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Aliases for IL1RN Gene

Aliases for IL1RN Gene

  • Interleukin 1 Receptor Antagonist 2 3 5
  • Interleukin-1 Receptor Antagonist Protein 2 3
  • IL1 Inhibitor 3 4
  • ICIL-1RA 3 4
  • IL-1RN 3 4
  • IL-1ra 3 4
  • IL1F3 3 4
  • IL1RA 3 4
  • IRAP 3 4
  • Intracellular Interleukin-1 Receptor Antagonist (IcIL-1ra) 3
  • Intracellular Interleukin-1 Receptor Antagonist 2
  • Intracellular IL-1 Receptor Antagonist Type II 3
  • Type II Interleukin-1 Receptor Antagonist 3
  • Anakinra 4
  • IL-1ra3 3
  • MVCD4 3
  • DIRA 3

External Ids for IL1RN Gene

Previous GeneCards Identifiers for IL1RN Gene

  • GC02P111081
  • GC02P111796
  • GC02P113782
  • GC02P113970
  • GC02P113591
  • GC02P113864
  • GC02P106329
  • GC02P113107
  • GC02P113109
  • GC02P113241
  • GC02P113370

Summaries for IL1RN Gene

Entrez Gene Summary for IL1RN 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 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]

GeneCards Summary for IL1RN Gene

IL1RN (Interleukin 1 Receptor Antagonist) is a Protein Coding gene. Diseases associated with IL1RN include Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis and Microvascular Complications Of Diabetes 4. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and IL-1 signaling pathway. Gene Ontology (GO) annotations related to this gene include cytokine activity and interleukin-1 receptor antagonist activity. An important paralog of this gene is IL36RN.

UniProtKB/Swiss-Prot for IL1RN Gene

  • 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.

Gene Wiki entry for IL1RN Gene

Additional gene information for IL1RN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL1RN Gene

Genomics for IL1RN Gene

GeneHancer (GH) Regulatory Elements for IL1RN Gene

Promoters and enhancers for IL1RN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J113076 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 721.8 -20.6 -20563 3.7 NFIB RAD21 RFX5 YY1 ZNF143 FOS RCOR1 EGR2 ZNF654 RXRA IL1RN IL36B IL1B IL36A IL36RN PSD4 IL36G IL37 PAX8-AS1 IL1A
GH02J113113 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 679.1 +17.4 17399 5.7 EGR1 FOS ETV6 IKZF2 RUNX3 CREM CBFB ZBTB11 ELF1 ZNF592 IL1RN PSD4 IL36B IL1B PAX8-AS1 RNU6-1180P PAX8 IL36G IL1A CBWD2
GH02J113126 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.3 +29.9 29888 5.1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 NFKBIZ PAF1 IL1RN PSD4 PAX8-AS1 RNU6-1180P ENSG00000270019 WASH2P PAX8 IL1F10 IL36RN LINC01191
GH02J113098 Enhancer 0.5 Ensembl dbSUPER 650.7 -1.0 -964 0.4 ATF7 IL1RN IL1F10 PSD4 PAX8-AS1 IL36B RNU6-1180P
GH02J113099 Enhancer 0.2 dbSUPER 650.7 +0.1 71 0.8 IL1RN IL1F10 PSD4 PAX8-AS1 IL36A GC02P113624 GC02P113815
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL1RN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL1RN gene promoter:
  • HFH-3
  • FOXI1
  • POU2F1
  • STAT3
  • POU2F1a

Genomic Locations for IL1RN Gene

Genomic Locations for IL1RN Gene
chr2:113,099,365-113,134,016
(GRCh38/hg38)
Size:
34,652 bases
Orientation:
Plus strand
chr2:113,864,791-113,891,593
(GRCh37/hg19)
Size:
26,803 bases
Orientation:
Plus strand

Genomic View for IL1RN Gene

Genes around IL1RN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL1RN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL1RN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL1RN Gene

Proteins for IL1RN Gene

  • Protein details for IL1RN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18510-IL1RA_HUMAN
    Recommended name:
    Interleukin-1 receptor antagonist protein
    Protein Accession:
    P18510
    Secondary Accessions:
    • A8K4G1
    • Q14628
    • Q53SC2
    • Q7RTZ4
    • Q96GD6
    • Q9UPC0

