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    BTK Bruton tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 695, updated on 10-Dec-2024

    Summary

    Official Symbol
    BTKprovided by HGNC
    Official Full Name
    Bruton tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1133
    See related
    Ensembl:ENSG00000010671 MIM:300300; AllianceGenome:HGNC:1133
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1
    Summary
    The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
    Expression
    Biased expression in lymph node (RPKM 25.2), spleen (RPKM 18.4) and 13 other tissues See more
    Orthologs
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    Genomic context

    See BTK in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101349450..101390796, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99793571..99834908, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100604438..100645784, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29808 Neighboring gene translocase of inner mitochondrial membrane 8A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29809 Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29811 Neighboring gene ribosomal protein L36a Neighboring gene galactosidase alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (29 hits/933 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-03-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef A cell-based bimolecular fluorescence complementation assay demonstrates that HIV-1 Nef interacts with the Tec family members Bmx, Btk, and Itk, but not with Tec or Txk in 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC126261, MGC126262

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding PubMed 
    enables histone H2AXY142 kinase activity  
    enables histone H3Y41 kinase activity  
    enables identical protein binding PubMed 
    enables metal ion binding  
    enables non-membrane spanning protein tyrosine kinase activity  
    enables non-membrane spanning protein tyrosine kinase activity PubMed 
    enables non-membrane spanning protein tyrosine kinase activity PubMed 
    enables non-membrane spanning protein tyrosine kinase activity PubMed 
    enables phosphatidylinositol-3,4,5-trisphosphate binding PubMed 
    enables phospholipase activator activity PubMed 
    enables phospholipase binding PubMed 
    enables protein binding PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    Items 1 - 25 of 48
    Process Evidence Code Pubs
    involved_in B cell activation PubMed 
    involved_in B cell affinity maturation  
    involved_in B cell receptor signaling pathway  
    involved_in B cell receptor signaling pathway PubMed 
    involved_in B cell receptor signaling pathway PubMed 
    involved_in Fc-epsilon receptor signaling pathway  
    involved_in MyD88-dependent toll-like receptor signaling pathway  
    involved_in T cell receptor signaling pathway  
    involved_in adaptive immune response  
    involved_in adaptive immune response PubMed 
    involved_in apoptotic signaling pathway PubMed 
    involved_in calcium-mediated signaling PubMed 
    involved_in cell maturation  
    involved_in cellular response to interleukin-7  
    involved_in cellular response to molecule of fungal origin  
    involved_in cellular response to reactive oxygen species  
    involved_in chromatin remodeling  
    involved_in eosinophil homeostasis  
    involved_in histamine secretion by mast cell  
    involved_in innate immune response PubMed 
    involved_in intracellular signal transduction PubMed 
    involved_in intracellular signal transduction PubMed 
    involved_in intracellular signal transduction PubMed 
    involved_in mesoderm development PubMed 
    involved_in monocyte proliferation  
    involved_in negative regulation of B cell proliferation  
    involved_in negative regulation of interleukin-10 production  
    involved_in neutrophil homeostasis  
    involved_in peptidyl-tyrosine phosphorylation PubMed 
    involved_in peptidyl-tyrosine phosphorylation PubMed 
    involved_in positive regulation of B cell differentiation PubMed 
    involved_in positive regulation of B cell proliferation  
    involved_in positive regulation of NF-kappaB transcription factor activity PubMed 
    involved_in positive regulation of NLRP3 inflammasome complex assembly PubMed 
    involved_in positive regulation of cGAS/STING signaling pathway PubMed 
    involved_in positive regulation of immunoglobulin production  
    involved_in positive regulation of interleukin-17A production  
    involved_in positive regulation of interleukin-6 production  
    involved_in positive regulation of phagocytosis  
    involved_in positive regulation of synoviocyte proliferation  
    involved_in positive regulation of tumor necrosis factor production  
    involved_in positive regulation of type I hypersensitivity  
    involved_in positive regulation of type III hypersensitivity  
    involved_in protein phosphorylation PubMed 
    involved_in proteoglycan catabolic process  
    involved_in regulation of B cell apoptotic process PubMed 
    involved_in regulation of B cell cytokine production PubMed 
    involved_in response to lipopolysaccharide  
    Items 1 - 25 of 48
    Component Evidence Code Pubs
    is_active_in cytoplasm PubMed 
    located_in cytoplasmic vesicle  
    located_in cytosol PubMed 
    located_in cytosol PubMed 
    located_in membrane raft PubMed 
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    tyrosine-protein kinase BTK
    Names
    B-cell progenitor kinase
    Bruton agammaglobulinemia tyrosine kinase
    Bruton's tyrosine kinase
    agammaglobulinaemia tyrosine kinase
    dominant-negative kinase-deficient Brutons tyrosine kinase
    NP_000052.1
    NP_001274273.1
    NP_001274274.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009616.1 RefSeqGene

      Range
      429..41778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_128

    mRNA and Protein(s)

    1. NM_000061.3 → NP_000052.1  tyrosine-protein kinase BTK isoform 1

      See identical proteins and their annotated locations for NP_000052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK057105, BC109079, DA619542, DB636737
      Consensus CDS
      CCDS14482.1
      UniProtKB/Swiss-Prot
      B2RAW1, Q06187, Q32ML5
      UniProtKB/TrEMBL
      A0A8Q3SI35
      Related
      ENSP00000308176.8, ENST00000308731.8
      Conserved Domains (4) summary
      cd05113
      Location:397 → 652
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10397
      Location:274 → 379
      SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)
      cd11906
      Location:217 → 271
      SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
      cd01238
      Location:6 → 166
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
    2. NM_001287344.2 → NP_001274273.1  tyrosine-protein kinase BTK isoform 3

      See identical proteins and their annotated locations for NP_001274273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and CDS, and represents the use of an alternate promoter, compared to variant 1. The resulting protein (isoform 3) has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AK309851, AV733045, DB331677, DB636737
      Consensus CDS
      CCDS76003.1
      UniProtKB/TrEMBL
      A0A8Q3SI35
      Related
      ENSP00000483570.1, ENST00000621635.4
      Conserved Domains (6) summary
      cd05113
      Location:431 → 686
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10397
      Location:308 → 413
      SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)
      cd11906
      Location:251 → 305
      SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
      cd01238
      Location:40 → 200
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
      pfam00169
      Location:38 → 167
      PH; PH domain
      pfam07714
      Location:436 → 685
      Pkinase_Tyr; Protein tyrosine kinase
    3. NM_001287345.2 → NP_001274274.1  tyrosine-protein kinase BTK isoform 2

      See identical proteins and their annotated locations for NP_001274274.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and lacks several exons in the 3' CDS compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AK057105, AL035422, AU107296, BC109079, DA619542
      Consensus CDS
      CCDS76002.1
      UniProtKB/TrEMBL
      Q5JY90
      Related
      ENSP00000512057.1, ENST00000703407.1
      Conserved Domains (4) summary
      cd11906
      Location:217 → 271
      SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
      cd01238
      Location:6 → 166
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
      cl15255
      Location:274 → 350
      SH2; Src homology 2 (SH2) domain
      cl21453
      Location:346 → 476
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101349450..101390796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99793571..99834908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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