IL17C

Chr 16

interleukin 17C

Also known as: CX2, IL-17C

NCBI Gene: 27189 ENSG00000124391 UniProt: Q9P0M4 OMIM: 604628

IL17C encodes a cytokine that stimulates production of antibacterial peptides and pro-inflammatory molecules for epithelial innate immunity, particularly against intestinal bacterial pathogens, through NF-kappa-B and MAPK signaling pathways. The gene shows low constraint to loss-of-function variation (pLI = 0.0001, LOEUF = 1.73), and no established Mendelian diseases have been definitively linked to IL17C mutations in current medical literature. Based on available data, clear genotype-phenotype correlations for this gene in pediatric neurogenetic disorders have not been established.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.73

Clinical Summary— IL17C

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

42 VUS of 50 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.73LOEUF

pLI 0.000

Z-score 0.13

OE 0.94 (0.51–1.73)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.81Z-score

OE missense 1.20 (1.05–1.37)

156 obs / 130.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.94 (0.51–1.73)

0≤0.351.4

Missense OE?1.20 (1.05–1.37)

0≤0.61.4

Synonymous OE?1.29

0≤1.21.6

LoF obs/exp: 6 / 6.4Missense obs/exp: 156 / 130.0Syn Z: -1.79

ClinVar Variant Classifications

50 submitted variants in ClinVar

ClinVar

Classification Summary

VUS42

Likely Benign4

Benign2

Conflicting1

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	0	42	0	0	42
Likely Benign	0	2	1	1	4
Benign	0	1	0	1	2
Conflicting	—				1
Total	0	45	1	2	49

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

View in ClinVar →

63 pathogenic / likely-pathogenic (of 87) ClinVar copy-number / structural variants overlap IL17C — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →