CXCL8
Chr 4C-X-C motif chemokine ligand 8
Also known as: GCP-1, GCP1, IL8, LECT, LUCT, LYNAP, MDNCF, MONAP
The CXCL8 protein (interleukin-8) is a chemokine that attracts and activates neutrophils and other immune cells to sites of infection and inflammation. Mutations in CXCL8 cause autosomal recessive severe congenital neutropenia, characterized by recurrent bacterial infections due to impaired neutrophil chemotaxis and immune dysfunction. This gene shows low constraint against loss-of-function variants (pLI 0.0003, LOEUF 1.86), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CXCL8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Metformin for People With CFRD on CFTR Modulator Therapy to Improve Ion Channel Function
RECRUITINGClinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
RECRUITINGFAPI Molecular Imaging for Diagnosis of the CMS4 Unfavorable Colorectal Cancer Subtype
NOT YET RECRUITINGFertility And Sexual Function In CAH: CALLIOPE
RECRUITINGEffect of High-intensity Interval Training on the Lung in Patients With COPD Referred for Lung Volume Reduction Surgery: The PREGENERATE Trial
ENROLLING BY INVITATIONMoving Foward With Myeloma (MFM)
NOT YET RECRUITINGEvaluation of the Efficacy of Calcium a -Ketoglutarate(AKG-Ca) in Improving Human Aging
ACTIVE NOT RECRUITINGCharacterization of Microbiological and Genetic Features in Prostate Cancer and Their Association with Disease Stage
ENROLLING BY INVITATIONDexamethasone Treatment for OSA in Children
ACTIVE NOT RECRUITINGMultimodal Prehabilitation Program That Combines Physical Exercise, Psychological Intervention and Nutritional Support to Improve the Response to Neoadjuvant Chemoterhapy in Early Breast Cancer Patients
RECRUITINGBlockade of the Renin-angiotensin-aldosterone System in Patients With ARVD
RECRUITINGRisk Stratification in Children With Concussion
RECRUITINGExternal Resources
Links to major genomics databases and tools