IL1RN (interleukin 1 receptor antagonist)
|
Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3557 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Interleukin 1 receptor antagonist |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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IL1RN |
SynonymsGene synonyms aliases
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DIRA, ICIL-1RA, IL-1RN, IL-1ra, IL-1ra3, IL1F3, IL1RA, IRAP, MVCD4 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q14.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs112879651 |
C>G |
Likely-pathogenic |
Intron variant, stop gained, coding sequence variant |
rs121913161 |
G>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
rs121913162 |
C>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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miRTarBase ID |
miRNA |
Experiments |
Reference |
MIRT437581 |
hsa-miR-125a-5p |
Microarray, qRT-PCR |
22815788 |
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Transcription factors
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|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P18510 |
Protein name |
Interleukin-1 receptor antagonist protein (IL-1RN) (IL-1ra) (IRAP) (ICIL-1RA) (IL1 inhibitor) (Anakinra) |
Protein function |
Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure. |
PDB |
1ILR
,
1ILT
,
1IRA
,
1IRP
,
1ITN
,
2IRT
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00340 |
IL1 |
60 → 173 |
Interleukin-1 / 18 |
Domain |
|
Sequence |
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Sequence length |
177 |
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 |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs-1, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
11803234 |
Gastric cancer |
Hereditary Diffuse Gastric Cancer |
rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 |
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Liver failure |
Liver Failure, Acute |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 |
20644519 |
Autoinflammatory disease |
Autoinflammatory disorder |
rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs-1, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 |
19494219 |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
9176529 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963 |
19192274, 7706905 |
Kidney disease |
Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
9370186 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
16284379, 16106254 |
Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
18474815, 19005744 |
Pulmonary fibrosis |
Pulmonary Fibrosis |
rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 |
18403674 |
Multiple sclerosis |
Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating |
rs104895219, rs-1, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
25458313 |
Sterile multifocal osteomyelitis with periostitis and pustulosis |
Sterile multifocal osteomyelitis with periostitis and pustulosis |
rs121913161, rs121913162, rs-1, rs672601268, rs763872895, rs1340890598 |
|
Colonic neoplasms |
Malignant tumor of colon, Colonic Neoplasms |
rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 |
18987561 |
Arthritis |
Juvenile arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
19565504 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cirrhosis |
Cirrhosis |
rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 |
7637259 |
Osteomyelitis |
Osteomyelitis |
rs10069690, rs11125529, rs10936599, rs7675998, rs2736100, rs2735940, rs398652, rs755017 |
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Alveolitis |
Alveolitis, Fibrosing |
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18403674 |
Anorexia |
Anorexia |
|
25392278 |
Anthracosis |
Anthracosis |
|
20005085 |
Arsenic encephalopathy |
Arsenic Encephalopathy |
|
16835338 |
Bipolar disorder |
Bipolar Disorder |
|
15318032, 23406623 |
Bronchial hyperreactivity |
Bronchial Hyperreactivity |
|
14754758 |
Cerebral ischemia |
Brain Ischemia |
|
9236716 |
Delirium |
Delirium |
|
23385102, 19269948 |
Dermatologic disorders |
Dermatologic disorders |
|
16835338, 7706905 |
Dysthymic disorder |
Dysthymic Disorder |
|
14997019 |
Gastritis |
Gastritis, Atrophic |
|
|
Gout |
Gout |
|
18403674 |
Grand mal status epilepticus |
Grand Mal Status Epilepticus |
|
19010416 |
Hyperkeratosis |
Hyperkeratosis |
|
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Inflammatory myopathy |
Idiopathic Inflammatory Myopathies |
|
10886238 |
Interleukin 1 receptor antagonist deficiency |
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY |
|
19494218, 19494219 |
Juvenile arthritis |
Juvenile psoriatic arthritis |
|
19565504 |
Learning disorders |
Learning Disorders, Adult Learning Disorders, Learning Disturbance, Learning Disabilities |
|
25665855 |
Liver carcinoma |
Liver carcinoma |
|
28284560 |
Myositis |
Myositis, Myositis, Proliferative, Myositis, Focal |
|
10886238 |
Nonconvulsive status epilepticus |
Non-Convulsive Status Epilepticus |
|
19010416 |
Periostitis |
Periostitis |
|
|
Petit mal status |
Petit mal status |
|
19010416 |
Seronegative polyarthritis |
Polyarthritis, Juvenile, Rheumatoid Factor Negative |
|
19565504 |
Polyarthritis, rheumatoid factor positive |
Polyarthritis, Juvenile, Rheumatoid Factor Positive |
|
19565504 |
Prostatic neoplasms |
Prostatic Neoplasms |
|
16284379, 16106254 |
Schnitzler syndrome |
Schnitzler Syndrome |
|
16096327 |
Status epilepticus |
Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical |
|
19010416 |
Still disease |
Juvenile-Onset Still Disease |
|
19565504 |
Stomach neoplasms |
Malignant neoplasm of stomach, Stomach Neoplasms |
|
|
Stomatitis |
Stomatitis |
|
|
Stroke |
Cerebrovascular accident, Acute Cerebrovascular Accidents |
|
12374626 |
|
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