IL17F

interleukin 17F, the group of Interleukins

Basic information

Region (hg38): 6:52236680-52245689

Links

ENSG00000112116 ∙ NCBI:112744 ∙ OMIM:606496 ∙ HGNC:16404 ∙ Uniprot:Q96PD4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• chronic mucocutaneous candidiasis (Supportive), mode of inheritance: AD
• candidiasis, familial, 6 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Candidiasis, familial, 6	AD	Allergy/Immunology/Infectious	Individuals may manifest with chronic cutaneous candidiasis, and awareness may allow early detection and aggressive treatment of infections may be beneficial	Allergy/Immunology/Infectious	21350122

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL17F gene.

• Candidiasis, familial, 6 (113 variants)
• not provided (11 variants)
• Inborn genetic diseases (10 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17F 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				23	2	25
missense			62	1	3	66
nonsense			1			1
start loss			1			1
frameshift			1	1		2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	3		5
non coding			2	3	9	14
Total	0	0	67	28	14

Variants in IL17F

This is a list of pathogenic ClinVar variants found in the IL17F region.

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

Position	Type	Phenotype	Significance	ClinVar
6-52236688-A-C		Candidiasis, familial, 6	Benign (Jun 21, 2021)
6-52236795-T-C		Candidiasis, familial, 6	Benign (Jan 12, 2018)
6-52236808-G-A		Candidiasis, familial, 6	Benign (Jan 13, 2018)
6-52236934-C-G		Candidiasis, familial, 6	Uncertain significance (Nov 03, 2019)
6-52236935-T-C		Candidiasis, familial, 6	Uncertain significance (Jul 30, 2022)
6-52236940-A-G		Candidiasis, familial, 6	Likely benign (Mar 08, 2023)
6-52236941-T-C		Candidiasis, familial, 6	Benign (Jan 31, 2024)
6-52236944-T-C		not specified	Likely benign (Jan 04, 2022)
6-52236946-G-T		Candidiasis, familial, 6	Likely benign (Dec 22, 2023)
6-52236954-G-A		Candidiasis, familial, 6 • not specified	Uncertain significance (Feb 10, 2022)
6-52236954-G-C		Candidiasis, familial, 6	Uncertain significance (Jul 06, 2022)
6-52236960-C-T		Candidiasis, familial, 6 • IL17F-related disorder	Benign (Jan 31, 2024)
6-52236961-G-A		Candidiasis, familial, 6	Likely benign (Sep 24, 2023)
6-52236964-G-A		Candidiasis, familial, 6	Likely benign (Apr 11, 2022)
6-52236965-G-A		Candidiasis, familial, 6	Uncertain significance (Jul 06, 2022)
6-52236967-G-A		Candidiasis, familial, 6	Conflicting classifications of pathogenicity (Jul 14, 2022)
6-52236976-A-T		Candidiasis, familial, 6	Likely benign (Aug 09, 2022)
6-52236986-A-C		Candidiasis, familial, 6	Uncertain significance (Aug 25, 2020)
6-52236995-A-C		Candidiasis, familial, 6	Uncertain significance (Jul 11, 2022)
6-52236996-A-G		Candidiasis, familial, 6	Conflicting classifications of pathogenicity (Apr 30, 2023)
6-52237008-CAG-C		Candidiasis, familial, 6	Likely benign (Jan 29, 2024)
6-52237010-G-C		Candidiasis, familial, 6	Uncertain significance (Dec 13, 2019)
6-52237012-G-A		Candidiasis, familial, 6	Likely benign (Dec 19, 2023)
6-52237019-T-C		Candidiasis, familial, 6	Uncertain significance (Mar 20, 2023)
6-52237020-G-C		Candidiasis, familial, 6	Uncertain significance (May 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17F	protein_coding	protein_coding	ENST00000336123	3	7857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0392	0.849	125346	1	390	125737	0.00156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.160	103	98.5	1.05	0.00000612	1057
Missense in Polyphen		33	29.148	1.1321		318
Synonymous	-2.00	56	39.9	1.40	0.00000247	334
Loss of Function	1.29	3	6.55	0.458	3.78e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00174	0.00174
Ashkenazi Jewish	0.00	0.00
East Asian	0.0138	0.0139
Finnish	0.000509	0.000508
European (Non-Finnish)	0.000238	0.000237
Middle Eastern	0.0138	0.0139
South Asian	0.00147	0.00144
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ligand for IL17RA and IL17RC (PubMed:17911633). The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC (PubMed:18684971). Involved in stimulating the production of other cytokines such as IL6, IL8 and CSF2, and in regulation of cartilage matrix turnover (PubMed:11591732, PubMed:11591768, PubMed:11574464). Also involved in stimulating the proliferation of peripheral blood mononuclear cells and T-cells and in inhibition of angiogenesis (PubMed:11591732). Plays a role in the induction of neutrophilia in the lungs and in the exacerbation of antigen-induced pulmonary allergic inflammation (By similarity). {ECO:0000250|UniProtKB:Q7TNI7, ECO:0000269|PubMed:11574464, ECO:0000269|PubMed:11591732, ECO:0000269|PubMed:11591768, ECO:0000269|PubMed:17911633, ECO:0000269|PubMed:18684971}.
• Pathway: Inflammatory bowel disease (IBD) - 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;Interleukin-4 and 13 signaling;IL23-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.384

Intolerance Scores

• loftool: 0.587
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.23

Haploinsufficiency Scores

• pHI: 0.0767
• hipred: N
• hipred_score: 0.112
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0569

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il17f
• Phenotype: growth/size/body region phenotype; craniofacial phenotype; skeleton phenotype; respiratory system phenotype; hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; immune system phenotype

Gene ontology

• Biological process: inflammatory response;regulation of signaling receptor activity;negative regulation of angiogenesis;regulation of transforming growth factor beta receptor signaling pathway;cytokine-mediated signaling pathway;cytokine biosynthetic process;lymphotoxin A biosynthetic process;regulation of interleukin-2 biosynthetic process;regulation of interleukin-6 biosynthetic process;regulation of interleukin-8 biosynthetic process;regulation of granulocyte macrophage colony-stimulating factor biosynthetic process;positive regulation of transcription by RNA polymerase II;cartilage development;interleukin-17-mediated signaling pathway;positive regulation of cytokine production involved in inflammatory response;positive regulation of interleukin-6 secretion
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;cytokine receptor binding;protein binding;cytokine binding;protein homodimerization activity