CCL16

Chr 17

C-C motif chemokine ligand 16

Also known as: CKb12, HCC-4, ILINCK, LCC-1, LEC, LMC, Mtn-1, NCC-4

This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008]

0
Active trials
6
Pathogenic / LP
32
ClinVar variants
4
Pubs (1 yr)
0.1
Missense Z
1.44
LOEUF
Clinical SummaryCCL16
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.32) despite low pLI — interpret in context.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 20 VUS of 32 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.44LOEUF
pLI 0.225
Z-score 1.10
OE 0.32 (0.111.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.12Z-score
OE missense 0.96 (0.781.18)
62 obs / 64.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.32 (0.111.44)
00.351.4
Missense OE0.96 (0.781.18)
00.61.4
Synonymous OE0.95
01.21.6
LoF obs/exp: 1 / 3.1Missense obs/exp: 62 / 64.8Syn Z: 0.21
DN
DN
0.74top 25%
GOF
0.4875th %ile
LOF
0.2387th %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

32 submitted variants in ClinVar

Classification Summary

Pathogenic6
VUS20
Likely Benign6
6
Pathogenic
20
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
0
0
0
VUS
0
16
4
0
20
Likely Benign
0
6
0
0
6
Benign
0
0
0
0
0
Total02210032

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

View in ClinVar →

CCL16 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence