HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CXCR4
C-X-C motif chemokine receptor 4
Chromosome 2 · 2q22.1
NCBI Gene: 7852Ensembl: ENSG00000121966.8HGNC: HGNC:2561UniProt: A0A0U3FJG0
2,177PubMed Papers
21Diseases
8Drugs
40Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell chemotaxiscellular response to cytokine stimulusG protein-coupled receptor signaling pathwayadenylate cyclase-inhibiting G protein-coupled receptor signaling pathwayWHIM syndromeWHIM syndrome 1multiple myelomaHIV infection
✦AI Summary

CXCR4 is a G protein-coupled chemokine receptor that functions as a critical mediator of cell migration, hematopoiesis, and tissue homeostasis through binding its primary ligand CXCL12 1. The receptor orchestrates multiple signaling pathways controlling cell migration, homing to the bone marrow, and cell proliferation of both hematopoietic and non-hematopoietic cells 1. CXCR4 plays significant roles in tissue regeneration and stem cell activation, though these regenerative mechanisms overlap with pathways exploited in cancer development 1. In pathological contexts, CXCR4 is implicated in fibrosis across multiple organs (heart, liver, lung, kidney) through mechanisms involving inflammation, epithelial-mesenchymal transition, and angiogenesis 2. CXCR4 serves as an HIV-1 coreceptor alongside CD4, enabling viral entry and infection 3. Clinically, CXCR4 mutations are associated with Waldenström macroglobulinemia and glioblastoma, where CXCR4 maintains cancer stem cell phenotypes and promotes therapeutic resistance 4, 5. CXCR4 antagonists represent emerging therapeutic strategies: mavorixafor was approved in 2024 for WHIM syndrome to increase circulating neutrophils and lymphocytes 6, while [68Ga]Ga-PentixaFor shows promise as a diagnostic PET imaging agent for hematologic malignancies and inflammatory diseases 7.

Sources cited
1
CXCR4 triggers signaling pathways controlling cell migration, hematopoiesis, homing, retention in bone marrow, and cell proliferation; plays pivotal role in tissue regeneration and stem cell activation
PMID: 32983169
2
CXCR4 is the predominant chemokine receptor on fibrocytes; CXCL12/CXCR4 involved in fibrosis pathology including inflammation, immunity, epithelial-mesenchymal transition, and angiogenesis in heart, liver, lung, and kidney
PMID: 36442720
3
HIV-1 enters host cells via CD4 as primary receptor and CXCR4 as coreceptor
PMID: 33624027
4
CXCR4 WHIM mutations are common in Waldenström macroglobulinemia and support growth and survival of WM cells
PMID: 25212891
5
CXCR4 expression is maintained in glioblastoma; associated with epithelial mesenchymal transition and cancer stem cell generation, self-renewal, and maintenance; involved in therapeutic resistance
PMID: 26299663
6
Mavorixafor, a CXCR4 antagonist, approved in April 2024 for WHIM syndrome to increase circulating mature neutrophils and lymphocytes in patients aged ≥12 years
PMID: 39004659
7
[68Ga]Ga-PentixaFor PET agent targeting CXCR4 shows promising applications in multiple myeloma, lymphomas, myeloproliferative neoplasms, and inflammatory conditions
PMID: 37923671
8
FAM189A2 facilitates ITCH-mediated ubiquitination of CXCR4 to desensitize CXCR4 activity and suppress CXCL12-induced endocytosis
PMID: 34927784
Disease Associationsⓘ21
WHIM syndromeOpen Targets
0.80Strong
WHIM syndrome 1Open Targets
0.75Strong
multiple myelomaOpen Targets
0.66Moderate
HIV infectionOpen Targets
0.58Moderate
non-Hodgkins lymphomaOpen Targets
0.54Moderate
neoplasmOpen Targets
0.54Moderate
lymphomaOpen Targets
0.52Moderate
severe congenital neutropeniaOpen Targets
0.46Moderate
skin neoplasmOpen Targets
0.42Moderate
acute lymphoblastic leukemiaOpen Targets
0.41Moderate
B-cell non-Hodgkins lymphomaOpen Targets
0.38Weak
lymphoid neoplasmOpen Targets
0.38Weak
Hodgkins lymphomaOpen Targets
0.38Weak
lymphoplasmacytic lymphomaOpen Targets
0.37Weak
benign monoclonal gammopathyOpen Targets
0.37Weak
immunodeficiency diseaseOpen Targets
0.34Weak
skin cancerOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.34Weak
multiple sclerosisOpen Targets
0.34Weak
actinic keratosisOpen Targets
0.33Weak
WHIM syndrome 1UniProt
Pathogenic Variants40
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)Pathogenic
Warts, hypogammaglobulinemia, infections, and myelokathexis|not provided|WHIM syndrome 1
★★☆☆2026→ Residue 334
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)Pathogenic
Warts, hypogammaglobulinemia, infections, and myelokathexis|WHIM syndrome 1|not provided
★★☆☆2025→ Residue 339
NM_003467.3(CXCR4):c.1012_1015dup (p.Ser339fs)Pathogenic
not provided|Warts, hypogammaglobulinemia, infections, and myelokathexis|WHIM syndrome 1
★★☆☆2025→ Residue 339
NM_003467.3(CXCR4):c.952dup (p.Thr318fs)Pathogenic
not provided|Warts, hypogammaglobulinemia, infections, and myelokathexis|Neoplasm
★★☆☆2024→ Residue 318
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)Pathogenic
Warts, hypogammaglobulinemia, infections, and myelokathexis|not provided|WHIM syndrome 1
★★☆☆2021→ Residue 338
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)Pathogenic
Inherited Immunodeficiency Diseases|WHIM syndrome 1
★★☆☆2021→ Residue 317
NM_003467.3(CXCR4):c.1012del (p.Ser338fs)Likely pathogenic
Warts, hypogammaglobulinemia, infections, and myelokathexis|Neoplasm
★☆☆☆2026→ Residue 338
NM_003467.3(CXCR4):c.1009del (p.His337fs)Likely pathogenic
Warts, hypogammaglobulinemia, infections, and myelokathexis
★☆☆☆2025→ Residue 337
NM_003467.3(CXCR4):c.990_991del (p.Lys331fs)Likely pathogenic
Warts, hypogammaglobulinemia, infections, and myelokathexis
★☆☆☆2025→ Residue 331
NM_003467.3(CXCR4):c.977_978del (p.Leu326fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 326
NM_003467.3(CXCR4):c.1032dup (p.Glu345Ter)Likely pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 345
NM_003467.3(CXCR4):c.997A>T (p.Lys333Ter)Likely pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 333
NM_003467.3(CXCR4):c.1032_1033del (p.Glu345fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 345
NM_003467.3(CXCR4):c.976dup (p.Leu326fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 326
NM_003467.3(CXCR4):c.970del (p.Ser324fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 324
NM_003467.3(CXCR4):c.970_971insTCCT (p.Ser324fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 324
NM_003467.3(CXCR4):c.969del (p.Ser324fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 324
NM_003467.3(CXCR4):c.966_967del (p.Gly323fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 323
NM_003467.3(CXCR4):c.954del (p.Ser319fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 319
NM_003467.3(CXCR4):c.951del (p.Thr318fs)Pathogenic
WHIM syndrome 1
★☆☆☆2025→ Residue 318
View on ClinVar ↗
Drug Targets8
BALIXAFORTIDEPhase III
C-X-C chemokine receptor type 4 antagonist
BURIXAFORPhase II
C-X-C chemokine receptor type 4 antagonist
macular degeneration
CTCE-9908Phase I/II
C-X-C chemokine receptor type 4 antagonist
sarcoma
MAVORIXAFORApproved
C-X-C chemokine receptor type 4 antagonist
neoplasm
MOTIXAFORTIDEApproved
C-X-C chemokine receptor type 4 antagonist
multiple myeloma
MSX-122Phase I
C-X-C chemokine receptor type 4 antagonist
PLERIXAFORApproved
C-X-C chemokine receptor type 4 partial agonist
multiple myeloma
ULOCUPLUMABPhase III
C-X-C chemokine receptor type 4 inhibitor
multiple myeloma
Related Genes
CXCR5Protein interaction100%CD4Protein interaction100%CD34Protein interaction100%DPP4Protein interaction100%ENPEPProtein interaction100%ITIH4Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
7%
Brain
3%
Heart
1%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
CXCR4CXCR5CD4CD34DPP4ENPEPITIH4
PROTEIN STRUCTURE
Preparing viewer…
PDB3ODU · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.26 [0.14–0.51]
RankingsWhere CXCR4 stands among ~20K protein-coding genes
  • #51of 20,598
    Most Researched2,177 · top 1%
  • #436of 1,025
    FDA-Approved Drug Targets3
  • #1,529of 5,498
    Most Pathogenic Variants40
  • #3,141of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedCXCR4
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
CXCL12/CXCR4: An amazing challenge and opportunity in the fight against fibrosis.
PMID: 36442720
Ageing Res Rev · 2023
1.00
2
The Chemokine Receptor CXCR4 in Cell Proliferation and Tissue Regeneration.
PMID: 32983169
Front Immunol · 2020
0.90
3
Development of novel CXCR4-based therapeutics.
PMID: 22283809
Expert Opin Investig Drugs · 2012
0.86
4
CXCR4 silencing inhibits invasion and migration of human laryngeal cancer Hep-2 cells.
PMID: 26261502
Int J Clin Exp Pathol · 2015
0.82
5
Advances in PET Imaging of the CXCR4 Receptor: [
PMID: 37923671
Semin Nucl Med · 2024
0.80