IL17F
protein-codinginterleukin 17F, the group of Interleukins
Gene summary
The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0015279
Submitter: Orphanet
Inheritance Pattern: Unknown
Disease ID:MONDO:0013503
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0013503
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Allergy/Immunology/Infectious
Intervention: Allergy/Immunology/Infectious
Rationale: Individuals may manifest with chronic cutaneous candidiasis, and awareness may allow early detection and aggressive treatment of infections may be beneficial
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IL17F variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_052872.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 46 | 46 | ||||
| missense | 88 | 7 | 95 | |||
| nonsense | 2 | 2 | ||||
| start loss | 2 | 2 | ||||
| frameshift | 2 | 1 | 3 | |||
| splice donor/acceptor (+/-2bp) | 1 | 2 | 3 | |||
| Total | 0 | 0 | 95 | 56 | 0 | 151 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_443104.1 | 3 | MANE Select | |
| Ensembl | ENSP00000337432.4 | 3 | MANE Select | |
| Ensembl | ENSP00000514702.1 | 3 | Standard | |
| RefSeq | XP_011512578.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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
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
Molecular Function
- cytokine activity
- cytokine receptor binding
- protein binding
- cytokine binding
- protein homodimerization activity
Cellular Component
- extracellular region
- extracellular space
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000336123
- Coding exons
- 3
- Length
- 7857
- Individuals with no LoFs
- 125346
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 390
- Defined
- 125737
- p
- 0.00156
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.160 | 103 | 98.5 | 1.05 | 0.00000612 | 1057 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00049 | 0.00049 | rare |
| Latino/Admixed American | 0.0012 | 0.0012 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.014 | 0.014 | notable |
| Finnish | 0.00051 | 0.00051 | rare |
| European (Non-Finnish) | 0.00024 | 0.00024 | rare |
| South Asian | 0.0015 | 0.0014 | notable |
| Other | 0.00098 | 0.00098 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.384
Intolerance Scores
- LoFtool
- 0.587
- RVIS EVS
- 0.31
- RVIS percentile EVS
- 72.23
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0569
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |