Details for: BTK

Gene ID: 695

Symbol: BTK

Ensembl ID: ENSG00000010671

Description: Bruton tyrosine kinase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: thymocyte (CL0000893)
    Fold Change: 5.25
    Marker Score: 5493
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 2.49
    Marker Score: 2995
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 2.39
    Marker Score: 1451
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.2
    Marker Score: 1553
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 2
    Marker Score: 3479
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.7
    Marker Score: 17247
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 1.63
    Marker Score: 376
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1162
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.54
    Marker Score: 2994.5
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.51
    Marker Score: 4103
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 1.49
    Marker Score: 1753
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 1.44
    Marker Score: 876
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.43
    Marker Score: 1436.5
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.34
    Marker Score: 5561
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.34
    Marker Score: 1258
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 1.32
    Marker Score: 1299
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 1.31
    Marker Score: 1169
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.31
    Marker Score: 988
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.3
    Marker Score: 3856
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.25
    Marker Score: 755
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 847
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.22
    Marker Score: 3036.5
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.19
    Marker Score: 584
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.18
    Marker Score: 30332
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.18
    Marker Score: 4827
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.15
    Marker Score: 406
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.12
    Marker Score: 359.5
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.1
    Marker Score: 302
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.09
    Marker Score: 535
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.08
    Marker Score: 12547.5
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 1.08
    Marker Score: 2255
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.07
    Marker Score: 7139
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.07
    Marker Score: 59600
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 1.06
    Marker Score: 704
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.06
    Marker Score: 719
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.05
    Marker Score: 2180
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.02
    Marker Score: 1036
  • Cell Name: pre-B-I cell (CL0000956)
    Fold Change: 1.01
    Marker Score: 259
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.01
    Marker Score: 532
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1
    Marker Score: 550
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71806
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48030
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 0.98
    Marker Score: 2367
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.96
    Marker Score: 964
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.96
    Marker Score: 399
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.96
    Marker Score: 400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5282
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.91
    Marker Score: 217
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.91
    Marker Score: 318
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.91
    Marker Score: 614
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: B-1a B cell (CL0000820)
    Fold Change: 0.89
    Marker Score: 214
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 0.88
    Marker Score: 231
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.88
    Marker Score: 306
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.87
    Marker Score: 434
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.86
    Marker Score: 624
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.82
    Marker Score: 398
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.79
    Marker Score: 906
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.79
    Marker Score: 1049
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.79
    Marker Score: 321
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.77
    Marker Score: 833
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.77
    Marker Score: 344
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.75
    Marker Score: 3165
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 569
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 458
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.71
    Marker Score: 1436
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.67
    Marker Score: 394
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.67
    Marker Score: 1068
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.66
    Marker Score: 228
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.66
    Marker Score: 1703
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.64
    Marker Score: 3909
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.64
    Marker Score: 407.5
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.63
    Marker Score: 313
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.63
    Marker Score: 434
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.62
    Marker Score: 412
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.61
    Marker Score: 632
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.59
    Marker Score: 429
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.57
    Marker Score: 301
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.56
    Marker Score: 279
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.55
    Marker Score: 137
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.54
    Marker Score: 518
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.54
    Marker Score: 405
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.54
    Marker Score: 224
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.51
    Marker Score: 7939
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 485
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5
    Marker Score: 228
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.5
    Marker Score: 157

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Other Information

**Key characteristics:** - BTK is a transmembrane protein with a molecular weight of approximately 120 kDa. - It is a member of the BTK family of tyrosine kinases, which are involved in cell signaling. - BTK is activated by a variety of cytokines and growth factors, including IL-2, IL-4, and TGF-β. - Once activated, BTK phosphorylates various substrates, including CD28, CD39, and p57. - These phosphorylations regulate the activation of T cells, B cells, and other immune cells. **Pathways and functions:** - BTK is involved in the adaptive immune system through multiple pathways. - In the adaptive immune system, BTK is expressed on thymocytes, which are responsible for the development and maintenance of immune tolerance. - BTK signaling is essential for the activation of CD8+ cytotoxic T cells, which are responsible for killing infected cells and tumor cells. - BTK is also involved in the development and maintenance of B cells. - In B cells, BTK signaling is essential for the differentiation of naive B cells into plasma cells, which are responsible for antibody production. **Clinical significance:** - Mutations in BTK have been linked to several human diseases, including cancer and autoimmune disorders. - In cancer, BTK mutations can lead to the activation of tumor cells and the development of tumors. - BTK inhibitors are being investigated as a treatment for cancer and other diseases that are characterized by BTK activation. **Additional notes:** - BTK is a highly conserved protein, with similar sequences found in organisms from yeast to humans. - BTK is a well-characterized protein that has been extensively studied in research. - BTK is a promising target for cancer immunotherapy.

Genular Protein ID: 1614508635

Symbol: BTK_HUMAN

Name: Tyrosine-protein kinase BTK

UniProtKB Accession Codes:

Q06187 B2RAW1 Q32ML5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 4 CORUM 1 CPTAC 2 CPTC 1 CTD 1 ChEBI 19 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 14 DrugCentral 1 EC 1 ELM 1 EMBL 42 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 56 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 14 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 1 PRINTS 4 PRO 1 PROSITE 7 PROSITE-ProRule 6 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 14 RefSeq 3 Rhea 3 SAM 1 SASBDB 1 SIGNOR 1 SMART 5 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8380905

Title: The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

PubMed ID: 8380905

DOI: 10.1038/361226a0

PubMed ID: 8090769

Title: Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.

PubMed ID: 8090769

DOI: 10.1073/pnas.91.19.9062

PubMed ID: 7927535

Title: The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia.

PubMed ID: 7927535

DOI: 10.1007/bf01246672

PubMed ID: 7880320

Title: Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

PubMed ID: 7880320

DOI: 10.1093/hmg/3.10.1743

PubMed ID: 7626884

Title: Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

PubMed ID: 7626884

DOI: 10.1007/bf00364796

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8425221

Title: Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.

PubMed ID: 8425221

DOI: 10.1016/0092-8674(93)90667-f

PubMed ID: 12573241

Title: Identification of phosphorylation sites within the SH3 domains of Tec family tyrosine kinases.

PubMed ID: 12573241

DOI: 10.1016/s1570-9639(02)00524-1

PubMed ID: 8013627

Title: An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

PubMed ID: 8013627

DOI: 10.1016/0014-5793(94)00457-9

PubMed ID: 8070576

Title: Tec homology (TH) adjacent to the PH domain.

PubMed ID: 8070576

DOI: 10.1016/0014-5793(94)00783-7

PubMed ID: 8630736

Title: Regulation of Btk function by a major autophosphorylation site within the SH3 domain.

PubMed ID: 8630736

DOI: 10.1016/s1074-7613(00)80417-3

PubMed ID: 9012831

Title: BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement.

PubMed ID: 9012831

DOI: 10.1073/pnas.94.2.604

PubMed ID: 9571151

Title: Identification and characterization of a novel SH3-domain binding protein, Sab, which preferentially associates with Bruton's tyrosine kinase (Btk).

PubMed ID: 9571151

DOI: 10.1006/bbrc.1998.8420

PubMed ID: 10196179

Title: Phosphatidylinositol 3-kinase-dependent membrane association of the Bruton's tyrosine kinase pleckstrin homology domain visualized in single living cells.

PubMed ID: 10196179

DOI: 10.1074/jbc.274.16.10983

PubMed ID: 10339589

Title: Bruton's tyrosine kinase activity is negatively regulated by Sab, the Btk-SH3 domain-binding protein.

PubMed ID: 10339589

DOI: 10.1073/pnas.96.11.6341

PubMed ID: 10602036

Title: Redistribution of Bruton's tyrosine kinase by activation of phosphatidylinositol 3-kinase and Rho-family GTPases.

