Gene Gene information from NCBI Gene database.
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
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.
60
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
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.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147679 6000 ENSG00000136689
Protein Protein information from UniProt database.
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.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   Interleukin-10 signaling
Interleukin-1 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
116
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammatory syndrome Likely pathogenic rs2104433206 RCV002264623
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer susceptibility after h. pylori infection Pathogenic rs2234663 RCV000015787
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IL1RN-related disorder Likely pathogenic rs1011480433 RCV003412253
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Interstitial lung disease 2 Likely pathogenic rs763872895 RCV000677223
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTHRACOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 19026124
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 20630038
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 20630038
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke CTD_human_DG 12374626
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 15670034, 20709104, 29395365
★☆☆☆☆
Found in Text Mining only
Acute encephalopathy Encephalopathy BEFREE 31709864
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23014359
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 10766448, 11331456, 29117667
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19322919
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11920517, 7989495
★☆☆☆☆
Found in Text Mining only