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BTK Bruton agammaglobulinemia tyrosine kinase [ Homo sapiens (human) ]

Gene ID: 695, updated on 22-May-2013

Summary

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Official Symbol: BTKprovided by HGNC
Official Full Name: Bruton agammaglobulinemia tyrosine kinaseprovided by HGNC
Primary source: HGNC:1133
Locus tag: RP1-164F3.2
See related: Ensembl:ENSG00000010671; HPRD:02248; MIM:300300; Vega:OTTHUMG00000022022
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; 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. [provided by RefSeq, Nov 2008]

Genomic context

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Location :: Xq21.33-q22

Sequence :: Chromosome: X; NC_000023.10 (100604435..100641212, complement)

See BTK in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

study reveals the existence of Btk-dependent molecular cooperation between FcgammaRIIa and TLR4 signaling cascades in LPS-"primed" human neutrophils
Title: Bruton's tyrosine kinase mediates FcγRIIa/Toll-like receptor-4 receptor crosstalk in human neutrophils.
Results indicate Bruton tyrosine kinase (Btk) activation mediating osteolysis and growth of multiple myeloma (MM) cells, supporting PCI-32765 as a therapeutic in MM.
Title: Bruton tyrosine kinase inhibition is a novel therapeutic strategy targeting tumor in the bone marrow microenvironment in multiple myeloma.
Data suggest a role of tyrosine kinase Btk in the regulation of immune cell unctions and innate inflammatory response.
Title: Tyrosine kinase Btk is required for NK cell activation.
mapped the interaction site to the C terminus of the Btk SH3 domain
Title: Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54).
The L111P and E650G variations are not located directly in protein-protein interfaces but close to them. They distorted the native structural conformation of the BTK protein.
Title: Consequences of two naturally occurring missense mutations in the structure and function of Bruton agammaglobulinemia tyrosine kinase.
Our data identify Btk as a critical gatekeeper of neutrophil responses
Title: The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils.
Absence of Btk expression in patient 4 confirmed
Title: Molecular characterization of Bruton's tyrosine kinase deficiency in 12 Iranian patients with presumed X-linked agammaglobulinemia.
We screened 52 members of 4 unrelated Taiwanese families with the BTK gene defect for BTK gene mutation and found that there were 6 symptomatic living patients with a confirmed defect.
Title: Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton's disease.
a novel role for Btk in HGF-induced DC inhibition.
Title: A novel role for Bruton's tyrosine kinase in hepatocyte growth factor-mediated immunoregulation of dendritic cells.
X-linked agammaglobulinemia is caused by mutations in the gene encoding Bruton tyrosine kinase.
Title: BTK gene mutation in two non-identical twins with X-linked agammaglobulinemia associated with polyarticular juvenile idiopathic arthritis.

Submit: New GeneRIF Correction See all (73)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin therapy. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.

Diagnosis Testing

The diagnosis of XLA is suspected in males with early-onset bacterial infections, marked reduction in all classes of serum immunoglobulins, and absent B cells (CD19+ cells); the decrease in the number of B cells is the most consistent and distinctive feature. The diagnosis is established or confirmed only in those individuals who have a mutation in BTK or who have a maternal uncle or cousin with absent B cells. Approximately 90% of males with early-onset infections, hypogammaglobulinemia, and absent B cells have mutations in BTK. The remaining 10% of patients have mutations in other genes that cause a failure in B cell development or have unknown causes of agammaglobulinemia. Molecular genetic testing of BTK is the most reliable way to identify female carriers of XLA.

Genetic Counseling

XLA is inherited in an X-linked manner. Mothers who have an affected son and one other affected relative in the maternal line (e.g., brother, uncle, nephew) are obligate carriers. Fifty percent of males have no family history of XLA. If an affected male has no family history of XLA, two possibilities exist: the mother is not a carrier and the affected male has a de novo disease-causing mutation (~15%-20% of cases) or the mother is a carrier of a disease-causing mutation (~80%-85% of cases). The risk to the sibs of a male proband depends on the mother's carrier status. All daughters of a male proband will inherit the mutant BTK allele and will be carriers for XLA. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.

