CXCL5
Chr 4C-X-C motif chemokine ligand 5
Also known as: ENA-78, SCYB5
Encodes epithelial neutrophil-activating peptide 78 (ENA-78), a chemokine that recruits and activates neutrophils through binding to CXCR2 receptor and promotes angiogenesis and tissue remodeling. No pediatric neurologic diseases have been associated with mutations in this gene based on the available data. This gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.9), indicating tolerance to protein-truncating mutations.
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
CXCL5 · 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
External Resources
Links to major genomics databases and tools