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 contai... See more...

Aliases for IL11RA Gene

Aliases for IL11RA Gene

  • Interleukin 11 Receptor Subunit Alpha 2 3 5
  • Interleukin-11 Receptor Subunit Alpha 3 4
  • Interleukin 11 Receptor, Alpha 2 3
  • IL-11 Receptor Subunit Alpha 3 4
  • IL-11R Subunit Alpha 3 4
  • Interleukin-11 Receptor Alpha Chain 3
  • IL-11R-Alpha 4
  • IL-11RA 4
  • IL11RA 5
  • CRSDA 3

External Ids for IL11RA Gene

Previous GeneCards Identifiers for IL11RA Gene

  • GC09P034966
  • GC09P034820
  • GC09P034640
  • GC09P034643

Summaries for IL11RA Gene

Entrez Gene Summary for IL11RA Gene

  • 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]

GeneCards Summary for IL11RA Gene

IL11RA (Interleukin 11 Receptor Subunit Alpha) is a Protein Coding gene. Diseases associated with IL11RA include Craniosynostosis And Dental Anomalies and Craniosynostosis. Among its related pathways are Interleukin-6 family signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and cytokine receptor activity. An important paralog of this gene is ENSG00000258728.

UniProtKB/Swiss-Prot Summary for IL11RA Gene

  • 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 differentiation of skeletogenic progenitor or other mesenchymal cells (Probable). Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number.
  • [Soluble interleukin-11 receptor subunit alpha]: Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 activity (PubMed:30279168, PubMed:26876177). The IL11:sIL11RA complex binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL11RA in a process called IL11 trans-signaling (PubMed:30279168, PubMed:26876177).
  • [Isoform HCR2]: Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 activity (PubMed:30279168, PubMed:26876177). The IL11:sIL11RA complex binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL11RA in a process called IL11 trans-signaling (PubMed:30279168, PubMed:26876177).

Gene Wiki entry for IL11RA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL11RA Gene

Genomics for IL11RA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IL11RA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J034645 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -3.4 -3429 2.6 BCLAF1 SP1 ZNF207 MYC ZNF600 ZNF580 ZNF592 KLF9 POLR2A CEBPA GALT ENSG00000258728 HSALNG0070865 HSALNG0070866 IL11RA PIGO DCTN3 ENSG00000228352 SIGMAR1
GH09J034650 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.5 2492 4.8 ZNF600 MYC IKZF1 NFIC YY1 BHLHE40 MBD2 TBP ZNF341 HOMEZ IL11RA GALT ENSG00000230074 lnc-IL11RA-2 ENSG00000258728 lnc-CCL27-2 CCL27
GH09J034651 Enhancer 0.2 Ensembl 250.7 -0.2 -201 0.2 HSALNG0070866 IL11RA ENSG00000258728 GALT
GH09J034648 Enhancer 0.2 Ensembl 250.7 -1.8 -1801 0.2 HSALNG0070866 IL11RA ENSG00000258728 GALT
GH09J034987 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 +342.6 342578 10.6 SP1 ZNF654 ZNF207 MYC NCOR1 IKZF1 SIX5 JUND ZNF592 ATF2 DNAJB5 DNAJB5-DT VCP ARHGEF39 TPM2 FANCG UBAP2 FAM219A CCDC107 TLN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL11RA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL11RA

Top Transcription factor binding sites by QIAGEN in the IL11RA gene promoter:
  • AP-1
  • p53

Genomic Locations for IL11RA Gene

Latest Assembly
chr9:34,650,702-34,661,902
(GRCh38/hg38)
Size:
11,201 bases
Orientation:
Plus strand

Previous Assembly
chr9:34,652,182-34,661,899
(GRCh37/hg19 by Entrez Gene)
Size:
9,718 bases
Orientation:
Plus strand

chr9:34,650,699-34,661,889
(GRCh37/hg19 by Ensembl)
Size:
11,191 bases
Orientation:
Plus strand

Genomic View for IL11RA Gene

Genes around IL11RA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL11RA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL11RA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL11RA Gene

Proteins for IL11RA Gene

  • Protein details for IL11RA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14626-I11RA_HUMAN
    Recommended name:
    Interleukin-11 receptor subunit alpha
    Protein Accession:
    Q14626
    Secondary Accessions:
    • Q16542
    • Q5VZ80
    • Q7KYJ7

    Protein attributes for IL11RA Gene

    Size:
    422 amino acids
    Molecular mass:
    45222 Da
    Quaternary structure:
    • On IL11 binding, forms a multimer complex with IL6ST/gp130.
    Miscellaneous:
    • [Isoform HCR2]: Lacks the entire cytoplasmic domain.

