IL11RA (interleukin 11 receptor subunit alpha)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3590
Gene name Interleukin 11 receptor subunit alpha
Gene symbol IL11RA
Synonyms (NCBI Gene)
CRSDA
Chromosome 9
Chromosome location 9p13.3
Summary 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 hemat
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs387906784 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs387906785 C>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs387906786 C>A,G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs387906787 C>G,T Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1470928377 G>A Likely-pathogenic Missense variant, non coding transcript variant, initiator codon variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT004237 hsa-miR-346 Microarray 16822819
MIRT2437786 hsa-miR-4643 CLIP-seq
MIRT2550759 hsa-miR-3145-5p CLIP-seq
MIRT2550760 hsa-miR-323-3p CLIP-seq
MIRT2550761 hsa-miR-329 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity TAS 7670098
GO:0004896 Function Cytokine receptor activity IEA
GO:0004921 Function Interleukin-11 receptor activity IBA
GO:0004921 Function Interleukin-11 receptor activity IDA 8637716
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600939 5967 ENSG00000137070
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14626
Protein name Interleukin-11 receptor subunit alpha (IL-11 receptor subunit alpha) (IL-11R subunit alpha) (IL-11R-alpha) (IL-11RA) [Cleaved into: Soluble interleukin-11 receptor subunit alpha (sIL-11R) (sIL-11RA) (sIL11RA)]
Protein function Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentia
PDB 6O4P , 8DPS , 8DPT , 8DPU , 8QY4
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in a number of cell lines, including the myelogenous leukemia cell line K-562, the megakaryocytic leukemia cell line M-07e, the erythroleukemia cell line TF-1, and the osteosarcoma cell lines, MG-63 and SaOS-2 (PubMed:7670098
Sequence 
MSSSCSGLSRVLVAVATALVSASSPCPQAWGPPGVQYGQPGRSVKLCCPGVTAGDPVSWF
RDGEPKLLQGPDSGLGHELVLAQADSTDEGTYICQTLDGALGGTVTLQLGYPPARPVVSC
QAADYENFSCTWSPSQISGLPTRYLTSYRKKTVLGADSQRRSPSTGPWPCPQDPLGAARC
VVHGAEFWSQYRINVTEVNPLGASTRLLDVSLQSILRPDPPQGLRVESVPGYPRRLRASW
TYPASWPCQPHFLLKFRLQYRPAQHPAWSTVEPAGLEEVITDAVAGLPHAVRVSARDFLD
AGTWSTWSPEAWGTPSTGTIPKEIPAWGQLHTQPEVEPQVDSPAPPRPSLQPHPRLLDHR
DSVEQVAVLASLGILSFLGLVAGALALGLWLRLRRGGKDGSPKPGFLASVIPVDRRPGAP
NL
Sequence length 422
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Hematopoietic cell lineage 		  IL-6-type cytokine receptor ligand interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Craniosynostosis and dental anomalies Likely pathogenic; Pathogenic rs1258408605, rs2492900300, rs387906784, rs387906785, rs387906786, rs387906787, rs574224822, rs369630361 RCV001726518
RCV004594974
RCV000023047
RCV000023048
RCV000023049
RCV000023050
RCV000023051
RCV001263206
Craniosynostosis syndrome Pathogenic rs2492911303 RCV003126319
IL11RA-related disorder Likely pathogenic rs1821349181, rs1821322134 RCV003400014
RCV003911576
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma - rs199757118 RCV006027792
Hepatocellular carcinoma Benign rs201133341 RCV005931433
Melanoma Benign rs571523950 RCV005926442
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34301211
Adenoma Associate 31280266
Arthritis Psoriatic Associate 16622521
Arthritis Rheumatoid Associate 29327326
Bicuspid Aortic Valve Disease Associate 36071494
Bone Diseases Associate 28143986
Breast Neoplasms Associate 28143986
Carcinoma Hepatocellular Associate 29901200
Colonic Neoplasms Associate 16482637
Colorectal Neoplasms Associate 16482637