Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	IL1RN
Symbol Alias	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430
Approved Name	interleukin 1 receptor antagonist
Name Alias	interleukin-1 receptor antagonist protein, "intracellular interleukin-1 receptor antagonist"
Location	2q14.2
Position	chr2:113107214-113134016, 1
External Links	HGNC: 6000 Entrez Gene: 3557 Ensembl: ENSG00000136689 UCSC: uc002tjb.3
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Papiol, S.,2004	Haplotype: rs16944 - (IL1RN_intron 2_VNTR)(C-VNTR(A2)) Other variant: IL1RN_intron 2_VNTR	IL-1 cluster genetic variability may represent a shared genetic susceptibility factor both for schizophrenia and bipolar disorder.	Positive	Comment on Study
Rafiei, A., 2013	Other variant: IL1RN_intron 2_VNTR	These findings suggest a positive association between VNTR polymorphism in IL1RN and BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 38)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007565	female pregnancy	biological process	IEA	15
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005125	cytokine activity	molecular function	IBA	13

GO terms by database search (count: 35)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0002439	chronic inflammatory response to antigenic stimulus	biological process	IEA	2
GO:0043507	positive regulation of JUN kinase activity	biological process	IEA	2
GO:0045837	negative regulation of membrane potential	biological process	IEA	1
GO:0005152	interleukin-1 receptor antagonist activity	molecular function	IDA[2137200]; TAS[7629520]	1
GO:0030073	insulin secretion	biological process	IEA	6
GO:0051384	response to glucocorticoid	biological process	IDA[10443688]	11
GO:0045353	interleukin-1 Type II receptor antagonist activity	molecular function	IDA[1830582]	1
GO:0006629	lipid metabolic process	biological process	IEA	10
GO:0019752	carboxylic acid metabolic process	biological process	IEA	1
GO:0071874	cellular response to norepinephrine stimulus	biological process	IEA	2
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0005150	interleukin-1, Type I receptor binding	molecular function	IPI[1828071]	1
GO:0014823	response to activity	biological process	IEA	11
GO:0019233	sensory perception of pain	biological process	IEA	15
GO:0034115	negative regulation of heterotypic cell-cell adhesion	biological process	IDA[2139180]	1
GO:0042493	response to drug	biological process	IEA	57
GO:0001960	negative regulation of cytokine-mediated signaling pathway	biological process	IDA[2137200]	2
GO:0045352	interleukin-1 Type I receptor antagonist activity	molecular function	IDA[1828071]	1
GO:0006953	acute-phase response	biological process	IDA[9185517]	3
GO:0006955	immune response	biological process	NAS[7629520]	19
GO:0014050	negative regulation of glutamate secretion	biological process	IEA	4
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0070555	response to interleukin-1	biological process	IEA	4
GO:0070670	response to interleukin-4	biological process	IEA	1
GO:0005149	interleukin-1 receptor binding	molecular function	IDA[2137200]	2
GO:0005615	extracellular space	cellular component	IDA[10443688]	85
GO:0030336	negative regulation of cell migration	biological process	IEA	12
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005622	intracellular	cellular component	NAS[7629520]	17
GO:0007613	memory	biological process	IEA	22
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0042594	response to starvation	biological process	IEA	8
GO:2000660	negative regulation of interleukin-1-mediated signaling pathway	biological process	IDA[2137200]	1
GO:0001660	fever generation	biological process	IEA	2
GO:0005151	interleukin-1, Type II receptor binding	molecular function	IPI[1830582]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
il1rPathway	Signal transduction through IL1R	5

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
IL1RN	IL1R2	NO	in vivo	1834644
IL1RN	IL1R1	NO	in vitro;in vivo	11641511 , 9062194

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
IL1RN_Chr2:113594121		Intronic, Exonic	1 (0/0/1)
IL1RN_intron 2_VNTR	VNTR	intron 2	2 (1/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q12.3-q22.1	chr2:106700000-141500000	1 (0/1/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p11-q14	chr2:83100000-129100000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
14985387	IL-1 cluster genetic variability may represent a shared genetic susceptibility factor both for schizophrenia and bipolar disorder.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 9)

Reference	ID in SZGene	Result Category
15318032	280	Positive
14563376	280	Positive
17610660	280	Negative
16856121	280	Negative
14985387	280	Positive
16905295	280	Negative
11423178	280	Negative
10208450	280	Positive
19158809	280	Negative

Gene relationship with MDD

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Region: chr2:113107214..113134016 View in gBrowse