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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IL1RN Gene

protein-coding GIFtS: 64
GCID: GC02P113864

interleukin 1 receptor antagonist

Explore 324 diseases affiliated with
IL1RN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Interleukin 1 Receptor Antagonist¹ ²		MVCD4² ⁵
ICIL-1RA¹ ² ³		MGC10430¹
IL-1RN¹ ² ³		IL-1ra3²
IL1F3¹ ² ³		IL1RN (IL1F3)²
IL1RA¹ ² ³		Interleukin-1 Receptor Antagonist Protein²
IRAP¹ ² ³		Intracellular IL-1 Receptor Antagonist Type II²
IL-1ra² ³		Intracellular Interleukin-1 Receptor Antagonist (IcIL-1ra)²
IL1 Inhibitor² ³		Type II Interleukin-1 Receptor Antagonist²
DIRA² ⁵		Anakinra³

External Ids:	HGNC: 6000¹	Entrez Gene: 3557²	Ensembl: ENSG00000136689⁷	OMIM: 147679⁵	UniProtKB: P18510³

Export aliases for IL1RN gene to outside databases

Previous GC identifers: GC02P111081 GC02P111796 GC02P113782 GC02P113970 GC02P113591 GC02P106329

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IL1RN:

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. Four alternatively spliced transcript variants encoding distinct isoforms

have been reported. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: IL1RA_HUMAN, P18510

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

Gene Wiki entry for IL1RN (Interleukin 1 receptor antagonist)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022135.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IL1RN gene promoter:
FOXI1 HFH-3 POU2F1 POU2F1a STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): IL1RN promoter sequence

Search SABiosciences Chromatin IP Primers for IL1RN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IL1RN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14.2 Ensembl cytogenetic band: 2q13 HGNC cytogenetic band: 2q14.2

IL1RN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL1RN gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P113864: view genomic region (about GC identifiers)

Start:	113,864,791 bp from pter	End:	113,891,593 bp from pter
Size:	26,803 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IL1RA_HUMAN, P18510 (See protein sequence)

Recommended Name: Interleukin-1 receptor antagonist protein precursor

Size: 177 amino acids; 20055 Da

Subcellular location: Isoform 1: Secreted

Subcellular location: Isoform 2: Cytoplasm

Subcellular location: Isoform 3: Cytoplasm

Subcellular location: Isoform 4: Cytoplasm

6 PDB 3D structures from and Proteopedia for IL1RN:

1ILR (3D)

1ILT (3D)

1IRA (3D)

1IRP (3D)

1ITN (3D)

2IRT (3D)

Secondary accessions: A8K4G1 Q14628 Q53SC2 Q7RTZ4 Q96GD6 Q9UPC0

Alternative splicing: 4 isoforms: P18510-1 P18510-2 P18510-3 P18510-4

Explore the universe of human proteins at neXtProt for IL1RN: NX_P18510

IL1RN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000568.1 NP_776213.1 NP_776214.1 NP_776215.1

ENSEMBL proteins:

ENSP00000387210 ENSP00000354816 ENSP00000259206 ENSP00000329072 ENSP00000387173

Reactome Protein details: P18510
Human Recombinant Protein Products:

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	Uscn Proteins for IL1RN

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	--	--
GO:0005615	extracellular space	IDA	12483741
GO:0005622	intracellular	NAS	7629520
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--

IL1RN for ontologies About GeneDecksing

IL1RN Antibody Products:

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	ThermoFisher Antibody for IL1RN

Assay Products for IL1RN:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for IL1RN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IL1RN for domains About GeneDecksing

5 InterPro domains/families:

IPR020877 Interleukin-1_CS

IPR003297 IL-1RA/IL-36

IPR027166 IL-1RA

IPR008996 Cytokine_IL1-like

IPR000975 Interleukin_1

Graphical View of Domain Structure for InterPro Entry P18510

ProtoNet protein and cluster: P18510

2 Blocks protein families:

IPB000975 Interleukin-1 precursor family signature

IPB003297 Interleukin-1 receptor antagonist precursor IL-1RA signature

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IL1RA_HUMAN, P18510

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 entry for IL1RN:

interleukin 1,receptor antagonist,with a secreted and an alternatively spliced intracellular form

miRNA Products:		OriGene 3'-UTR Clone (see all 4): IL1RN Browse MicroRNA Expression Plasmids
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		hsa-miR-224 hsa-miR-122 hsa-miR-516b hsa-miR-513a-5p
		SwitchGear 3'UTR luciferase reporter plasmid: IL1RN 3' UTR sequence

