CCL20

Chr 2

C-C motif chemokine ligand 20

Also known as: CKb4, Exodus, LARC, MIP-3-alpha, MIP-3a, MIP3A, SCYA20, ST38

NCBI Gene: 6364ENSG00000115009UniProt: P78556OMIM: 601960

This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

OMIMResearchGenerating clinical summary…
3
Active trials
455
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.000
Z-score -0.31
OE 1.16 (0.58–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.59Z-score
OE missense 0.78 (0.61–1.00)
43 obs / 55.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.16 (0.58–1.88)
0≤0.351.4
Missense OE?0.78 (0.61–1.00)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 5 / 4.3Missense obs/exp: 43 / 55.3Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCL20 · protein map & ClinVar variants

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

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