Overview

Location [1]
Xq22.1
Pathway
Immune checkpoints
Protein [2]
Tyrosine-protein kinase BTK
Synonyms [1]
PSCTK1, IMD1, XLA, AT, BPK, AGMX1, ATK

Bruton agammaglobulinemia tyrosine kinase (BTK) is a gene that encodes a protein that functions in B-cell development. Missense, nonsense, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

BTK is altered in 1.27% of all cancers with lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and diffuse large B-cell lymphoma, not otherwise specified having the greatest prevalence of alterations [3].

BTK GENIE Cases - Top Diseases

The most common alterations in BTK are BTK Mutation (1.03%), BTK Loss (0.20%), BTK Amplification (0.05%), BTK Codon 481 Missense (0.06%), and BTK C481S (0.06%) [3].

BTK GENIE Cases - Top Alterations

Significance of BTK in Diseases

Chronic Lymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Waldenstrom Macroglobulinemia +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.