IRAK4 (interleukin 1 receptor associated kinase 4)

2003-06-01 Affiliation

Identity

HGNC

IRAK4

LOCATION

12q12

LOCUSID

51135

ALIAS

IMD67,IPD1,IRAK-4,NY-REN-64,REN64

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51135
MIM: 606883
HGNC: 17967
Ensembl: ENSG00000198001

Variants:

dbSNP: 51135
ClinVar: 51135
TCGA: ENSG00000198001
COSMIC: IRAK4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198001	ENST00000431837	Q9NWZ3
ENSG00000198001	ENST00000440781	Q9NWZ3
ENSG00000198001	ENST00000448290	A0A0R4J2F4
ENSG00000198001	ENST00000547101	F8VW24
ENSG00000198001	ENST00000547521	F8VVZ1
ENSG00000198001	ENST00000550361	F8VVZ1
ENSG00000198001	ENST00000550386	F8VW24
ENSG00000198001	ENST00000550615	F8VVZ1
ENSG00000198001	ENST00000550616	F8VR40
ENSG00000198001	ENST00000551736	Q9NWZ3
ENSG00000198001	ENST00000551736	Q69FE3
ENSG00000198001	ENST00000552309	F8VVZ1
ENSG00000198001	ENST00000613694	Q9NWZ3
ENSG00000198001	ENST00000613694	Q69FE3

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Toll-like receptor signaling pathway	KEGG	ko04620
Toll-like receptor signaling pathway	KEGG	hsa04620
Neurotrophin signaling pathway	KEGG	ko04722
Neurotrophin signaling pathway	KEGG	hsa04722
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Leishmaniasis	KEGG	ko05140
Leishmaniasis	KEGG	hsa05140
Chagas disease (American trypanosomiasis)	KEGG	ko05142
Chagas disease (American trypanosomiasis)	KEGG	hsa05142
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
Measles	KEGG	ko05162
Measles	KEGG	hsa05162
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
Pertussis	KEGG	ko05133
Pertussis	KEGG	hsa05133
NF-kappa B signaling pathway	KEGG	hsa04064
NF-kappa B signaling pathway	KEGG	ko04064
Toll-like receptor signaling	KEGG	hsa_M00686
Toll-like receptor signaling	KEGG	M00686
Disease	REACTOME	R-HSA-1643685
Diseases of Immune System	REACTOME	R-HSA-5260271
Diseases associated with the TLR signaling cascade	REACTOME	R-HSA-5602358
IRAK4 deficiency (TLR2/4)	REACTOME	R-HSA-5603041
IRAK4 deficiency (TLR5)	REACTOME	R-HSA-5603037
MyD88 deficiency (TLR2/4)	REACTOME	R-HSA-5602498
MyD88 deficiency (TLR5)	REACTOME	R-HSA-5602680
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Toll-Like Receptors Cascades	REACTOME	R-HSA-168898
Toll Like Receptor 10 (TLR10) Cascade	REACTOME	R-HSA-168142
MyD88 cascade initiated on plasma membrane	REACTOME	R-HSA-975871
Toll Like Receptor 5 (TLR5) Cascade	REACTOME	R-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) Cascade	REACTOME	R-HSA-168181
MyD88 dependent cascade initiated on endosome	REACTOME	R-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	REACTOME	R-HSA-975138
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling	REACTOME	R-HSA-975110
Toll Like Receptor 9 (TLR9) Cascade	REACTOME	R-HSA-168138
Toll Like Receptor 4 (TLR4) Cascade	REACTOME	R-HSA-166016
Activated TLR4 signalling	REACTOME	R-HSA-166054
MyD88:Mal cascade initiated on plasma membrane	REACTOME	R-HSA-166058
Toll Like Receptor 2 (TLR2) Cascade	REACTOME	R-HSA-181438
Toll Like Receptor TLR1:TLR2 Cascade	REACTOME	R-HSA-168179
Toll Like Receptor TLR6:TLR2 Cascade	REACTOME	R-HSA-168188
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-1 signaling	REACTOME	R-HSA-446652

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36825363	2023	Pseudomonas Meningitis and Intracranial Hemorrhage in IRAK-4 Deficiency.	0
36880831	2023	Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.	10
37172199	2023	Paralog-specific signaling by IRAK1/4 maintains MyD88-independent functions in MDS/AML.	5
37744344	2023	Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.	0
37997696	2023	Toll-like receptor signalling via IRAK4 affects epithelial integrity and tightness through regulation of junctional tension.	0
36825363	2023	Pseudomonas Meningitis and Intracranial Hemorrhage in IRAK-4 Deficiency.	0
36880831	2023	Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.	10
37172199	2023	Paralog-specific signaling by IRAK1/4 maintains MyD88-independent functions in MDS/AML.	5
37744344	2023	Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.	0
37997696	2023	Toll-like receptor signalling via IRAK4 affects epithelial integrity and tightness through regulation of junctional tension.	0
35022428	2022	Eliminating chronic myeloid leukemia stem cells by IRAK1/4 inhibitors.	8
35271824	2022	IRAK4 Signaling Drives Resistance to Checkpoint Immunotherapy in Pancreatic Ductal Adenocarcinoma.	14
35478439	2022	Association of the IRAK4 rs4251545 genetic polymorphism with severity of enterovirus-71 infection in Chinese children.	3
35022428	2022	Eliminating chronic myeloid leukemia stem cells by IRAK1/4 inhibitors.	8
35271824	2022	IRAK4 Signaling Drives Resistance to Checkpoint Immunotherapy in Pancreatic Ductal Adenocarcinoma.	14

Citation

Dessen P

IRAK4 (interleukin 1 receptor associated kinase 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40989