PubMed ID: 10602036

DOI: 10.1002/1521-4141(200001)30:1<145::aid-immu145>3.0.co;2-0

PubMed ID: 11016936

Title: Nucleocytoplasmic shuttling of Bruton's tyrosine kinase.

PubMed ID: 11016936

DOI: 10.1074/jbc.m006952200

PubMed ID: 11598012

Title: PKCbeta modulates antigen receptor signaling via regulation of Btk membrane localization.

PubMed ID: 11598012

DOI: 10.1093/emboj/20.20.5692

PubMed ID: 11606584

Title: Tyrosine residues in phospholipase Cgamma 2 essential for the enzyme function in B-cell signaling.

PubMed ID: 11606584

DOI: 10.1074/jbc.m107577200

PubMed ID: 11577348

Title: Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein.

PubMed ID: 11577348

DOI: 10.1038/ni1001-939

PubMed ID: 11751885

Title: Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx.

PubMed ID: 11751885

DOI: 10.1074/jbc.m108537200

PubMed ID: 15375214

Title: A phosphorylation site in Bruton's tyrosine kinase selectively regulates B cell calcium signaling efficiency by altering phospholipase C-gamma activation.

PubMed ID: 15375214

DOI: 10.1073/pnas.0405878101

PubMed ID: 16644721

Title: Regulation of Bruton tyrosine kinase by the peptidylprolyl isomerase Pin1.

PubMed ID: 16644721

DOI: 10.1074/jbc.m603090200

PubMed ID: 16517732

Title: Bruton's tyrosine kinase is required for TLR2 and TLR4-induced TNF, but not IL-6, production.

PubMed ID: 16517732

DOI: 10.4049/jimmunol.176.6.3635

PubMed ID: 16738337

Title: Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I.

PubMed ID: 16738337

DOI: 10.1128/mcb.02009-05

PubMed ID: 16415872

Title: Suppressor of cytokine signaling 1 negatively regulates Toll-like receptor signaling by mediating Mal degradation.

PubMed ID: 16415872

DOI: 10.1038/ni1299

PubMed ID: 17932028

Title: Signaling by Toll-like receptors 8 and 9 requires Bruton's tyrosine kinase.

PubMed ID: 17932028

DOI: 10.1074/jbc.m707682200

PubMed ID: 19807924

Title: Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.

PubMed ID: 19807924

DOI: 10.1186/1471-2172-10-53

PubMed ID: 9751072

Title: Bruton's tyrosine kinase (BTK) as a dual-function regulator of apoptosis.

PubMed ID: 9751072

DOI: 10.1016/s0006-2952(98)00122-1

PubMed ID: 19290921

Title: Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain.

PubMed ID: 19290921

DOI: 10.1111/j.1600-065x.2008.00741.x

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23913792

Title: A novel isoform of the B cell tyrosine kinase BTK protects breast cancer cells from apoptosis.

PubMed ID: 23913792

DOI: 10.1002/gcc.22091

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 34554188

Title: BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity.

PubMed ID: 34554188

DOI: 10.1084/jem.20201656

PubMed ID: 9218782

Title: Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia.

PubMed ID: 9218782

DOI: 10.1093/emboj/16.12.3396

PubMed ID: 9485443

Title: Solution structure of the SH3 domain from Bruton's tyrosine kinase.

PubMed ID: 9485443

DOI: 10.1021/bi972409f

PubMed ID: 10196129

Title: Structure of the PH domain from Bruton's tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate.

PubMed ID: 10196129

DOI: 10.1016/s0969-2126(99)80057-4

PubMed ID: 10826882

Title: Solution structure of the human BTK SH3 domain complexed with a proline-rich peptide from p120cbl.

PubMed ID: 10826882

DOI: 10.1023/a:1008376624863

PubMed ID: 11527964

Title: Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.

PubMed ID: 11527964

DOI: 10.1074/jbc.m104828200

PubMed ID: 16969585

Title: Solution structure and phosphopeptide binding of the SH2 domain from the human Bruton's tyrosine kinase.

