agammaglobulinaemia; Missense/nonsense CM993328; Agammaglobulinaemia; Missense/nonsense CM056545; Agammaglobulinaemia; Missense/nonsense CM066740; Agammaglobulinaemia; Missense/nonsense CM983659; Agammaglobulinaemia; Missense/nonsense CM962740; Agammaglobulinaemia; Missense/nonsense CM983660; Agammaglobulinaemia; Missense/nonsense CM940202; Agammaglobulinaemia; Missense/nonsense CM940201; Agammaglobulinaemia; Missense/nonsense CM962540; Agammaglobulinaemia; Missense/nonsense CM980279; Agammaglobulinaemia; Missense/nonsense CM014814; Agammaglobulinaemia; Missense/nonsense CM034387; Agammaglobulinaemia; Missense/nonsense CM012071; Agammaglobulinaemia; Missense/nonsense CM014844; Agammaglobulinaemia; Missense/nonsense CM950173; Agammaglobulinaemia; Missense/nonsense CM993930; Agammaglobulinaemia; Missense/nonsense CM067654; Agammaglobulinaemia; Missense/nonsense CM056534; Agammaglobulinaemia; Missense/nonsense CM015170; Agammaglobulinaemia; Missense/nonsense CM092948; Agammaglobulinaemia; Missense/nonsense CM081545; Agammaglobulinaemia; Missense/nonsense CM993329; Agammaglobulinaemia; Missense/nonsense CM056543; Agammaglobulinaemia; Missense/nonsense CM092949; Agammaglobulinaemia; Missense/nonsense CM060203; Agammaglobulinaemia; Missense/nonsense CM015171; Agammaglobulinaemia; Missense/nonsense CM940203; Agammaglobulinaemia; Missense/nonsense CM950174; Agammaglobulinaemia; Missense/nonsense CM010788; Agammaglobulinaemia; Missense/nonsense CM092950; Agammaglobulinaemia; Missense/nonsense CM040692; Agammaglobulinaemia; Missense/nonsense CM092951; Agammaglobulinaemia; Missense/nonsense CM014845; Agammaglobulinaemia; Missense/nonsense CM024285; Agammaglobulinaemia; Missense/nonsense CM950175; Agammaglobulinaemia; Missense/nonsense CM070660; Agammaglobulinaemia; Missense/nonsense CM980280; Agammaglobulinaemia; Missense/nonsense CM066745; Agammaglobulinaemia; Missense/nonsense CM040387; Agammaglobulinaemia; Missense/nonsense CM940204; Agammaglobulinaemia; Missense/nonsense CM980281; Agammaglobulinaemia; Missense/nonsense CM993330; Agammaglobulinaemia; Missense/nonsense CM057497; Agammaglobulinaemia; Missense/nonsense CM040388; Agammaglobulinaemia; Missense/nonsense CM940205; Agammaglobulinaemia; Missense/nonsense CM960211; Agammaglobulinaemia; Missense/nonsense CM003419; Agammaglobulinaemia; Missense/nonsense CM980282; Agammaglobulinaemia; Missense/nonsense CM950176; Agammaglobulinaemia; Missense/nonsense CM002246; Agammaglobulinaemia; Missense/nonsense CM993931; Agammaglobulinaemia; Missense/nonsense CM004681; Agammaglobulinaemia; Missense/nonsense CM014846; Agammaglobulinaemia; Missense/nonsense CM970204; Agammaglobulinaemia; Missense/nonsense CM952094; Agammaglobulinaemia; Missense/nonsense CM087297; Bruton disease ?; Missense/nonsense CM081547; Agammaglobulinaemia; Missense/nonsense CM993932; Agammaglobulinaemia; Missense/nonsense CM940206; Agammaglobulinaemia; Missense/nonsense CM030806; Agammaglobulinaemia; Missense/nonsense CM973017; Agammaglobulinaemia; Missense/nonsense CM940207; Agammaglobulinaemia; Missense/nonsense CM057498; Agammaglobulinaemia; Missense/nonsense CM023893; Agammaglobulinaemia; Missense/nonsense CM014847; Agammaglobulinaemia; Missense/nonsense CM014848; Agammaglobulinaemia; Missense/nonsense CM092952; Agammaglobulinaemia; Missense/nonsense CM993933; Agammaglobulinaemia; Missense/nonsense CM050185; Hyper-IgM syndrome; Missense/nonsense CM014849; Agammaglobulinaemia; Missense/nonsense CM983661; Agammaglobulinaemia; Missense/nonsense CM973018; Agammaglobulinaemia; Missense/nonsense CM970205; Agammaglobulinaemia; Missense/nonsense