GeneBe

IL17F

interleukin 17F, the group of Interleukins

Basic information

Region (hg38): 6:52236681-52245689

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

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Candidiasis, familial, 6ADAllergy/Immunology/InfectiousIndividuals may manifest with chronic cutaneous candidiasis, and awareness may allow early detection and aggressive treatment of infections may be beneficialAllergy/Immunology/Infectious21350122

ClinVar

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

  • Candidiasis,_familial,_6 (140 variants)
  • not_specified (24 variants)
  • not_provided (4 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. These statistics are base on transcript: NM_000052872.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
38
clinvar
2
clinvar
 40
missense
82
clinvar
5
clinvar
 87
nonsense
1
clinvar
 1
start loss
1
 1
frameshift
1
clinvar
1
clinvar
 2
splice donor/acceptor (+/-2bp)
1
clinvar
2
clinvar
 3
Total 0 0 86 46 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL17Fprotein_codingprotein_codingENST00000336123 37857
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.03920.84912534613901257370.00156
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.16010398.51.050.000006121057
Missense in Polyphen3329.1481.1321318
Synonymous-2.005639.91.400.00000247334
Loss of Function1.2936.550.4583.78e-767

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001740.00174
Ashkenazi Jewish0.000.00
East Asian0.01380.0139
Finnish0.0005090.000508
European (Non-Finnish)0.0002380.000237
Middle Eastern0.01380.0139
South Asian0.001470.00144
Other0.0009780.000978

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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