IL17RE

protein-coding

interleukin 17 receptor E, the group of Interleukin receptors

Gene summary

This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]

MANE transcript

NM_153480.2

Inheritance

—

ClinVar variants

U:100B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr3:9,902,612-9,916,402

External References & Databases

Ensembl (ENSG00000163701)

Transcript & Mutation Effects

hg38 • Region Span ~13.8 kb

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GenCC 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 IL17RE variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 103

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153480.2. 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			1 clinvar	4 clinvar		5
missense			91 clinvar	7 clinvar	4 clinvar	102
nonsense			1 clinvar			1
start loss			2 clinvar			2
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	100	11	4	115

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153480.2	RefSeq	NP_705613.1	16	MANE Select
ENST00000383814.8	Ensembl	ENSP00000373325.3	16	MANE Select
NM_001193380.2	RefSeq	NP_001180309.1	16	Standard
NM_153481.2	RefSeq	NP_705614.1	13	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

inflammatory response
interleukin-17-mediated signaling pathway

Molecular Function

protein binding
interleukin-17 receptor activity

Cellular Component

extracellular region
cytoplasm
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295980
Coding exons: 16
Length: 13791
Individuals with no LoFs: 125707
Homozygous LoFs: 0
Heterozygous LoFs: 41
Defined: 125748
p: 0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.05	267	320	0.835	0.0000176	4189
Missense (PolyPhen)		29	63.223	0.4587		1031
Synonymous	0.795	115	126	0.910	0.00000626	1433
Loss of Function	2.58	17	33.0	0.515	0.00000157	364

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00054	0.00054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000079	0.000079	rare
South Asian	0.00029	0.00029	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Specific functional receptor for IL17C. May be signaling through the NF-kappa-B and MAPK pathways. May require TRAF3IP2 /ACT1 for signaling. May be a crucial regulator in innate immunity to bacterial pathogens. Isoform 2 and isoform 4 may be either cytoplasmic inactive or dominant active forms. Isoform 3 and isoform 5 may act as soluble decoy receptors. {ECO:0000269|PubMed:21993848, ECO:0000269|PubMed:21993849}.;

Recessive Scores

pRec: 0.0864

Intolerance Scores

LoFtool: 0.850
RVIS EVS: 2.07
RVIS percentile EVS: 97.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): H
Indispensability pred.: N
Indispensability score: 0.0430

Gene Damage Prediction

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