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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IL1RN
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL1RN

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005149	interleukin-1 receptor binding	IDA	2137200
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
GO:0045352	interleukin-1 Type I receptor antagonist activity	IDA	1828071

IL1RN for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for IL1RN:

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-outs for IL1RN: Il1rn^tm1Nick Il1rn^tm1Dih Il1rn^tm1Sush Il1rn^tm1Yiw
10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Il1rn):

cardiovascular system	cellular	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	mortality/aging	reproductive system	skeleton

IL1RN for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Interleukin-1 signaling

Interleukin-1 signaling

1.00

IL1-mediated signaling events

0.39

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Immune System

Immune System

1.00

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

IL-1 Signaling Pathway

IL-1 Signaling Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for IL1RN

Jak/Stat Pathway

4 BioSystems Pathways for IL1RN

	SIDS Susceptibility Pathways
	IL-1 Signaling Pathway
	Leptin signaling pathway
	IL1-mediated signaling events

4 Reactome Pathways for IL1RN

	Interleukin-1 signaling
	Cytokine Signaling in Immune system
	Signaling by Interleukins
	Immune System

IL1RN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IL1RN

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for IL1RN (P18510^{2, 3} ENSP00000259206⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IL1R1	P14778²^,³, ENSP00000233946⁴	MINT-25085 I2D: score=7 STRING: ENSP00000233946
IL1R2	P27930³, ENSP00000330959⁴	I2D: score=4 STRING: ENSP00000330959
IL1RL2	ENSP00000264257⁴	STRING: ENSP00000264257
POT1	ENSP00000350249⁴	STRING: ENSP00000350249
TERF2IP	ENSP00000300086⁴	STRING: ENSP00000300086

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001960	negative regulation of cytokine-mediated signaling pathway	IDA	2137200
GO:0002439	chronic inflammatory response to antigenic stimulus	IEA	--
GO:0006629	lipid metabolic process	IEA	--
GO:0006953	acute-phase response	IDA	9185517
GO:0006955	immune response	NAS	7629520

IL1RN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IL1RN for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IL1RN
UniProtKB/Swiss-Prot: IL1RA_HUMAN, P18510

Pharmaceutical: Available under the name Kineret (Amgen). Used for the reduction in signs and symptoms and slowing the

progression of structural damage in moderately to severely active rheumatoid arthritis

10/120 Novoseek chemical compound relationships for IL1RN gene (see all 120) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
anakinra	82.8	44	12932294 (3), 16980212 (2), 16751154 (2), 12236617 (1) (see all 33)
endotoxin	66.3	71	11900341 (3), 8219190 (3), 8299563 (2), 7714108 (2) (see all 49)
il 10	62.6	26	18339663 (5), 18832862 (3), 16842617 (2), 16905295 (2) (see all 16)
cellulose triacetate	46.5	6	7890436 (4), 9355078 (1)
neopterin	46.2	18	16273760 (2), 9060965 (2), 8528884 (2), 7814891 (2) (see all 11)
rantes	45.8	21	15645140 (2), 9215253 (2), 16078996 (2), 18225444 (1) (see all 16)
pge2	44.1	41	9416852 (2), 9834469 (2), 7615809 (2), 7593552 (2) (see all 29)
polysulfone	41.7	6	11775226 (3), 15814541 (1), 12784048 (1)
gold sodium thiomalate	39.5	2	7881833 (1)
cuprophan	35.3	8	7890436 (3), 7619385 (1), 10857769 (1), 10879665 (1)

Search CenterWatch for drugs/clinical trials and news about IL1RN / IL1RA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IL1RN gene (4 alternative transcripts):

NM_000577.4 NM_173841.2 NM_173842.2 NM_173843.2

Unigene Cluster for IL1RN:

