IL11RA Chromosome 9
Interleukin 11 receptor subunit alpha
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What This Gene Does
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]
Gene Info
Gene Group
"Immunoglobulin like domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000137070
Associated Conditions (3)
Craniosynostosis syndrome
Craniosynostosis and dental anomalies
IL11RA-related disorder
Key Variants
RS143377309
Conflicting classifications of pathogenicity
Health Risk
RS200580340
Conflicting classifications of pathogenicity
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS201638429
Conflicting classifications of pathogenicity
Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
Health Risk
RS201997285
Conflicting classifications of pathogenicity
Health Risk
RS1258408605
Likely pathogenic
Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
Health Risk
RS1470928377
Likely pathogenic
Health Risk
RS1821322134
Likely pathogenic
IL11RA-related disorder, IL11RA-related disorder
Health Risk
RS1821349181
Likely pathogenic
IL11RA-related disorder, IL11RA-related disorder
Health Risk
RS369630361
Likely pathogenic
Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
Health Risk
RS387906785
Likely pathogenic
Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
Health Risk
RS200169943
Pathogenic
Health Risk
RS2492900300
Pathogenic
Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143377309 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200580340 | Health Risk | Conflicting classifications of pathogenicity | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS201638429 | Health Risk | Conflicting classifications of pathogenicity | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS201997285 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1258408605 | Health Risk | Likely pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS1470928377 | Health Risk | Likely pathogenic | — |
| RS1821322134 | Health Risk | Likely pathogenic | IL11RA-related disorder, IL11RA-related disorder |
| RS1821349181 | Health Risk | Likely pathogenic | IL11RA-related disorder, IL11RA-related disorder |
| RS369630361 | Health Risk | Likely pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS387906785 | Health Risk | Likely pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS200169943 | Health Risk | Pathogenic | — |
| RS2492900300 | Health Risk | Pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS2492911303 | Health Risk | Pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS387906784 | Health Risk | Pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS387906786 | Health Risk | Pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS387906787 | Health Risk | Pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS574224822 | Health Risk | Pathogenic | Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies |
| RS775348905 | Health Risk | Pathogenic | — |
| RS747505958 | Health Risk | Pathogenic/Likely pathogenic | — |