CM980283; Agammaglobulinaemia; Missense/nonsense CM030807; Agammaglobulinaemia; Missense/nonsense CM056542; Agammaglobulinaemia; Missense/nonsense CM983662; Agammaglobulinaemia; Missense/nonsense CM940208; Agammaglobulinaemia; Missense/nonsense CM973019; Agammaglobulinaemia; Missense/nonsense CM067355; Agammaglobulinaemia; Missense/nonsense CM960212; Agammaglobulinaemia; Missense/nonsense CM092953; Agammaglobulinaemia; Missense/nonsense CM030808; Agammaglobulinaemia; Missense/nonsense CM960213; Agammaglobulinaemia; Missense/nonsense CM940209; Agammaglobulinaemia; Missense/nonsense CM081544; Agammaglobulinaemia; Missense/nonsense CM950177; Agammaglobulinaemia; Missense/nonsense CM092954; Agammaglobulinaemia; Missense/nonsense CM950178; Agammaglobulinaemia; Missense/nonsense CM014850; Agammaglobulinaemia; Missense/nonsense CM092955; Agammaglobulinaemia; Missense/nonsense CM960214; Agammaglobulinaemia; Missense/nonsense CM973353; Agammaglobulinaemia; Missense/nonsense CM015173; Agammaglobulinaemia; Missense/nonsense CM952095; Agammaglobulinaemia; Missense/nonsense CM015174; Agammaglobulinaemia; Missense/nonsense CM066742; Agammaglobulinaemia; Missense/nonsense CM092956; Agammaglobulinaemia; Missense/nonsense CM940210; Agammaglobulinaemia; Missense/nonsense CR983899; Agammaglobulinaemia; Regulatory CR982407; Agammaglobulinaemia; Regulatory CS982094; Agammaglobulinaemia; Splicing CS015196; Agammaglobulinaemia; Splicing CS012203; Agammaglobulinaemia; Splicing CS067076; Agammaglobulinaemia; Splicing CS087280; Agammaglobulinaemia; Splicing CS982099; Agammaglobulinaemia; Splicing CS982100; Agammaglobulinaemia; Splicing CS941431; Agammaglobulinaemia; Splicing CS973723; Agammaglobulinaemia; Splicing CS012205; Agammaglobulinaemia; Splicing CS962668; Agammaglobulinaemia; Splicing CS001409; Agammaglobulinaemia; Splicing CS951365; Agammaglobulinaemia; Splicing CS040129; Agammaglobulinaemia; Splicing CS056729; Agammaglobulinaemia; Splicing CS004152; Agammaglobulinaemia; Splicing CS056730; Agammaglobulinaemia; Splicing HS030001; Agammaglobulinaemia; Splicing CS941432; Agammaglobulinaemia; Splicing CS056731; Agammaglobulinaemia; Splicing CS040527; Agammaglobulinaemia; Splicing CS035060; Agammaglobulinaemia; Splicing CS016086; Agammaglobulinaemia; Splicing CS982101; Agammaglobulinaemia; Splicing CS066270; Agammaglobulinaemia; Splicing CS067077; Agammaglobulinaemia; Splicing CS022091; Agammaglobulinaemia; Splicing CS951366; Agammaglobulinaemia; Splicing CS086389; Agammaglobulinaemia; Splicing CS971634; Agammaglobulinaemia; Splicing CS983696; Agammaglobulinaemia; Splicing CS001410; Agammaglobulinaemia; Splicing CS024777; Agammaglobulinaemia; Splicing CS961496; Agammaglobulinaemia; Splicing CS056732; Agammaglobulinaemia; Splicing CS040528; Agammaglobulinaemia; Splicing CS022092; Agammaglobulinaemia; Splicing CS002443; Agammaglobulinaemia; Splicing CS015198; Agammaglobulinaemia; Splicing CS040529; Agammaglobulinaemia; Splicing CS015199; Agammaglobulinaemia; Splicing CS056733; Agammaglobulinaemia; Splicing CS040530; Agammaglobulinaemia; Splicing CS951367; Agammaglobulinaemia; Splicing CS941433; Agammaglobulinaemia; Splicing CS092971; Agammaglobulinaemia; Splicing CS952221; Agammaglobulinaemia; Splicing CS971635; Agammaglobulinaemia; Splicing CS971636; Agammaglobulinaemia; Splicing CS035061; Agammaglobulinaemia; Splicing CS035062; Agammaglobulinaemia; Splicing CS092960; Agammaglobulinaemia; Splicing CS982102; Agammaglobulinaemia; Splicing CS066271; Agammaglobulinaemia ?; Splicing CS040531; Agammaglobulinaemia; Splicing CS056734; Agammaglobulinaemia; Splicing CS015200; Agammaglobulinaemia; Splicing