Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3557
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL1RN   Gene   UCSC   Ensembl
Aliases DIRA, ICIL-1RA, IL-1RN, IL-1ra, IL-1ra3, IL1F3, IL1RA, IRAP, MVCD4
Gene name interleukin 1 receptor antagonist
Alternate names interleukin-1 receptor antagonist protein, IL1 inhibitor, intracellular IL-1 receptor antagonist type II, intracellular interleukin-1 receptor antagonist (icIL-1ra), type II interleukin-1 receptor antagonist,
Gene location 2q14.1 (113099364: 113134015)     Exons: 11     NC_000002.12
Gene summary(Entrez) 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. 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, Jan 2016]
OMIM 147679

Protein Summary

Protein general information P18510  

Name: Interleukin 1 receptor antagonist protein (IL 1RN) (IL 1ra) (IRAP) (ICIL 1RA) (IL1 inhibitor) (Anakinra)

Length: 177  Mass: 20,055

Tissue specificity: The intracellular form of IL1RN is predominantly expressed in epithelial cells.

Sequence MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVP
IEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAM
EADQPVSLTNMPDEGVMVTKFYFQEDE
Structural information
Interpro:  IPR020877 IPR000975 IPR003297 IPR008996
Prosite:   PS00253

Pfam:  
PF00340

PDB:  
1ILR 1ILT 1IRA 1IRP 1ITN 2IRT
PDBsum:   1ILR 1ILT 1IRA 1IRP 1ITN 2IRT
MINT:   1522172
STRING:   ENSP00000259206;
Other Databases GeneCards:  IL1RN;  Malacards:  IL1RN

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001960 negative regulation of cy
tokine-mediated signaling
pathway
IEA biological_process
GO:0005125 cytokine activity
IBA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IDA molecular_function
GO:0005150 interleukin-1, Type I rec
eptor binding
IPI molecular_function
GO:0005151 interleukin-1, Type II re
ceptor binding
IPI molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IDA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IDA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005622 intracellular
NAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006953 acute-phase response
IDA biological_process
GO:0006955 immune response
NAS biological_process
GO:0030073 insulin secretion
IEA biological_process
GO:0034115 negative regulation of he
terotypic cell-cell adhes
ion
IDA biological_process
GO:0045352 interleukin-1 Type I rece
ptor antagonist activity
IDA molecular_function
GO:0045353 interleukin-1 Type II rec
eptor antagonist activity
IDA molecular_function
GO:0051384 response to glucocorticoi
d
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:2000660 negative regulation of in
terleukin-1-mediated sign
aling pathway
IDA biological_process
GO:2000660 negative regulation of in
terleukin-1-mediated sign
aling pathway
IDA biological_process
GO:0001960 negative regulation of cy
tokine-mediated signaling
pathway
IEA biological_process
GO:0005125 cytokine activity
IBA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IEA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IDA molecular_function
GO:0005150 interleukin-1, Type I rec
eptor binding
IPI molecular_function
GO:0005151 interleukin-1, Type II re
ceptor binding
IPI molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IEA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IDA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IDA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005622 intracellular
NAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006953 acute-phase response
IDA biological_process
GO:0006955 immune response
NAS biological_process
GO:0030073 insulin secretion
IEA biological_process
GO:0031982 vesicle
IEA cellular_component
GO:0034115 negative regulation of he
terotypic cell-cell adhes
ion
IDA biological_process
GO:0045352 interleukin-1 Type I rece
ptor antagonist activity
IDA molecular_function
GO:0045353 interleukin-1 Type II rec
eptor antagonist activity
IDA molecular_function
GO:0051384 response to glucocorticoi
d
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:2000660 negative regulation of in
terleukin-1-mediated sign
aling pathway
IDA biological_process
GO:2000660 negative regulation of in
terleukin-1-mediated sign
aling pathway
IDA biological_process
GO:0005125 cytokine activity
IBA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IDA molecular_function
GO:0005150 interleukin-1, Type I rec
eptor binding
IPI molecular_function
GO:0005151 interleukin-1, Type II re
ceptor binding
IPI molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IDA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
IDA molecular_function
GO:0005152 interleukin-1 receptor an
tagonist activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005622 intracellular
NAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006953 acute-phase response
IDA biological_process
GO:0006955 immune response
NAS biological_process
GO:0034115 negative regulation of he
terotypic cell-cell adhes
ion
IDA biological_process
GO:0045352 interleukin-1 Type I rece
ptor antagonist activity
IDA molecular_function
GO:0045353 interleukin-1 Type II rec
eptor antagonist activity
IDA molecular_function
GO:0051384 response to glucocorticoi
d
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:2000660 negative regulation of in
terleukin-1-mediated sign
aling pathway
IDA biological_process
GO:2000660 negative regulation of in
terleukin-1-mediated sign
aling pathway
IDA biological_process

Diseases

Associated diseases References
Abruptio placentae PMID: 18423886
Acute pancreatitis PMID: 10766448
Aggressive periodontitis PMID: 18723088
Alzheimer's disease PMID: 15201366
Ankylosing spondylitis PMID: 11752505
Arthritis PMID: 12115161
Asthma PMID: 19247692
Autism PMID: 19058789
Bipolar disorder PMID: 19125864
Celiac disease PMID: 16078996
Chronic obstructive pulmonary disease (COPD) PMID: 17380888
Common variable immunodeficiency PMID: 19076825
Connective tissue diseases PMID: 19527514
Crohn's disease PMID: 11686217
Cystic fibrosis PMID: 19009622
Dermatitis PMID: 18416755
Diabetes OMIM: 147679
Duodenal ulcer PMID: 19804405
Dysthymia PMID: 14997019
Endometriosis PMID: 17177339
Epilepsy PMID: 19066720
Familial amyloidosis PMID: 19026124
Febrile seizures PMID: 19135625
Female infertility PMID: 15552530
Gastric cancer OMIM: 147679
Glaucoma PMID: 12913327
Glomerulonephritis PMID: 19280228
Graves disease PMID: 17348243
Impaired spermatogenesis PMID: 17215863
Incomplete maturation arrest PMID: 21235388
Inflammatory bowel disease PMID: 11600466
Irritable bowel syndrome PMID: 19844779
Juvenile arthritis PMID: 15170937
Kawasaki disease PMID: 15900570
Keratoconus PMID: 19043479
Male infertility PMID: 23251650
Multiple sclerosis PMID: 10025794
Nephropathy PMID: 8786086
Omenn syndrome PMID: 17572155
Osteoarthritis PMID: 18808736
Osteolysis PMID: 18821666
Osteoporosis PMID: 18551993
Pancreatitis PMID: 18815552
Pemphigus PMID: 19470040
Periodontitis PMID: 11846196
Polycystic ovary syndrome (PCOS) PMID: 23375040
Polycystic ovary syndrome (PCOS) PMID: 19909950
Endometriosis INFBASE17292896
Polymylagia rheumatica PMID: 11138328
Primary biliary cirrhosis PMID: 11171832
Psoriasis PMID: 9039327
Restenosis PMID: 12082592
Rheumatoid arthritis PMID: 11838837
Schizophrenia PMID: 18583979
Silicosis PMID: 17290743
Spermatogenetic defects PMID: 23869807
Systemic lupus erythematosus PMID: 12111633
Ulcerative colitis PMID: 10500062
Vitiligo PMID: 19129082
Vulvar vestibulitis PMID: 15305821

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17292896 Endometrio
sis

118 patients un
derwent laparos
copy for benign
gynecologic di
seases
IL-1ra
Show abstract