Interleukin 1 receptor antagonist

Hs.81134 [show with all ESTs]

Unigene Representative Sequence: BC068441

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000465812 ENST00000463073 ENST00000409052(uc002tix.1) ENST00000361779(uc002tiy.3 uc002tja.3)

ENST00000259206(uc002tiz.3) ENST00000354115(uc002tjb.3) ENST00000486167

ENST00000409930 ENST00000472292

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		4 QIAGEN miScript miRNA Assays for microRNAs that regulate IL1RN:
		hsa-miR-224 hsa-miR-122 hsa-miR-516b hsa-miR-513a-5p
		SwitchGear 3'UTR luciferase reporter plasmid: IL1RN 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IL1RN

Additional cDNA sequence:

AF043143.1 AJ005835.1 AK290898.1 AK290926.1 BC009745.2 BC068441.1 M55646.1 X52015.1

X53296.1 X84348.1

10 DOTS entries:

DT.445015 DT.95299944 DT.100036266 DT.100822280 DT.100734138 DT.75180886 DT.92427796 DT.95082557

DT.95299950 DT.95313026

24/157 AceView cDNA sequences (see all 157):

CR625646 M55646 AI983971 CD368886 CB305886 BI335900 BC068441 AW272661

BM978858 AF043143 CR616671 BU626944 AJ005835 CD370507 BU608443 CR605915

AA497140 CA307165 X84348 CR606622 CR619093 CA309172 AA497131 AW004808

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for IL1RN (see all 10) About this scheme

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:							-		-		-		-		-						-		-		-

ECgene alternative splicing isoforms for IL1RN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IL1RN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTGGATCC

About this image

IL1RN expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Respiratory Bronchioles

Basal Cells

Lung

Trachea

Basal Cells

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IL1RN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IL1RN

SOURCE GeneReport for Unigene cluster: Hs.81134

UniProtKB/Swiss-Prot: IL1RA_HUMAN, P18510

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

SABiosciences Expression via Pathway-Focused PCR Arrays including IL1RN (see all 8):

NFKB Signaling Targets in human mouse rat

Inflammatory Response & Autoimmunity in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Inflammatory Cytokines & Receptors in human mouse rat

Common Cytokines in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL1RN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for IL1RN gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Il1rn^{1 , 5}	interleukin 1 receptor antagonist^{1, 5}	81.17(n)¹ 76.27(a)¹		2 (16.36 cM)⁵ 16181¹ NM_001039701.3¹ NP_001034790.1¹ 24336853⁵
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	37(a) 34(a) (see all 3)	many ↔ many many ↔ many (see all 3)	GL343238.1(908975-910584) GL343238.1(853473-858000)

ENSEMBL Gene Tree for IL1RN (if available)
TreeFam Gene Tree for IL1RN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for IL1RN gene

IL36A² IL37² IL36RN² IL36G² IL1F10²

2 SIMAP similar genes for IL1RN using alignment to 1 protein entry: IL1RA_HUMAN:

IL1F10 IL36RN

IL1RN for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121913161^1,2	C,F	pathogenic	107001971(+)	`CCATTG/TAGCCT`	8	E *	stg¹		1		NA	4552
rs4251954^1,2	C,F,	--	106328079(+)	`AACCAC/TATGCC`	3	--	us2k¹		4		NS NA WA	212
rs4251955^1,2	C,F,H,	--	106328351(+)	`ACAAAG/ATTGAC`	3	--	us2k¹		22		NS EA NA WA	2100
rs45626932^1,2		--	106328433(+)	`TGCTTC/TGAAAA`	3	--	us2k¹		2		MN NA	656
rs4251956^1,2	C,F,	--	106328489(+)	`CAAGGC/TGGAAG`	3	--	us2k¹		5		NS NA MN CSA	636
rs4251957^1,2	C,	--	106328535(+)	`CGGTCG/CGGAGC`	3	--	us2k¹		3		NS WA	210
rs36215117^1,2	C,	--	106328562(-)	`GCCCCC/TCACCC`	3	--	us2k¹		0	--	--	--	--
rs4251959^1,2	C,F,	--	106328602(+)	`ACCCCC/AATTCA`	3	--	us2k¹		5		NS NA MN	734
rs4251960^1,2	C,F,	--	106328657(+)	`CTGCAG/AGGTTA`	3	--	us2k¹		3		NS WA	212
rs4252037^1,2	C,F,	--	106328992(+)	`CAGAAG/ATGGTG`	3	--	us2k¹		4		NS NA MN	616