    Protein attributes for IL1RN Gene

    Size:
    177 amino acids
    Molecular mass:
    20055 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for IL1RN Gene

    Alternative splice isoforms for IL1RN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL1RN Gene

Post-translational modifications for IL1RN Gene

  • Glycosylation at Asn109
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for IL1RN (IL-1ra/IL-1F3)
  • Abcam antibodies for IL1RN

No data available for DME Specific Peptides for IL1RN Gene

Domains & Families for IL1RN Gene

Gene Families for IL1RN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IL1RN: view

No data available for UniProtKB/Swiss-Prot for IL1RN Gene

Function for IL1RN Gene

Molecular function for IL1RN Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
interleukin 1,receptor antagonist,with a secreted and an alternatively spliced intracellular form

Phenotypes From GWAS Catalog for IL1RN Gene

Gene Ontology (GO) - Molecular Function for IL1RN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005149 interleukin-1 receptor binding IEA --
GO:0005150 interleukin-1, Type I receptor binding IPI 1828071
GO:0005151 interleukin-1, Type II receptor binding IPI 1830582
GO:0005152 interleukin-1 receptor antagonist activity TAS 7629520
genes like me logo Genes that share ontologies with IL1RN: view
genes like me logo Genes that share phenotypes with IL1RN: view

Human Phenotype Ontology for IL1RN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL1RN Gene

MGI Knock Outs for IL1RN:

Animal Model Products

miRNA for IL1RN Gene

miRTarBase miRNAs that target IL1RN

Clone Products

  • Addgene plasmids for IL1RN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL1RN Gene

Localization for IL1RN Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL1RN Gene

Isoform 1: Secreted.
Isoform 2: Cytoplasm.
Isoform 3: Cytoplasm.
Isoform 4: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL1RN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for IL1RN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 10443688
GO:0005622 intracellular NAS 7629520
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with IL1RN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL1RN Gene

Pathways & Interactions for IL1RN Gene

genes like me logo Genes that share pathways with IL1RN: view

Gene Ontology (GO) - Biological Process for IL1RN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001660 fever generation IBA --
GO:0006629 lipid metabolic process IEA --
GO:0006954 inflammatory response IEA --
GO:0006955 immune response NAS 7629520
GO:0010469 regulation of signaling receptor activity IEA --
genes like me logo Genes that share ontologies with IL1RN: view

No data available for SIGNOR curated interactions for IL1RN Gene

Drugs & Compounds for IL1RN Gene

(74) Drugs for IL1RN Gene - From: DrugBank, PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rilonacept Approved, Investigational Pharma Target, binder 0
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
Dexamethasone sodium phosphate Pharma 0
AC-201 Pharma 0

(50) Additional Compounds for IL1RN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL1RN: view

Transcripts for IL1RN Gene

mRNA/cDNA for IL1RN Gene

Unigene Clusters for IL1RN Gene

Interleukin 1 receptor antagonist:
Representative Sequences:

Clone Products

  • Addgene plasmids for IL1RN

Alternative Splicing Database (ASD) splice patterns (SP) for IL1RN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - -
SP7: - - -
SP8: - - - - -
SP9:
SP10:

Relevant External Links for IL1RN Gene

GeneLoc Exon Structure for
IL1RN
ECgene alternative splicing isoforms for
IL1RN

Expression for IL1RN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL1RN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL1RN Gene

This gene is overexpressed in Esophagus - Mucosa (x25.2), Minor Salivary Gland (x6.9), Vagina (x4.3), and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for IL1RN Gene

This gene is overexpressed in Cervix (38.6), Saliva (9.9), and Esophagus (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IL1RN Gene



Protein tissue co-expression partners for IL1RN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL1RN Gene:

IL1RN

SOURCE GeneReport for Unigene cluster for IL1RN Gene:

Hs.81134

mRNA Expression by UniProt/SwissProt for IL1RN Gene:

P18510-IL1RA_HUMAN
Tissue specificity: The intracellular form of IL1RN is predominantly expressed in epithelial cells.

