Location [1]
Protein [2]
Paired box protein Pax-8
Synonyms [1]

Paired box 8 (PAX8) is a gene that encodes a protein that is a transcription factor involved in thyroid follicular cell development and expression of thyroid-specific genes. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as skin cancer, colon cancer, and endometrial cancer.

PAX8 is altered in 0.12% of all cancers with high grade ovarian serous adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, head and neck squamous cell carcinoma, and uterine corpus carcinosarcoma having the greatest prevalence of alterations [3].

PAX8 GENIE Cases - Top Diseases

The most common alterations in PAX8 are PAX8-PPARG Fusion (0.01%), PAX8 R242Q (0.25%), PAX8 S193N (0.13%), PAX8 A149T (0.39%), and PAX8 A248T (0.30%) [3].

PAX8 GENIE Cases - Top Alterations

Significance of PAX8 in Diseases

Thyroid Gland Carcinoma +


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.