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Btk Bruton agammaglobulinemia tyrosine kinase [ Mus musculus (house mouse) ]

Gene ID: 12229, updated on 4-Jan-2025

Summary

Official Symbol
Btkprovided by MGI
Official Full Name
Bruton agammaglobulinemia tyrosine kinaseprovided by MGI
Primary source
MGI:MGI:88216
See related
Ensembl:ENSMUSG00000031264 AllianceGenome:MGI:88216
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
xid
Summary
Enables protein tyrosine kinase activity. Involved in negative regulation of cytokine production and positive regulation of NLRP3 inflammasome complex assembly. Acts upstream of or within several processes, including B cell affinity maturation; cellular response to interleukin-7; and negative regulation of B cell proliferation. Located in cytoplasmic vesicle; membrane raft; and nucleus. Is expressed in liver left lobe; liver right lobe; spleen; and thymus primordium. Used to study X-linked agammaglobulinemia. Human ortholog(s) of this gene implicated in agammaglobulinemia (multiple); isolated growth hormone deficiency type III; and lymphoma (multiple). Orthologous to human BTK (Bruton tyrosine kinase). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Biased expression in liver E14 (RPKM 7.3), liver E14.5 (RPKM 5.9) and 11 other tissues See more
Orthologs
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Genomic context

See Btk in Genome Data Viewer
Location:
X E3; X 56.18 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (133443083..133484366, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (134542334..134583628, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene osteoclast-stimulating factor 1 pseudogene Neighboring gene translocase of inner mitochondrial membrane 8A1 Neighboring gene STARR-seq mESC enhancer starr_47960 Neighboring gene ribosomal protein L36A Neighboring gene galactosidase, alpha

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding  
enables histone H2AXY142 kinase activity  
enables histone H3Y41 kinase activity  
enables identical protein binding  
enables identical protein binding  
enables metal ion binding  
enables non-membrane spanning protein tyrosine kinase activity  
enables non-membrane spanning protein tyrosine kinase activity  
enables non-membrane spanning protein tyrosine kinase activity  
enables phosphatidylinositol-3,4,5-trisphosphate binding  
enables phosphatidylinositol-3,4,5-trisphosphate binding  
enables phospholipase activator activity  
enables phospholipase activator activity  
enables phospholipase binding  
enables phospholipase binding  
enables protein binding PubMed 
enables protein tyrosine kinase activity PubMed 
enables protein tyrosine kinase activity PubMed 
enables protein tyrosine kinase activity  
Items 1 - 25 of 58
Process Evidence Code Pubs
acts_upstream_of_or_within B cell affinity maturation PubMed 
involved_in B cell receptor signaling pathway  
involved_in B cell receptor signaling pathway  
involved_in B cell receptor signaling pathway  
involved_in T cell receptor signaling pathway  
involved_in adaptive immune response  
involved_in apoptotic process  
acts_upstream_of_or_within cell maturation PubMed 
acts_upstream_of_or_within cellular response to interleukin-7 PubMed 
involved_in cellular response to molecule of fungal origin  
involved_in cellular response to molecule of fungal origin  
involved_in cellular response to reactive oxygen species  
involved_in cellular response to reactive oxygen species  
involved_in chromatin remodeling  
involved_in eosinophil homeostasis  
involved_in eosinophil homeostasis  
involved_in histamine secretion by mast cell  
involved_in histamine secretion by mast cell  
involved_in innate immune response  
involved_in intracellular signal transduction  
involved_in intracellular signal transduction  
involved_in monocyte proliferation  
involved_in monocyte proliferation  
involved_in negative regulation of B cell activation  
acts_upstream_of_or_within negative regulation of B cell proliferation PubMed 
involved_in negative regulation of cytokine production PubMed 
involved_in negative regulation of interleukin-10 production  
involved_in negative regulation of interleukin-10 production  
involved_in negative regulation of leukocyte proliferation  
involved_in neutrophil homeostasis  
involved_in neutrophil homeostasis  
acts_upstream_of_or_within peptidyl-tyrosine phosphorylation PubMed 
involved_in peptidyl-tyrosine phosphorylation  
involved_in positive regulation of B cell proliferation  
involved_in positive regulation of B cell proliferation  
involved_in positive regulation of NLRP3 inflammasome complex assembly PubMed 
involved_in positive regulation of NLRP3 inflammasome complex assembly  
involved_in positive regulation of immunoglobulin production  
involved_in positive regulation of immunoglobulin production  
involved_in positive regulation of interleukin-17A production  
involved_in positive regulation of interleukin-17A production  
involved_in positive regulation of interleukin-6 production  
involved_in positive regulation of interleukin-6 production  
involved_in positive regulation of phagocytosis  
involved_in positive regulation of phagocytosis  
involved_in positive regulation of synoviocyte proliferation  
involved_in positive regulation of synoviocyte proliferation  
involved_in positive regulation of tumor necrosis factor production  
involved_in positive regulation of tumor necrosis factor production  
involved_in positive regulation of type I hypersensitivity  
involved_in positive regulation of type I hypersensitivity  
involved_in positive regulation of type III hypersensitivity  
involved_in positive regulation of type III hypersensitivity  
acts_upstream_of_or_within protein phosphorylation PubMed 
involved_in proteoglycan catabolic process  
involved_in proteoglycan catabolic process  
involved_in response to lipopolysaccharide  
involved_in response to lipopolysaccharide  
Items 1 - 25 of 58
Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in cytoplasmic vesicle PubMed 
located_in cytosol  
located_in cytosol  
located_in membrane raft PubMed 
located_in membrane raft  
located_in nucleus PubMed 
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
is_active_in plasma membrane  
located_in plasma membrane  
located_in plasma membrane  

