IL18R1

interleukin 18 receptor 1, the group of Immunoglobulin like domain containing|TIR domain containing|CD molecules|Interleukin receptors

Basic information

Region (hg38): 2:102311528-102398777

Links

ENSG00000115604 ∙ NCBI:8809 ∙ OMIM:604494 ∙ HGNC:5988 ∙ Uniprot:Q13478 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL18R1 gene.

• Inborn genetic diseases (9 variants)
• Behcet disease (3 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL18R1 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					1	1
missense			8	1	1	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	2

Variants in IL18R1

This is a list of pathogenic ClinVar variants found in the IL18R1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-102314488-A-G		Ascending aortic dissection	association (Feb 01, 2021)
2-102338283-G-T			Likely benign (Jun 22, 2018)
2-102338909-C-A		not specified	Uncertain significance (May 24, 2023)
2-102338916-T-C			Likely benign (Dec 01, 2023)
2-102338965-C-T		not specified	Uncertain significance (Sep 17, 2021)
2-102339020-C-G		not specified	Uncertain significance (Dec 27, 2022)
2-102340123-G-A		not specified	Uncertain significance (Apr 13, 2023)
2-102340192-T-A		not specified	Uncertain significance (Oct 13, 2023)
2-102340194-T-C			Benign (Jun 18, 2018)
2-102340228-A-G		not specified	Uncertain significance (Oct 26, 2022)
2-102340676-C-T			Benign (Dec 31, 2019)
2-102340704-C-A		not specified	Uncertain significance (Jul 09, 2021)
2-102340744-G-A			Benign (Feb 05, 2021)
2-102340747-G-A		not specified	Uncertain significance (May 18, 2023)
2-102340784-G-T		not specified	Uncertain significance (Dec 07, 2021)
2-102340802-C-T		not specified	Uncertain significance (Mar 02, 2023)
2-102340819-A-G		not specified	Uncertain significance (Feb 01, 2023)
2-102340821-G-T			Likely benign (Jun 29, 2018)
2-102340826-A-G		not specified	Uncertain significance (Aug 21, 2023)
2-102342236-T-G		not specified	Uncertain significance (Feb 22, 2023)
2-102342258-G-A			Benign/Likely benign (Jan 01, 2023)
2-102343044-G-A		not specified	Likely benign (Dec 27, 2023)
2-102343174-A-G		not specified	Uncertain significance (May 23, 2023)
2-102343287-C-A		not specified	Uncertain significance (Oct 03, 2023)
2-102343318-C-T			Benign (Jul 31, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL18R1	protein_coding	protein_coding	ENST00000409599	10	87230

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000862	0.984	125720	0	27	125747	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.974	233	279	0.836	0.0000137	3552
Missense in Polyphen		67	85.057	0.7877		1182
Synonymous	-0.522	113	106	1.06	0.00000592	994
Loss of Function	2.17	12	23.3	0.514	0.00000114	329

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000334	0.000333
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000470	0.0000462
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Within the IL18 receptor complex, responsible for the binding of the proinflammatory cytokine IL18, but not IL1A nor IL1B (PubMed:8626725, PubMed:14528293, PubMed:25261253, PubMed:25500532). Involved in IL18-mediated IFNG synthesis from T- helper 1 (Th1) cells (PubMed:10653850). Contributes to IL18- induced cytokine production, either independently of SLC12A3, or as a complex with SLC12A3 (By similarity). {ECO:0000250|UniProtKB:Q61098, ECO:0000269|PubMed:10653850, ECO:0000269|PubMed:14528293, ECO:0000269|PubMed:25261253, ECO:0000269|PubMed:25500532, ECO:0000269|PubMed:8626725}.
• Pathway: Inflammatory bowel disease (IBD) - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Signaling by Interleukins;il12 and stat4 dependent signaling pathway in th1 development;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;IL12 signaling mediated by STAT4;Interleukin-18 signaling;Immune System;JAK STAT MolecularVariation 2;JAK STAT pathway and regulation;IL23-mediated signaling events;IL12-mediated signaling events;Interleukin-37 signaling;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.186

Intolerance Scores

• loftool: 0.831
• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.5

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.146
• ghis: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.240

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il18r1
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: inflammatory response;immune response;signal transduction;natural killer cell activation;positive regulation of interferon-gamma production;interleukin-18-mediated signaling pathway;T-helper 1 cell differentiation;positive regulation of NF-kappaB transcription factor activity;cellular response to cytokine stimulus;negative regulation of cold-induced thermogenesis;positive regulation of NIK/NF-kappaB signaling;positive regulation of T-helper 1 cell cytokine production
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: interleukin-1 receptor activity;protein binding;signaling receptor activity;interleukin-18 binding;interleukin-18 receptor activity