IRAK2 interleukin 1 receptor associated kinase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRAK2provided by HGNC
Official Full Name: interleukin 1 receptor associated kinase 2provided by HGNC
Primary source: HGNC:HGNC:6113
See related: Ensembl:ENSG00000134070 MIM:603304; AllianceGenome:HGNC:6113
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRAK-2
Summary: IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 8.0), urinary bladder (RPKM 5.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (10164919..10243745)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (10157816..10237049)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (10206603..10285429)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multi-locus SNP analyses of interleukin 1 receptor associated kinases 2 gene polymorphisms with the susceptibility to rheumatoid arthritis.
Title: Multi-locus SNP analyses of interleukin 1 receptor associated kinases 2 gene polymorphisms with the susceptibility to rheumatoid arthritis.
IRAK2 Has a Critical Role in Promoting Feed-Forward Amplification of Epidermal Inflammatory Responses.
Title: IRAK2 Has a Critical Role in Promoting Feed-Forward Amplification of Epidermal Inflammatory Responses.
The extreme C-terminus of IRAK2 assures full TRAF6 ubiquitination and optimal TLR signaling.
Title: The extreme C-terminus of IRAK2 assures full TRAF6 ubiquitination and optimal TLR signaling.
MyD88 Death-Domain Oligomerization Determines Myddosome Architecture: Implications for Toll-like Receptor Signaling.
Title: MyD88 Death-Domain Oligomerization Determines Myddosome Architecture: Implications for Toll-like Receptor Signaling.
IRAK2 is associated with systemic lupus erythematosus risk.
Title: IRAK2 is associated with systemic lupus erythematosus risk.
Both IRAK2 and TLR10 play important roles in the onset and development of Hashimoto's disease.
Title: IRAK2 and TLR10 confer risk of Hashimoto's disease: a genetic association study based on the Han Chinese population.
these findings demonstrate a novel mechanism of interplays for the different branches of ER stress signaling network and highlight IRAK2 as a potential tumor suppressor to counterbalance oncogenic Smurf1.
Title: IRAK2 counterbalances oncogenic Smurf1 in colon cancer cells by dictating ER stress.
Authors identified IRAK2 rs779901 C > T as a predictor of NSCLC OS, with a variant-allele (T) attributed hazards ratio (HR) of 0.78 [95% confidence interval (CI) = 0.67-0.91, P = 0.001] in the PLCO dataset, 0.84 (0.72-0.98, 0.031) in the Harvard dataset, and 0.81 (0.73-0.90, 1.08x10(-4) ) in the meta-analysis of these two GWAS datasets.
Title: Genetic variant of IRAK2 in the toll-like receptor signaling pathway and survival of non-small cell lung cancer.
This study for the first time ever reports the association of IRAK2 rs3844283, IRAK2 rs708035, and the corresponding haplotypes with rheumatoid arthritis.
Title: IRAK2 is associated with susceptibility to rheumatoid arthritis.
IRAK2 L392V showed intact binding to, but impaired ubiquitination of, tumor necrosis factor receptor-associated factor 6, a vital step in signal transduction
Title: A frequent hypofunctional IRAK2 variant is associated with reduced spontaneous hepatitis C virus clearance.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of interleukin-1 receptor-associated kinase 2 (IRAK2) in human B cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S1317 (e-PCR)
- UniSTS:148554

SGC38201 (e-PCR)
- UniSTS:1129

D3S1335 (e-PCR)
- UniSTS:148449

D3S4351 (e-PCR)
- UniSTS:474099

D3S1435 (e-PCR)
- UniSTS:148212

SHGC-173185 (e-PCR)
- UniSTS:185343

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in MyD88-dependent toll-like receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in Toll signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in interleukin-1-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-1-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipopolysaccharide-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipopolysaccharide-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to interleukin-1	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interleukin-1 receptor-associated kinase-like 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001570.4 → NP_001561.3 interleukin-1 receptor-associated kinase-like 2

See identical proteins and their annotated locations for NP_001561.3

Status: REVIEWED

Source sequence(s)

AC022384, AF026273, AJ496794, AL538890, AL556221, BG682610

Consensus CDS

CCDS33697.1

UniProtKB/Swiss-Prot

B4DQZ6, O43187, Q08AG6, Q5K546

UniProtKB/TrEMBL

B2R748

Related

ENSP00000256458.4, ENST00000256458.5

Conserved Domains (2) summary

cd08795
Location:3 → 91

Death_IRAK2; Death domain of Interleukin 1 Receptor Associated Kinase-2

cd14157
Location:216 → 504

STKc_IRAK2; Catalytic domain of the Serine/Threonine kinase, Interleukin-1 Receptor Associated Kinase 2