    Three dimensional structures from OCA and Proteopedia for IL11RA Gene

    Alternative splice isoforms for IL11RA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL11RA Gene

Post-translational modifications for IL11RA Gene

  • A short soluble form is also released from the membrane by proteolysis (PubMed:26876177). The sIL11RA is formed either by limited proteolysis of membrane-bound receptors, a process referred to as ectodomain shedding, or directly secreted from the cells after alternative mRNA splicing (PubMed:26876177). mIL11RA is cleaved by the proteases ADAM10, ELANE and PRTN3 (PubMed:26876177).
  • Glycosylation at Asn127 and Asn194
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IL11RA Gene

Domains & Families for IL11RA Gene

Gene Families for IL11RA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IL11RA Gene

InterPro:
Blocks:
  • Long hematopoietin receptor, soluble alpha chain

Suggested Antigen Peptide Sequences for IL11RA Gene

GenScript: Design optimal peptide antigens:
  • Interleukin-11 receptor subunit alpha (I11RA_HUMAN)
  • cDNA FLJ78258, highly similar to Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA (Q5VZ79_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14626

UniProtKB/Swiss-Prot:

I11RA_HUMAN :
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
genes like me logo Genes that share domains with IL11RA: view

Function for IL11RA Gene

Molecular function for IL11RA Gene

UniProtKB/Swiss-Prot 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 differentiation of skeletogenic progenitor or other mesenchymal cells (Probable). Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number.
UniProtKB/Swiss-Prot Function:
[Soluble interleukin-11 receptor subunit alpha]: Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 activity (PubMed:30279168, PubMed:26876177). The IL11:sIL11RA complex binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL11RA in a process called IL11 trans-signaling (PubMed:30279168, PubMed:26876177).
UniProtKB/Swiss-Prot Function:
[Isoform HCR2]: Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 activity (PubMed:30279168, PubMed:26876177). The IL11:sIL11RA complex binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL11RA in a process called IL11 trans-signaling (PubMed:30279168, PubMed:26876177).
GENATLAS Biochemistry:
interleukin 11,receptor,alpha chain with two alternatively spliced forms A1,A2

Phenotypes From GWAS Catalog for IL11RA Gene

Gene Ontology (GO) - Molecular Function for IL11RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 7670098
GO:0004896 cytokine receptor activity IBA 21873635
GO:0004921 interleukin-11 receptor activity IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0019955 cytokine binding IBA 21873635
genes like me logo Genes that share ontologies with IL11RA: view
genes like me logo Genes that share phenotypes with IL11RA: view

Human Phenotype Ontology for IL11RA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL11RA Gene

MGI Knock Outs for IL11RA:

miRNA for IL11RA Gene

miRTarBase miRNAs that target IL11RA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL11RA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL11RA Gene

Localization for IL11RA Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL11RA Gene

[Interleukin-11 receptor subunit alpha]: Membrane. Single-pass type I membrane protein.
[Soluble interleukin-11 receptor subunit alpha]: Secreted.
[Isoform HCR2]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL11RA gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for IL11RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7670098
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IL11RA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL11RA Gene

Pathways & Interactions for IL11RA Gene

genes like me logo Genes that share pathways with IL11RA: view

Pathways by source for IL11RA Gene

7 Qiagen pathways for IL11RA Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • MAPK Family Pathway
  • Molecular Mechanisms of Cancer
  • p38 Signaling

SIGNOR curated interactions for IL11RA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IL11RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IBA 21873635
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0032502 developmental process IMP 21741611
GO:0038154 interleukin-11-mediated signaling pathway IEA --
GO:0060322 head development IMP 21741611
genes like me logo Genes that share ontologies with IL11RA: view

Drugs & Compounds for IL11RA Gene

(1) Drugs for IL11RA Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oprelvekin Approved, Investigational Pharma Target, agonist, binder 20

(1) Additional Compounds for IL11RA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL11RA: view

Transcripts for IL11RA Gene

mRNA/cDNA for IL11RA Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL11RA

Alternative Splicing Database (ASD) splice patterns (SP) for IL11RA Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - - - - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - - -
SP9: - - -

Relevant External Links for IL11RA Gene

GeneLoc Exon Structure for
IL11RA

Expression for IL11RA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL11RA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IL11RA Gene

This gene is overexpressed in Plasma (56.4) and Adipocyte (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL11RA Gene



Protein tissue co-expression partners for IL11RA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL11RA

SOURCE GeneReport for Unigene cluster for IL11RA Gene:

Hs.591088

mRNA Expression by UniProt/SwissProt for IL11RA Gene:

Q14626-I11RA_HUMAN
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). Also expressed in normal and malignant prostate epithelial cell lines. Expression levels are increased in prostate carcinoma.

