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    IL17RA interleukin 17 receptor A [ Homo sapiens (human) ]

    Gene ID: 23765, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IL17RAprovided by HGNC
    Official Full Name
    interleukin 17 receptor Aprovided by HGNC
    Primary source
    HGNC:HGNC:5985
    See related
    Ensembl:ENSG00000177663 MIM:605461; AllianceGenome:HGNC:5985
    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
    CD217; IL17R; IMD51; CANDF5; CDw217; IL-17RA; hIL-17R
    Summary
    Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
    Expression
    Ubiquitous expression in bone marrow (RPKM 11.6), appendix (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IL17RA in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17085000..17115693)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17761784..17792571)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17565890..17596583)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 9 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18610 Neighboring gene cat eye syndrome chromosome region, candidate 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62188 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17538919-17539419 Neighboring gene Sharpr-MPRA regulatory region 13635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13432 Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene MPRA-validated peak4440 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18611 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17602677-17603208 Neighboring gene transmembrane protein 121B Neighboring gene long intergenic non-protein coding RNA 1664

    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 promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients. Ibayyan L, et al. J Mol Neurosci, 2014 Apr. PMID 24166352
    2. Interleukin 17 receptor A haplotype analysis in chronic spontaneous urticaria: A preliminary study. Nada H, et al. J Cosmet Dermatol, 2021 Apr. PMID 32969586
    3. IL17RA in early-onset coronary artery disease: Total leukocyte transcript analysis and promoter polymorphism (rs4819554) association. Coto E, et al. Cytokine, 2020 Dec. PMID 32950026
    4. Systematic analysis of the IL-17 receptor signalosome reveals a robust regulatory feedback loop. Draberova H, et al. EMBO J, 2020 Sep 1. PMID 32696476, Free PMC Article
    5. IL17RA variations showed no associations with post-bronchiolitis asthma or lung function. Lauhkonen E, et al. Pediatr Int, 2021 Feb. PMID 32654355

    See all (130) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased interleukin-17RA expression is associated with good prognosis in patients with colorectal cancer and inhibits tumor growth and vascularity in mice.
      Title: Decreased interleukin-17RA expression is associated with good prognosis in patients with colorectal cancer and inhibits tumor growth and vascularity in mice.
    2. Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis.
      Title: Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis.
    3. Mechanistic Insights into the Roles of the IL-17/IL-17R Families in Pancreatic Cancer.
      Title: Mechanistic Insights into the Roles of the IL-17/IL-17R Families in Pancreatic Cancer.
    4. Association between IL-17F, IL-17RA Gene Polymorphisms and Response to Biological Drugs in Psoriasis and Beyond.
      Title: Association between IL-17F, IL-17RA Gene Polymorphisms and Response to Biological Drugs in Psoriasis and Beyond.
    5. Immunogenic Cell Death Associated Molecular Patterns and the Dual Role of IL17RA in Interstitial Cystitis/Bladder Pain Syndrome.
      Title: Immunogenic Cell Death Associated Molecular Patterns and the Dual Role of IL17RA in Interstitial Cystitis/Bladder Pain Syndrome.
    6. IL17A and IL17RA gene polymorphisms in Fanconi anemia.
      Title: IL17A and IL17RA gene polymorphisms in Fanconi anemia.
    7. lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway.
      Title: lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway.
    8. Evaluation of interleukin-17 receptor (IL-17RA) gene expression in PBMCs of patients with premature coronary artery disease.
      Title: Evaluation of interleukin-17 receptor (IL-17RA) gene expression in PBMCs of patients with premature coronary artery disease.
    9. Serum IL-17A concentration and a IL17RA single nucleotide polymorphism contribute to the risk of autoimmune type 1 diabetes.
      Title: Serum IL-17A concentration and a IL17RA single nucleotide polymorphism contribute to the risk of autoimmune type 1 diabetes.
    10. Polymorphisms within Genes Coding for IL-17A and F and Their Receptor as Clinical Hallmarks in Ankylosing Spondylitis.
      Title: Polymorphisms within Genes Coding for IL-17A and F and Their Receptor as Clinical Hallmarks in Ankylosing Spondylitis.
    Submit: New GeneRIF Correction See all GeneRIFs (97)

    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
    Immunodeficiency 51
    MedGen: C4310803 OMIM: 613953 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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: CECR7

    Homology

    Clone Names

    • FLJ32274, FLJ36453, MGC10262

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables interleukin-17 receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables interleukin-17 receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables interleukin-17 receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in T-helper 17 type immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in granulocyte chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interleukin-17-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in interleukin-17-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in interleukin-17A-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of chemokine (C-X-C motif) ligand 1 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-13 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-23 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-5 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    interleukin-17 receptor A
    Names
    IL-17 receptor A

    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_028257.1 RefSeqGene

      Range
      4999..35734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_355

    mRNA and Protein(s)

    1. NM_001289905.2 → NP_001276834.1  interleukin-17 receptor A isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes a soluble isoform, isoform 2 which is shorter and lacks a transmembrane region, when compared to isoform 1.
      Source sequence(s)
      AC006946, BX368715, BX410574
      Consensus CDS
      CCDS77645.1
      UniProtKB/Swiss-Prot
      Q96F46
      Related
      ENSP00000479970.1, ENST00000612619.2
      Conserved Domains (3) summary
      pfam08357
      Location:344 → 502
      SEFIR; SEFIR domain
      pfam16556
      Location:48 → 198
      IL17R_fnIII_D1; Interleukin-17 receptor, fibronectin-III-like domain 1
      pfam16578
      Location:199 → 303
      IL17R_fnIII_D2; Interleukin 17 receptor D

    2. NM_014339.7 → NP_055154.3  interleukin-17 receptor A isoform 1 precursor

      See identical proteins and their annotated locations for NP_055154.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC006946, BU585070, CB044543, U58917
      Consensus CDS
      CCDS13739.1
      UniProtKB/Swiss-Prot
      O43844, Q20WK1, Q96F46
      Related
      ENSP00000320936.6, ENST00000319363.11
      Conserved Domains (3) summary
      pfam08357
      Location:378 → 536
      SEFIR; SEFIR domain
      pfam16556
      Location:48 → 198
      IL17R_fnIII_D1; Interleukin-17 receptor, fibronectin-III-like domain 1
      pfam16578
      Location:199 → 303
      IL17R_fnIII_D2; Interleukin 17 receptor D

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17085000..17115693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17761784..17792571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96F46.2 GenPept UniProtKB/Swiss-Prot:Q96F46

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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