IL24

interleukin 24, the group of Interleukins

Basic information

Region (hg38): 1:206897442-206904139

Previous symbols: [ "ST16" ]

Links

ENSG00000162892 ∙ NCBI:11009 ∙ OMIM:604136 ∙ HGNC:11346 ∙ Uniprot:Q13007 ∙ 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 IL24 gene.

• not provided (4 variants)
• Inborn genetic diseases (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL24 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			3		3	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	3	0	5

Variants in IL24

This is a list of pathogenic ClinVar variants found in the IL24 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-206897861-T-C			Benign (Jul 13, 2018)
1-206897862-G-T			Benign (May 29, 2018)
1-206899614-C-T		not specified	Benign (Jan 24, 2024)
1-206900318-T-G		not specified	Uncertain significance (Jul 13, 2021)
1-206900364-A-G			Benign (Mar 30, 2018)
1-206901560-T-C		not specified	Benign (Jan 24, 2024)
1-206902007-G-A		not specified	Uncertain significance (Mar 28, 2023)
1-206902047-T-G		not specified	Uncertain significance (Nov 27, 2023)
1-206902976-T-G			Benign (Dec 09, 2017)
1-206903031-C-T		not specified	Uncertain significance (Mar 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL24	protein_coding	protein_coding	ENST00000391929	6	6697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.88e-7	0.261	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.407	96	108	0.890	0.00000556	1351
Missense in Polyphen		33	28.049	1.1765		403
Synonymous	0.701	38	43.9	0.865	0.00000228	401
Loss of Function	0.245	10	10.9	0.920	4.65e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000653	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.0000283	0.0000264
Middle Eastern	0.000653	0.000653
South Asian	0.000261	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antiproliferative properties on melanoma cells and may contribute to terminal cell differentiation.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Senescence and Autophagy in Cancer;Signaling by Interleukins;Cytokine Signaling in Immune system;Interleukin-20 family signaling;Immune System;IL23-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.223

Intolerance Scores

• loftool: 0.564
• rvis_EVS: 0.88
• rvis_percentile_EVS: 89.02

Haploinsufficiency Scores

• pHI: 0.0754
• hipred: N
• hipred_score: 0.112
• ghis: 0.426

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il24
• Phenotype: hematopoietic system phenotype

Gene ontology

• Biological process: apoptotic process;positive regulation of cell population proliferation;negative regulation of cell population proliferation;regulation of signaling receptor activity;cytokine-mediated signaling pathway;negative regulation of cell migration;wound healing;serine phosphorylation of STAT protein;positive regulation of tyrosine phosphorylation of STAT protein;cellular response to lipopolysaccharide;cellular response to interleukin-4
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;protein binding