Overview

Location [1]
7q22.1
Protein [2]
Ephrin type-B receptor 4
Synonyms [1]
HTK, HFASD, TYRO11, LMPHM7, MYK1, CMAVM2

EPH receptor B4 (EPHB4) is a gene that encodes a protein that functions in mediating developmental processes in the nervous system. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

EPHB4 is altered in 3.09% of all cancers with high grade ovarian serous adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial serous adenocarcinoma having the greatest prevalence of alterations [3].

EPHB4 GENIE Cases - Top Diseases

The most common alterations in EPHB4 are EPHB4 Mutation (2.98%), EPHB4 G710R (0.25%), EPHB4 S970P (7.14%), EPHB4 T251M (0.25%), and EPHB4 T526P (0.35%) [3].

EPHB4 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.