IRAK4 - interleukin 1 receptor associated kinase 4 Gene

Also Known as IPD1; IMD67; REN64; IRAK-4; NY-REN-64

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51135

About IRAK4

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:43,758,951-43,789,541 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 7.4), appendix (RPKM 6.9) and 25 other tissues.

Summary

This gene encodes a kinase that activates NF-kappaB in both the Toll-like Receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

IRAK4 Products (19)

mRNA Protein Name
NM_001145258.2 NP_001138730.1 interleukin-1 receptor-associated kinase 4 isoform b
XM_005268943.4 XP_005269000.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_016123.4 NP_057207.2 interleukin-1 receptor-associated kinase 4 isoform a
XM_017019390.3 XP_016874879.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351342.2 NP_001338271.1 interleukin-1 receptor-associated kinase 4 isoform b
XM_006719438.4 XP_006719501.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351344.2 NP_001338273.1 interleukin-1 receptor-associated kinase 4 isoform c
XM_005268945.5 XP_005269002.1 interleukin-1 receptor-associated kinase 4 isoform X1
XM_011538431.3 XP_011536733.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351338.2 NP_001338267.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001351343.2 NP_001338272.1 interleukin-1 receptor-associated kinase 4 isoform c
XM_005268944.5 XP_005269001.1 interleukin-1 receptor-associated kinase 4 isoform X1
NM_001351341.2 NP_001338270.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001351339.2 NP_001338268.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001145256.2 NP_001138728.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001145257.2 NP_001138729.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001351345.2 NP_001338274.1 interleukin-1 receptor-associated kinase 4 isoform a
NM_001351340.2 NP_001338269.1 interleukin-1 receptor-associated kinase 4 isoform b
NM_001114182.3 NP_001107654.1 interleukin-1 receptor-associated kinase 4 isoform a
Molecular Function GO Annotation Evidence References Source
enables kinase activity IDA
IDA: Inferred from direct assay
11960013 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12496252 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
33238146 GOA
enables protein serine/threonine kinase activity EXP
EXP: Inferred from Experiment
11960013 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
11960013 GOA
Biological Process GO Annotation Evidence References Source
involved in interleukin-1-mediated signaling pathway IDA
IDA: Inferred from direct assay
20485341 GOA
involved in interleukin-33-mediated signaling pathway IDA
IDA: Inferred from direct assay
11960013 GOA
involved in neutrophil mediated immunity IMP
IMP: Inferred from mutant phenotype
19663824 GOA
involved in neutrophil migration IMP
IMP: Inferred from mutant phenotype
19663824 GOA
acts upstream of or within positive regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
22158417 GOA
Cellular Component GO Annotation Evidence References Source
is active in cell surface IDA
IDA: Inferred from direct assay
22851693 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IRAK4 Protein Structure

Pkinase

Pkinase: Protein kinase domain (190 - 452)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 460 a.a.
Protein Preferred Names Protein Names

interleukin-1 receptor-associated kinase 4

  • renal carcinoma antigen NY-REN-64

IRAK4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
IRAK4 Q9NWZ3 MYD88 Homo sapiens Q99836-1 20485341
Intra
IRAK4 Q9NWZ3 VSIG8 Homo sapiens P0DPA2 33961781
Intra
IRAK4 Q9NWZ3 VSIG8 Homo sapiens P0DPA2 28514442
Intra
IRAK4 Q9NWZ3 TRIM7 Homo sapiens Q9C029 32296183
Intra
IRAK4 Q9NWZ3 TRIM7 Homo sapiens Q9C029 32296183
Intra
IRAK4 Q9NWZ3 MYD88 Homo sapiens Q99836 31515488
Intra
IRAK4 Q9NWZ3 MYD88 Homo sapiens Q99836 26871637
Intra
IRAK4 Q9NWZ3 MYD88 Homo sapiens Q99836 26871637
Intra
IRAK4 Q9NWZ3 MYD88 Homo sapiens Q99836 25502805
Intra
IRAK4 Q9NWZ3 MYD88 Homo sapiens Q99836 26871637
Intra
IRAK4 Q9NWZ3 IRAK2 Homo sapiens O43187 21903422
Intra
IRAK4 Q9NWZ3 IRAK2 Homo sapiens O43187 20485341
Intra
IRAK4 Q9NWZ3 PELI1 Homo sapiens Q96FA3 32296183
Intra
IRAK4 Q9NWZ3 PELI1 Homo sapiens Q96FA3 32296183
Intra
IRAK4 Q9NWZ3 PELI2 Homo sapiens Q9HAT8 12860405
Intra
IRAK4 Q9NWZ3 IL36RN Homo sapiens Q9UBH0 32296183
Intra
IRAK4 Q9NWZ3 IL36RN Homo sapiens Q9UBH0 32296183
Intra
IRAK4 Q9NWZ3 IL36RN Homo sapiens Q9UBH0 32296183
Cross
IRAK4 Q9NWZ3 Irak3 Mus musculus Q8K4B2 23376919
Intra
IRAK4 Q9NWZ3 ZNF597 Homo sapiens Q96LX8 32296183
Intra
IRAK4 Q9NWZ3 ZNF597 Homo sapiens Q96LX8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant IRAK4 Proteins

