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BTK Bruton tyrosine kinase [ Homo sapiens (human) ]

Gene ID: 695, updated on 4-Jan-2025

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

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)

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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
    B2RAW1, Q06187, Q32ML5
    UniProtKB/TrEMBL
    A0A8Q3SI35
    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/TrEMBL
    A0A8Q3SI35
    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/TrEMBL
    Q5JY90
    Related
    ENSP00000512057.1, ENST00000703407.1
    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: 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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