References

PMID: 20301626

X-linked agammaglobulinemia with growth hormone deficiency

MIM: 307200

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q06187	P00519	ABL1	HPRD	PubMed
Q06187	Q99856	ARID3A	HPRD	PubMed
Q06187	Q8WV28	BLNK	HPRD	PubMed
Q06187	P51813	BMX	HPRD	PubMed
Q06187	Q06187	BTK	HPRD	PubMed
Q06187	Q03135	CAV1	HPRD	PubMed
Q06187	P22681	CBL	HPRD	PubMed
Q06187	P15391	CD19	HPRD	PubMed
Q06187	Q96MX0	CMTM3	HPRD	PubMed
Q06187	Q9UN19	DAPP1	HPRD	PubMed
Q06187	Q01844	EWSR1	HPRD	PubMed
Q06187	P25445	FAS	HPRD	PubMed
Q06187	Q03113	GNA12	HPRD	PubMed
Q06187	P50148	GNAQ	HPRD	PubMed
Q06187	P59768	GNG2	HPRD	PubMed
Q06187	P78347	GTF2I	HPRD	PubMed
Q06187	P08631	HCK	HPRD	PubMed
Q06187	Q9P2D0	IBTK	HPRD	PubMed
Q06187	P51617	IRAK1	HPRD	PubMed
Q06187	Q08881	ITK	HPRD	PubMed
Q06187	P23458	JAK1	HPRD	PubMed
Q06187	Q07666	KHDRBS1	HPRD	PubMed
Q06187	P10721	KIT	HPRD	PubMed
Q06187	P07948	LYN	HPRD	PubMed
Q06187	Q99836	MYD88	HPRD	PubMed
Q06187	Phosphoinositide 3 kinase adaptor protein 1	PIK3AP1	HPRD	PubMed
Q06187	P48426	PIP4K2A	HPRD	PubMed
Q06187	P78356	PIP4K2B	HPRD	PubMed
Q06187	Phosphatidylinositol-4-phosphate 5-kinase, type II, gamma	PIP4K2C	HPRD	PubMed
Q06187	Q99755	PIP5K1A	HPRD	PubMed
Q06187	O14986	PIP5K1B	HPRD	PubMed
Q06187	O60331	PIP5K1C	HPRD	PubMed
Q06187	P19174	PLCG1	HPRD	PubMed
Q06187	P16885	PLCG2	HPRD	PubMed
Q06187	P16885	PLCG2	HPRD	PubMed
Q06187	P17252	PRKCA	HPRD	PubMed
Q06187	P05771	PRKCB	HPRD	PubMed
Q06187	Q02156	PRKCE	HPRD	PubMed
Q06187	Q04759	PRKCQ	HPRD	PubMed
Q06187	Q05513	PRKCZ	HPRD	PubMed
Q06187	Q15139	PRKD1	HPRD	PubMed
Q06187	Q04206	RELA	HPRD	PubMed
Q06187	O14492	SH2B2	HPRD	PubMed
Q06187	O60239	SH3BP5	HPRD	PubMed
Q06187	P42229	STAT5A	HPRD	PubMed
Q06187	P43405	SYK	HPRD	PubMed
Q06187	P42680	TEC	HPRD	PubMed
Q06187	P58753	TIRAP	HPRD	PubMed
Q06187	O00206	TLR4	HPRD	PubMed
Q06187	Q9Y2C9	TLR6	HPRD	PubMed
Q06187	Q9NR97	TLR8	HPRD	PubMed
Q06187	Q9NR96	TLR9	HPRD	PubMed
Q06187	O00220	TNFRSF10A	HPRD	PubMed
Q06187	P04637	TP53	HPRD	PubMed
Q06187	P15498	VAV1	HPRD	PubMed
Q06187	P42768	WAS	HPRD	PubMed
Q06187	Q8IV90	WASF2	HPRD	PubMed
BioGRID:107160	BioGRID:106573	ACTA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:106602	ACTN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:116139	AFG3L2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:120424	ARHGAP17	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:108154	ARID3A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:106901	ARRB1	BioGRID	PubMed	Two-hybrid
BioGRID:107160	BioGRID:106987	ATP5A1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:106994	ATP5B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:115335	BCL2L11	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:118894	BLNK	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107160	BioGRID:107160	BTK	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Co-crystal Structure
BioGRID:107160	BioGRID:107305	CAV1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; Protein-peptide; Reconstituted Complex
BioGRID:107160	BioGRID:107316	CBLB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:117136	CORO1C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:107995	DBN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:108020	DDX3X	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:108238	EEF1A2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:108431	EWSR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:106852	FASLG	BioGRID	PubMed	Protein-peptide
BioGRID:107160	BioGRID:108605	FLNA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:108810	FYN	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:108868	GAPDH	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:109038	GNAQ	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107160	BioGRID:109044	GNB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:107160	BioGRID:109224	GTF2I	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:107160	BioGRID:109280	HADHA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:109305	HCK	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:132814	HRNR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Luminescence
BioGRID:107160	BioGRID:117474	IBTK	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107160	BioGRID:109863	IRAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:109919	JAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:115900	KHDRBS1	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide
BioGRID:107160	BioGRID:110050	KRT5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:110245	LYN	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:123219	MED28	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:110694	MYC	BioGRID	PubMed	Dosage Lethality
BioGRID:107160	BioGRID:110700	MYD88	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:124494	MYLK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:201336	Mbp	BioGRID	PubMed	Protein-peptide
BioGRID:107160	BioGRID:110799	NDUFS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:247522	Nedd4	BioGRID	PubMed	Biochemical Activity
BioGRID:107160	BioGRID:111344	PLAU	BioGRID	PubMed	Two-hybrid
BioGRID:107160	BioGRID:111352	PLCG2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:136994	POTEKP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:111565	PRKCB	BioGRID	PubMed	Reconstituted Complex
BioGRID:107160	BioGRID:111573	PRKD1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107160	BioGRID:112102	RPS3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:112112	RPS6KB1	BioGRID	PubMed	Biochemical Activity
BioGRID:107160	BioGRID:112113	RPS6KB2	BioGRID	PubMed	Biochemical Activity
BioGRID:107160	BioGRID:112319	SFPQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:114853	SH3BP5	BioGRID	PubMed	Affinity Capture-Western; Far Western; Reconstituted Complex
BioGRID:107160	BioGRID:112586	SPTA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:112653	STAT5A	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:107160	BioGRID:112717	SYK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:125325	TIRAP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:112954	TLR4	BioGRID	PubMed	Two-hybrid
BioGRID:107160	BioGRID:115616	TLR6	BioGRID	PubMed	Two-hybrid
BioGRID:107160	BioGRID:119462	TLR8	BioGRID	PubMed	Two-hybrid
BioGRID:107160	BioGRID:119902	TLR9	BioGRID	PubMed	Two-hybrid
BioGRID:107160	BioGRID:113128	TUBA4A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:115656	TUBB4B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:111723	TWF1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107160	BioGRID:113252	VAV1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107160	BioGRID:113293	WAS	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Pathways from BioSystems

