IRAK4 (interleukin 1 receptor associated kinase 4)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51135 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Interleukin 1 receptor associated kinase 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
IRAK4 |
SynonymsGene synonyms aliases
|
IMD67, IPD1, IRAK-4, NY-REN-64, REN64 |
ChromosomeChromosome number
|
12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q12 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 recurre |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs114951157 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs121908002 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs377584435 |
C>T |
Likely-pathogenic, pathogenic |
Intron variant, missense variant, coding sequence variant, 5 prime UTR variant |
rs758539498 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, intron variant |
rs944235493 |
A>G |
Pathogenic |
Genic downstream transcript variant, intron variant |
rs1443126481 |
G>C,T |
Pathogenic |
5 prime UTR variant, stop gained, intron variant, coding sequence variant, missense variant |
rs1555167566 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant |
rs1555169270 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
rs1565678077 |
T>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs1565688667 |
G>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000287 |
Function |
Magnesium ion binding |
IEA |
|
GO:0002224 |
Process |
Toll-like receptor signaling pathway |
TAS |
21269878 |
GO:0002446 |
Process |
Neutrophil mediated immunity |
IMP |
19663824 |
GO:0002755 |
Process |
MyD88-dependent toll-like receptor signaling pathway |
TAS |
21269878 |
GO:0004672 |
Function |
Protein kinase activity |
EXP |
11960013 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
EXP |
11960013 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IBA |
21873635 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
TAS |
|
GO:0005149 |
Function |
Interleukin-1 receptor binding |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
12496252, 12860405, 19264966, 20485341, 21903422, 23376919, 24316379, 25502805, 25910212, 26871637, 31515488, 32296183 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005615 |
Component |
Extracellular space |
IEA |
|
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IBA |
21873635 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006468 |
Process |
Protein phosphorylation |
IEA |
|
GO:0007254 |
Process |
JNK cascade |
IEA |
|
GO:0010008 |
Component |
Endosome membrane |
TAS |
|
GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
IBA |
21873635 |
GO:0034162 |
Process |
Toll-like receptor 9 signaling pathway |
TAS |
|
GO:0035556 |
Process |
Intracellular signal transduction |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IMP |
22158417 |
GO:0045087 |
Process |
Innate immune response |
TAS |
21269878 |
GO:0048661 |
Process |
Positive regulation of smooth muscle cell proliferation |
IEA |
|
GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
|
GO:0106310 |
Function |
Protein serine kinase activity |
IEA |
|
GO:0106311 |
Function |
Protein threonine kinase activity |
IEA |
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GO:1990266 |
Process |
Neutrophil migration |
IMP |
19663824 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9NWZ3 |
Protein name |
Interleukin-1 receptor-associated kinase 4 (IRAK-4) (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-64) |
Protein function |
Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the |
PDB |
2NRU
,
2NRY
,
2O8Y
,
2OIB
,
2OIC
,
2OID
,
3MOP
,
4RMZ
,
4U97
,
4U9A
,
4XS2
,
4Y73
,
4YO6
,
4YP8
,
4ZTL
,
4ZTM
,
4ZTN
,
5K72
,
5K75
,
5K76
,
5K7G
,
5K7I
,
5KX7
,
5KX8
,
5T1S
,
5T1T
,
5UIQ
,
5UIR
,
5UIS
,
5UIT
,
5UIU
,
5W84
,
5W85
,
6EG9
,
6EGA
,
6EGD
,
6EGE
,
6EGF
,
6F3D
,
6F3E
,
6F3G
,
6F3I
,
6LXY
,
6MOM
,
6N8G
,
6O8U
,
6O94
,
6O95
,
6O9D
,
6RFI
,
6RFJ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07714 |
PK_Tyr_Ser-Thr |
187 → 454 |
Protein tyrosine and serine/threonine kinase |
Domain |
|
Sequence |
|
Sequence length |
460 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Immunodeficiency |
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970 |
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Neutropenia |
Neutropenia |
rs879253882 |
|
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
16537705 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anorexia |
Anoxia-Ischemia, Brain, Anoxia-Ischemia, Cerebral |
|
21925238 |
Anoxic-ischemic encephalopathy |
Anoxic-Ischemic Encephalopathy |
|
21925238 |
Cerebral hypoxia-ischemia |
Cerebral Hypoxia-Ischemia |
|
21925238 |
Hypoxic-ischemic encephalopathy |
Hypoxic-Ischemic Encephalopathy |
|
21925238 |
Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
|
|
Irak4 deficiency |
IRAK4 Deficiency |
|
24316379, 12637671, 17878374, 12925671, 19663824, 21057262 |
Ischemic encephalopathy |
Hypoxia-Ischemia, Brain |
|
21925238 |
Lupus erythematosus |
Lupus Erythematosus, Systemic |
|
28003376 |
Nonbacterial verrucal endocardiosis |
Libman-Sacks Disease |
|
28003376 |
Prostatic neoplasms |
Prostatic Neoplasms |
|
16537705 |
|
|
|