GeneBe

IRAK2

interleukin 1 receptor associated kinase 2

Basic information

Region (hg38): 3:10164919-10243745

Links

ENSG00000134070 ∙ NCBI:3656 ∙ OMIM:603304 ∙ HGNC:6113 ∙ Uniprot:O43187 ∙ 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 IRAK2 gene.

  • not_specified (89 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IRAK2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001570.4. 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
 2
missense
84
clinvar
6
clinvar
 90
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 84 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IRAK2protein_codingprotein_codingENST00000256458 1378879
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.61e-190.0076812552212251257480.000899
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.06323743711.010.00002164056
Missense in Polyphen122124.010.983781325
Synonymous0.7161411520.9260.000009731246
Loss of Function0.3963032.40.9250.00000160352

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002200.00220
Ashkenazi Jewish0.000.00
East Asian0.001360.00136
Finnish0.00009370.0000924
European (Non-Finnish)0.0009950.000950
Middle Eastern0.001360.00136
South Asian0.0005930.000588
Other0.001020.000978

dbNSFP

Source: dbNSFP

Function
FUNCTION: Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization. {ECO:0000269|PubMed:10383454, ECO:0000269|PubMed:9374458}.;
Pathway
Neurotrophin signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);JAK-STAT-Ncore;Regulation of toll-like receptor signaling pathway;IL-1 signaling pathway;Structural Pathway of Interleukin 1 (IL-1);Fibrin Complement Receptor 3 Signaling Pathway;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signaling by Interleukins;signal transduction through il1r;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;NOD1/2 Signaling Pathway;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Interleukin-1 signaling;Innate Immune System;Immune System;IL1;IL-7 signaling;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;activated TAK1 mediates p38 MAPK activation;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;JAK STAT pathway and regulation;EPO signaling;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;VEGF;IRAK2 mediated activation of TAK1 complex;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Endogenous TLR signaling;Interleukin-1 family signaling (Consensus)

Recessive Scores

pRec
0.177

Intolerance Scores

loftool
0.528
rvis_EVS
1.23
rvis_percentile_EVS
93.26

Haploinsufficiency Scores

pHI
0.0823
hipred
N
hipred_score
0.477
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.998

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Irak2
Phenotype
homeostasis/metabolism phenotype; immune system 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); hematopoietic system phenotype;

Gene ontology

Biological process
activation of MAPK activity;regulation of cytokine-mediated signaling pathway;toll-like receptor signaling pathway;MyD88-dependent toll-like receptor signaling pathway;protein phosphorylation;inflammatory response;I-kappaB kinase/NF-kappaB signaling;JNK cascade;cytokine-mediated signaling pathway;lipopolysaccharide-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;toll-like receptor 9 signaling pathway;intracellular signal transduction;positive regulation of NF-kappaB transcription factor activity;nucleotide-binding oligomerization domain containing signaling pathway;interleukin-1-mediated signaling pathway;response to interleukin-1
Cellular component
nucleus;cytoplasm;cytosol;plasma membrane;endosome membrane
Molecular function
protein serine/threonine kinase activity;protein binding;ATP binding;protein homodimerization activity;protein heterodimerization activity