CCL11

Chr 17AD

C-C motif chemokine ligand 11

Also known as: SCYA11

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014]

Primary Disease Associations & Inheritance

{Asthma, susceptibility to}MIM #600807

{HIV1, resistance to}MIM #609423

Active trials

Pathogenic / LP

ClinVar variants

Pubs (1 yr)

-0.4

Missense Z

1.75

LOEUF

Clinical Summary— CCL11

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

4 Pathogenic / Likely Pathogenic· 26 VUS of 35 total submissions

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Clinical Trials

11 active or recruiting trials — potential therapeutic options may be available

Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.

1.75LOEUF

pLI 0.010

Z-score 0.37

OE 0.79 (0.35–1.75)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.

-0.41Z-score

OE missense 1.16 (0.94–1.45)

59 obs / 50.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.

LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.79 (0.35–1.75)

0≤0.351.4

Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.16 (0.94–1.45)

0≤0.61.4

Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.31

0≤1.21.6

LoF obs/exp: 3 / 3.8Missense obs/exp: 59 / 50.7Syn Z: -1.10

ClinVar Variant Classifications

35 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4

VUS26

Likely Benign3

Benign2

Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	4	0	4
Likely Pathogenic	0	0	0	0
VUS	17	9	0	26
Likely Benign	0	2	1	3
Benign	2	0	0	2
Total	19	15	1	35

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CCL11 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

CHEMOKINE, CC MOTIF, LIGAND 11; CCL11

MIM #601156 · *

{Asthma, susceptibility to}

MIM #600807

Molecular basis of disorder known

Autosomal dominant

{HIV1, resistance to}

MIM #609423

Molecular basis of disorder known

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

DysferlinopathyMiyoshi MyopathyLGMDR2

Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF

ENROLLING BY INVITATION

NCT04824040Artgen BiotechStarted 2020-01-15

Autism Spectrum Disorder

Effects of Lactobacillus Plantarum PS128 in Children With ASD

RECRUITING

NCT05307744Phase NAChang Gung Memorial HospitalStarted 2022-07-15

PS128Placebo

Non-Allergic Rhinitis With Eosinophilia Syndrome

Efficacy and Safety of Stapokibart in Non-Allergic Rhinitis With Eosinophilia Syndrome

NOT YET RECRUITING

NCT07240376Phase NAHuazhong University of Science and TechnologyStarted 2025-11-25

Stapokibart (CM310)Placebo

Knee Osteoarthritis

Dietary Supplementation With Blueberry in OA

ACTIVE NOT RECRUITING

NCT05784545Phase NAUniversity of ExeterStarted 2023-05-22

Blueberry powder supplementMaltodextrin supplementation

Endometriosis

Developing a Complex ex Vivo Endometrial Tissue Model to Improve Endometriosis Care

RECRUITING

NCT06331676Phase NAHospices Civils de LyonStarted 2024-06-21

Tissue collectionData collection

Mild Cognitive ImpairmentAlzheimer's DiseaseAlzheimer's Disease, Early Onset

Development of a Database to Investigate Digital and Blood-Based Biomarkers and Their Relationship to Tau and Amyloid PET Imaging in Older Participants Who Are Cognitively Normal (CN), Have Mild Cognitive Impairment (MCI), or Have Mild-to-Moderate AD Dementia

RECRUITING

NCT06584357GAP Innovations, PBCStarted 2024-09-26

Biomarker Data CollectionMK6240

Systemic Histiocytosis (Disorder)

Biomarkers in Systemic Histiocytosis

NOT YET RECRUITING

NCT07157683Assistance Publique - Hôpitaux de ParisStarted 2025-10-01

Biospecimen collection

Prostate CancerProstate Inflammation

Characterization of Microbiological and Genetic Features in Prostate Cancer and Their Association with Disease Stage

ENROLLING BY INVITATION

NCT06505356Phase NAEdgaras BurzinskisStarted 2024-09-01