Overview

Location [1]
2q22.1
Protein [2]
C-X-C chemokine receptor type 4
Synonyms [1]
NPYY3R, LAP-3, D2S201E, HM89, HSY3RR, FB22, LAP3, WHIMS, WHIM, LCR1, LESTR, CD184, NPYRL, NPY3R, NPYR

Chemokine (C-X-C motif) receptor 4 (CXCR4) is a gene that encodes a protein that functions as a chemokine receptor that is specific for stromal cell-derived factor 1. The protein, along with the CD4 protein, supports HIV entry into cells. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.

CXCR4 is altered in 0.71% of all cancers with prostate adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

CXCR4 GENIE Cases - Top Diseases

The most common alterations in CXCR4 are CXCR4 Mutation (0.30%), CXCR4 Loss (0.24%), CXCR4 Nonsense (0.03%), CXCR4 Frameshift (0.01%), and CXCR4 R334* (0.01%) [3].

CXCR4 GENIE Cases - Top Alterations

Significance of CXCR4 in Diseases

Waldenstrom Macroglobulinemia +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome (WHIMS) +

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.