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Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
Adaptive Immune System, organism-specific biosystem (from REACTOME)
Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
Antigen Activates B Cell Receptor Leading to Generation of Second Messengers, organism-specific biosystem (from REACTOME)
Antigen Activates B Cell Receptor Leading to Generation of Second Messengers, organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, Fu et al. 1975, Kunkel e...
B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
B cell receptor signaling pathway, organism-specific biosystem (from KEGG)
B cell receptor signaling pathway, organism-specific biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
B cell receptor signaling pathway, conserved biosystem (from KEGG)
B cell receptor signaling pathway, conserved biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
BCR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
BCR signaling pathway, organism-specific biosystem
BCR signaling pathway
Class I PI3K signaling events, organism-specific biosystem (from Pathway Interaction Database)
Class I PI3K signaling events, organism-specific biosystem
Class I PI3K signaling events
DAP12 interactions, organism-specific biosystem (from REACTOME)
DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
DAP12 signaling, organism-specific biosystem (from REACTOME)
DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
EPO signaling pathway, organism-specific biosystem
EPO signaling pathway
FAS (CD95) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
FAS (CD95) signaling pathway, organism-specific biosystem
FAS (CD95) signaling pathway
Fc epsilon RI signaling pathway, organism-specific biosystem (from KEGG)
Fc epsilon RI signaling pathway, organism-specific biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
Fc epsilon RI signaling pathway, conserved biosystem (from KEGG)
Fc epsilon RI signaling pathway, conserved biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem (from Pathway Interaction Database)
Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem
Fc-epsilon receptor I signaling in mast cells
Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
IL-5 Signaling Pathway, organism-specific biosystem (from WikiPathways)
IL-5 Signaling Pathway, organism-specific biosystemInterleukin-5 belongs to the family of cytokines, which includes IL-3 and GM-CSF. It signals through a receptor complex comprising of an IL-5 receptor alpha subunit (IL5RA), and a common beta chain w...
IL-6 Signaling Pathway, organism-specific biosystem (from WikiPathways)
IL-6 Signaling Pathway, organism-specific biosystemInterleukin-6 belongs to a family of cytokines which includes IL-11, ciliary neurotrophic factor (CNTF), cardiotropin-1, cardiotrophin-like cytokine, leukemia inhibitory factor (LIF) and Oncostatin M...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Kit Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
Kit Receptor Signaling Pathway, organism-specific biosystemKit is a receptor protein tyrosine kinase, which is a receptor for stem cell factor or kit ligand. Signaling through Kit is important for formation of red cells, lymphocytes, mast cells and platelets...
MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
Osteoclast differentiation, organism-specific biosystem (from KEGG)
Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
Osteoclast differentiation, conserved biosystem (from KEGG)
Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
Primary immunodeficiency, organism-specific biosystem (from KEGG)
Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
Primary immunodeficiency, conserved biosystem (from KEGG)
Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...

General gene information

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Markers

RH35738 (e-PCR)
- UniSTS:49927

GDB:607597 (e-PCR)
- UniSTS:158239

RH70566 (e-PCR)
- UniSTS:76605

RH93533 (e-PCR)
- UniSTS:84045

BTK_4321 (e-PCR)
- UniSTS:464467

RH70553 (e-PCR)
- UniSTS:7531

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

DXS178 (e-PCR)
- UniSTS:147598

G44349 (e-PCR)
- UniSTS:95136

GDB:376892 (e-PCR)
- UniSTS:98978

RH80171 (e-PCR)
- UniSTS:85182

DXS7424 (e-PCR)
- UniSTS:99310

GDB:555566 (e-PCR)
- UniSTS:157683

GDB:555569 (e-PCR)
- UniSTS:157684

Genotypes

See BTK SNP Geneview Report
See BTK SNP Genotype Report
See BTK SNP Variation Viewer Report

Homology

Homologs of the BTK gene: The BTK gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

MGC126261, MGC126262

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	TAS Traceable Author Statement more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
non-membrane spanning protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed
phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
B cell activation	TAS Traceable Author Statement more info	PubMed
B cell receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
I-kappaB kinase/NF-kappaB cascade	IEA Inferred from Electronic Annotation more info
MyD88-dependent toll-like receptor signaling pathway	TAS Traceable Author Statement more info
adaptive immune response	TAS Traceable Author Statement more info	PubMed
apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
calcium-mediated signaling	TAS Traceable Author Statement more info	PubMed
cell maturation	IEA Inferred from Electronic Annotation more info
innate immune response	TAS Traceable Author Statement more info	PubMed
intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
mesoderm development	TAS Traceable Author Statement more info	PubMed
peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of B cell differentiation	TAS Traceable Author Statement more info	PubMed
positive regulation of NF-kappaB transcription factor activity	TAS Traceable Author Statement more info	PubMed
protein phosphorylation	TAS Traceable Author Statement more info	PubMed
regulation of B cell apoptotic process	TAS Traceable Author Statement more info	PubMed
regulation of B cell cytokine production	TAS Traceable Author Statement more info	PubMed
toll-like receptor 2 signaling pathway	TAS Traceable Author Statement more info
toll-like receptor 4 signaling pathway	TAS Traceable Author Statement more info
toll-like receptor TLR1:TLR2 signaling pathway	TAS Traceable Author Statement more info
toll-like receptor TLR6:TLR2 signaling pathway	TAS Traceable Author Statement more info
toll-like receptor signaling pathway	TAS Traceable Author Statement more info
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	TAS Traceable Author Statement more info	PubMed
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
membrane raft	IDA Inferred from Direct Assay more info	PubMed
nucleus	TAS Traceable Author Statement more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: tyrosine-protein kinase BTK

Names: tyrosine-protein kinase BTK; B-cell progenitor kinase; agammaglobulinaemia tyrosine kinase; tyrosine-protein kinase BTK isoform (lacking exon 14); dominant-negative kinase-deficient Brutons tyrosine kinase

NP_000052.1

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.

