Location [1]
Protein [2]
Rho guanine nucleotide exchange factor 12
Synonyms [1]

Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12) is a gene that encodes a protein that functions as a Rho GTPase. The protein is involved in cellular processes that are propagated by G protein-coupled receptors. The protein may form a complex with G proteins and initiates Rho-dependent signaling. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

ARHGEF12 is altered in 2.42% of all cancers with lung adenocarcinoma, colon adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and glioblastoma having the greatest prevalence of alterations [3].

ARHGEF12 GENIE Cases - Top Diseases

The most common alterations in ARHGEF12 are ARHGEF12 H1280P (0.06%), ARHGEF12 R1385C (0.06%), ARHGEF12 G1257V (0.06%), ARHGEF12 G81E (0.05%), and ARHGEF12 K1539M (0.05%) [3].

ARHGEF12 GENIE Cases - Top Alterations


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.