HapMap Linkage Disequilibrium report for IL1RN (113864791 - 113891593 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for IL1RN: --
Human Gene Mutation Database (HGMD): IL1RN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IL1RN

DNA2.0 Custom Variant and Variant Library Synthesis for IL1RN

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IL1RN for disorders           About GeneDecksing

OMIM gene information: 147679
OMIM disorders: 137215  612628  612852
UniProtKB/Swiss-Prot: IL1RA_HUMAN, P18510

Genetic variation in IL1RN is associated with susceptibility to microvascular complications of diabetes type 4

(MVCD4) [MIM:612628]. These are 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

Defects in IL1RN are the cause of interleukin 1 receptor antagonist deficiency (DIRA) [MIM:612852]; also known

as deficiency of interleukin 1 receptor antagonist. Autoinflammatory diseases manifest inflammation without evidence

of infection, high-titer autoantibodies, or autoreactive T-cells. DIRA is a rare, autosomal recessive, genetic

autoinflammatory disease that results in sterile multifocal osteomyelitis (bone inflammation in multiple places),

periostitis (inflammation of the membrane surrounding the bones), and pustulosis (due to skin inflammation) from birth

20/324 diseases for IL1RN (see all 324): About MalaCards

gastric cancer risk after h. pylori infection hyper-igd syndrome deficiency of interleukin-1 receptor antagonist open-angle glaucoma

gastric cancer osteoporotic fracture graft versus host disease pars planitis

adult-onset still's disease polymyalgia rheumatica microvascular complications of diabetes 4 relapsing-remitting multiple sclerosis

h. pylori infection mitral valve prolapse nephropathia epidemica diffuse large b-cell lymphoma

langerhans-cell histiocytosis primary open angle glaucoma sudden infant death syndrome end stage renal failure

5 diseases from the University of Copenhagen DISEASES database for IL1RN:

Schnitzler syndrome Arthritis Familial Mediterranean fever Mevalonic aciduria

Gastritis

10/98 Novoseek disease relationships for IL1RN gene (see all 98) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis	79.6	380	15869054 (3), 18484235 (2), 19334038 (2), 9215253 (2) (see all 99)
inflammation	71.9	141	1825745 (4), 8583293 (4), 1535326 (3), 8144001 (3) (see all 98)
rheumatoid arthritis	69.9	91	15201942 (2), 11477478 (2), 16885604 (2), 7881833 (2) (see all 76)
arthritis	60.8	73	10088773 (4), 10381034 (3), 1834576 (3), 18500247 (2) (see all 45)
tumors	58.2	330	14598359 (6), 16354598 (5), 16489061 (5), 8362978 (4) (see all 99)
systemic inflammatory response syndrome	55.7	14	8124953 (3), 8605344 (3), 8595517 (1), 8379462 (1) (see all 9)
colitis ulcerative	52.2	55	8723412 (6), 10321759 (6), 8680901 (4), 11247888 (4) (see all 26)
response acute phase	51	6	7693853 (1), 9448589 (1), 11180114 (1), 14685103 (1) (see all 6)
osteoarthritis	50.9	24	20131253 (2), 11850718 (2), 11007768 (1), 15880595 (1) (see all 21)
sepsis	50.2	58	8928768 (4), 10382785 (3), 9788457 (3), 15836820 (2) (see all 39)

Genetic Association Database (GAD): IL1RN
Human Genome Epidemiology (HuGE) Navigator: IL1RN (688 documents)

Export disorders for IL1RN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for IL1RN gene, integrated from 9 sources (see all 1887):
(articles sorted by number of sources associating them with IL1RN)

