IL11RA

Chr 9AR

interleukin 11 receptor subunit alpha

Also known as: CRSDA

NCBI Gene: 3590ENSG00000137070UniProt: Q14626

Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

Primary Disease Associations & Inheritance

Craniosynostosis and dental anomaliesMIM #614188
AR
211
ClinVar variants
94
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— IL11RA
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
94 Pathogenic / Likely Pathogenic· 36 VUS of 211 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.54LOEUF
pLI 0.000
Z-score -0.61
OE 1.13 (0.84–1.54)
Tolerant

Highly tolerant — LoF variants common in population

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.
0.64Z-score
OE missense 0.88 (0.79–0.99)
209 obs / 236.6 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.1.13 (0.84–1.54)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.79–0.99)
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.0.98
0≤1.21.6
LoF obs/exp: 29 / 25.7Missense obs/exp: 209 / 236.6Syn Z: 0.12

ClinVar Variant Classifications

211 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic77
Likely Pathogenic17
VUS36
Likely Benign36
Benign24
Conflicting5
77
Pathogenic
17
Likely Pathogenic
36
VUS
36
Likely Benign
24
Benign
5
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
3
71
0
77
Likely Pathogenic
4
4
8
1
17
VUS
2
21
13
0
36
Likely Benign
0
3
14
19
36
Benign
0
3
18
3
24
Conflicting
—5
Total93412423195

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

View in ClinVar →

Protein Context — Lollipop Plot

IL11RA · protein map & ClinVar variants

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

Gene2Phenotype Curations

IL11RA-related craniosynostosis

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Craniosynostosis and dental anomalies

MIM #614188

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Interleukin-11 drives human and mouse alcohol-related liver disease.
Effenberger M et al.·Gut
2023Functional
Urinary proteomics identifies distinct immunological profiles of sepsis associated AKI sub-phenotypes.
Stanaway IB et al.·Crit Care
2024
Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.
Liu Z et al.·Mol Genet Genomic Med
2025Cohort
Enhancing antitumor immunity and achieving tumor eradication with IL11RA mRNA immunotherapy.
Ur Rehman A et al.·Int Immunopharmacol
2024
IL-11 regulates autoimmune demyelination.
Gurfein BT et al.·J Immunol
2009
Amentoflavone as a dual-target inhibitor of IL11 signaling alleviates intervertebral disc fibrosis.
Chen R et al.·Int Immunopharmacol
2025
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I et al.·Sci Rep
2023
The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.
Topa A et al.·Eur J Med Genet
2022Cohort
Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.
Nishimura N et al.·Congenit Anom (Kyoto)
2020Case report
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.
Korakavi N et al.·Am J Med Genet A
2019Case report
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