Overview

Location [1]
2q14.1
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 0.57% of all cancers with high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

PAX8 GENIE Cases - Top Diseases

Significance of PAX8 in Diseases

Thyroid Gland 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.