IL17RE

interleukin 17 receptor E, the group of Interleukin receptors

Basic information

Region (hg38): 3:9902612-9916402

Links

ENSG00000163701 ∙ NCBI:132014 ∙ OMIM:614995 ∙ HGNC:18439 ∙ Uniprot:Q8NFR9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL17RE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17RE gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			38	1	4	43
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	2	4

Variants in IL17RE

This is a list of pathogenic ClinVar variants found in the IL17RE region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-9902895-G-A		not specified	Uncertain significance (Oct 29, 2021)
3-9902904-T-C		not specified	Uncertain significance (Nov 15, 2021)
3-9902935-G-A		not specified	Uncertain significance (Dec 20, 2023)
3-9902952-C-T			Benign (Jun 12, 2018)
3-9902967-C-A		not specified	Uncertain significance (Oct 09, 2024)
3-9902987-G-A		not specified	Uncertain significance (Jun 17, 2022)
3-9903017-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-9903018-G-A		not specified	Uncertain significance (Dec 06, 2022)
3-9903026-C-A		not specified	Uncertain significance (May 03, 2023)
3-9903039-C-T		not specified	Uncertain significance (Jan 02, 2024)
3-9903041-C-T		not specified	Uncertain significance (Aug 04, 2024)
3-9903401-A-G		not specified	Uncertain significance (May 26, 2023)
3-9904035-G-A		not specified	Uncertain significance (Jun 17, 2024)
3-9904055-C-T		not specified	Uncertain significance (Aug 09, 2021)
3-9904082-A-G		not specified	Uncertain significance (Jun 10, 2024)
3-9904098-G-A		not specified	Uncertain significance (Dec 27, 2023)
3-9906372-C-T		not specified	Likely benign (Aug 28, 2024)
3-9906381-T-C		not specified	Uncertain significance (Apr 27, 2022)
3-9906418-C-T		not specified	Uncertain significance (Nov 11, 2024)
3-9906428-C-A		not specified	Uncertain significance (Nov 02, 2023)
3-9906747-T-A		not specified	Uncertain significance (May 29, 2024)
3-9906760-C-T		not specified	Uncertain significance (Aug 30, 2022)
3-9906835-C-A		not specified	Uncertain significance (Dec 02, 2024)
3-9906997-G-A		not specified	Uncertain significance (Apr 22, 2022)
3-9907038-G-A		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17RE	protein_coding	protein_coding	ENST00000295980	16	13791

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.57e-8	0.996	125707	0	41	125748	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	267	320	0.835	0.0000176	4189
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000412	0.000412
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000792	0.0000791
Middle Eastern	0.000544	0.000544
South Asian	0.000294	0.000294
Other	0.000164	0.000163

dbNSFP

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}.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway (Consensus)

Recessive Scores

• pRec: 0.0864

Intolerance Scores

• loftool: 0.850
• rvis_EVS: 2.07
• rvis_percentile_EVS: 97.8

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.357
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0430

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il17re
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland 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;interleukin-17-mediated signaling pathway
• Cellular component: extracellular region;cytoplasm;plasma membrane;integral component of membrane
• Molecular function: protein binding;interleukin-17 receptor activity