Overview

Location [1]
6q25.2-q27
Pathway
Protein degradation/ubiquitination
Synonyms [1]
LPRS2, AR-JP, PDJ, PRKN

Parkin RBR E3 ubiquitin protein ligase (PARK2) is a gene that encodes a protein that is a member of a multiprotein E3 ubiquitin ligase complex that functions in mediating the targeting of proteins for proteasomal degradation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

PARK2 is altered in 1.64% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

PARK2 GENIE Cases - Top Diseases

The most common alterations in PARK2 are PARK2 Loss (0.20%), PARK2 G430D (0.07%), PARK2 Amplification (0.03%), PARK2 P343L (0.03%), and PARK2 T173M (0.02%) [3].

PARK2 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.