IL32

interleukin 32, the group of Interleukins

Basic information

Region (hg38): 16:3065296-3082192

Links

ENSG00000008517 ∙ NCBI:9235 ∙ OMIM:606001 ∙ HGNC:16830 ∙ Uniprot:P24001 ∙ 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 IL32 gene.

• Inborn genetic diseases (13 variants)
• not provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL32 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			13	1	5	19
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	2	3
non coding				1		1
Total	0	0	13	3	6

Variants in IL32

This is a list of pathogenic ClinVar variants found in the IL32 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3067372-C-T			Likely benign (Mar 29, 2018)
16-3067373-G-A			Benign (Jul 26, 2018)
16-3067377-G-A			Benign (Jul 21, 2018)
16-3067422-C-CT			Likely benign (May 14, 2018)
16-3067563-A-C			Benign (Jun 29, 2018)
16-3067567-A-G		not specified	Uncertain significance (Jun 09, 2022)
16-3067569-A-G			Benign (Jun 29, 2018)
16-3067575-T-C		not specified	Uncertain significance (May 05, 2022)
16-3067576-A-G			Benign (Jun 29, 2018)
16-3067605-C-T		not specified	Uncertain significance (Dec 06, 2023)
16-3067606-G-A			Likely benign (Jul 31, 2018)
16-3067992-G-A			Benign (Aug 01, 2018)
16-3067997-T-C		not specified	Uncertain significance (Oct 06, 2021)
16-3068004-G-C		not specified	Uncertain significance (Jan 21, 2022)
16-3068170-C-T			Likely benign (Jul 05, 2018)
16-3068223-A-C		not specified	Uncertain significance (Sep 12, 2023)
16-3068238-C-T			Benign (Jul 06, 2018)
16-3068239-A-G			Benign (Jul 31, 2018)
16-3068996-A-G		not specified	Uncertain significance (May 31, 2023)
16-3069086-C-A		not specified	Uncertain significance (Jan 24, 2023)
16-3069090-G-T		not specified	Uncertain significance (May 25, 2022)
16-3069114-T-G		not specified	Uncertain significance (Oct 25, 2022)
16-3069170-G-C		not specified	Uncertain significance (Jan 08, 2024)
16-3069245-T-C		not specified	Uncertain significance (Nov 17, 2022)
16-3069261-T-C		not specified	Uncertain significance (Jun 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL32	protein_coding	protein_coding	ENST00000525643	6	16611

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.75e-9	0.0286	125707	0	37	125744	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.35	165	99.2	1.66	0.00000538	1181
Missense in Polyphen		32	20.669	1.5482		252
Synonymous	-2.70	59	37.8	1.56	0.00000220	323
Loss of Function	-1.11	11	7.68	1.43	4.11e-7	82

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000849	0.000753
Ashkenazi Jewish	0.00	0.00
East Asian	0.000653	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000653	0.000653
South Asian	0.000214	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF- alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK. {ECO:0000269|PubMed:15664165}.
• Pathway: Other interleukin signaling;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System (Consensus)

Intolerance Scores

• loftool: 0.999
• rvis_EVS: 1.55
• rvis_percentile_EVS: 95.62

Haploinsufficiency Scores

• pHI: 0.0553
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.135

Gene Damage Prediction

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

Gene ontology

• Biological process: defense response;immune response;cell adhesion;regulation of signaling receptor activity;cytokine-mediated signaling pathway
• Cellular component: extracellular space;cytosol;membrane
• Molecular function: cytokine activity;protein binding