IL1RN (interleukin 1 receptor antagonist)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3557
Gene name Interleukin 1 receptor antagonist
Gene symbol IL1RN
Synonyms (NCBI Gene)
CRMO2DIRAICIL-1RAIL-1RNIL-1raIL-1ra3IL1F3IL1RAIRAPMVCD4
Chromosome 2
Chromosome location 2q14.1
Summary 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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
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
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT437581 hsa-miR-125a-5p MicroarrayqRT-PCR 22815788
MIRT1064430 hsa-miR-1 CLIP-seq
MIRT1064431 hsa-miR-1269 CLIP-seq
MIRT1064432 hsa-miR-1269b CLIP-seq
MIRT1064433 hsa-miR-1275 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NFKB1 Activation 20032313
RELA Activation 20032313
STAT3 Activation 20032313
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001960 Process Negative regulation of cytokine-mediated signaling pathway IEA
GO:0005125 Function Cytokine activity IEA
GO:0005149 Function Interleukin-1 receptor binding IDA 2137200
GO:0005149 Function Interleukin-1 receptor binding IEA
GO:0005150 Function Interleukin-1, type I receptor binding IPI 1828071
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147679 6000 ENSG00000136689
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18510
Protein name Interleukin-1 receptor antagonist protein (IL-1RN) (IL-1ra) (IRAP) (ICIL-1RA) (IL1 inhibitor) (Anakinra)
Protein function Anti-inflammatory antagonist of interleukin-1 family of proinflammatory cytokines such as interleukin-1beta/IL1B and interleukin-1alpha/IL1A. Protects from immune dysregulation and uncontrolled systemic inflammation triggered by IL1 for a range
PDB 1ILR , 1ILT , 1IRA , 1IRP , 2IRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00340 IL1 60 → 173 Interleukin-1 / 18 Domain
Tissue specificity TISSUE SPECIFICITY: The intracellular form of IL1RN is predominantly expressed in epithelial cells.
Sequence
Sequence length 177
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   Interleukin-10 signaling
Interleukin-1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
253
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Likely pathogenic rs2104433206 RCV002264623
Gastric cancer susceptibility after h. pylori infection Pathogenic rs2234663 RCV000015787
IL1RN-related disorder Likely pathogenic rs1011480433 RCV003412253
Interstitial lung disease 2 Likely pathogenic rs763872895 RCV000677223
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs4252004, rs41294742 RCV005895921
RCV005913819
Cholangiocarcinoma Benign rs4251985, rs434792 RCV005918112
RCV005925119
Clear cell carcinoma of kidney Benign rs4252004 RCV005895922
Familial cancer of breast Benign rs4251985, rs4251969, rs434792, rs423904 RCV005918108
RCV005919884
RCV005925117
RCV005925120
Show/Hide Text Mining Associations (347)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 11287019
Acquired Immunodeficiency Syndrome Associate 1531398
Acute Coronary Syndrome Associate 15670034
Acute Kidney Injury Stimulate 23511138, 33348065
Acute Lung Injury Associate 18838927
Acute On Chronic Liver Failure Associate 35502507
Adenocarcinoma Associate 35328735
Adenocarcinoma Inhibit 36790524
Adenocarcinoma of Lung Associate 34475499
adult multisystem inflammatory disease COVID 19 related Associate 36102684