IL37

interleukin 37, the group of Interleukins

Basic information

Region (hg38): 2:112911164-112918882

Previous symbols: [ "IL1F7" ]

Links

ENSG00000125571 ∙ NCBI:27178 ∙ OMIM:605510 ∙ HGNC:15563 ∙ Uniprot:Q9NZH6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive	AR	Allergy/Immunology/Infectious; Gastrointestinal	The condition can manifest with inflammatory bowel disease, and medical management (eg, with mesalamine, corticosteroids, and azathioprine) have been described as being beneficial	Allergy/Immunology/Infectious; Gastrointestinal	33674380

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL37 gene.

• not provided (6 variants)
• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL37 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				1		1
missense			4		2	6
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	4	2	2

Variants in IL37

This is a list of pathogenic ClinVar variants found in the IL37 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-112913015-G-A		Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive	Uncertain significance (Mar 26, 2024)
2-112913816-C-A		not specified	Uncertain significance (Sep 22, 2022)
2-112913833-A-G			Benign (Feb 18, 2020)
2-112913842-T-A			Uncertain significance (Dec 01, 2022)
2-112917153-C-G		not specified	Uncertain significance (Feb 02, 2022)
2-112917153-C-T		not specified	Uncertain significance (Jan 23, 2024)
2-112917165-G-T		not specified	Uncertain significance (Sep 27, 2022)
2-112917179-G-T		not specified	Uncertain significance (Feb 06, 2024)
2-112917184-C-G		not specified	Likely benign (Jan 17, 2024)
2-112917200-G-A		not specified	Uncertain significance (Dec 17, 2023)
2-112917210-A-G		not specified	Uncertain significance (Jan 10, 2022)
2-112917242-C-T		not specified	Uncertain significance (Oct 16, 2023)
2-112917258-A-C			Likely benign (Jan 08, 2018)
2-112917671-C-A		not specified	Uncertain significance (Oct 17, 2023)
2-112917677-C-T		not specified	Conflicting classifications of pathogenicity (Feb 01, 2023)
2-112917681-G-A			Likely benign (Mar 01, 2022)
2-112918606-C-T			Benign (Jul 04, 2018)
2-112918682-T-C		Inflammatory bowel disease	Pathogenic (Jun 23, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL37	protein_coding	protein_coding	ENST00000263326	5	5912

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000123	0.405	125728	0	8	125736	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0421	119	118	1.01	0.00000593	1438
Missense in Polyphen		26	24.045	1.0813		347
Synonymous	-0.679	53	47.1	1.13	0.00000268	402
Loss of Function	0.131	6	6.36	0.944	2.65e-7	91

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation. This function requires SMAD3. Suppresses, or reduces, proinflammatory cytokine production, including IL1A and IL6, as well as CCL12, CSF1, CSF2, CXCL13, IL1B, IL23A and IL1RN, but spares anti-inflammatory cytokines. Inhibits dendritic cell activation. {ECO:0000269|PubMed:18390730, ECO:0000269|PubMed:20935647}.
• Pathway: Signaling by Interleukins;Cytokine Signaling in Immune system;Interleukin-18 signaling;Immune System;Interleukin-37 signaling;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.0767

Intolerance Scores

• rvis_EVS: 1.62
• rvis_percentile_EVS: 95.96

Haploinsufficiency Scores

• pHI: 0.0382
• hipred: N
• hipred_score: 0.317

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

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;positive regulation of JNK cascade;cellular response to lipopolysaccharide;cellular response to cytokine stimulus
• Cellular component: extracellular region;extracellular space;nucleoplasm;cytosol;intracellular membrane-bounded organelle
• Molecular function: cytokine activity;interleukin-1 receptor binding