|A service of the U.S. National Library of Medicine®|
On this page:
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?
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?
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.
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?
See How are genetic conditions and genes named? in the Handbook.
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?
bacteria ; bone marrow ; cancer ; cell ; cell membrane ; central nervous system ; differentiation ; domain ; gene ; germline ; hematopoietic ; infection ; inherited ; leukocyte ; ligand ; LPS ; motif ; mutation ; nervous system ; proliferation ; protein ; receptor ; somatic mutation ; stem cells ; syndrome ; transmembrane ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
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.