IL11RA Gene - Interleukin 11 Receptor Subunit Alpha
Comprehensive genomic and functional analysis of IL11RA, a key receptor in IL-11 signaling, associated with craniosynostosis and inflammatory diseases.
Gene Information Card
| Symbol | IL11RA |
|---|---|
| Full Name | Interleukin 11 Receptor Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 3590 ncbi.nlm.nih.gov/gene/3590 |
| Ensembl ID | ENSG00000137070 |
| UniProt ID | Q14626 |
| OMIM ID | 600939 |
| HGNC ID | 5967 |
| Aliases | IL-11RA, IL11R, CRS1 |
Description
The IL11RA gene encodes the interleukin 11 receptor subunit alpha, a type I cytokine receptor that forms a high-affinity receptor complex with glycoprotein 130 (GP130) upon binding interleukin 11 (IL-11). This receptor is critical for IL-11-mediated signaling, which regulates bone development, hematopoiesis, and inflammatory responses. Mutations in IL11RA are associated with autosomal recessive craniosynostosis type 1 (CRS1), characterized by premature fusion of cranial sutures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniosynostosis type 1 (CRS1) | Loss-of-function mutations in IL11RA impair IL-11 signaling, disrupting osteoblast differentiation and cranial suture development. | OMIM #600939; PMID: 21882294 |
| Inflammatory bowel disease (IBD) | IL-11 signaling via IL11RA/GP130 promotes mucosal healing; dysregulation may contribute to chronic inflammation. | PMID: 28628107 |
| Rheumatoid arthritis | IL-11RA mediates IL-11 effects on synovial fibroblasts and osteoclasts, influencing joint inflammation and bone erosion. | PMID: 21575864 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 6.7 | Low |
| Kidney | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoblasts | 15.2 | High expression in bone-forming cells |
| Fibroblasts | 9.8 | Moderate expression in connective tissue |
| Monocytes | 7.5 | Detectable in immune cells |
| Hepatocytes | 2.1 | Low expression in liver |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.754C>T (p.Arg252*) | Nonsense | Rare | Loss of function; truncation of receptor |
| c.1018G>A (p.Gly340Arg) | Missense | Rare | Impaired ligand binding |
| c.1240_1241del (p.Leu414fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Most IL11RA mutations in craniosynostosis are loss-of-function, leading to reduced or absent receptor activity and disrupted IL-11 signaling.
Gain of Function (GOF)
No gain-of-function mutations are currently reported in IL11RA.
Dominant Negative (DN)
No dominant-negative mutations are currently reported in IL11RA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Interleukin-11 signaling pathway (Reactome: R-HSA-447115)
• GP130-mediated signaling (Reactome: R-HSA-6783783)
• JAK-STAT signaling pathway (KEGG: hsa04630)
Protein Summary
The IL11RA protein (UniProt Q14626) is a 422-amino acid transmembrane receptor with an extracellular domain containing fibronectin type III repeats and a WSXWS motif characteristic of class I cytokine receptors. It binds IL-11 with high affinity and recruits GP130 to activate JAK/STAT and MAPK signaling pathways. The receptor is essential for IL-11-mediated effects on osteoblast differentiation, bone formation, and tissue regeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL11RA Knockout HEK293 Cell Line | EDJ-KQ50391 | Human | 3590 | Details Get a Quote |
| IL11RA Knockout HeLa Cell Line | EDJ-KQ53646 | Human | 3590 | Details Get a Quote |
| IL11RA Knockout A-549 Cell Line | EDJ-KQ62122 | Human | 3590 | Details Get a Quote |
| IL11RA Knockout HCT 116 Cell Line | EDJ-KQ70611 | Human | 3590 | Details Get a Quote |
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