Cat. No. Product Name Accession Purity
HY-P73255 IRAK4 Protein, Human (Active, sf9, His) Q9NWZ3-1 (M1-S460) ≥ 90%, as determined by reducing SDS-PAGE.

IRAK4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83370 IRAK4 Antibody (YA3115) WB, IHC-F, IHC-P, ICC/IF Human
HY-P83370A IRAK4 Antibody (YA3115)(PBS only) WB, IHC-F, IHC-P, ICC/IF Human
HY-P84834 IRAK4 Antibody (YA4531) WB, IHC-P, FC, ELISA Human, Mouse, Rat, , Monkey
HY-P84834A IRAK4 Antibody (YA4531)(PBS only) WB, IHC-P, FC, ELISA Human, Mouse, Rat, , Monkey
HY-P85231 IRAK-4 Antibody (YA4923) WB, IHC-P Human, Mouse, Monkey

Related Diseases

Diseases Alias
Disease By Infectious Agent
  • Infectious Disease

  • Infectious Diseases

Bacterial Infectious Disease
  • Bacterial Infections

  • Bacterial Infection Nos

  • Disease Caused By Bacteria

  • Bacterial Disease Or Disorder

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency Disease

  • Primary Immunodeficiency

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Lymphoplasmacytic Lymphoma
  • Waldenstrom Macroglobulinemia

  • Malignant Lymphoma - Lymphoplasmacytic

  • Waldenström Macroglobulinaemia

  • Waldenström Macroglobulinaemia Without Mention Of Remission

  • Idiopathic Macroglobulinaemia

  • Primary Macroglobulinaemia

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
  • Hypohidrotic Ectodermal Dysplasia

  • Hed

  • Anhidrotic Ectodermal Dysplasia

  • Ectodermal Dysplasia, Hypohidrotic

  • Eda

  • Christ-Siemens-Touraine Syndrome

  • ECTD10B

  • Ectodermal Dysplasia Anhidrotic

  • Ectodermal Dysplasia, Anhidrotic

  • Cst Syndrome

  • Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

  • Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

  • Dysplasia, Ectodermal, Hypohidrotic

  • Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

  • Ectodermal Dysplasia 3, Anhidrotic

  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Ecthyma
Maxillary Sinusitis
Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Waldenstroem'S Macroglobulinemia
  • Waldenstrom Macroglobulinemia

  • Macroglobulinemia Of Waldenstrom

  • Lymphoplasmacytic Lymphoma With Igm Gammopathy

  • Lymphoplasmacytic Lymphoma

  • Waldenstrom'S Macroglobulinaemia

  • Waldenstrom'S Syndrome

  • Waldenström Macroglobulinemia

  • Waldenstrom'S Macroglobulinemia

  • Wm

  • Waldenström'S Macroglobulinemia

  • Malignant Lymphoma - Lymphoplasmacytic

Chronic Maxillary Sinusitis
  • Chronic Antritis

Chronic Mucocutaneous Candidiasis
  • Candidiasis, Chronic Mucocutaneous

  • Cmc

  • Candidiasis Chronic Mucocutaneous

Immunodeficiency 67
  • Irak4 Deficiency

  • Invasive Pneumococcal Disease, Recurrent Isolated

  • IMD67

  • Irak-4 Deficiency

  • Interleukin-1 Receptor-Associated Kinase 4 Deficiency

  • Ikak4d

  • Ipd

  • Interleukin Receptor-Associated Kinase Deficiency

  • Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency

  • Ipd1

  • Irak4d

  • Recurrent Isolated Invasive Pneumococcal Disease 1

  • Invasive Pneumococcal Disease, Recurrent Isolated, 1

Pericarditis
Smallpox
  • Variola

  • Ordinary Smallpox

  • Alastrim

  • Amaas

Glycogen Storage Disease Iv
  • Gsd Iv

  • Glycogen Branching Enzyme Deficiency

  • Andersen Disease

  • Amylopectinosis

  • Glycogen Storage Disease Type Iv

  • GSD4

  • Brancher Deficiency

  • Glycogen Storage Disease, Type Iv

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gbe1 Deficiency

  • Glycogenosis Iv

  • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

  • Glycogen Storage Disease Type 4

  • Glycogenosis 4

  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

  • Andersen'S Disease

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Brancher Deficiency Glycogenosis

