IL17RC

interleukin 17 receptor C, the group of Interleukin receptors

Basic information

Region (hg38): 3:9917073-9933630

Links

ENSG00000163702 ∙ NCBI:84818 ∙ OMIM:610925 ∙ HGNC:18358 ∙ Uniprot:Q8NAC3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• chronic mucocutaneous candidiasis (Supportive), mode of inheritance: AD
• candidiasis, familial, 9 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Candiasis, familial, 9	AR	Allergy/Immunology/Infectious	Individuals have been described as susceptible to Candida albicansinfections, and awareness may allow early detection and early treatment of infections	Allergy/Immunology/Infectious	25918342

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL17RC gene.

• Candidiasis, familial, 9 (533 variants)
• Inborn genetic diseases (36 variants)
• not provided (22 variants)
• not specified (8 variants)
• IL17RC-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17RC gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			5	118	16	139
missense			226	18	9	253
nonsense		2	10			12
start loss						0
frameshift			6	2		8
inframe indel			4	1		5
splice donor/acceptor (+/-2bp)			8			8
splice region		1	13	14	3	31
non coding			26	51	13	90
Total	0	2	285	190	38

Highest pathogenic variant AF is 0.000203

Variants in IL17RC

This is a list of pathogenic ClinVar variants found in the IL17RC region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-9917263-T-TG		not specified	Benign (Jan 24, 2024)
3-9917321-T-C		Candidiasis, familial, 9	Likely benign (Jul 14, 2023)
3-9917327-C-G		Candidiasis, familial, 9	Benign (Jan 08, 2024)
3-9917329-G-C		Candidiasis, familial, 9	Uncertain significance (Sep 27, 2022)
3-9917335-T-C		Candidiasis, familial, 9	Uncertain significance (Jun 07, 2021)
3-9917336-G-A		Candidiasis, familial, 9	Likely benign (Oct 03, 2023)
3-9917342-C-G		Candidiasis, familial, 9	Likely benign (Jan 08, 2023)
3-9917349-C-T		Candidiasis, familial, 9 • IL17RC-related disorder	Benign (Jan 29, 2024)
3-9917355-C-T			Uncertain significance (Apr 13, 2023)
3-9917356-G-A		Candidiasis, familial, 9 • not specified	Uncertain significance (Dec 07, 2023)
3-9917357-A-C		Candidiasis, familial, 9	Likely benign (Sep 01, 2023)
3-9917359-G-A		Candidiasis, familial, 9	Uncertain significance (Jul 06, 2021)
3-9917360-C-T		Candidiasis, familial, 9	Likely benign (Mar 29, 2023)
3-9917367-G-T		Candidiasis, familial, 9	Uncertain significance (Nov 06, 2019)
3-9917372-T-C		Candidiasis, familial, 9	Likely benign (Dec 15, 2023)
3-9917377-T-C		Candidiasis, familial, 9	Uncertain significance (Nov 14, 2022)
3-9917383-G-C		Candidiasis, familial, 9	Uncertain significance (Jul 05, 2022)
3-9917384-G-T		Candidiasis, familial, 9 • not specified	Uncertain significance (Oct 10, 2023)
3-9917387-T-G		Candidiasis, familial, 9	Likely benign (Nov 14, 2019)
3-9917393-G-T		Candidiasis, familial, 9	Likely benign (Jan 25, 2020)
3-9917397-C-T		Candidiasis, familial, 9	Uncertain significance (Feb 03, 2021)
3-9917402-C-T		Candidiasis, familial, 9	Likely benign (Sep 22, 2022)
3-9917403-G-A		Candidiasis, familial, 9	Uncertain significance (Dec 15, 2023)
3-9917403-G-T		Candidiasis, familial, 9 • not specified	Uncertain significance (Aug 30, 2021)
3-9917408-C-T		Candidiasis, familial, 9	Likely benign (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17RC	protein_coding	protein_coding	ENST00000295981	19	16557

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.30e-14	0.951	124302	10	1436	125748	0.00577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0924	441	447	0.988	0.0000237	4973
Missense in Polyphen		81	91.844	0.88193		1166
Synonymous	-1.26	224	201	1.11	0.0000117	1679
Loss of Function	2.28	29	45.6	0.636	0.00000241	447

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00756	0.00727
Ashkenazi Jewish	0.00159	0.000993
East Asian	0.000437	0.000435
Finnish	0.00565	0.00505
European (Non-Finnish)	0.0111	0.00926
Middle Eastern	0.000437	0.000435
South Asian	0.00196	0.00147
Other	0.0109	0.00834

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RA (PubMed:16785495). Receptor for the heterodimer formed by IL17A and IL17B as part of a heterodimeric complex with IL17RA (PubMed:18684971). Has also been shown to be the cognate receptor for IL17F and to bind IL17A with high affinity without the need for IL17RA (PubMed:17911633). Activation of IL17RC leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1 (PubMed:16785495). {ECO:0000269|PubMed:16785495, ECO:0000269|PubMed:17911633, ECO:0000269|PubMed:18684971}.; FUNCTION: Isoform 6: Does not bind IL17A or IL17F. {ECO:0000269|PubMed:16785495}.; FUNCTION: Isoform 8: Receptor for both IL17A and IL17F. {ECO:0000269|PubMed:16785495}.
• Disease: DISEASE: Candidiasis, familial, 9 (CANDF9) [MIM:616445]: A disorder characterized by 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:25918342}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway (Consensus)

Intolerance Scores

• loftool: 0.931
• rvis_EVS: 2.09
• rvis_percentile_EVS: 97.87

Haploinsufficiency Scores

• pHI: 0.203
• hipred: N
• hipred_score: 0.172
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.252

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Il17rc
• Phenotype: immune system phenotype; normal phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: defense response to fungus;granulocyte chemotaxis;interleukin-17-mediated signaling pathway;positive regulation of cytokine production involved in inflammatory response;positive regulation of interleukin-6 secretion
• Cellular component: plasma membrane;cell surface;integral component of membrane
• Molecular function: signaling receptor binding;interleukin-17 receptor activity