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    BTK Bruton tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 695, updated on 19-Jul-2021

    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
    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
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (101349450..101390796, complement)
    105.20201022 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 translocase of inner mitochondrial membrane 8A Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ribosomal protein L36a Neighboring gene galactosidase alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    X-linked agammaglobulinemia
    MedGen: C0221026 OMIM: 300755 GeneReviews: X-Linked Agammaglobulinemia
    Compare labs
    X-linked agammaglobulinemia with growth hormone deficiency
    MedGen: C0472813 OMIM: 307200 GeneReviews: Not available
    Compare labs

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126261, MGC126262

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in B cell activation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in B cell affinity maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in B cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in B cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in adaptive immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in calcium-mediated signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to interleukin-7 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to molecule of fungal origin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to reactive oxygen species IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histamine secretion by mast cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mesoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of B cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of type I hypersensitivity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of type III hypersensitivity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autophosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of B cell apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of B cell cytokine production TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    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
    truncated Bruton agammaglobulinemia 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_000061.3NP_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
      Q06187
      UniProtKB/TrEMBL
      Q5JY90
      Related
      ENSP00000308176.8, ENST00000308731.8
      Conserved Domains (4) summary
      cd05113
      Location:397652
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10397
      Location:274379
      SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)
      cd11906
      Location:217271
      SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
      cd01238
      Location:6166
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
    2. NM_001287344.2NP_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/Swiss-Prot
      Q06187
      Related
      ENSP00000483570.1, ENST00000621635.4
      Conserved Domains (6) summary
      cd05113
      Location:431686
      PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome
      cd10397
      Location:308413
      SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)
      cd11906
      Location:251305
      SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
      cd01238
      Location:40200
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
      pfam00169
      Location:38167
      PH; PH domain
      pfam07714
      Location:436685
      Pkinase_Tyr; Protein tyrosine kinase
    3. NM_001287345.2NP_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/Swiss-Prot
      Q06187
      UniProtKB/TrEMBL
      Q5JY90
      Related
      ENSP00000361971.1, ENST00000372880.5
      Conserved Domains (4) summary
      cd11906
      Location:217271
      SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase
      cd01238
      Location:6166
      PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain
      cl15255
      Location:274350
      SH2; Src homology 2 (SH2) domain
      cl21453
      Location:346476
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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