PubMed ID: 16969585

DOI: 10.1007/s10858-006-9064-3

PubMed ID: 20052711

Title: Structures of human Bruton's tyrosine kinase in active and inactive conformations suggest a mechanism of activation for TEC family kinases.

PubMed ID: 20052711

DOI: 10.1002/pro.321

PubMed ID: 21280133

Title: Insights into the conformational flexibility of Bruton's tyrosine kinase from multiple ligand complex structures.

PubMed ID: 21280133

DOI: 10.1002/pro.575

PubMed ID: 8594569

Title: BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

PubMed ID: 8594569

DOI: 10.1093/nar/24.1.160

PubMed ID: 9016530

Title: BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

PubMed ID: 9016530

DOI: 10.1093/nar/25.1.166

PubMed ID: 8162056

Title: Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

PubMed ID: 8162056

DOI: 10.1093/hmg/3.1.79

PubMed ID: 8162018

Title: Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.

PubMed ID: 8162018

DOI: 10.1093/hmg/3.1.161

PubMed ID: 7849697

Title: Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

PubMed ID: 7849697

DOI: 10.1093/hmg/3.10.1751

PubMed ID: 7849721

Title: Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

PubMed ID: 7849721

DOI: 10.1093/hmg/3.10.1899

PubMed ID: 7809124

Title: Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

PubMed ID: 7809124

DOI: 10.1073/pnas.91.26.12803

PubMed ID: 7849006

Title: Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

PubMed ID: 7849006

DOI: 10.1021/bi00005a002

PubMed ID: 7711734

Title: DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

PubMed ID: 7711734

DOI: 10.1093/hmg/4.1.51

PubMed ID: 7633420

Title: Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

PubMed ID: 7633420

DOI: 10.1093/hmg/4.4.693

PubMed ID: 7633429

Title: Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

PubMed ID: 7633429

DOI: 10.1093/hmg/4.4.755

PubMed ID: 8634718

Title: Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.

PubMed ID: 8634718

DOI: 10.1093/hmg/4.12.2403

PubMed ID: 7627183

Title: Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

PubMed ID: 7627183

DOI: 10.1002/humu.1380050405

PubMed ID: 7897635

Title: A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.

PubMed ID: 7897635

DOI: 10.1136/jmg.32.1.77

PubMed ID: 8723128

Title: Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.

PubMed ID: 8723128

DOI: 10.1002/(sici)1096-8628(19960503)63:1<318::aid-ajmg53>3.0.co;2-n

PubMed ID: 8695804

Title: Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

PubMed ID: 8695804

PubMed ID: 8834236

Title: Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

PubMed ID: 8834236

DOI: 10.1007/s004390050066

PubMed ID: 9280283

Title: Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

PubMed ID: 9280283

DOI: 10.1016/s0014-5793(97)00912-5

PubMed ID: 9260159

Title: Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.

PubMed ID: 9260159

DOI: 10.1007/bf03401694

PubMed ID: 9545398

Title: Mutations in btk in patients with presumed X-linked agammaglobulinemia.

PubMed ID: 9545398

DOI: 10.1086/301828

PubMed ID: 9445504

Title: Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

PubMed ID: 9445504

DOI: 10.1542/peds.101.2.276

PubMed ID: 10220140

Title: Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia.

PubMed ID: 10220140

DOI: 10.1002/(sici)1098-1004(1999)13:4<280::aid-humu3>3.0.co;2-l

PubMed ID: 10678660

Title: Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

PubMed ID: 10678660

DOI: 10.1002/(sici)1096-8628(20000131)90:3<229::aid-ajmg8>3.0.co;2-q

PubMed ID: 10612838

Title: Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.

PubMed ID: 10612838

DOI: 10.1002/(sici)1098-1004(200001)15:1<117::aid-humu26>3.0.co;2-h

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 24869598

Title: Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib.

PubMed ID: 24869598

DOI: 10.1056/nejmoa1400029

PubMed ID: 24869597

Title: Ibrutinib resistance in chronic lymphocytic leukemia.