Evidence on tissue expression from TISSUES for IL1RN Gene

  • Bone marrow(4.6)
  • Pancreas(4.3)
  • Blood(3.2)
  • Skin(3.1)
  • Liver(2.6)
  • Intestine(2.4)
  • Lung(2.4)
  • Stomach(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL1RN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • bone marrow
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IL1RN: view

Orthologs for IL1RN Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL1RN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL1RN 34 33
  • 99.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IL1RN 34 33
  • 84.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL1RN 34 33
  • 82.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Il1rn 16 34 33
  • 81.17 (n)
rat
(Rattus norvegicus)
Mammalia Il1rn 33
  • 78.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IL1RN 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL1RN 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL1B 33
  • 57.42 (n)
Species where no ortholog for IL1RN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL1RN Gene

ENSEMBL:
Gene Tree for IL1RN (if available)
TreeFam:
Gene Tree for IL1RN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL1RN: view image

Paralogs for IL1RN Gene

Paralogs for IL1RN Gene

(2) SIMAP similar genes for IL1RN Gene using alignment to 1 proteins:

  • IL1RA_HUMAN
genes like me logo Genes that share paralogs with IL1RN: view

Variants for IL1RN Gene

Sequence variations from dbSNP and Humsavar for IL1RN Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs114929884 uncertain-significance, Osteomyelitis, sterile multifocal, with periostitis and pustulosis 113,132,866(+) G/A coding_sequence_variant, missense_variant
rs121913161 pathogenic, not-provided, Osteomyelitis, sterile multifocal, with periostitis and pustulosis, not provided 113,131,068(+) G/T coding_sequence_variant, stop_gained
rs121913162 pathogenic, not-provided, Osteomyelitis, sterile multifocal, with periostitis and pustulosis, not provided 113,129,619(+) C/T coding_sequence_variant, stop_gained
rs2232353 uncertain-significance, Osteomyelitis, sterile multifocal, with periostitis and pustulosis 113,127,693(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs2234677 benign, Osteomyelitis, sterile multifocal, with periostitis and pustulosis 113,117,932(+) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IL1RN Gene

Variant ID Type Subtype PubMed ID
esv2720549 CNV deletion 23290073
esv995178 CNV deletion 20482838
nsv1072438 CNV deletion 25765185
nsv508102 OTHER sequence alteration 20534489

Variation tolerance for IL1RN Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL1RN Gene

Human Gene Mutation Database (HGMD)
IL1RN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL1RN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL1RN Gene

Disorders for IL1RN Gene

MalaCards: The human disease database

(74) MalaCards diseases for IL1RN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IL1RN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL1RA_HUMAN
  • Microvascular complications of diabetes 4 (MVCD4) [MIM:612628]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. {ECO:0000269 PubMed:8786086}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Interleukin 1 receptor antagonist deficiency (DIRA) [MIM:612852]: A rare autoinflammatory disease of skin and bone resulting in sterile multifocal osteomyelitis, periostitis, and pustulosis from birth. The term autoinflammatory disease describes a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T-cells. {ECO:0000269 PubMed:19494218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IL1RN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IL1RN: view

No data available for Genatlas for IL1RN Gene

Publications for IL1RN Gene

  1. Genetic susceptibility to different clinical forms of tuberculosis in the Peruvian population. (PMID: 20188863) Taype CA … Shaw MA (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2010) 3 22 44 58
  2. Combined polymorphism analysis of glutathione S-transferase M1/G1 and interleukin-1B (IL-1B)/interleukin 1-receptor antagonist (IL-1RN) and gastric cancer risk in an Omani Arab Population. (PMID: 18779738) Al-Moundhri MS … Tanira M (Journal of clinical gastroenterology 2009) 3 22 44 58
  3. A functional interleukin-1 receptor antagonist polymorphism influences atherosclerosis development. The interleukin-1beta:interleukin-1 receptor antagonist balance in atherosclerosis. (PMID: 19574724) Olofsson PS … Sirsjö A (Circulation journal : official journal of the Japanese Circulation Society 2009) 3 22 44 58
  4. Evaluation of the genetic background of standard-immunosuppressant-related toxicity in a cohort of 200 paediatric renal allograft recipients--a retrospective study. (PMID: 19644155) Grenda R … Kaliciński P (Annals of transplantation 2009) 3 22 44 58
  5. Interleukin-1 receptor antagonist and tumour necrosis factor-alpha gene polymorphisms in Turkish patients with allergic contact dermatitis. (PMID: 19706048) Ertam I … Ozkinay F (Contact dermatitis 2009) 3 22 44 58

Products for IL1RN Gene

  • Addgene plasmids for IL1RN

Sources for IL1RN Gene

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