CXCL6

Chr 4

C-X-C motif chemokine ligand 6

Also known as: CKA-3, GCP-2, GCP2, SCYB6

CXCL6 encodes a CXC chemokine that attracts neutrophils through CXCR1 and CXCR2 receptors and has antibacterial activity against gram-positive and gram-negative bacteria. The gene is not highly constrained against loss-of-function variants, and no Mendelian diseases have been definitively associated with CXCL6 mutations in current databases. This chemokine is part of a gene cluster on chromosome 4q involved in innate immune responses.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.97
Clinical SummaryCXCL6
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.97LOEUF
pLI 0.000
Z-score -2.30
OE 2.15 (1.101.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.68Z-score
OE missense 1.24 (1.031.49)
81 obs / 65.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE2.15 (1.101.97)
00.351.4
Missense OE1.24 (1.031.49)
00.61.4
Synonymous OE1.23
01.21.6
LoF obs/exp: 10 / 4.6Missense obs/exp: 81 / 65.5Syn Z: -1.03
DN
0.74top 25%
GOF
0.6248th %ile
LOF
0.2484th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

CXCL6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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