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FLASH GENE
Symbol BTK contributors: mct/pgu - updated : 01-09-2011
HGNC name Bruton agammaglobulinemia tyrosine kinase
HGNC id 1133
Corresponding disease
AGMX1 agammaglobulinemia 1, Bruton type
IGHD3 agammaglobulinemia and isolated growth hormone deficiency
Location Xq22.1      Physical location : 100.604.434 - 100.641.212
Synonym name
  • B cell progenitor tyrosine kinase
  • dominant-negative kinase-deficient Brutons tyrosine kinase
  • tyrosine-protein kinase BTK
    • Synonym symbol(s) ATK, BPK, SRCR, IMD1, XLA, PSCTK1, MGC126261, MGC126262
    EC.number 2.7.10.2
    DNA
    TYPE functioning gene
    STRUCTURE 36.74 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC392507 X similar to HSPC129 protein LOC158656 Xq22.1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) PCDH19 Xq13.3 protocadherin 19 TNMD Xq21.33-q23 protocadherin 19 TM4SF6 Xq22 transmembrane 4 superfamily member 6 SRPUL Xq21.33-q23 sushi-repeat protein SYTL4 Xq21.33 synaptotagmin-like 4 (granuphilin-a) LOC392508 X similar to Double-strand-break repair protein rad21 homolog (hHR21) (Nuclear matrix protein 1) (NXP-1) (SCC1 homolog) CSTF2 Xq22.2-q22.3 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa NOX1 Xq22 NADPH oxidase 1 LOC389877 X similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC347424 Xq22.1 similar to TGF beta-inducible nuclear protein 1 (Hairy cell leukemia protein 1) (HUSSY-29) LOC286453 Xq22.1 similar to dJ341D10.1 (novel protein) LOC392509 X similar to hypothetical protein DKFZp761H079 isoform 1 FLJ12687 Xq22.1 hypothetical protein FLJ12687 FLJ14084 Xq22.1 hypothetical protein FLJ14084 FSHPRH1 Xq22 FSH primary response (LRPR1 homolog, rat) 1 LOC392510 X similar to 14-3-3 protein tau (14-3-3 protein theta) DRP2 Xq22 dystrophin related protein 2 TAF7L Xq22.1 TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa TIMM8A Xq22.1 translocase of inner mitochondrial membrane 8 homolog A (yeast) BTK Xq22.1-q22.2 Bruton agammaglobulinemia tyrosine kinase RPL36A Xq26.3-q27.3 ribosomal protein L36a GLA Xq22.11 galactosidase, alpha HNRPH2 Xq21.3-q22 heterogeneous nuclear ribonucleoprotein H2 (H') LOC389878 X LOC389878 MGC40053 Xq22.1 hypothetical protein MGC40053 LOC158948 Xq22.1 protein kinase C, iota pseudogene ALEX1 Xq21.33-q22.2 protein kinase C, iota pseudogene FLJ20811 Xq21.33-q22.3 hypothetical protein FLJ20811 ALEX3 Xq21.33-q22.2 ALEX3 protein ALEX2 Xq21.33-q22.2 ALEX2 protein GKP6 Xq22-q23 glycerol kinase pseudogene 6 NXF5 Xq22 nuclear RNA export factor 5 KIAA1789 Xq21 KIAA1789 protein my048 Xq22.1-q22.3 my048 protein LOC158931 Xq22.1 similar to hypothetical protein MGC15737 LOC340542 Xq22.1 hypothetical protein LOC340542 NXF2 Xq22-q23 nuclear RNA export factor 2 TMSNB Xq21.33-q22.3 thymosin, beta, identified in neuroblastoma cells LOC139707 Xq22.1 similar to checkpoint suppressor 1 NXF4 Xq22 nuclear RNA export factor 4 FLJ12969 Xq22.1-q22.3 hypothetical protein FLJ12969 GASP Xq22.1 G protein-coupled receptor-associated sorting protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2611 - 659 - 2001 11226282
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     spleen   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Pleckstrin homology (PH) domain, which is responsible for plasma membrane targeting
  • adjacent Tec homology domains in addition to the Src homology domains SH3, SH2, SH1 (SRC family, Tec subfamily)
    • HOMOLOGY
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • TEC subfamily
  • SRC family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    basic FUNCTION
  • non receptor tyrosine kinase
  • coupling activated immunoreceptors to downstream signaling events
  • playing crucial roles in the differentiation and activation of B and myeloid cells
  • having negative regulatory functions in dendritic cells, mediated mainly through autocrine secretion of IL10 and subsequent activation of STAT3
  • required for NFkappaB activation, participating in the pathway to increased phosphorylation of RELA on serine 536 activated by TLR8 and TLR9
  • is required for the initial loss of tolerance to DNA and the subsequent production of pathogenic autoantibodies once tolerance is breached
  • plays a central role in signal transduction pathways regulating survival, activation, proliferation, and differentiation of B-lineage lymphoid cells
  • BTK signaling is crucial for optimal actin cytoskeletal organization and lacunar resorption in isolated osteoclasts
  • essential for B cell development and function and also appears to be important for myeloid cells
  • important regulator of neutrophilic granulocyte maturation and function
  • positive regulator in the ITAM-mediated TREM1/TYROBP pathway, suggesting its implication in inflammatory processes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text B cell ontogeny
    PATHWAY
    metabolism
    signaling
    a component BTK PH domain forms a homodimer and each molecule binds phosphatidylinositol in the binding pocket
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly interacts with a nuclear component of Wnt-beta-catenin signaling, CDC73
  • ARID3A transiently interacts with sumoylation enzymes, blocks calcium flux and phosphorylation of BTK and GTF2II and is then discharged from lipid rafts as a Sumo-I-modified form
  • KAT2A binds to the 5prime proximal regions of SYK and BTK genes, suggesting that gene expressions of SYK and BTK are regulated by KAT2A
    • cell & other
    REGULATION
    activated by LYN (partly),SYK (modulated by BLNK)
    ASSOCIATED DISORDERS
    corresponding disease(s) AGMX1 , IGHD3
    related resource Bruton Agammaglobulinemia - BTK base
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in chronic lymphocytic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    promising therapeutic target for treatment of chronic lymphocytic leukemia and is effectively targeted by PCI-32765
    ANIMAL & CELL MODELS