GeneBe

IL17RA

protein-coding

interleukin 17 receptor A, the group of CD molecules|Interleukin receptors

Gene 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]

Previous symbols:
  • IL17R

MANE transcript

NM_014339.7

Inheritance

AD, AR

ClinVar variants

P:36U:403B:301

Top phenotype

Immunodeficiency 51

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr22:17,084,954-17,115,693

External References & Databases

Ensembl (ENSG00000177663)NCBI Gene (23765)OMIM (605461)HGNC:5985GenCCUniProt (Q96F46)AlphaFoldClinVar (IL17RA)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~30.7 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

chronic mucocutaneous candidiasisSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0015279

Submitter: Orphanet

immunodeficiency 51STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0013500

Submitter: Labcorp Genetics (formerly Invitae)

immunodeficiency 51STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0013500

Submitter: PanelApp Australia

immunodeficiency 51LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0013500

Submitter: Ambry Genetics

Clinical Genomic Database (CGD)

Immunodeficiency 51AR

Manifestation: Allergy/Immunology/Infectious

Intervention: Allergy/Immunology/Infectious

Rationale: Individuals have been described as susceptible to infections such as Candida albicans, Staphlycoccal skin infections, and bacterial respiratory infections, and awareness may allow early detection and early and aggressive treatment of infections

Refs: 21350122; 27930337Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to IL17RA variants in ClinVar

8 Conditions Cataloged
Immunodeficiency 51Total: 745
not specifiedTotal: 250
not providedTotal: 70
IL17RA-related disorderTotal: 22
IL17RA-related disordersTotal: 5
See casesTotal: 2
PsoriasisTotal: 1
Chronic mucocutaneous candidiasisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014339.7. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
10
clinvar
255
clinvar
1
clinvar
 266
missense
1
clinvar
1
clinvar
383
clinvar
43
clinvar
2
clinvar
 430
nonsense
4
clinvar
3
clinvar
3
clinvar
 10
start loss
0
frameshift
11
clinvar
7
clinvar
6
clinvar
 24
splice donor/acceptor (+/-2bp)
9
clinvar
1
clinvar
 10
Total16204032983740

Highest pathogenic variant AF is 0.000013140259

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_014339.7RefSeqNP_055154.313MANE Select
ENST00000319363.11EnsemblENSP00000320936.613MANE Select
NM_001289905.2RefSeqNP_001276834.112Standard
ENST00000477874.1EnsemblENSP00000511612.12Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • IL-17 signaling pathway - Homo sapiens (human)
  • Cytokine-cytokine receptor interaction - Homo sapiens (human)
  • IL17 signaling pathway
  • JAK STAT MolecularVariation 1
  • JAK STAT MolecularVariation 2

Biological Process

  • cell surface receptor signaling pathway
  • positive regulation of interleukin-23 production
  • defense response to fungus
  • granulocyte chemotaxis
  • fibroblast activation

Molecular Function

  • signaling receptor binding
  • protein binding
  • interleukin-17 receptor activity

Cellular Component

  • extracellular region
  • plasma membrane
  • integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000319363
Coding exons
13
Length
30740
Individuals with no LoFs
125718
Homozygous LoFs
0
Heterozygous LoFs
30
Defined
125748
p
0.000119
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.7955625111.100.00003575559
Missense (PolyPhen)133144.260.921951854
Synonymous-1.942752371.160.00001871778
Loss of Function3.081128.80.3820.00000143305

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000130.00012rare
Latino/Admixed American0.000200.00020rare
Ashkenazi Jewish00.0absent
East Asian0.0000560.000054rare
Finnish00.0absent
European (Non-Finnish)0.000140.00014rare
South Asian0.0000650.000065rare
Other0.000330.00033rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Receptor for IL17A (PubMed:17911633, PubMed:9367539). Receptor for IL17F (PubMed:19838198, PubMed:17911633). Binds to IL17A with higher affinity than to IL17F (PubMed:17911633). Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC (PubMed:16785495). Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC (PubMed:18684971). Receptor for IL17C as part of a heterodimeric complex with IL17RE (PubMed:21993848). Activation of IL17RA leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1, CXCL8/IL8 and IL6 (PubMed:16785495, PubMed:17911633, PubMed:18684971). {ECO:0000269|PubMed:16785495, ECO:0000269|PubMed:17911633, ECO:0000269|PubMed:18684971, ECO:0000269|PubMed:19838198, ECO:0000269|PubMed:21993848, ECO:0000269|PubMed:9367539}.;
Disease
DISEASE: Immunodeficiency 51 (IMD51) [MIM:613953]: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. {ECO:0000269|PubMed:21350122}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.203

Intolerance Scores

LoFtool
0.624
RVIS EVS
0.25
RVIS percentile EVS
69.66

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.941

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium
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