CXCR4 (C-X-C chemokine receptor type 4) variants and mutations

CXCR4 (also known as C-X-C chemokine receptor type 4) is a human protein-coding gene encoding a c-X-C chemokine receptor type 4 protein. It directs cell migration toward CXCL12 and is crucial for hematopoietic-cell homing, immune trafficking, and development. Gain-of-function variants that impair receptor desensitization cause WHIM syndrome, while tumor cells can exploit the pathway for survival and metastasis. This analysis covers 968 CXCR4 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes WHIM syndrome, WHIM syndrome 1, and plasma cell myeloma. Example CXCR4 variants include M1?, E2*, and E2G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CXCR4 variants

Examples include M1?, E2*, E2G, E2K, E2A, G3E, G3R, G3W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.