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Reviewed March 2015

What is the official name of the CXCR4 gene?

The official name of this gene is “chemokine (C-X-C motif) receptor 4.”

CXCR4 is the gene's official symbol. The CXCR4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CXCR4 gene?

The CXCR4 gene provides instructions for making a receptor protein that spans the outer membrane of cells, specifically white blood cells and cells in the brain and spinal cord (central nervous system). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. After attachment of its ligand, called SDF-1, the CXCR4 protein turns on (activates) signaling pathways inside the cell. These pathways help regulate cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell survival. Once signaling is stimulated, the CXCR4 protein is removed from the cell membrane (internalized) and broken down so it can no longer activate the signaling pathways.

The CXCR4 receptor is also involved in the movement (migration) of cells. Cells that have the CXCR4 protein in their membrane are attracted to SDF-1. High levels of this ligand are found in the bone marrow, which helps certain blood cells migrate to and stay in the bone marrow until they are needed elsewhere in the body. Retention of early blood cells known as hematopoietic stem cells in the bone marrow is important to ensure that stem cells are available when needed. White blood cells also remain in the bone marrow until they are needed in the body to fight infection.

Does the CXCR4 gene share characteristics with other genes?

The CXCR4 gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called GPCR (G protein-coupled receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the CXCR4 gene related to health conditions?

Waldenström macroglobulinemia - associated with the CXCR4 gene

Mutations in the CXCR4 gene are found in approximately 30 percent of people with Waldenström macroglobulinemia. This rare form of blood cancer is characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow and overproduction of a protein called IgM. These mutations are acquired during a person's lifetime and are present only in the abnormal white blood cells. This type of genetic change, called a somatic mutation, is not inherited. Waldenström macroglobulinemia is thought to result from multiple genetic changes, one of which can be a CXCR4 gene mutation.

CXCR4 gene mutations involved in Waldenström macroglobulinemia lead to production of an abnormally short CXCR4 protein that cannot be internalized, prolonging signaling activated by the protein. This signaling leads to enhanced survival and proliferation of cells containing the abnormal protein, which may contribute to the abundance of lymphoplasmacytic cells characteristic of Waldenström macroglobulinemia.

other disorders - caused by mutations in the CXCR4 gene

At least nine mutations in the CXCR4 gene have been found to cause WHIM syndrome, a condition characterized by impaired immune function and recurrent bacterial and viral infections. Several of the mutations that cause WHIM syndrome are also found in individuals with Waldenström macroglobulinemia (described above). However, in WHIM syndrome, the mutations are typically inherited and are found in every cell of the body (known as germline mutations).

As in Waldenström macroglobulinemia, the CXCR4 gene mutations that cause WHIM syndrome impair internalization of the CXCR4 protein. Researchers suggest that white blood cells that have the CXCR4 protein in their membrane longer than usual are abnormally retained in the bone marrow (a condition known as myelokathexis). A lack of these immune cells circulating through the body likely impairs the body's immune reaction to bacteria and viruses, leading to the recurrent infections common in WHIM syndrome.

Where is the CXCR4 gene located?

Cytogenetic Location: 2q21

Molecular Location on chromosome 2: base pairs 136,114,348 to 136,118,154

The CXCR4 gene is located on the long (q) arm of chromosome 2 at position 21.

The CXCR4 gene is located on the long (q) arm of chromosome 2 at position 21.

More precisely, the CXCR4 gene is located from base pair 136,114,348 to base pair 136,118,154 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CXCR4?

You and your healthcare professional may find the following resources about CXCR4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CXCR4 gene or gene products?

  • CD184
  • CD184 antigen
  • C-X-C chemokine receptor type 4
  • D2S201E
  • FB22
  • fusin
  • HM89
  • HSY3RR
  • LAP3
  • LAP-3
  • LCR1
  • leukocyte-derived seven transmembrane domain receptor
  • lipopolysaccharide-associated protein 3
  • LPS-associated protein 3
  • neuropeptide Y receptor Y3
  • NPY3R
  • NPYR
  • NPYY3R
  • SDF-1 receptor
  • seven transmembrane helix receptor
  • seven-transmembrane-segment receptor, spleen
  • stromal cell-derived factor 1 receptor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CXCR4?

References (7 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: March 2015
Published: September 28, 2015