IL11RA

Chr 9

interleukin 11 receptor subunit alpha

Also known as: CRSDA

NCBI Gene: 3590 ENSG00000137070 UniProt: Q14626

The IL11RA protein functions as a receptor for interleukin-11 and is essential for normal development of craniofacial bones and teeth, where it restricts suture fusion and controls tooth number. Biallelic mutations cause autosomal recessive craniosynostosis and dental anomalies. The gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCraniosynostosis and dental anomalies

Clinical highlights

Gene-disease validity (ClinGen)

craniosynostosis and dental anomalies · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.54

LOEUF

LOF

Mechanism· G2P

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