Genomic

NG_009616.1 RefSeqGene

Range

5001..41778

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_128

mRNA and Protein(s)

NM_000061.2 → NP_000052.1 tyrosine-protein kinase BTK

Status: REVIEWED

Source sequence(s)

AK057105, BC109079, DA619542, DB636737

Consensus CDS

CCDS14482.1

UniProtKB/Swiss-Prot

Q06187

UniProtKB/TrEMBL

Q5JY90

Related

ENSP00000308176, OTTHUMP00000023676, ENST00000308731, OTTHUMT00000057532

Conserved Domains (6) summary

smart00107
Location:135 – 170
Blast Score: 181

BTK; Bruton's tyrosine kinase Cys-rich motif

cd05113
Location:397 – 652
Blast Score: 1394

PTKc_Btk_Bmx; Catalytic domain of the Protein Tyrosine Kinases, Bruton's tyrosine kinase and Bone marrow kinase on the X chromosome

cd01238
Location:5 – 131
Blast Score: 416

PH_Tec; Tec pleckstrin homology (PH) domain

cd10397
Location:274 – 379
Blast Score: 563

SH2_Tec_Btk; Src homology 2 (SH2) domain found in Tec protein, Bruton's tyrosine kinase (Btk)

pfam07714
Location:402 – 651
Blast Score: 1014

Pkinase_Tyr; Protein tyrosine kinase

cd11906
Location:217 – 271
Blast Score: 294

SH3_BTK; Src Homology 3 domain of Bruton's tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 PATCHES

Genomic

NW_004070883.1 Reference GRCh37.p10 PATCHES

Range

31123..67900, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p10 Primary Assembly

Range

100604435..100641212, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

90410583..90447505, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018934.1 Alternate CHM1_1.0

Range

100571433..100608208, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01044974.1	None
genomic	ABBA01044975.1	None
genomic	ABBA01044976.1	None
genomic	ABBA01044977.1	None
genomic	ABBA01044978.1	None
genomic	AL035422.12 (31223..68000)	None
genomic	AMYH01022725.1 (376115..412890)	None
genomic	CH471115.1	EAX02856.1
		EAX02857.1
		EAX02858.1
genomic	L31572.1	AAA61479.1
genomic	U10087.1	AAB60639.1
genomic	U13433.1	AAC51347.1
genomic	U78027.1	AAB64205.1
mRNA	AF153364.1	AAF61477.1
mRNA	AF153755.1	AAF37332.1
mRNA	AF153756.1	AAF37333.1
mRNA	AF153757.1	AAF37334.1
mRNA	AF153758.1	AAF37335.1
mRNA	AF153759.1	AAF37336.1
mRNA	AF153760.1	AAF37337.1
mRNA	AF153761.1	AAF37338.1
mRNA	AF153762.1	AAF37339.1
mRNA	AF153763.1	AAF37340.1
mRNA	AF153764.1	AAF37341.1
mRNA	AJ888376.1	CAI59842.1
mRNA	AJ888377.1	CAI59836.1
mRNA	AJ888378.1	CAI59837.1
mRNA	AJ888380.1	CAI59839.1
mRNA	AJ888381.1	CAI59840.1
mRNA	AK057105.1	BAG51864.1
mRNA	AK225577.1	None
mRNA	AK309851.1	None
mRNA	AK314382.1	BAG37008.1
mRNA	AM051275.1	CAJ19681.1
mRNA	AM051276.1	CAJ19682.1
mRNA	AM051277.1	CAJ19683.1
mRNA	AM051278.1	CAJ19684.1
mRNA	AM051279.1	CAJ19685.1
mRNA	AM051280.1	CAJ19686.1
mRNA	AM051281.1	CAJ19687.1
mRNA	AM051282.1	CAJ19688.1
mRNA	AM051283.1	CAJ19689.1
mRNA	AM051284.1	CAJ19690.1
mRNA	AM051285.1	CAJ19691.1
mRNA	AM051286.1	CAJ19692.1
mRNA	BC109079.1	AAI09080.1
mRNA	BC109080.1	AAI09081.1
mRNA	DA619542.1	None
mRNA	DB636737.1	None
mRNA	X58957.1	CAA41728.1