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IL11RA interleukin 11 receptor subunit alpha [ Homo sapiens (human) ]

Gene ID: 3590, updated on 5-Mar-2024

Summary

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Official Symbol
IL11RAprovided by HGNC
Official Full Name
interleukin 11 receptor subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:5967
See related
Ensembl:ENSG00000137070 MIM:600939; AllianceGenome:HGNC:5967
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRSDA
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 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]
Expression
Ubiquitous expression in heart (RPKM 21.3), skin (RPKM 17.1) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
9p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34652185..34661902)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34670713..34680432)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34652182..34661899)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19853 Neighboring gene Sharpr-MPRA regulatory region 8240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34654819-34655434 Neighboring gene sigma non-opioid intracellular receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34659625-34660126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19855 Neighboring gene uncharacterized LOC124902146 Neighboring gene uncharacterized LOC730098 Neighboring gene galactose-1-phosphate uridylyltransferase Neighboring gene C-C motif chemokine ligand 27 Neighboring gene PHD finger protein 24

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis. Topa A, et al. Eur J Med Genet, 2022 May. PMID 35331937
  2. IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts. Adami E, et al. Rheumatology (Oxford), 2021 Dec 1. PMID 33590875, Free PMC Article
  3. Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9. Nishimura N, et al. Congenit Anom (Kyoto), 2020 Sep. PMID 32277509
  4. Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome. Korakavi N, et al. Am J Med Genet A, 2019 Apr. PMID 30811827
  5. IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. Brischoux-Boucher E, et al. Clin Genet, 2018 Oct. PMID 29926465

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biophysical insight into protein-protein interactions in the Interleukin-11/Interleukin-11Ralpha/glycoprotein 130 signaling complex.
    Title: Biophysical insight into protein-protein interactions in the Interleukin-11/Interleukin-11Rα/glycoprotein 130 signaling complex.
  2. IL-11 system participates in pulmonary artery remodeling and hypertension in pulmonary fibrosis.
    Title: IL-11 system participates in pulmonary artery remodeling and hypertension in pulmonary fibrosis.
  3. The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.
    Title: The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.
  4. Interleukin-11 receptor expression on monocytes is dispensable for their recruitment and pathogen uptake during Leishmania major infection.
    Title: Interleukin-11 receptor expression on monocytes is dispensable for their recruitment and pathogen uptake during Leishmania major infection.
  5. IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFbeta-mediated activation of dermal fibroblasts.
    Title: IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts.
  6. Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease RHBDL2 induces IL-11 trans-signaling.
    Title: Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease RHBDL2 induces IL-11 trans-signaling.
  7. Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.
    Title: Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.
  8. The structure of the extracellular domains of human interleukin 11alpha receptor reveals mechanisms of cytokine engagement.
    Title: The structure of the extracellular domains of human interleukin 11α receptor reveals mechanisms of cytokine engagement.
  9. IL11RA mutation is associated with craniosynostosis with dental anomalies syndrome.
    Title: Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.
  10. identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig-like C2-type domain
    Title: IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Craniosynostosis and dental anomalies
MedGen: C3280073 OMIM: 614188 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: GALT

Homology

Clone Names

  • MGC2146

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables interleukin-11 binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables interleukin-11 receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables interleukin-11 receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in developmental process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in head development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in interleukin-11-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IC
Inferred by Curator
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
interleukin-11 receptor subunit alpha
Names
IL-11 receptor subunit alpha
IL-11R subunit alpha
interleukin 11 receptor, alpha
interleukin-11 receptor alpha chain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028966.1 RefSeqGene

    Range
    5001..14718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142784.3 → NP_001136256.1  interleukin-11 receptor subunit alpha precursor

    See identical proteins and their annotated locations for NP_001136256.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes a functional protein.
    Source sequence(s)
    BC003110, DA917660, Z38102
    Consensus CDS
    CCDS6567.1
    UniProtKB/Swiss-Prot
    Q14626, Q16542, Q5VZ80, Q7KYJ7
    UniProtKB/TrEMBL
    A0A8J9AZZ3, Q5VZ79
    Related
    ENSP00000394391.3, ENST00000441545.7
    Conserved Domains (3) summary
    smart00410
    Location:33 → 109
    IG_like; Immunoglobulin like
    cd00063
    Location:218 → 310
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl11960
    Location:40 → 95
    Ig; Immunoglobulin domain

RNA

  1. NR_052010.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon, compared to variant 3. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC003110, DC424068, Z38102
    Related
    ENST00000685430.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    34652185..34661902
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    34670713..34680432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004512.3: Suppressed sequence

    Description
    NM_004512.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_147162.1: Suppressed sequence

    Description
    NM_147162.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14626.2 GenPept UniProtKB/Swiss-Prot:Q14626

Gene LinkOut

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