GeneBe

IL17RB

interleukin 17 receptor B, the group of Interleukin receptors

Basic information

Region (hg38): 3:53846568-53865794

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.

  • not_specified (57 variants)
  • not_provided (2 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. These statistics are base on transcript: NM_000018725.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
50
clinvar
8
clinvar
 58
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 50 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL17RBprotein_codingprotein_codingENST00000288167 1119221
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.46e-110.34112515415931257480.00236
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2582862741.040.00001383285
Missense in Polyphen6472.6680.88072961
Synonymous0.905941060.8880.00000599965
Loss of Function1.031924.50.7760.00000130264

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01030.0103
Ashkenazi Jewish0.006060.00607
East Asian0.004960.00480
Finnish0.00004620.0000462
European (Non-Finnish)0.0007750.000774
Middle Eastern0.004960.00480
South Asian0.0008010.000784
Other0.001670.00163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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