Overview

Location [1]
12p13.33
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Lysine-specific demethylase 5A
Synonyms [1]
RBP2, RBBP-2, RBBP2

Lysine (K)-specific demethylase 5A (KDM5A) is a gene that encodes a protein that functions in gene regulation by demethylating lysine residues on histone H3. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

KDM5A is altered in 0.96% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, testicular mixed germ cell tumor, lung adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

KDM5A GENIE Cases - Top Diseases

The most common alterations in KDM5A are KDM5A Amplification (0.78%) and KDM5A Loss (0.04%) [3].

KDM5A GENIE Cases - Top Alterations

Significance of KDM5A in Diseases

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia +

Acute Undifferentiated Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Non-Hodgkin Lymphoma +

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.