IL36G

interleukin 36 gamma, the group of Interleukins

Basic information

Region (hg38): 2:112973203-112985658

Previous symbols: [ "IL1F9" ]

Links

ENSG00000136688 ∙ NCBI:56300 ∙ OMIM:605542 ∙ HGNC:15741 ∙ Uniprot:Q9NZH8 ∙ 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 IL36G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL36G 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in IL36G

This is a list of pathogenic ClinVar variants found in the IL36G region.

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

Position	Type	Phenotype	Significance	ClinVar
2-112978676-G-C		not specified	Uncertain significance (Oct 01, 2024)
2-112978681-G-T		not specified	Uncertain significance (Sep 26, 2024)
2-112979257-A-C		not specified	Uncertain significance (Jun 01, 2023)
2-112979305-G-A		not specified	Uncertain significance (Feb 27, 2023)
2-112980026-A-G		not specified	Uncertain significance (Jun 09, 2022)
2-112980030-G-T		not specified	Uncertain significance (Nov 27, 2024)
2-112980032-A-G		not specified	Uncertain significance (Jul 06, 2021)
2-112980050-G-A		not specified	Uncertain significance (Dec 16, 2024)
2-112980065-G-A		not specified	Uncertain significance (Nov 08, 2022)
2-112980107-T-C		not specified	Uncertain significance (Oct 06, 2022)
2-112980128-C-G		not specified	Uncertain significance (Oct 16, 2024)
2-112984879-G-A		not specified	Uncertain significance (Aug 12, 2021)
2-112984900-C-T		not specified	Uncertain significance (Mar 28, 2023)
2-112984946-C-T		not specified	Uncertain significance (Jan 21, 2025)
2-112984958-T-C		not specified	Uncertain significance (Dec 12, 2023)
2-112984994-C-A		not specified	Uncertain significance (Dec 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL36G	protein_coding	protein_coding	ENST00000259205	4	12463

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000118	0.397	125693	0	9	125702	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.407	82	93.0	0.881	0.00000460	1091
Missense in Polyphen		29	32.393	0.89525		415
Synonymous	-1.24	45	35.6	1.27	0.00000197	331
Loss of Function	0.107	6	6.29	0.954	3.39e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000619	0.0000616
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

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. 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. 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; also stimulates its own expression and that of the prototypic cutaneous proinflammatory parameters TNF-alpha, S100A7/psoriasin and inducible NOS. May play a role in proinflammatory responses during particular neutrophilic airway inflammation: activates mitogen-activated protein kinases and NF-kappa B in primary lung fibroblasts, and stimulates the expression of IL-8 and CXCL3 and Th17 chemokine CCL20 in lung fibroblasts. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. {ECO:0000269|PubMed:11466363, ECO:0000269|PubMed:20870894, ECO:0000269|PubMed:21965679, ECO:0000269|PubMed:23095752, ECO:0000269|PubMed:23147407, ECO:0000269|PubMed:24829417}.
• Pathway: JAK-STAT-Core;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System;Interleukin-36 pathway;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.0840

Intolerance Scores

• rvis_EVS: 0.3
• rvis_percentile_EVS: 72.01

Haploinsufficiency Scores

• pHI: 0.0471
• hipred: N
• hipred_score: 0.112
• ghis: 0.394

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: Il1f9

Gene ontology

• Biological process: inflammatory response;cell-cell signaling;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