IL27

Chr 16

interleukin 27

Also known as: IL-27, IL-27A, IL27A, IL27p28, IL30, p28

NCBI Gene: 246778ENSG00000197272UniProt: Q8NEV9

The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]

130
ClinVar variants
68
Pathogenic / LP
0.78
pLI score
0
Active trials
Clinical Summary— IL27
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.78) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
68 Pathogenic / Likely Pathogenic· 51 VUS of 130 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
0.51LOEUF
pLI 0.782
Z-score 2.54
OE 0.11 (0.04–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

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.
1.08Z-score
OE missense 0.75 (0.64–0.88)
112 obs / 149.3 exp
Tolerant

Mild missense constraint

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.0.11 (0.04–0.51)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.64–0.88)
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.0.79
0≤1.21.6
LoF obs/exp: 1 / 9.4Missense obs/exp: 112 / 149.3Syn Z: 1.32

ClinVar Variant Classifications

130 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic63
Likely Pathogenic5
VUS51
Likely Benign5
Benign1
63
Pathogenic
5
Likely Pathogenic
51
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
63
0
63
Likely Pathogenic
0
0
5
0
5
VUS
0
30
21
0
51
Likely Benign
0
4
1
0
5
Benign
0
1
0
0
1
Total035900125

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

View in ClinVar →

Protein Context — Lollipop Plot

IL27 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Natural Killer Cells: Development, Maturation, and Clinical Utilization.
Abel AM et al.·Front Immunol
2018Review
IL-27 elicits a cytotoxic CD8(+) T cell program to enforce tumour control.
Bréart B et al.·Nature
2025
New perspectives in cancer immunotherapy: targeting IL-6 cytokine family.
Soler MF et al.·J Immunother Cancer
2023Review
Autophagy in the physiological endometrium and cancer.
Devis-Jauregui L et al.·Autophagy
2021Review
Generation and Characterization of Mirikizumab, a Humanized Monoclonal Antibody Targeting the p19 Subunit of IL-23.
Steere B et al.·J Pharmacol Exp Ther
2023
Proteomic Profiles of Maternal Plasma Extracellular Vesicles for Prediction of Preeclampsia.
Than NG et al.·Am J Reprod Immunol
2024
IL-27 maintains cytotoxic Ly6C(+) γδ T cells that arise from immature precursors.
Wiesheu R et al.·EMBO J
2024
Interleukin-6 Family of Cytokines in Cancers.
Zaporowska-Stachowiak I et al.·J Interferon Cytokine Res
2024Review
IL-27 disturbs lipid metabolism and restrains mitochondrial activity to inhibit γδ T17 cell-mediated skin inflammation.
Zhang M et al.·Cell Death Dis
2024
Tuberculous pleural effusion: diagnosis & management.
Antonangelo L et al.·Expert Rev Respir Med
2019Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools