Overview

Location [1]
8p11.23
Pathway
G-protein signaling
Synonyms [1]
EM

G-protein coupled receptor 124 (GPR124) is a gene that encodes an endothelial receptor protein that functions in the regulation of central nervous system angiogenesis. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

GPR124 is altered in 3.33% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, mixed lobular and ductal breast carcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

GPR124 GENIE Cases - Top Diseases

The most common alterations in GPR124 are GPR124 Amplification (2.98%), GPR124 A538V (0.23%), GPR124 I41V (0.15%), GPR124 S1276G (0.11%), and GPR124 R362H (0.10%) [3].

GPR124 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.