GeneBe

IL1R2

interleukin 1 receptor type 2, the group of Immunoglobulin like domain containing|CD molecules|Interleukin receptors

Basic information

Region (hg38): 2:101991960-102028544

Previous symbols: [ "IL1RB" ]

Links

ENSG00000115590 ∙ NCBI:7850 ∙ OMIM:147811 ∙ HGNC:5994 ∙ Uniprot:P27930 ∙ 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 IL1R2 gene.

  • not_specified (58 variants)
  • not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL1R2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004633.4. 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
2
clinvar
1
clinvar
 3
missense
48
clinvar
10
clinvar
1
clinvar
 59
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 48 12 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL1R2protein_codingprotein_codingENST00000332549 836701
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
6.54e-150.0042712564301051257480.000418
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1112422371.020.00001392576
Missense in Polyphen7167.7381.0482787
Synonymous0.3538791.30.9530.00000530796
Loss of Function-0.6762017.01.187.20e-7214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004600.000459
Ashkenazi Jewish0.00009970.0000992
East Asian0.0002200.000217
Finnish0.00009250.0000924
European (Non-Finnish)0.0007340.000730
Middle Eastern0.0002200.000217
South Asian0.0001630.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Non-signaling receptor for IL1A, IL1B and IL1RN. Reduces IL1B activities. Serves as a decoy receptor by competetive binding to IL1B and preventing its binding to IL1R1. Also modulates cellular response through non-signaling association with IL1RAP after binding to IL1B. IL1R2 (membrane and secreted forms) preferentially binds IL1B and poorly IL1A and IL1RN. The secreted IL1R2 recruits secreted IL1RAP with high affinity; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors. {ECO:0000269|PubMed:10975853, ECO:0000269|PubMed:12530978, ECO:0000269|PubMed:7989776, ECO:0000269|PubMed:9862719}.;
Pathway
HTLV-I infection - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Apoptosis Modulation and Signaling;MAPK Signaling Pathway;Interleukin-10 signaling;Signaling by Interleukins;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;Interleukin-1 signaling;Immune System;IL1;JAK STAT MolecularVariation 2;JAK STAT pathway and regulation;IL1-mediated signaling events;Interleukin-1 family signaling (Consensus)

Recessive Scores

pRec
0.270

Intolerance Scores

loftool
0.892
rvis_EVS
-0.71
rvis_percentile_EVS
14.57

Haploinsufficiency Scores

pHI
0.701
hipred
N
hipred_score
0.211
ghis
0.520

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.889

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Il1r2
Phenotype
hearing/vestibular/ear phenotype;

Gene ontology

Biological process
immune response;negative regulation of protein processing;cytokine-mediated signaling pathway;negative regulation of interleukin-1 alpha secretion;interleukin-1-mediated signaling pathway;negative regulation of cytokine production involved in inflammatory response;negative regulation of interleukin-1-mediated signaling pathway
Cellular component
extracellular region;cytoplasm;plasma membrane;integral component of membrane
Molecular function
interleukin-1 receptor activity;interleukin-1, type II, blocking receptor activity;protein binding;interleukin-1 binding