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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis.
Title: Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis.
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.
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.
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.
IL17A and IL17RA gene polymorphisms in Fanconi anemia.
Title: IL17A and IL17RA gene polymorphisms in Fanconi anemia.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

G60051 (e-PCR)
- UniSTS:137313

RH102534 (e-PCR)
- UniSTS:96868

SHGC-79240 (e-PCR)
- UniSTS:102771

SHGC-67307 (e-PCR)
- UniSTS:89991

SHGC-107621 (e-PCR)
- UniSTS:170439

RH46090 (e-PCR)
- UniSTS:38865

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

NG_028257.1 RefSeqGene

Range

4999..35734

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_355

mRNA and Protein(s)

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
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