IL26

interleukin 26, the group of Interleukins

Basic information

Region (hg38): 12:68201349-68225810

Links

ENSG00000111536 ∙ NCBI:55801 ∙ OMIM:605679 ∙ HGNC:17119 ∙ Uniprot:Q9NPH9 ∙ 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 IL26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL26 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	1

Variants in IL26

This is a list of pathogenic ClinVar variants found in the IL26 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-68202043-G-A		not specified	Uncertain significance (Jun 03, 2022)
12-68202043-G-T		not specified	Uncertain significance (Mar 30, 2024)
12-68202064-G-C		not specified	Uncertain significance (Aug 08, 2023)
12-68225173-G-T		not specified	Uncertain significance (May 05, 2023)
12-68225210-C-G		not specified	Uncertain significance (Jun 02, 2023)
12-68225216-A-G		not specified	Uncertain significance (Oct 06, 2021)
12-68225228-C-G		not specified	Uncertain significance (Feb 28, 2024)
12-68225267-T-C		not specified	Uncertain significance (Mar 17, 2023)
12-68225475-A-G		not specified	Uncertain significance (Nov 15, 2021)
12-68225483-A-C		not specified	Uncertain significance (Aug 16, 2021)
12-68225500-C-T		not specified	Uncertain significance (Oct 17, 2023)
12-68225596-G-A		not specified	Uncertain significance (Jan 16, 2024)
12-68225596-G-T		not specified	Uncertain significance (Jul 09, 2021)
12-68225660-A-G		not specified	Uncertain significance (Feb 16, 2023)
12-68225670-G-A			Benign (Dec 31, 2019)
12-68225692-T-G		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL26	protein_coding	protein_coding	ENST00000229134	5	24471

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000535	0.713	125677	0	21	125698	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.362	95	85.6	1.11	0.00000432	1126
Missense in Polyphen		18	19.972	0.90126		292
Synonymous	0.458	28	31.3	0.896	0.00000161	298
Loss of Function	0.867	6	8.77	0.684	4.65e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000909	0.0000907
Ashkenazi Jewish	0.000401	0.000397
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000797	0.0000792
Middle Eastern	0.0000548	0.0000544
South Asian	0.000134	0.000131
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin. {ECO:0000269|PubMed:14764663, ECO:0000269|PubMed:15178681, ECO:0000269|PubMed:18483078}.
• Pathway: Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Signaling by Interleukins;Cytokine Signaling in Immune system;Interleukin-20 family signaling;Immune System (Consensus)

Recessive Scores

• pRec: 0.169

Intolerance Scores

• loftool: 0.529
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.415
• hipred: N
• hipred_score: 0.123
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

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

Gene ontology

• Biological process: cell-cell signaling;regulation of signaling receptor activity;cytokine-mediated signaling pathway;positive regulation of stress-activated MAPK cascade;positive regulation of transcription by RNA polymerase II;positive regulation of JAK-STAT cascade;negative regulation of epithelial cell proliferation;positive regulation of cytokine secretion;positive regulation of protein kinase B signaling;positive regulation of ERK1 and ERK2 cascade
• Cellular component: extracellular region;extracellular space;cytosol
• Molecular function: cytokine activity