Evidence on tissue expression from TISSUES for IL11RA Gene

  • Nervous system(4.6)
  • Muscle(4.4)
  • Skin(2.3)
  • Lymph node(2.1)
  • Heart(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL11RA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with IL11RA: view

Primer products for research

No data available for mRNA differential expression in normal tissues for IL11RA Gene

Orthologs for IL11RA Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL11RA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IL11RA 29 30
  • 99.45 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia IL11RA 29
  • 89.1 (n)
-- 30
  • 89 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia IL11RA 29 30
  • 87.97 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Il11ra1 29 16 30
  • 83.89 (n)
ManyToMany
Gm13305 16 30
  • 81 (a)
ManyToMany
Il11ra2 16 30
  • 81 (a)
ManyToMany
IL11RA2 30 30
  • 81 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Il11ra1 29
  • 83.49 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 59 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 45 (a)
OneToMany
Chicken
(Gallus gallus)
Aves IL11RA 29 30
  • 58.97 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 47 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia il11ra 29
  • 54.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii il11ra 29 30
  • 44.35 (n)
OneToMany
Species where no ortholog for IL11RA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IL11RA Gene

ENSEMBL:
Gene Tree for IL11RA (if available)
TreeFam:
Gene Tree for IL11RA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL11RA: view image
Alliance of Genome Resources:
Additional Orthologs for IL11RA

Paralogs for IL11RA Gene

Variants for IL11RA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL11RA Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
981195 Likely Pathogenic: Craniosynostosis and dental anomalies 34,658,654(+) C/T
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
981196 Likely Pathogenic: Craniosynostosis and dental anomalies 34,656,858(+) G/T
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs11575588 Benign: not provided 34,656,731(+) A/C
NM_001142784.3(IL11RA):c.162-8A>C
INTRON
rs11575589 Benign: not provided 34,656,770(+) C/Ap.Pro65Thr
NM_001142784.3(IL11RA):c.193C>A (p.Pro65Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1360163592 Uncertain Significance: not provided 34,658,600(+) C/A
NM_001142784.2(IL11RA):c.727C>A (p.Pro243Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IL11RA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IL11RA Gene

Variant ID Type Subtype PubMed ID
dgv12659n54 CNV loss 21841781
esv3620335 CNV gain 21293372
nsv1125318 OTHER inversion 24896259
nsv1161857 CNV deletion 26073780
nsv818699 CNV gain 17921354
nsv831544 CNV gain 17160897

Variation tolerance for IL11RA Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL11RA Gene

Human Gene Mutation Database (HGMD)
IL11RA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL11RA
Leiden Open Variation Database (LOVD)
IL11RA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL11RA Gene

Disorders for IL11RA Gene

MalaCards: The human disease database

(5) MalaCards diseases for IL11RA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
craniosynostosis and dental anomalies
  • crsda
craniosynostosis
  • premature closure of cranial sutures
hypertelorism, microtia, facial clefting syndrome
  • hmc syndrome
epilepsy, familial temporal lobe, 2
  • etl2
crouzon syndrome
  • craniofacial dysostosis, type i; cfd1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

I11RA_HUMAN
  • Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]: A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly. {ECO:0000269 PubMed:21741611}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IL11RA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IL11RA: view

No data available for Genatlas for IL11RA Gene

Publications for IL11RA Gene

  1. Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13. (PMID: 8808281) Van Leuven F … Gossler A (Genomics 1996) 2 3 4 22
  2. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. (PMID: 21741611) Nieminen P … Thesleff I (American journal of human genetics 2011) 3 4 72
  3. Increased expression of the interleukin-11 receptor and evidence of STAT3 activation in prostate carcinoma. (PMID: 11141475) Campbell CL … Savarese TM (The American journal of pathology 2001) 3 4 22
  4. Molecular cloning of two isoforms of a receptor for the human hematopoietic cytokine interleukin-11. (PMID: 7670098) Chérel M … Jacques Y (Blood 1995) 2 3 4
  5. Proteolytic Cleavage Governs Interleukin-11 Trans-signaling. (PMID: 26876177) Lokau J … Garbers C (Cell reports 2016) 3 4

Products for IL11RA Gene

Sources for IL11RA Gene