IL36A

interleukin 36 alpha, the group of Interleukins

Basic information

Region (hg38): 2:113005459-113008044

Previous symbols: [ "IL1F6" ]

Links

ENSG00000136694 ∙ NCBI:27179 ∙ OMIM:605509 ∙ HGNC:15562 ∙ Uniprot:Q9UHA7 ∙ 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 IL36A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL36A 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in IL36A

This is a list of pathogenic ClinVar variants found in the IL36A region.

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

Position	Type	Phenotype	Significance	ClinVar
2-113006012-G-T		not specified	Uncertain significance (May 05, 2022)
2-113006025-G-T		not specified	Uncertain significance (Dec 05, 2024)
2-113006027-G-T		not specified	Uncertain significance (Jan 02, 2024)
2-113006064-C-T		not specified	Uncertain significance (Sep 09, 2021)
2-113006076-G-A		not specified	Uncertain significance (Jul 19, 2023)
2-113006603-A-G		not specified	Likely benign (May 18, 2023)
2-113006634-C-A		not specified	Uncertain significance (Feb 15, 2023)
2-113006666-C-A		not specified	Uncertain significance (Dec 22, 2024)
2-113006685-A-G		not specified	Uncertain significance (Mar 29, 2024)
2-113006687-C-G		not specified	Uncertain significance (Oct 25, 2023)
2-113006724-C-T		not specified	Uncertain significance (Feb 05, 2024)
2-113007861-A-T		not specified	Uncertain significance (Feb 24, 2025)
2-113007865-G-C		not specified	Uncertain significance (Jan 19, 2025)
2-113007889-T-A		not specified	Uncertain significance (Dec 02, 2022)
2-113007907-A-G		not specified	Uncertain significance (Sep 08, 2024)
2-113007922-G-C		not specified	Uncertain significance (Dec 26, 2023)
2-113008013-C-T		not specified	Uncertain significance (Feb 23, 2023)
2-113008016-C-G		not specified	Uncertain significance (Oct 03, 2024)
2-113008020-C-A		not specified	Uncertain significance (May 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL36A	protein_coding	protein_coding	ENST00000259211	4	2584

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0298	0.819	124783	0	10	124793	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.294	95	87.3	1.09	0.00000458	1035
Missense in Polyphen		23	23.028	0.99879		295
Synonymous	0.103	33	33.8	0.977	0.00000185	303
Loss of Function	1.11	3	5.92	0.507	3.38e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000265
Middle Eastern	0.000111	0.000111
South Asian	0.000163	0.000163
Other	0.00	0.00

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. 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. In cultured monocytes upregulates expression of IL-1A, IL-1B and IL-6. In myeloid dendritic cells involved in cell maturation by upregulating surface expression of CD83, CD86 and HLA-DR. In monocyte-derived dendritic cells facilitates dendritic cell maturation and drives T-cell proliferation. May play a role in proinflammatory effects in the lung. {ECO:0000269|PubMed:14734551, 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: 0.0951

Intolerance Scores

• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.48

Haploinsufficiency Scores

• pHI: 0.0678
• hipred: N
• hipred_score: 0.112

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: Il1f6

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