General protein information

Preferred Names
tyrosine-protein kinase BTK
Names
ATK
B-cell progenitor kinase
BPK
Bruton's tyrosine kinase
Tyrosine-protein kinase BTK (Brutons tyrosine kinase) (Agammaglobulinaemia tyrosine kinase) (ATK) (B cell progenitor kinase) (BPK) (Kinase EMB)
X-linked immune deficiency
agammaglobulinaemia tyrosine kinase
agammaglobulinemia tyrosine kinase
bruton tyrosine kinase
kinase EMB
NP_038510.2
XP_006528546.1
XP_006528547.1
XP_006528548.1

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.

mRNA and Protein(s)

  1. NM_013482.2NP_038510.2  tyrosine-protein kinase BTK

    See identical proteins and their annotated locations for NP_038510.2

    Status: VALIDATED

    Source sequence(s)
    BY596531, CJ044967, DT921900, L29788
    Consensus CDS
    CCDS30396.1
    UniProtKB/Swiss-Prot
    P35991, Q61365
    UniProtKB/TrEMBL
    Q7TMU1
    Related
    ENSMUSP00000033617.7, ENSMUST00000033617.13
    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:274378
    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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    133443083..133484366 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528485.5XP_006528548.1  tyrosine-protein kinase BTK isoform X1

    See identical proteins and their annotated locations for XP_006528548.1

    UniProtKB/Swiss-Prot
    P35991, Q61365
    UniProtKB/TrEMBL
    Q7TMU1
    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:274378
    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. XM_006528483.5XP_006528546.1  tyrosine-protein kinase BTK isoform X1

    See identical proteins and their annotated locations for XP_006528546.1

    UniProtKB/Swiss-Prot
    P35991, Q61365
    UniProtKB/TrEMBL
    Q7TMU1
    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:274378
    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
  3. XM_006528484.5XP_006528547.1  tyrosine-protein kinase BTK isoform X1

    See identical proteins and their annotated locations for XP_006528547.1

    UniProtKB/Swiss-Prot
    P35991, Q61365
    UniProtKB/TrEMBL
    Q7TMU1
    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:274378
    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
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