Overview

Location [1]
17q24.3
Protein [2]
Transcription factor SOX-9
Synonyms [1]
SRXX2, CMPD1, SRXY10, CMD1, SRA1

SRY (sex determining region Y)-box 9 (SOX9) is a gene that encodes a protein that recognizes the CCTTGAG sequence on DNA. The protein regulates transcription of the anti-Muellerian hormone (AMH) gene. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, meningeal cancer, and stomach cancer.

SOX9 is altered in 2.20% of all cancers with colon adenocarcinoma, breast invasive ductal carcinoma, lung adenocarcinoma, rectal adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

SOX9 GENIE Cases - Top Diseases

The most common alterations in SOX9 are SOX9 Mutation (2.07%), SOX9 Amplification (0.41%), SOX9 Loss (0.03%), SOX9 P346Rfs*37 (0.03%), and SOX9 S23Afs*38 (0.03%) [3].

SOX9 GENIE Cases - Top Alterations

Significance of SOX9 in Diseases

Colorectal Carcinoma +

Bladder Carcinoma +

Malignant Solid Tumor +

Melanoma +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Glioblastoma +

Pancreatic Carcinoma +

Sarcoma +

Lymphoma +

Ovarian Carcinoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

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 6. 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.