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

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. Acts upstream of or within several processes, including B cell affinity maturation; I-kappaB kinase/NF-kappaB signaling; and negative regulation of B cell proliferation. Located in cytoplasmic vesicle 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, Apr 2022]
Expression: Biased expression in liver E14 (RPKM 7.3), liver E14.5 (RPKM 5.9) and 11 other tissues See more
Orthologs: human all
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Genomic context

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bruton's tyrosine kinase ablation inhibits B cell responses and antibody production for the prevention of chronic rejection in cardiac transplantation.
Title: Bruton's tyrosine kinase ablation inhibits B cell responses and antibody production for the prevention of chronic rejection in cardiac transplantation.
Bruton's Tyrosine Kinase in Neutrophils Is Crucial for Host Defense against Klebsiella pneumoniae.
Title: Bruton's Tyrosine Kinase in Neutrophils Is Crucial for Host Defense against Klebsiella pneumoniae.
Bruton's tyrosine kinase-bearing B cells and microglia in neuromyelitis optica spectrum disorder.
Title: Bruton's tyrosine kinase-bearing B cells and microglia in neuromyelitis optica spectrum disorder.
Loss of BTK ameliorates the pathological cardiac fibrosis and dysfunction.
Title: Loss of BTK ameliorates the pathological cardiac fibrosis and dysfunction.
Bruton's TK regulates myeloid cell recruitment during acute inflammation.
Title: Bruton's TK regulates myeloid cell recruitment during acute inflammation.
Bruton's tyrosine kinase drives neuroinflammation and anxiogenic behavior in mouse models of stress.
Title: Bruton's tyrosine kinase drives neuroinflammation and anxiogenic behavior in mouse models of stress.
Bruton's Tyrosine Kinase-Mediated Signaling in Myeloid Cells Is Required for Protective Innate Immunity During Pneumococcal Pneumonia.
Title: Bruton's Tyrosine Kinase-Mediated Signaling in Myeloid Cells Is Required for Protective Innate Immunity During Pneumococcal Pneumonia.
Bruton's tyrosine kinase regulates macrophageinduced inflammation in the diabetic kidney via NLRP3 inflammasome activation.
Title: Bruton's tyrosine kinase regulates macrophage‑induced inflammation in the diabetic kidney via NLRP3 inflammasome activation.
BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity.
Title: BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity.
Bruton's tyrosine kinase inhibition induces rewiring of proximal and distal B-cell receptor signaling in mice.
Title: Bruton's tyrosine kinase inhibition induces rewiring of proximal and distal B-cell receptor signaling in mice.

Submit: New GeneRIF Correction See all GeneRIFs (125)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (6) 1 citation
Chemically induced (ENU) (3)
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI528679 (e-PCR)
- UniSTS:186181

PMC24278P1 (e-PCR)
- UniSTS:272251

Btk (e-PCR), detects polymorphism
- UniSTS:141197

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables non-membrane spanning protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phospholipase activator activity	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell affinity maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in B cell receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to interleukin-7	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to molecule of fungal origin	ISO Inferred from Sequence Orthology more info
involved_in cellular response to reactive oxygen species	ISO Inferred from Sequence Orthology more info
involved_in eosinophil homeostasis	ISO Inferred from Sequence Orthology more info
involved_in histamine secretion by mast cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in monocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of B cell activation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-10 production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of leukocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in neutrophil homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NLRP3 inflammasome complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of immunoglobulin production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-17A production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phagocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synoviocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of type I hypersensitivity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of type III hypersensitivity	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteoglycan catabolic process	ISO Inferred from Sequence Orthology more info
involved_in response to lipopolysaccharide	ISO Inferred from Sequence Orthology more info
involved_in response to organic substance	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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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

EC 2.7.10.2

XP_006528546.1

EC 2.7.10.2

XP_006528547.1

EC 2.7.10.2

XP_006528548.1

EC 2.7.10.2

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)

NM_013482.2 → NP_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: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 → 378

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

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

133443083..133484366 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528485.5 → XP_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: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 → 378

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
XM_006528483.5 → XP_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: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 → 378

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
XM_006528484.5 → XP_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: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 → 378

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