Utopia: connect your pdf to the dynamic
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[The distribution of gene polymorphisms in the intron 2 and exon 2 of interleukin-1 receptor antagonist and their correlation with the serum lipoprotein level] (PubMed id 15231136)^{1, 4, 9} Xu P....Li G.S. (2004)
Cloning and characterization of a new isoform of the interleukin 1 receptor antagonist. (PubMed id 7629520)^{1, 2, 9} Muzio M.... Colotta F. (1995)
Interleukin 1 receptor antagonist is a member of the interleukin 1 gene family: evolution of a cytokine control mechanism. (PubMed id 1828896)^{1, 2, 9} Eisenberg S.P.... Thompson R.C. (1991)
Lack of association of genetic polymorphisms in the interleukin-1beta, interleukin-1 receptor antagonist, interleukin-4 and interleukin-10 genes with mitral valve prolapse in Taiwan Chinese. (PubMed id 12578333)^{1, 4, 9} Chou H.T....Tsai F.J. (2003)
Refined crystal structure of the interleukin-1 receptor antagonist. Presence of a disulfide link and a cis-proline. (PubMed id 7867645)^{1, 2, 9} Schreuder H.A.... Barrett R.W. (1995)
The human IL-1 receptor antagonist gene (IL1RN) maps to chromosome 2q14-q21, in the region of the IL-1 alpha and IL-1 beta loci. (PubMed id 1386337)^{1, 3, 9} Steinkasserer A....Sim R.B. (1992)
[Association of different alleles in interleukin-1 family genes with the coded cytokines production and outcome of sepsis] (PubMed id 15836820)^{1, 4, 9} Yang M.S....Chen D.C. (2005)
Interleukin-8 promoter polymorphism increases the risk of atrophic gastritis and gastric cancer in Japan. (PubMed id 16284368)^{1, 4, 9} Taguchi A....Goto H. (2005)
A functional polymorphism in the IL1B gene promoter, IL1B -31C>T, is not associated with cerebral malaria in Thailand. (PubMed id 16098232)^{1, 4, 9} Ohashi J....Tokunaga K. (2005)
Association study of functional genetic variants of innate immunity related genes in celiac disease. (PubMed id 16078996)^{1, 4, 9} Rueda B....Koeleman B.P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3557	HGNC: 6000	AceView: IL1RN	Ensembl:ENSG00000136689	euGenes: HUgn3557
ECgene: IL1RN	H-InvDB: IL1RN

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for IL1RN	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for IL1RN	Genetics and Cytogenetics in Oncology and Haematology
R&D Systems' cytokine source book: IL-1ra	http://www.rndsystems.com/molecule_detail.aspx?m=1637
Wikipedia	http://en.wikipedia.org/wiki/Interleukin_1
SeattleSNPs	http://pga.gs.washington.edu/data/il1rn/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=IL1RN
Kineret professional medical information"	http://www.rxlist.com/kineret-drug.htm

Intellectual Property for IL1RN gene
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Patent Information for IL1RN gene:
Search GeneIP for patents involving IL1RN

GeneCards and IP:
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IL1RN Gene

interleukin 1 receptor antagonist

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CINCA SYNDROME
Spondylitis Ankylosing
Nephritis
preterm delivery
Genetic Susceptibility
sepsis
Colitis Ulcerative
Myocardial Ischemia
RENAL VASCULITIS
Pancolitis
Atherosclerosis
Metaplasia
Respiratory Distress Syndrome
Edema
Stress Psychological
Malaria Cerebral
Rheumatic Diseases
Toxic Shock Syndrome
Hyperalgesia
Alopecia Areata
Bronchopulmonary Dysplasia
Colorectal Carcinoma
Hypochlorhydria
ADENOCARCINOMA GASTRIC
bone loss
GASTRITIS CHRONIC
Periodontal Diseases
Silicosis
GASTRIC CARCINOMA
Shock
Meningococcal diseases
Bronchoalveolar Lavage Fluid
acute pancreatitis
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SHOCK SYNDROME
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FIBROSIS IDIOPATHIC PULMONARY
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Arthritis Juvenile Rheumatoid
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HYPER-IgD SYNDROME
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Multiple Organ Failure
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IL1RN Gene

interleukin 1 receptor antagonist

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