IL36RN
interleukin 36 receptor antagonist, the group of Interleukins
Basic information
Region (hg38): 2:113058638-113065382
Previous symbols: [ "IL1F5" ]
Links
Phenotypes
GenCC
Source:
- psoriasis 14, pustular (Strong), mode of inheritance: AR
- psoriasis 14, pustular (Strong), mode of inheritance: AR
- pustulosis palmaris et plantaris (Supportive), mode of inheritance: AD
- psoriasis 14, pustular (Supportive), mode of inheritance: AR
- psoriasis 14, pustular (Supportive), mode of inheritance: AR
- psoriasis 14, pustular (Supportive), mode of inheritance: AR
- psoriasis 14, pustular (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Psoriasis 14, pustular | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Allergy/Immunology/Infectious; Dermatologic | 21848462; 21839423; 22903787; 23698098 |
ClinVar
This is a list of variants' phenotypes submitted to
- Generalized_pustular_psoriasis (129 variants)
- Autoinflammatory_syndrome (21 variants)
- not_provided (17 variants)
- Acrodermatitis_continua_suppurativa_of_Hallopeau (16 variants)
- Inborn_genetic_diseases (12 variants)
- IL36RN-related_disorder (6 variants)
- Deficiency_of_the_interleukin-36_receptor_antagonist (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL36RN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012275.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 35 | 36 | ||||
| missense | 58 | 67 | ||||
| nonsense | 3 | |||||
| start loss | 0 | |||||
| frameshift | 7 | |||||
| splice donor/acceptor (+/-2bp) | 4 | |||||
| Total | 7 | 7 | 63 | 40 | 0 |
Highest pathogenic variant AF is 0.0033623201
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IL36RN | protein_coding | protein_coding | ENST00000393200 | 4 | 6745 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.39e-8 | 0.0539 | 125730 | 0 | 18 | 125748 | 0.0000716 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.427 | 100 | 88.7 | 1.13 | 0.00000535 | 996 |
| Missense in Polyphen | 37 | 33.921 | 1.0908 | 396 | ||
| Synonymous | -0.101 | 41 | 40.2 | 1.02 | 0.00000271 | 318 |
| Loss of Function | -0.858 | 10 | 7.47 | 1.34 | 4.08e-7 | 78 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000616 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000880 | 0.0000879 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.000131 | 0.000131 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor. Proposed to play a role in skin inflammation. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. May activate an anti-inflammatory signaling pathway by recruiting SIGIRR. {ECO:0000269|PubMed:11466363, ECO:0000269|PubMed:21965679, ECO:0000269|PubMed:23147407}.;
- Disease
- DISEASE: Psoriasis 14, pustular (PSORS14) [MIM:614204]: A life- threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein. {ECO:0000269|PubMed:21839423, ECO:0000269|PubMed:21848462, ECO:0000269|PubMed:22903787}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System;Interleukin-36 pathway;Interleukin-1 family signaling
(Consensus)
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- loftool
- rvis_EVS
- 0.04
- rvis_percentile_EVS
- 56.92
Haploinsufficiency Scores
- pHI
- 0.152
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.531
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il1f5
- Phenotype
- homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region 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; immune system phenotype; normal 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);
Gene ontology
- Biological process
- negative regulation of cytokine-mediated signaling pathway;inflammatory response;regulation of signaling receptor activity;cytokine-mediated signaling pathway;antifungal humoral response;neutrophil chemotaxis;negative regulation of interleukin-17 production;negative regulation of interleukin-6 production;positive regulation of interleukin-6 production;positive regulation of I-kappaB kinase/NF-kappaB signaling;innate immune response;positive regulation of JNK cascade;cellular response to lipopolysaccharide;negative regulation of interferon-gamma secretion
- Cellular component
- extracellular region;extracellular space
- Molecular function
- cytokine activity;interleukin-1 receptor binding;interleukin-1 receptor antagonist activity;protein binding