Overview

Location [1]
9p24.1
Protein [2]
Lysine-specific demethylase 4C
Synonyms [1]
TDRD14C, JHDM3C, JMJD2C, GASC1

Lysine (K)-specific demethylase 4C (KDM4C) is a gene that encodes a protein that belongs to the Jumonji domain 2 family. The protein functions in the conversion of specific trimethylated histone residues to dimethylated histone residues - a process that regulates gene expression and chromosome regulation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

KDM4C is altered in 0.16% of all cancers with colon adenocarcinoma, lung adenocarcinoma, anaplastic astrocytoma, anaplastic meningioma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

KDM4C GENIE Cases - Top Diseases

The most common alterations in KDM4C are KDM4C D260V (0.08%), KDM4C D982V (0.08%), KDM4C E528K (0.08%), KDM4C E604Q (0.08%), and KDM4C E909* (0.08%) [3].

KDM4C GENIE Cases - Top Alterations

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 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.