CS056735; Agammaglobulinaemia; Splicing CS056736; Agammaglobulinaemia; Splicing CS024778; Agammaglobulinaemia; Splicing CS971637; Agammaglobulinaemia; Splicing CS961494; Agammaglobulinaemia; Splicing CS984690; Agammaglobulinaemia; Splicing CS057222; Agammaglobulinaemia; Splicing CS962667; Agammaglobulinaemia; Splicing CS031434; Agammaglobulinaemia; Splicing CS971630; Agammaglobulinaemia; Splicing CS056737; Agammaglobulinaemia; Splicing CS984689; Agammaglobulinaemia; Splicing CS040525; Agammaglobulinaemia; Splicing CS961495; Agammaglobulinaemia; Splicing CS092957; Agammaglobulinaemia; Splicing CS982095; Agammaglobulinaemia; Splicing CS983693; Agammaglobulinaemia; Splicing CS024774; Agammaglobulinaemia; Splicing CS067078; Agammaglobulinaemia; Splicing CS056738; Agammaglobulinaemia; Splicing CS015197; Agammaglobulinaemia; Splicing CS024775; Agammaglobulinaemia; Splicing CS056739; Agammaglobulinaemia; Splicing CS071155; Agammaglobulinaemia; Splicing CS941429; Agammaglobulinaemia; Splicing CS951361; Agammaglobulinaemia; Splicing CS951362; Agammaglobulinaemia; Splicing CS951363; Agammaglobulinaemia; Splicing CS982096; Agammaglobulinaemia; Splicing CS004682; Agammaglobulinaemia; Splicing CS024776; Agammaglobulinaemia; Splicing CS963035; Agammaglobulinaemia; Splicing CS982097; Agammaglobulinaemia; Splicing CS056740; Agammaglobulinaemia; Splicing CS012204; Agammaglobulinaemia; Splicing CS056741; Agammaglobulinaemia; Splicing CS034461; Agammaglobulinaemia; Splicing CS015010; Agammaglobulinaemia; Splicing CS092958; Agammaglobulinaemia; Splicing CS066272; Agammaglobulinaemia; Splicing CS983694; Agammaglobulinaemia; Splicing CS971631; Agammaglobulinaemia; Splicing CS004683; Agammaglobulinaemia; Splicing CS983695; Agammaglobulinaemia; Splicing CS971632; Agammaglobulinaemia; Splicing CS971633; Agammaglobulinaemia; Splicing CS982098; Agammaglobulinaemia; Splicing CS040526; Agammaglobulinaemia; Splicing CS057514; Agammaglobulinaemia; Splicing CS045691; Agammaglobulinaemia; Splicing CS941430; Agammaglobulinaemia; Splicing CS951364; Agammaglobulinaemia; Splicing CS092959; Agammaglobulinaemia; Splicing |
| GWASdb (count: 4) | rs1122765; Atrial fibrillation; familial atrial fibrillation
rs2239461; Parkinson's disease; Parkinson's disease rs2238983; Urinary metabolites; kidney disease rs2238983; Telomere length; Null |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 41) (view all) | 115 EGPLYVFSPTEELRK dbPAF
179 NGSLKPGSSHRKTKK dbPAF 180 GSLKPGSSHRKTKKP dbPAF 184 PGSSHRKTKKPLPPT dbPAF 191 TKKPLPPTPEEDQIL dbPAF 20 RSQQKKKTSPLNFKK dbPAF 21 SQQKKKTSPLNFKKR dbPAF
223 LKKVVALYDYMPMNA dbPAF 225 KVVALYDYMPMNAND dbPAF 263 DKNGQEGYIPSNYVT dbPAF 279 AEDSIEMYEWYSKHM dbPAF 309 GGFIVRDSSKAGKYT dbPAF 310 GFIVRDSSKAGKYTV dbPAF 318 KAGKYTVSVFAKSTG dbPAF 323 TVSVFAKSTGDPQGV dbPAF 334 PQGVIRHYVVCSTPQ dbPAF 342 VVCSTPQSQYYLAEK dbPAF 344 CSTPQSQYYLAEKHL dbPAF 345 STPQSQYYLAEKHLF dbPAF 361 TIPELINYHQHNSAG dbPAF 366 INYHQHNSAGLISRL dbPAF 371 HNSAGLISRLKYPVS dbPAF 375 GLISRLKYPVSQQNK dbPAF 378 SRLKYPVSQQNKNAP dbPAF 40 TVHKLSYYEYDFERG dbPAF 461 HEKLVQLYGVCTKQR dbPAF 495 EMRHRFQTQQLLEMC dbPAF 51 FERGRRGSKKGSIDV dbPAF 511 DVCEAMEYLESKQFL dbPAF 543 KVSDFGLSRYVLDDE dbPAF 55 RRGSKKGSIDVEKIT dbPAF 551 RYVLDDEYTSSVGSK dbPAF 552 YVLDDEYTSSVGSKF dbPAF 553 VLDDEYTSSVGSKFP dbPAF 564 SKFPVRWSPPEVLMY dbPAF 602 KMPYERFTNSETAEH dbPAF 604 PYERFTNSETAEHIA dbPAF 617 IAQGLRLYRPHLASE dbPAF 623 LYRPHLASEKVYTIM dbPAF 659 LDVMDEES******* dbPAF 93 SSEMEQISIIERFPY dbPAF |
| Ubiquitination (count: 3) | 322 YTVSVFAKSTGDPQG PLMD
406 PKDLTFLKELGTGQF PLMD 536 VNDQGVVKVSDFGLS PLMD |
| Glycation (count: 2) | 26 KTSPLNFKKRLFLLT PLMD
36 LFLLTVHKLSYYEYD PLMD |