CXCL12: C-X-C Motif Chemokine Ligand 12
A key chemokine in immune cell trafficking, hematopoiesis, and cancer metastasis
Gene Information Card
| Symbol | CXCL12 |
|---|---|
| Full Name | C-X-C Motif Chemokine Ligand 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 6387 ncbi.nlm.nih.gov/gene/6387 |
| Ensembl ID | ENSG00000107562 |
| UniProt ID | P48061 |
| OMIM ID | 600835 |
| HGNC ID | 10672 |
| Aliases | SDF1, SDF1A, SDF1B, PBSF, TPAR1 |
Description
CXCL12 (C-X-C Motif Chemokine Ligand 12), also known as stromal cell-derived factor 1 (SDF1), is a chemokine that binds to the receptors CXCR4 and CXCR7. It plays a critical role in embryonic development, hematopoiesis, immune cell trafficking, and angiogenesis. CXCL12 is constitutively expressed in many tissues and is involved in the homing of hematopoietic stem cells to the bone marrow. Dysregulation of CXCL12 signaling contributes to cancer metastasis, inflammatory diseases, and HIV infection, where it acts as a natural ligand for the HIV co-receptor CXCR4.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| WHIM syndrome | Loss-of-function mutations in CXCR4 impair CXCL12 signaling, leading to warts, hypogammaglobulinemia, infections, and myelokathexis. | OMIM #193670 |
| HIV-1 infection | CXCL12 binding to CXCR4 blocks HIV-1 entry, but viral evolution can use CXCR4 as a co-receptor. | NCBI Gene, PMID: 7536198 |
| Breast cancer metastasis | CXCL12-CXCR4 axis promotes chemotaxis and invasion of cancer cells to distant organs. | ClinVar, PMID: 11526407 |
| Multiple myeloma | CXCL12 in bone marrow microenvironment supports myeloma cell survival and drug resistance. | COSMIC, PMID: 12415266 |
| Cardiovascular disease | CXCL12 polymorphisms (rs1801157) associated with altered risk of myocardial infarction. | OMIM #600835, PMID: 12808449 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lymph node | 8.3 | Medium |
| Spleen | 7.1 | Medium |
| Lung | 5.6 | Medium |
| Liver | 3.2 | Low |
| Heart | 2.8 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 10.8 | Leukemia cell line |
| MCF7 | 6.4 | Breast cancer cell line |
| HUVEC | 9.1 | Endothelial cells |
| Jurkat | 2.3 | T-cell leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1801157 (G>A) | SNP (3'UTR) | 0.21 (global) | Alters CXCL12 expression; associated with HIV susceptibility and cardiovascular risk |
| c.3G>A | Missense (p.Met1Ile) | Rare | Loss of start codon; likely loss of function |
| c.274C>T | Missense (p.Arg92Cys) | Rare | Impaired CXCR4 binding; reported in WHIM-like phenotype |
| c.301G>A | Missense (p.Gly101Ser) | Rare | Reduced chemotactic activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce CXCL12 expression or impair receptor binding (e.g., p.Met1Ile, p.Arg92Cys) lead to defective immune cell trafficking and myelokathexis.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression in tumors enhances metastasis.
Dominant Negative (DN)
No dominant-negative mutations reported for CXCL12.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CXCR4-mediated signaling events (Reactome: R-HSA-375276)
• Chemokine signaling pathway (KEGG: hsa04062)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Hematopoietic cell lineage (KEGG: hsa04640)
• HIV life cycle (Reactome: R-HSA-162906)
Protein Summary
CXCL12 is a 93-amino acid chemokine (UniProt P48061) that exists in multiple isoforms (alpha, beta, gamma, delta, epsilon) via alternative splicing. The mature protein is secreted and forms a monomeric or dimeric structure. It binds to CXCR4 and CXCR7, activating G-protein-coupled receptor signaling, including MAPK and PI3K pathways. CXCL12 is essential for embryonic development (e.g., cardiac, neuronal, and vascular systems) and adult homeostasis, particularly in bone marrow retention and mobilization of hematopoietic stem cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CXCL12 Knockout HEK293 Cell Line | EDJ-KQ50617 | Human | 6387 | Details Get a Quote |
| CXCL12 Knockout HeLa Cell Line | EDJ-KQ54436 | Human | 6387 | Details Get a Quote |
| CXCL12 Knockout A-549 Cell Line | EDJ-KQ62925 | Human | 6387 | Details Get a Quote |
| CXCL12 Knockout HCT 116 Cell Line | EDJ-KQ71395 | Human | 6387 | Details Get a Quote |
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