IL36B

interleukin 36 beta, the group of Interleukins

Basic information

Region (hg38): 2:113022088-113052867

Previous symbols: [ "IL1F8" ]

Links

ENSG00000136696 ∙ NCBI:27177 ∙ OMIM:605508 ∙ HGNC:15564 ∙ Uniprot:Q9NZH7 ∙ 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 IL36B gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL36B 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						0
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in IL36B

This is a list of pathogenic ClinVar variants found in the IL36B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-113022702-G-A		not specified	Uncertain significance (Jan 31, 2023)
2-113022705-C-T		not specified	Uncertain significance (Nov 17, 2022)
2-113026101-A-G		High myopia	Uncertain significance (Dec 17, 2018)
2-113028946-T-C		not specified	Uncertain significance (Jul 25, 2023)
2-113028963-C-G		not specified	Uncertain significance (Jul 15, 2021)
2-113028992-C-T		not specified	Likely benign (Oct 25, 2023)
2-113031108-C-T		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL36B	protein_coding	protein_coding	ENST00000259213	5	30777

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00330	0.841	125673	0	68	125741	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.186	96	91.0	1.05	0.00000444	1089
Missense in Polyphen		15	17.361	0.86402		231
Synonymous	1.16	19	26.6	0.713	0.00000114	284
Loss of Function	1.18	5	8.78	0.569	5.38e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000246
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000325	0.000323
European (Non-Finnish)	0.000485	0.000475
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. 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 IL1RAP. Stimulates production of interleukin-6 and interleukin-8 in synovial fibrobasts, articular chondrocytes and mature adipocytes. Induces expression of a number of antimicrobial peptides including beta-defensins 4 and 103 as well as a number of matrix metalloproteases. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of proinflammatory cytokines such as TNF-alpha, IL- 8 and IL-6. {ECO:0000269|PubMed:16646978, ECO:0000269|PubMed:20300079, ECO:0000269|PubMed:21242515, ECO:0000269|PubMed:21881584, ECO:0000269|PubMed:21965679, ECO:0000269|PubMed:24829417}.
• Pathway: Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System;Interleukin-36 pathway;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.0794

Intolerance Scores

• rvis_EVS: 0.39
• rvis_percentile_EVS: 76.05

Haploinsufficiency Scores

• pHI: 0.0504
• hipred: N
• hipred_score: 0.180
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• 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: Il1f8

Gene ontology

• Biological process: inflammatory response;immune response;regulation of signaling receptor activity;cytokine-mediated signaling pathway;neutrophil chemotaxis;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
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;interleukin-1 receptor binding