IL17D

interleukin 17D, the group of Interleukins

Basic information

Region (hg38): 13:20702127-20723098

Links

ENSG00000172458 ∙ NCBI:53342 ∙ OMIM:607587 ∙ HGNC:5984 ∙ Uniprot:Q8TAD2 ∙ 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 IL17D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17D 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	1	3
missense			17		1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	2

Variants in IL17D

This is a list of pathogenic ClinVar variants found in the IL17D region.

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

Position	Type	Phenotype	Significance	ClinVar
13-20704077-G-A		not specified	Uncertain significance (Nov 10, 2022)
13-20704078-C-T		not specified	Uncertain significance (Apr 22, 2022)
13-20704081-G-C		not specified	Uncertain significance (Mar 28, 2023)
13-20704113-C-T			Likely benign (May 14, 2018)
13-20704149-G-A		not specified	Uncertain significance (Feb 13, 2023)
13-20704197-G-C		not specified	Uncertain significance (Nov 10, 2022)
13-20704213-G-C		not specified	Uncertain significance (Dec 15, 2023)
13-20704239-C-T		not specified	Uncertain significance (Jan 04, 2024)
13-20704255-C-T		not specified	Uncertain significance (Mar 02, 2023)
13-20704281-T-C		not specified	Uncertain significance (Aug 09, 2021)
13-20721646-G-C		not specified	Uncertain significance (Apr 17, 2023)
13-20721658-T-C		not specified	Uncertain significance (Jun 16, 2023)
13-20721684-C-T			Likely benign (Feb 26, 2018)
13-20721706-A-G		not specified	Uncertain significance (Dec 16, 2023)
13-20721711-G-C			Benign (Jun 30, 2017)
13-20721730-G-A		not specified	Uncertain significance (Apr 19, 2023)
13-20721782-C-G		not specified	Uncertain significance (Oct 27, 2023)
13-20721897-C-G			Benign (Apr 03, 2018)
13-20721898-G-C		not specified	Uncertain significance (Aug 04, 2021)
13-20721910-G-A		not specified	Uncertain significance (May 05, 2023)
13-20721916-C-G		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17D	protein_coding	protein_coding	ENST00000304920	2	20972

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.198	0.659	123593	0	11	123604	0.0000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.261	80	73.7	1.09	0.00000338	1243
Missense in Polyphen		39	30.477	1.2796		395
Synonymous	-0.556	40	35.8	1.12	0.00000177	469
Loss of Function	0.976	1	2.74	0.364	1.17e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000873	0.0000873
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000549
Finnish	0.00	0.00
European (Non-Finnish)	0.0000561	0.0000545
Middle Eastern	0.0000557	0.0000549
South Asian	0.00	0.00
Other	0.000342	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells. {ECO:0000269|PubMed:12097364}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway (Consensus)

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.252
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il17d

Gene ontology

• Biological process: inflammatory response;regulation of signaling receptor activity;positive regulation of granulocyte macrophage colony-stimulating factor production;positive regulation of interleukin-6 production;positive regulation of interleukin-8 production;positive regulation of cytokine production involved in inflammatory response;negative regulation of hemopoiesis
• Cellular component: extracellular space
• Molecular function: cytokine activity;protein homodimerization activity;receptor ligand activity