IL18RAP

interleukin 18 receptor accessory protein, the group of CD molecules|Interleukin receptors|Immunoglobulin like domain containing|TIR domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 2:102418688-102452565

Links

ENSG00000115607 ∙ NCBI:8807 ∙ OMIM:604509 ∙ HGNC:5989 ∙ Uniprot:O95256 ∙ 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 IL18RAP gene.

• Inborn genetic diseases (19 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL18RAP 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			15	4	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	5	1

Variants in IL18RAP

This is a list of pathogenic ClinVar variants found in the IL18RAP region.

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

Position	Type	Phenotype	Significance	ClinVar
2-102423314-G-T		not specified	Likely benign (Aug 02, 2022)
2-102423822-A-G		not specified	Uncertain significance (Oct 12, 2021)
2-102423837-A-G		not specified	Likely benign (Oct 26, 2022)
2-102424104-G-C		not specified	Uncertain significance (May 03, 2023)
2-102424266-T-C		not specified	Uncertain significance (May 17, 2023)
2-102424272-A-C		not specified	Uncertain significance (Jun 07, 2023)
2-102424325-G-T		not specified	Likely benign (Jul 06, 2021)
2-102424707-T-C		Ascending aortic dissection	association (Feb 01, 2021)
2-102437250-C-T			Likely benign (May 25, 2018)
2-102437251-G-A		not specified	Uncertain significance (Sep 15, 2021)
2-102437263-G-A		not specified	Likely benign (Feb 23, 2023)
2-102437309-C-T		not specified	Uncertain significance (Oct 21, 2021)
2-102437356-A-G		not specified	Uncertain significance (Sep 20, 2023)
2-102441345-A-T		not specified	Uncertain significance (May 17, 2023)
2-102441354-A-G		not specified	Uncertain significance (Oct 03, 2022)
2-102443235-G-A		not specified	Uncertain significance (Aug 13, 2021)
2-102443271-T-C		not specified	Uncertain significance (Nov 02, 2023)
2-102443307-G-T		not specified	Uncertain significance (Dec 07, 2021)
2-102443564-T-A		Ascending aortic dissection	association (Feb 01, 2021)
2-102445221-A-G		not specified	Uncertain significance (May 27, 2022)
2-102445230-T-A		not specified	Uncertain significance (Sep 29, 2023)
2-102445316-G-A			Benign (Feb 26, 2018)
2-102450871-G-A		not specified	Likely benign (Feb 21, 2024)
2-102451868-C-G		not specified	Uncertain significance (Apr 25, 2023)
2-102451922-T-A		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL18RAP	protein_coding	protein_coding	ENST00000264260	10	33877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00218	0.998	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.699	283	318	0.890	0.0000160	3915
Missense in Polyphen		52	83.281	0.62439		1152
Synonymous	-0.592	131	123	1.07	0.00000667	1132
Loss of Function	3.30	10	29.3	0.342	0.00000155	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000638	0.0000638
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000740	0.000739
European (Non-Finnish)	0.0000712	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Within the IL18 receptor complex, does not mediate IL18- binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation (PubMed:9792649, PubMed:14528293, PubMed:25500532). May play a role in IL18- mediated IFNG synthesis from T-helper 1 (Th1) cells (Probable). {ECO:0000269|PubMed:14528293, ECO:0000269|PubMed:25500532, ECO:0000269|PubMed:9792649, ECO:0000305|PubMed:10653850}.
• Pathway: Inflammatory bowel disease (IBD) - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Signaling by Interleukins;Cytokine Signaling in Immune system;IL12 signaling mediated by STAT4;Interleukin-18 signaling;Immune System;IL23-mediated signaling events;IL12-mediated signaling events;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.178

Intolerance Scores

• loftool: 0.624
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.61

Haploinsufficiency Scores

• pHI: 0.0878
• hipred: N
• hipred_score: 0.273
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0357

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il18rap
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: inflammatory response;immune response;cell population proliferation;interferon-gamma production;interleukin-6 production;interleukin-18-mediated signaling pathway;T-helper 1 cell cytokine production;neutrophil activation;positive regulation of natural killer cell mediated cytotoxicity;positive regulation of NF-kappaB transcription factor activity;cellular response to hydrogen peroxide
• Cellular component: plasma membrane;interleukin-18 receptor complex
• Molecular function: interleukin-18 receptor activity