Overview

Location [1]
8q24.3
Pathway
Cellular architecture and microenvironment
Protein [2]
Focal adhesion kinase 1
Synonyms [1]
FAK1, FRNK, FADK, p125FAK, pp125FAK, FAK, PPP1R71

Protein tyrosine kinase 2 (PTK2; also known as FAK) is a gene that encodes a cytoplasmic protein that is found in focal adhesions that form between cells situated around extracellular matrix constituents. The protein promotes cell growth and plays a role in intracellular signal transduction pathways that are activated in response to neural peptides or cellular interactions with the extracellular matrix. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PTK2 is altered in 0.54% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, invasive breast carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

PTK2 GENIE Cases - Top Diseases

The most common alterations in PTK2 are PTK2 Mutation (1.37%), PTK2 Amplification (0.46%), PTK2 Fusion (0.05%), PTK2-AGO2 Fusion (0.01%), and PTK2 E789K (0.02%) [3].

PTK2 GENIE Cases - Top Alterations

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.