Location [1]
Protein [2]
Erythropoietin receptor
Synonyms [1]

Erythropoietin receptor (EPOR) is a gene that encodes a receptor protein that belongs to the cytokine receptor family. The receptor protein functions in the activation of JAK2 tyrosine kinase. The protein also plays a role in erythroid cell survival. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as breast cancer, endometrial cancer, and ovarian cancer.

EPOR is altered in 0.80% of all cancers with conventional glioblastoma multiforme, anaplastic oligodendroglioma, central nervous system embryonal neoplasm, glioblastoma, and poorly differentiated carcinoma, NOS having the greatest prevalence of alterations [3].

EPOR GENIE Cases - Top Diseases

The most common alterations in EPOR are EPOR A153V (0.07%), EPOR A396V (0.09%), EPOR D482N (0.09%), EPOR E425K (0.09%), and EPOR E49K (0.09%) [3].

EPOR GENIE Cases - Top Alterations

Significance of EPOR in Diseases

Acute Lymphoblastic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndromes +

B-Cell Lymphoblastic Lymphoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +

Therapy-Related Acute Myeloid Leukemia +


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.