IL17RB
protein-codinginterleukin 17 receptor B, the group of Interleukin receptors
Gene summary
The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008]
- IL17BR
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~19.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IL17RB variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_018725.4. 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 | 0 | |||||
| missense | 64 | 8 | 72 | |||
| nonsense | 4 | 4 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 71 | 8 | 0 | 79 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_061195.2 | 11 | MANE Select | |
| Ensembl | ENSP00000288167.3 | 11 | MANE Select | |
| Ensembl | ENSP00000418638.1 | 10 | Standard | |
| Ensembl | ENSP00000569781.1 | 11 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- IL-17 signaling pathway - Homo sapiens (human)
- Cytokine-cytokine receptor interaction - Homo sapiens (human)
- IL17 signaling pathway
Biological Process
- regulation of cell growth
- defense response
- positive regulation of inflammatory response
- interleukin-17-mediated signaling pathway
- positive regulation of interleukin-5 secretion
Molecular Function
- cytokine receptor activity
- interleukin-17 receptor activity
Cellular Component
- extracellular region
- cytoplasm
- plasma membrane
- integral component of plasma membrane
- cell surface
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000288167
- Coding exons
- 11
- Length
- 19221
- Individuals with no LoFs
- 125154
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 593
- Defined
- 125748
- p
- 0.00236
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.258 | 286 | 274 | 1.04 | 0.0000138 | 3285 |
| Missense (PolyPhen) | 64 | 72.668 | 0.88072 | 961 | ||
| Synonymous | 0.905 | 94 | 106 | 0.888 | 0.00000599 | 965 |
| Loss of Function | 1.03 | 19 | 24.5 | 0.776 | 0.00000130 | 264 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00094 | 0.00092 | rare |
| Latino/Admixed American | 0.0094 | 0.0089 | notable |
| Ashkenazi Jewish | 0.0061 | 0.0061 | notable |
| East Asian | 0.0050 | 0.0048 | notable |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00078 | 0.00077 | rare |
| South Asian | 0.00080 | 0.00078 | rare |
| Other | 0.0017 | 0.0016 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells. {ECO:0000269|PubMed:11058597}.;
Recessive Scores
- pRec
- 0.0911
Intolerance Scores
- LoFtool
- 0.927
- RVIS EVS
- 1.02
- RVIS percentile EVS
- 91.05
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.157
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |