CXCL11

Chr 4

C-X-C motif chemokine ligand 11

Also known as: H174, I-TAC, IP-9, IP9, SCYB11, SCYB9B, b-R1

The protein encoded by this gene is a chemokine that recruits activated T-cells through binding to the CXCR3 receptor and plays a role in central nervous system immune responses. Currently, no Mendelian diseases have been definitively associated with mutations in CXCL11 in pediatric populations. The gene shows tolerance to loss-of-function variants (pLI 0.31, LOEUF 1.14), suggesting haploinsufficiency is unlikely to cause severe developmental phenotypes.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.14
Clinical SummaryCXCL11
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.14LOEUF
pLI 0.314
Z-score 1.43
OE 0.24 (0.091.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.32Z-score
OE missense 0.87 (0.691.12)
45 obs / 51.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.24 (0.091.14)
00.351.4
Missense OE0.87 (0.691.12)
00.61.4
Synonymous OE1.03
01.21.6
LoF obs/exp: 1 / 4.1Missense obs/exp: 45 / 51.5Syn Z: -0.10
DN
0.7230th %ile
GOF
0.4282th %ile
LOF
0.2581th %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

CXCL11 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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