Location [1]
Protein [2]
Transcription factor SOX-2
Synonyms [1]

SRY (sex determining region y)-box 2 (SOX2) is a gene that encodes a transcription factor protein that is a member of the SOX family. The protein functions in the regulation of embryonic development and stem-cell maintenance in the central nervous system. Missense mutations and silent mutations are observed in cancers such as cervical cancer, endometrial cancer, and intestinal cancer.

SOX2 is altered in 1.34% of all cancers with squamous cell lung carcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

SOX2 GENIE Cases - Top Diseases

The most common alterations in SOX2 are SOX2 Amplification (0.79%), SOX2 Loss (0.03%), SOX2 A191T (0.03%), SOX2 A151V (0.01%), and SOX2 A263V (0.01%) [3].

SOX2 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.