PubMed ID: 24869597

DOI: 10.1056/nejmc1402716

PubMed ID: 25189416

Title: Functional characterization of BTK(C481S) mutation that confers ibrutinib resistance: exploration of alternative kinase inhibitors.

PubMed ID: 25189416

DOI: 10.1038/leu.2014.263

Sequence Information:

  • Length: 659
  • Mass: 76281
  • Checksum: DF06B5D1FEC257CC
  • Sequence:
    • MAAVILESIF LKRSQQKKKT SPLNFKKRLF LLTVHKLSYY EYDFERGRRG SKKGSIDVEK 
ITCVETVVPE KNPPPERQIP RRGEESSEME QISIIERFPY PFQVVYDEGP LYVFSPTEEL 
RKRWIHQLKN VIRYNSDLVQ KYHPCFWIDG QYLCCSQTAK NAMGCQILEN RNGSLKPGSS 
HRKTKKPLPP TPEEDQILKK PLPPEPAAAP VSTSELKKVV ALYDYMPMNA NDLQLRKGDE 
YFILEESNLP WWRARDKNGQ EGYIPSNYVT EAEDSIEMYE WYSKHMTRSQ AEQLLKQEGK 
EGGFIVRDSS KAGKYTVSVF AKSTGDPQGV IRHYVVCSTP QSQYYLAEKH LFSTIPELIN 
YHQHNSAGLI SRLKYPVSQQ NKNAPSTAGL GYGSWEIDPK DLTFLKELGT GQFGVVKYGK 
WRGQYDVAIK MIKEGSMSED EFIEEAKVMM NLSHEKLVQL YGVCTKQRPI FIITEYMANG 
CLLNYLREMR HRFQTQQLLE MCKDVCEAME YLESKQFLHR DLAARNCLVN DQGVVKVSDF 
GLSRYVLDDE YTSSVGSKFP VRWSPPEVLM YSKFSSKSDI WAFGVLMWEI YSLGKMPYER 
FTNSETAEHI AQGLRLYRPH LASEKVYTIM YSCWHEKADE RPTFKILLSN ILDVMDEES

Genular Protein ID: 794988476

Symbol: Q5JY90_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5JY90

Database IDs:

ARBA 14 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DNASU 1 EC 1 EMBL 5 EPD 1 Ensembl 2 GO 8 Gene3D 4 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 11 KEGG 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 4 PROSITE 9 PROSITE-ProRule 3 Pfam 5 PharmGKB 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 Rhea 3 RuleBase 1 SAM 1 SMART 4 SUPFAM 4 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.M800588-MCP200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 483
  • Mass: 55881
  • Checksum: EC1A5FB717810D71
  • Sequence:
    • MAAVILESIF LKRSQQKKKT SPLNFKKRLF LLTVHKLSYY EYDFERGRRG SKKGSIDVEK 
ITCVETVVPE KNPPPERQIP RRGEESSEME QISIIERFPY PFQVVYDEGP LYVFSPTEEL 
RKRWIHQLKN VIRYNSDLVQ KYHPCFWIDG QYLCCSQTAK NAMGCQILEN RNGSLKPGSS 
HRKTKKPLPP TPEEDQILKK PLPPEPAAAP VSTSELKKVV ALYDYMPMNA NDLQLRKGDE 
YFILEESNLP WWRARDKNGQ EGYIPSNYVT EAEDSIEMYE WYSKHMTRSQ AEQLLKQEGK 
EGGFIVRDSS KAGKYTVSVF AKSTGDPQGV IRHYVVCSTP QSQYYLAARN CLVNDQGVVK 
VSDFGLSRYV LDDEYTSSVG SKFPVRWSPP EVLMYSKFSS KSDIWAFGVL MWEIYSLGKM 
PYERFTNSET AEHIAQGLRL YRPHLASEKV YTIMYSCWHE KADERPTFKI LLSNILDVMD 
EES

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.