IL33

interleukin 33, the group of Interleukins

Basic information

Region (hg38): 9:6215785-6257983

Previous symbols: [ "C9orf26" ]

Links

ENSG00000137033 ∙ NCBI:90865 ∙ OMIM:608678 ∙ HGNC:16028 ∙ Uniprot:O95760 ∙ 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 IL33 gene.

• Inborn genetic diseases (9 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL33 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					2	2
missense			8	1	3	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	8	1	6

Variants in IL33

This is a list of pathogenic ClinVar variants found in the IL33 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-6241704-A-G		not specified	Uncertain significance (May 10, 2022)
9-6241737-G-A		not specified	Uncertain significance (Jan 10, 2022)
9-6241741-A-G		not specified	Uncertain significance (Mar 08, 2024)
9-6242950-C-T			Benign (Feb 18, 2020)
9-6250524-C-T		not specified	Uncertain significance (Jan 17, 2023)
9-6250532-C-A			Benign (Feb 07, 2018)
9-6250546-A-G		not specified	Uncertain significance (Oct 29, 2021)
9-6251166-C-T		not specified	Likely benign (May 05, 2023)
9-6251188-C-T		not specified	Uncertain significance (Jan 31, 2024)
9-6251195-G-C			Benign (Aug 14, 2018)
9-6251218-C-T		not specified	Uncertain significance (Oct 27, 2022)
9-6252979-G-T			Benign (Feb 25, 2018)
9-6253553-T-G		not specified	Uncertain significance (Dec 20, 2023)
9-6253560-T-A		not specified	Uncertain significance (Jan 23, 2024)
9-6254477-G-C		not specified	Uncertain significance (Feb 02, 2024)
9-6254512-G-C		not specified	Uncertain significance (Feb 12, 2024)
9-6254544-C-G			Benign (Jun 21, 2018)
9-6254551-G-A		not specified	Uncertain significance (May 17, 2023)
9-6256067-G-A		Malignant tumor of prostate	Uncertain significance (-)
9-6256112-G-C		not specified	Uncertain significance (Feb 22, 2023)
9-6256144-C-G			Benign (Jun 12, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL33	protein_coding	protein_coding	ENST00000381434	7	42179

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.29e-10	0.0434	125083	1	628	125712	0.00250

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.03	168	134	1.25	0.00000601	1785
Missense in Polyphen		44	35.653	1.2341		504
Synonymous	-0.755	52	45.5	1.14	0.00000212	462
Loss of Function	-0.454	13	11.3	1.15	4.73e-7	168

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00166	0.00166
Ashkenazi Jewish	0.000301	0.000298
East Asian	0.00	0.00
Finnish	0.00185	0.00185
European (Non-Finnish)	0.00438	0.00435
Middle Eastern	0.00	0.00
South Asian	0.00111	0.00111
Other	0.00197	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells (PubMed:16286016). Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an "alarmin", that amplifies immune responses during tissue injury (PubMed:17853410, PubMed:18836528). {ECO:0000269|PubMed:16286016, ECO:0000269|PubMed:17853410, ECO:0000269|PubMed:18836528}.
• Pathway: Influenza A - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);Necroptosis - Homo sapiens (human);Development and heterogeneity of the ILC family;Signal Transduction;Signaling by Interleukins;Cytokine Signaling in Immune system;Post-translational protein modification;Metabolism of proteins;Immune System;Ub-specific processing proteases;PIP3 activates AKT signaling;Deubiquitination;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Intracellular signaling by second messengers;Interleukin-33 signaling;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.866
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.96

Haploinsufficiency Scores

• pHI: 0.0515
• hipred: N
• hipred_score: 0.146
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0638

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Il33
• 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); endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; respiratory 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); reproductive system phenotype; hematopoietic system phenotype; digestive/alimentary phenotype; immune system phenotype

Gene ontology

• Biological process: microglial cell activation involved in immune response;negative regulation of leukocyte migration;negative regulation of T-helper 1 type immune response;positive regulation of type 2 immune response;regulation of signaling receptor activity;protein deubiquitination;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;negative regulation of interferon-gamma production;positive regulation of interleukin-13 production;positive regulation of interleukin-4 production;positive regulation of interleukin-5 production;positive regulation of interleukin-6 production;interleukin-33-mediated signaling pathway;positive regulation of macrophage activation;positive regulation of transcription by RNA polymerase II;positive regulation of inflammatory response;positive regulation of immunoglobulin secretion;negative regulation of immunoglobulin secretion;defense response to virus;microglial cell proliferation;positive regulation of chemokine secretion;extrinsic apoptotic signaling pathway;positive regulation of neuroinflammatory response
• Cellular component: extracellular region;extracellular space;nucleoplasm;chromosome;transport vesicle
• Molecular function: cytokine activity;protein binding