IL1RN (interleukin 1 receptor antagonist)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3557
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 1 receptor antagonist
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL1RN
Synonyms (NCBI Gene) Gene synonyms aliases
CRMO2, DIRA, ICIL-1RA, IL-1RN, IL-1ra, IL-1ra3, IL1F3, IL1RA, IRAP, MVCD4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(60)
miRTarBase ID miRNA Experiments Reference
MIRT437581 hsa-miR-125a-5p Microarray, qRT-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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
NFKB1 Activation 20032313
RELA Activation 20032313
STAT3 Activation 20032313
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147679 6000 ENSG00000136689
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis sterile multifocal osteomyelitis with periostitis and pustulosis rs121913161, rs121913162, rs672601268, rs763872895, rs1340890598 N/A
Interstitial Lung Disease Interstitial lung disease 2 rs763872895 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autoinflammatory Disease Autoinflammatory syndrome N/A N/A ClinVar
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (347)
Associations from Text Mining Disease 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