BTK
Chr XBruton tyrosine kinase
Also known as: AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BTK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Nemtabrutinib and Lisocabtagene Maraleucel for the Treatment of Relapsed/Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
RECRUITINGAcalabrutinib With or Without Obinutuzumab in Treating Patients With Early-Stage Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma
RECRUITINGNemtabrutinib With CAR T Therapy in Relapsed/Refractory Mantle Cell Lymphoma
RECRUITINGAS-1763 in Patients With Previously Treated CLL/SLL or Non-Hodgkin Lymphoma
RECRUITINGDeterminants of the Response to BTK Degraders (BTKd) in Chronic Lymphocytic Leukemia
RECRUITINGZanubrutinib and Lisocabtagene Maraleucel for the Treatment of Richter's Syndrome
RECRUITINGSKIN Disease Profiling by an Exploratory, pRospective, Biomarker Study in dermatoloGY Practice (SKINERGY)
RECRUITINGZanubrutinib and CAR T-cell Therapy for the Treatment of Recurrent or Refractory Aggressive B-cell Non-Hodgkin's Lymphoma or Transformed Indolent B-cell Lymphoma
ACTIVE NOT RECRUITINGIbrutinib, Rituximab, Etoposide, Prednisone, Vincristine Sulfate, Cyclophosphamide, and Doxorubicin Hydrochloride in Treating Patients With HIV-Positive Stage II-IV Diffuse Large B-Cell Lymphomas
ACTIVE NOT RECRUITINGOrelabrutinib in Combination with R-CHOP for CD5-positive DLBCL Patients（Rocket Trial）
RECRUITINGIbrutinib Before and After Stem Cell Transplant in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma
ACTIVE NOT RECRUITINGPrognostic Value of Circulating Tumoral DNA After the First 6 Months of Treatment in Patients With Waldenström Macroglobulinemia
RECRUITINGExternal Resources
Links to major genomics databases and tools