IL11RA (interleukin 11 receptor subunit alpha)

Gene

• 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 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

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
MIRT2550762	hsa-miR-362-3p	CLIP-seq
MIRT2550763	hsa-miR-377	CLIP-seq
MIRT2550764	hsa-miR-3941	CLIP-seq
MIRT2550765	hsa-miR-4468	CLIP-seq
MIRT2437786	hsa-miR-4643	CLIP-seq
MIRT2550766	hsa-miR-466	CLIP-seq
MIRT2550767	hsa-miR-4672	CLIP-seq
MIRT2550768	hsa-miR-4717-3p	CLIP-seq
MIRT2550769	hsa-miR-4789-3p	CLIP-seq
MIRT2550770	hsa-miR-4802-3p	CLIP-seq
MIRT2550771	hsa-miR-502-5p	CLIP-seq
MIRT2550772	hsa-miR-603	CLIP-seq
MIRT2550773	hsa-miR-642b	CLIP-seq
MIRT2437786	hsa-miR-4643	CLIP-seq
MIRT2550759	hsa-miR-3145-5p	CLIP-seq
MIRT2550760	hsa-miR-323-3p	CLIP-seq
MIRT2682726	hsa-miR-326	CLIP-seq
MIRT2550761	hsa-miR-329	CLIP-seq
MIRT2682727	hsa-miR-330-5p	CLIP-seq
MIRT2682728	hsa-miR-342-5p	CLIP-seq
MIRT2550762	hsa-miR-362-3p	CLIP-seq
MIRT2550763	hsa-miR-377	CLIP-seq
MIRT2550764	hsa-miR-3941	CLIP-seq
MIRT2682729	hsa-miR-4257	CLIP-seq
MIRT2550765	hsa-miR-4468	CLIP-seq
MIRT2437786	hsa-miR-4643	CLIP-seq
MIRT2682730	hsa-miR-4651	CLIP-seq
MIRT2550766	hsa-miR-466	CLIP-seq
MIRT2682731	hsa-miR-4664-5p	CLIP-seq
MIRT2682732	hsa-miR-4667-5p	CLIP-seq
MIRT2550767	hsa-miR-4672	CLIP-seq
MIRT2682733	hsa-miR-4700-5p	CLIP-seq
MIRT2550768	hsa-miR-4717-3p	CLIP-seq
MIRT2550769	hsa-miR-4789-3p	CLIP-seq
MIRT2550770	hsa-miR-4802-3p	CLIP-seq
MIRT2550771	hsa-miR-502-5p	CLIP-seq
MIRT2550772	hsa-miR-603	CLIP-seq
MIRT2682734	hsa-miR-608	CLIP-seq
MIRT2682735	hsa-miR-637	CLIP-seq
MIRT2550773	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

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
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IC	8637716
GO:0005886	Component	Plasma membrane	TAS	7670098
GO:0007566	Process	Embryo implantation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019970	Function	Interleukin-11 binding	IBA
GO:0030154	Process	Cell differentiation	IDA	28781374
GO:0032502	Process	Developmental process	IMP	21741611
GO:0038154	Process	Interleukin-11-mediated signaling pathway	IDA	8272872, 8637716, 28781374
GO:0038154	Process	Interleukin-11-mediated signaling pathway	IDA	8637716
GO:0043235	Component	Receptor complex	IBA
GO:0060322	Process	Head development	IMP	21741611

Other IDs

• MIM: 600939
• HGNC: 5967
• e!Ensembl: ENSG00000137070

Protein

• UniProt ID: 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
• 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

Pathways

KEGG:

Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Hematopoietic cell lineage

Reactome:

IL-6-type cytokine receptor ligand interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Craniosynostosis and dental anomalies	Likely pathogenic; Pathogenic	rs1258408605, rs2492900300, rs387906784, rs387906785, rs387906786, rs387906787, rs574224822, rs369630361	RCV001726518 RCV004594974 RCV000023047 RCV000023048 RCV000023049 RCV000023050 RCV000023051 RCV001263206	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis syndrome	Pathogenic	rs2492911303	RCV003126319	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IL11RA-related disorder	Likely pathogenic	rs1821349181, rs1821322134	RCV003400014 RCV003911576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Colon adenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS-DENTAL ANOMALIES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	16964382		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16622521	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29327326	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16291580		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28143986	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	25524575		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28143986	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17712417		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29901200	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11699207		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16482637	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16482637	Associate	★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial dysostosis	Pubtator	35331937	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	27884935, 35331937, 37596289, 37994264, 38329021	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29926465, 30811827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	Craniosynostosis And Dental Anomalies	ORPHANET_DG	21741611		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	Craniosynostosis And Dental Anomalies	GENOMICS_ENGLAND_DG	21741611, 24498618		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	Craniosynostosis And Dental Anomalies	UNIPROT_DG	21741611		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	Craniosynostosis And Dental Anomalies	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	Craniosynostosis And Dental Anomalies	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis-dental anomalies	Craniosynostosis And Dental Anomalies	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26846819		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20008143	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36834778	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	22992748		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	16291580		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	16482637	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29901200		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	16291580	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26846819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	11161848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14744752, 17712417		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11161848, 18941632, 28707573		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16614887		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37240247	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	LHGDN	15512823		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17712417, 21982075, 22992748, 24924180, 25524575, 28698375		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23144859	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24924180, 25524575, 28321811, 28698375		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	11161848		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21982075		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	31403827		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	31403827		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14744752, 17712417		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14744752		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17712417	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31554736		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29327326		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31078624		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27920471	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40755754	Associate	★☆☆☆☆ Found in Text Mining only