IL17D

Chr 13

interleukin 17D

Also known as: IL-17D

The protein is a cytokine that induces expression of IL6, IL8, and GM-CSF from endothelial cells. Mutations cause autosomal recessive combined immunodeficiency with susceptibility to viral infections and hypogammaglobulinemia. The gene is not highly constrained against loss-of-function variation, which is consistent with the recessive inheritance pattern observed in affected individuals.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.54
Clinical SummaryIL17D
Population Constraint (gnomAD)
Low constraint (pLI 0.20) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.54LOEUF
pLI 0.198
Z-score 0.98
OE 0.36 (0.131.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.26Z-score
OE missense 1.09 (0.911.31)
80 obs / 73.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.36 (0.131.54)
00.351.4
Missense OE1.09 (0.911.31)
00.61.4
Synonymous OE1.12
01.21.6
LoF obs/exp: 1 / 2.7Missense obs/exp: 80 / 73.7Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IL17D · 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
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC