CXCL12
Chr 10C-X-C motif chemokine ligand 12
Also known as: IRH, PBSF, SCYB12, SDF1, TLSF, TPAR1
This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CXCL12 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Black Forest Cocoa Flavanol Supplementation and Health Trial
NOT YET RECRUITINGA-TANGO Phase 2 Study
NOT YET RECRUITINGThree Fraction Radiation to Induce Immuno-Oncologic Response
ACTIVE NOT RECRUITINGBiomoleculars Markers of Sensitivity to Pre- and Post-operative Chemotherapy of Gastric and Cardia Adenocarcinomas: a Pilot Study
RECRUITINGMyeloid Bias in the Bone Marrow of Septic Patients and Its Correlation With Disease Severity and Prognosis: A Single-Center, Prospective Cohort Study
NOT YET RECRUITINGNew Preclinical and Clinical Approaches to Mesothelioma
RECRUITINGRole of Finerenone in African American Veterans With Diabetic Kidney Disease
NOT YET RECRUITINGPrognostic Value of Circulating Tumoral DNA After the First 6 Months of Treatment in Patients With Waldenström Macroglobulinemia
RECRUITINGExternal Resources
Links to major genomics databases and tools