  • Branching-Transferase Deficiency Glycogenosis

  • Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

  • Andersen-Tawil Syndrome

  • Gsd 4

  • Andersen Cardiodysrhythmic Periodic Paralysis

  • Lqt7

  • Long Qt Syndrome 7

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Andersen Glycogenosis

  • Branching Enzyme Deficiency

  • Glycogenosis, Type Iv

  • Gsd Type Iv

  • Type Iv Glycogenosis

  • Gbe Deficiency, Childhood Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Gsd Type 4, Childhood Neuromuscular Form

  • Gsdiv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogenosis Type 4, Childhood Neuromuscular Form

  • Glycogenosis Type Iv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gbe Deficiency, Adult Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gsd Type 4, Adult Neuromuscular Form

  • Gsdiv, Adult Neuromuscular Form

  • Glycogen Storage Disease Type 4, Adult Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Glycogenosis Type 4, Adult Neuromuscular Form

  • Glycogenosis Type Iv, Adult Neuromuscular Form

  • Gbe Deficiency, Congenital Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gsd Type 4, Congenital Neuromuscular Form

  • Gsdiv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Glycogenosis Type 4, Congenital Neuromuscular Form

  • Glycogenosis Type Iv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

  • Gsdiv, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Type 4, Fatal Perinatal Neuromuscular Form

  • Gsdiv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gbe Deficiency, Non Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gsd Type 4, Non Progressive Hepatic Form

  • Gsdiv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Glycogenosis Type 4, Non Progressive Hepatic Form

  • Glycogenosis Type Iv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gbe Deficiency, Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gsd Type 4, Progressive Hepatic Form

  • Gsdiv, Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Glycogenosis Type 4, Progressive Hepatic Form

  • Glycogenosis Type Iv, Progressive Hepatic Form

  • Glycogen Storage Disease 4

  • Gsd-Iv

  • Storage Disease, Glycogen, Type Iv

Meningitis
  • Streptococcal Meningitis

  • Acute Streptococcal Meningitis

  • Staphylococcal Meningitis

  • Adenoviral Meningitis

  • Influenza Meningitis

  • Influenzal Meningitis

  • Meningitis Due To H. Influenzae

  • Cryptococcal Meningitis

  • Fungal Meningitis Due To Cryptococcus Neoformans

  • Cryptococcosis Meningitis

  • Cryptococcus Meningitis

  • Cryptococcal Meningoencephalitis

  • Meningitis Due To Cryptococcus

  • Mumps Virus Meningitis

  • Mumps Meningitis

Immunodeficiency 33
  • IMD33

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

  • X-Linked Msmd Due To Ikbkg Deficiency

  • X-Linked Msmd Due To Nemo Deficiency

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

  • Ipd2, Formerly

  • Nf-Kappa B Essential Modulator Deficiency

  • Familial X-Linked 1 Atypical Mycobacteriosis

  • Nemo Deficiency Syndrome

  • Amcbx1

  • Familial, X-Linked, Atypical Mycobacteriosis 1

  • Ipd2

  • Recurrent Isolated Invasive Pneumococcal Disease 2

  • X-Linked Disseminated Atypical Mycobacterial Infection Type 1

  • X-Linked Immunodeficiency 33, Mycobacteriosis

  • X-Linked Susceptibility To Mycobacterial Disease Type 1

  • Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

  • Atypical Mycobacteriosis, Familial, X-Linked 1

Rheumatoid Arthritis
  • RA

  • Arthritis, Rheumatoid

  • Rheumatoid Arthritis, Susceptibility To

  • Arthritis Or Polyarthritis, Rheumatic

  • Atrophic Arthritis

  • Rheumatism Arthritis

  • Rheumatoid Polyarthritis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris IRAK4 VGNC VGNC:42089
Felis catus IRAK4 VGNC VGNC:62972
Macaca mulatta IRAK4 VGNC VGNC:73617
Rattus norvegicus IRAK4 RGD RGD:1305303
Bos taurus IRAK4 VGNC VGNC:30268
Mus musculus IRAK4 MGD MGI:2182474
Others IRAK4 NCBI