IL18
interleukin 18, the group of Interleukins
Basic information
Region (hg38): 11:112143252-112164096
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL18 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 | |||||
| missense | 1 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 1 | 1 | ||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 1 | 1 | 0 |
Variants in IL18
This is a list of pathogenic ClinVar variants found in the IL18 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-112143678-C-T | not specified | Uncertain significance (Apr 18, 2023) | ||
| 11-112143780-C-T | not specified | Likely benign (Jan 30, 2024) | ||
| 11-112145791-G-A | Three Vessel Coronary Disease | Benign (-) | ||
| 11-112150082-A-C | Likely benign (Jun 14, 2018) | |||
| 11-112150193-T-G | Three Vessel Coronary Disease | Benign (-) | ||
| 11-112153608-G-T | Benign (Jun 15, 2018) | |||
| 11-112154980-A-C | not specified | Uncertain significance (Oct 02, 2023) | ||
| 11-112155980-A-G | Three Vessel Coronary Disease | Benign (-) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IL18 | protein_coding | protein_coding | ENST00000280357 | 5 | 20867 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0307 | 0.823 | 124501 | 0 | 3 | 124504 | 0.0000120 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.52 | 51 | 92.0 | 0.554 | 0.00000433 | 1312 |
| Missense in Polyphen | 10 | 24.439 | 0.40919 | 402 | ||
| Synonymous | 0.665 | 25 | 29.6 | 0.844 | 0.00000146 | 316 |
| Loss of Function | 1.13 | 3 | 5.99 | 0.501 | 2.50e-7 | 97 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000273 | 0.0000266 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: A proinflammatory cytokine primarily involved in polarized T-helper 1 (Th1) cell and natural killer (NK) cell immune responses (Probable). Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators (PubMed:14528293, PubMed:25500532). Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells and natural killer (NK) cells (Probable) (PubMed:10653850). {ECO:0000269|PubMed:10653850, ECO:0000269|PubMed:14528293, ECO:0000269|PubMed:25500532, ECO:0000305}.;
- Pathway
- Salmonella infection - Homo sapiens (human);Legionellosis - Homo sapiens (human);Influenza A - Homo sapiens (human);Inflammatory bowel disease (IBD) - Homo sapiens (human);African trypanosomiasis - Homo sapiens (human);Malaria - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Nucleotide-binding Oligomerization Domain (NOD) pathway;Corticotropin-releasing hormone signaling pathway;IL1 and megakaryocytes in obesity;Development and heterogeneity of the ILC family;TYROBP Causal Network;Interleukin-10 signaling;Interleukin-4 and 13 signaling;Hypertrophy Model;Signaling by Interleukins;ras-independent pathway in nk cell-mediated cytotoxicity;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;IL12 signaling mediated by STAT4;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Interleukin-18 signaling;Immune System;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT pathway and regulation;GPCR signaling-G alpha i;IL23-mediated signaling events;IL27-mediated signaling events;Interleukin-1 processing;IL12-mediated signaling events;Cellular roles of Anthrax toxin;Interleukin-1 family signaling
(Consensus)
Recessive Scores
- pRec
- 0.550
Intolerance Scores
- loftool
- 0.585
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- 0.0406
- hipred
- N
- hipred_score
- 0.327
- ghis
- 0.547
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.376
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Il18
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype;
Gene ontology
- Biological process
- MAPK cascade;angiogenesis;inflammatory response;cell-cell signaling;cell population proliferation;regulation of signaling receptor activity;positive regulation of macrophage derived foam cell differentiation;positive regulation of phosphatidylinositol 3-kinase signaling;cytokine-mediated signaling pathway;natural killer cell activation;regulation of cell adhesion;sleep;lipopolysaccharide-mediated signaling pathway;activation of protein kinase B activity;interleukin-6 production;positive regulation of granulocyte macrophage colony-stimulating factor production;positive regulation of interferon-gamma production;positive regulation of interleukin-17 production;positive regulation of natural killer cell proliferation;positive regulation of tissue remodeling;interleukin-18-mediated signaling pathway;T-helper 1 cell cytokine production;chemokine biosynthetic process;T-helper 1 type immune response;type 2 immune response;interleukin-2 biosynthetic process;interferon-gamma biosynthetic process;positive regulation of activated T cell proliferation;neutrophil activation;interleukin-13 biosynthetic process;granulocyte macrophage colony-stimulating factor biosynthetic process;natural killer cell mediated cytotoxicity;positive regulation of tyrosine phosphorylation of STAT protein;cholesterol homeostasis;positive regulation of T-helper 2 cell differentiation;negative regulation of myoblast differentiation;positive regulation of transcription by RNA polymerase II;positive regulation of smooth muscle cell proliferation;positive regulation of inflammatory response;positive regulation of NF-kappaB transcription factor activity;positive regulation of NK T cell proliferation;positive regulation of protein kinase B signaling;triglyceride homeostasis;cellular response to organic cyclic compound;positive regulation of cold-induced thermogenesis;positive regulation of neuroinflammatory response;positive regulation of NIK/NF-kappaB signaling;positive regulation of T-helper 1 cell cytokine production
- Cellular component
- extracellular region;extracellular space;cytosol
- Molecular function
- cytokine activity;protein binding;interleukin-18 receptor binding