Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
51135
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Interleukin 1 receptor associated kinase 4 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IRAK4 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
IMD67, IPD1, IRAK-4, NY-REN-64, REN64 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IMD67 |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q12 |
Summary
Summary 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 |
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
|
Causal |
Disease term |
Disease name |
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, 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, 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 View all (256 more) |
|
Neutropenia |
Neutropenia |
rs879253882 |
|
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
16537705 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Allergic Fungal Sinusitis |
Associate
|
22723975 |
Anemia |
Associate
|
37744344 |
Anti N Methyl D Aspartate Receptor Encephalitis |
Associate
|
33083971 |
Autoimmune Diseases |
Stimulate
|
36234844 |
Bacterial Infections |
Associate
|
17893200, 21057262, 29269280, 37744344 |
Behcet Syndrome |
Associate
|
26785681 |
Breast Neoplasms |
Associate
|
19706770 |
Breast Neoplasms |
Stimulate
|
36234844 |
Burkitt Lymphoma |
Associate
|
29088270 |
Carcinoma Hepatocellular |
Associate
|
30112356 |
Carcinoma Pancreatic Ductal |
Stimulate
|
36234844 |
Chromosome Aberrations |
Associate
|
21057262 |
Colitis Ulcerative |
Associate
|
39328405 |
Colorectal Neoplasms |
Stimulate
|
36234844 |
Common Variable Immunodeficiency |
Associate
|
32047491 |
COVID 19 |
Stimulate
|
34193364 |
Cytokine Release Syndrome |
Associate
|
30112356 |
Death |
Associate
|
17893200 |
Encephalitis |
Associate
|
36205835 |
Gingivitis |
Associate
|
31448244 |
Granuloma Pyogenic |
Associate
|
29269280 |
Heart Arrest |
Stimulate
|
27260481 |
Hematologic Diseases |
Associate
|
37102608 |
Hereditary Autoinflammatory Diseases |
Associate
|
37744344 |
HIV Infections |
Inhibit
|
19703016 |
HIV Infections |
Associate
|
29778672 |
Human Herpesvirus 6 encephalitis |
Associate
|
36205835 |
Immune System Diseases |
Associate
|
27895398, 40397075 |
Immunologic Deficiency Syndromes |
Associate
|
17114497, 26825884, 37744344 |
Infections |
Associate
|
17893200, 21057262, 39299377 |
Inflammation |
Associate
|
17114497, 21057262, 25344726, 26825884, 30997787, 32532880, 35634951, 36040792, 36234844, 36397951, 37744344 |
Inflammatory Bowel Diseases |
Associate
|
30997787 |
Interleukin 2 Receptor Alpha Deficiency of |
Inhibit
|
26825884, 32532880 |
Interleukin 2 Receptor Alpha Deficiency of |
Associate
|
26825884, 32532880 |
Latent Tuberculosis |
Associate
|
29778672 |
Leukemia |
Associate
|
36040792, 37172199 |
Leukemia Myeloid Acute |
Associate
|
31484791, 36040792, 37172199 |
Leukemia Prolymphocytic T Cell |
Associate
|
30537114 |
Lupus Erythematosus Systemic |
Stimulate
|
23497717 |
Lupus Erythematosus Systemic |
Associate
|
34419106 |
Lymphoma B Cell |
Stimulate
|
36234844 |
Lymphoma Large B Cell Diffuse |
Associate
|
21179087 |
Lymphoma Primary Effusion |
Associate
|
32161170 |
Maxillary Sinusitis |
Associate
|
25707370 |
Meningism |
Associate
|
27432718 |
Meningitis Pneumococcal |
Associate
|
26825884, 27432718 |
Mucocutaneous Lymph Node Syndrome |
Associate
|
34193364 |
Myelodysplastic Syndromes |
Associate
|
31011167, 36040792, 36216757, 37102608, 37172199, 40397075 |
Neoplasms |
Associate
|
19318560, 32047491, 36234844 |
Neuroinflammatory Diseases |
Associate
|
37744344 |
Pneumococcal Infections |
Associate
|
16950813, 17893200, 21057262 |
Pneumonia Staphylococcal |
Associate
|
17893200 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
31011167 |
Primary Immunodeficiency Diseases |
Associate
|
16950813, 17893200, 29269280, 30115681 |
Prostatic Neoplasms |
Associate
|
23657238 |
Rhinitis Allergic |
Associate
|
21738793 |
Seizures |
Associate
|
37744344 |
Splenomegaly |
Associate
|
37744344 |
Still's Disease Adult Onset |
Stimulate
|
23497717 |
Tuberculosis Lymph Node |
Associate
|
32532880 |
Tuberculosis Meningeal |
Associate
|
29778672 |
Uveomeningoencephalitic Syndrome |
Associate
|
24690905 |
Virus Diseases |
Associate
|
36205835 |
Waldenstrom Macroglobulinemia |
Associate
|
23836557, 36234844 |
X Linked Combined Immunodeficiency Diseases |
Stimulate
|
36205835 |
|