IL17REL

protein-coding

interleukin 17 receptor E like

Gene summary

Predicted to enable interleukin-17 receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001371417.1

Inheritance

—

ClinVar variants

U:69B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr22:49,991,811-50,012,765

External References & Databases

Ensembl (ENSG00000188263)

Transcript & Mutation Effects

hg38 • Region Span ~21.0 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 IL17REL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 70

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001371417.1. 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			5 clinvar	7 clinvar		12
missense			63 clinvar	3 clinvar		66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	69	10	0	79

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001371417.1	RefSeq	NP_001358346.1	15	MANE Select
ENST00000695950.1	Ensembl	ENSP00000512282.1	15	MANE Select
NM_001001694.3	RefSeq	NP_001001694.2	11	Standard
NM_001371416.1	RefSeq	NP_001358345.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cytokine-mediated signaling pathway

Molecular Function

interleukin-17 receptor activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000389983
Coding exons: 11
Length: 18147
Individuals with no LoFs: 125666
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125690
p: 0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.289	187	198	0.942	0.0000121	2118
Missense (PolyPhen)		55	58.386	0.94201		697
Synonymous	-0.698	95	86.7	1.10	0.00000551	682
Loss of Function	2.50	8	20.1	0.398	8.62e-7	220

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00031	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000091	0.000088	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.375
RVIS EVS: 0.6
RVIS percentile EVS: 82.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.313

Gene Damage Prediction

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