IL17RB

interleukin 17 receptor B, the group of Interleukin receptors

Basic information

Region (hg38): 3:53846567-53865794

Previous symbols: [ "IL17BR" ]

Links

ENSG00000056736 ∙ NCBI:55540 ∙ OMIM:605458 ∙ HGNC:18015 ∙ Uniprot:Q9NRM6 ∙ 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 IL17RB gene.

• Inborn genetic diseases (17 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17RB 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						0
missense			15	3		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	0

Variants in IL17RB

This is a list of pathogenic ClinVar variants found in the IL17RB region.

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

Position	Type	Phenotype	Significance	ClinVar
3-53848667-G-A		not specified	Likely benign (Feb 16, 2023)
3-53849715-G-A		not specified	Uncertain significance (Aug 27, 2020)
3-53849742-C-G		not specified	Uncertain significance (Apr 20, 2023)
3-53849763-T-C		not specified	Uncertain significance (Jul 14, 2021)
3-53852007-C-T		not specified	Uncertain significance (Jul 29, 2023)
3-53852008-G-A		not specified	Uncertain significance (Oct 05, 2023)
3-53852038-C-T		not specified	Uncertain significance (Feb 17, 2024)
3-53852910-A-G		not specified	Uncertain significance (Sep 06, 2022)
3-53852929-C-A		not specified	Uncertain significance (Oct 02, 2023)
3-53856963-A-G		not specified	Uncertain significance (Mar 21, 2023)
3-53857653-T-C		not specified	Uncertain significance (Jan 09, 2024)
3-53858737-A-G		not specified	Uncertain significance (Oct 25, 2023)
3-53858759-G-A		not specified	Uncertain significance (Sep 26, 2023)
3-53858797-G-A		not specified	Uncertain significance (Oct 14, 2021)
3-53860142-C-T		not specified	Likely benign (Jan 26, 2023)
3-53864764-C-T		not specified	Uncertain significance (Nov 30, 2021)
3-53864925-A-G		not specified	Uncertain significance (Jan 26, 2022)
3-53864926-T-C		not specified	Uncertain significance (Oct 22, 2021)
3-53864958-A-G		not specified	Uncertain significance (Jul 05, 2023)
3-53864959-A-C		not specified	Uncertain significance (Jul 05, 2023)
3-53864997-G-A		not specified	Uncertain significance (Jan 10, 2023)
3-53865012-G-A		not specified	Uncertain significance (Nov 07, 2022)
3-53865025-G-A		not specified	Uncertain significance (Dec 21, 2022)
3-53865143-T-G		not specified	Uncertain significance (Feb 27, 2024)
3-53865165-G-A		not specified	Likely benign (Jan 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17RB	protein_coding	protein_coding	ENST00000288167	11	19221

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.46e-11	0.341	125154	1	593	125748	0.00236

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.258	286	274	1.04	0.0000138	3285
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0103	0.0103
Ashkenazi Jewish	0.00606	0.00607
East Asian	0.00496	0.00480
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000775	0.000774
Middle Eastern	0.00496	0.00480
South Asian	0.000801	0.000784
Other	0.00167	0.00163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• loftool: 0.927
• rvis_EVS: 1.02
• rvis_percentile_EVS: 91.05

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.123
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.157

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il17rb
• Phenotype: respiratory system phenotype; hematopoietic system phenotype; digestive/alimentary phenotype; skeleton phenotype; immune system phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: regulation of cell growth;defense response;positive regulation of inflammatory response;interleukin-17-mediated signaling pathway;positive regulation of interleukin-5 secretion;positive regulation of interleukin-13 secretion
• Cellular component: extracellular region;cytoplasm;plasma membrane;integral component of plasma membrane;cell surface;membrane
• Molecular function: cytokine receptor activity;interleukin-17 receptor activity