BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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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	IL1B
Symbol Alias	IL1F2, IL-1B, IL1-BETA
Approved Name	interleukin 1, beta
Location	2q14
Position	chr2:112829751-112836903, -1
External Links	HGNC: 5992 Entrez Gene: 3553 Ensembl: ENSG00000125538 UCSC: uc002tii.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Papiol, S.,2004	SNP: rs16944 Haplotype: rs16944 - (IL1RN_intron 2_VNTR)(C-VNTR(A2))	IL-1 cluster genetic variability may represent a shared genetic susceptibility factor both for schizophrenia and bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 79)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006954	inflammatory response	biological process	IDA[10748004]; NAS[1919436]	23
GO:0019904	protein domain specific binding	molecular function	IPI[16575408]	24
GO:0005125	cytokine activity	molecular function	IDA[1919436]; IMP[2989698]	13

GO terms by database search (count: 76)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045410	positive regulation of interleukin-6 biosynthetic process	biological process	IEA	2
GO:0043407	negative regulation of MAP kinase activity	biological process	ISS[16865359]	4
GO:0007165	signal transduction	biological process	TAS[10786823]	136
GO:0070487	monocyte aggregation	biological process	IDA[15100360]	1
GO:0007267	cell-cell signaling	biological process	TAS[2989698]	29
GO:0001934	positive regulation of protein phosphorylation	biological process	IDA[10748004]; NAS[16477012]	15
GO:0030213	hyaluronan biosynthetic process	biological process	IDA[15100360]	1
GO:0051092	positive regulation of NF-kappaB transcription factor activity	biological process	IDA[10383454]	12
GO:0030141	secretory granule	cellular component	IEA	14
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	biological process	IDA[18373975]	5
GO:0000165	MAPK cascade	biological process	IMP[21147091]	10
GO:0008285	negative regulation of cell proliferation	biological process	IDA[3493774]	41
GO:0045429	positive regulation of nitric oxide biosynthetic process	biological process	IDA[8383325]	13
GO:0045080	positive regulation of chemokine biosynthetic process	biological process	IEA	3
GO:0035234	ectopic germ cell programmed cell death	biological process	IEA	1
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	biological process	IDA[10748004]	8
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0034116	positive regulation of heterotypic cell-cell adhesion	biological process	IDA[15100360]; NAS[19281832]	2
GO:0033129	positive regulation of histone phosphorylation	biological process	NAS[20018936]	1
GO:0050796	regulation of insulin secretion	biological process	IDA[8383325]	24
GO:0032729	positive regulation of interferon-gamma production	biological process	IDA[20027291]	7
GO:0032757	positive regulation of interleukin-8 production	biological process	IDA[19524870]	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0045766	positive regulation of angiogenesis	biological process	ISS	11
GO:0035066	positive regulation of histone acetylation	biological process	NAS[20018936]	3
GO:0033198	response to ATP	biological process	IEA	5
GO:0010829	negative regulation of glucose transport	biological process	ISS[16865359]	1
GO:0060355	positive regulation of cell adhesion molecule production	biological process	NAS[19281832]	1
GO:0000187	activation of MAPK activity	biological process	IDA[10748004]	14
GO:0046330	positive regulation of JNK cascade	biological process	IBA	4
GO:0007566	embryo implantation	biological process	TAS[16720713]	8
GO:0042346	positive regulation of NF-kappaB import into nucleus	biological process	IDA[18390750]	4
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IBA	14
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IDA[10748004]	3
GO:0009743	response to carbohydrate	biological process	IEA	2
GO:0046827	positive regulation of protein export from nucleus	biological process	NAS[19281832]	3
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[10748004]	11
GO:0045833	negative regulation of lipid metabolic process	biological process	ISS[16865359]	1
GO:0019221	cytokine-mediated signaling pathway	biological process	IDA[10748004]	23
GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	biological process	IDA[20027291]	1
GO:0001660	fever generation	biological process	IEA	2
GO:0032308	positive regulation of prostaglandin secretion	biological process	ISS	4
GO:0050995	negative regulation of lipid catabolic process	biological process	IDA[19032770]	6
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[15100360]	58
GO:0071639	positive regulation of monocyte chemotactic protein-1 production	biological process	IDA[19524870]	1
GO:0042102	positive regulation of T cell proliferation	biological process	IDA[1919436]	6
GO:0045840	positive regulation of mitotic nuclear division	biological process	IMP[2989698]	5
GO:0032611	interleukin-1 beta production	biological process	IEA	2
GO:0071407	cellular response to organic cyclic compound	biological process	IDA[21147091]	5
GO:0005576	extracellular region	cellular component	IDA[20041150]; NAS[1919436]; TAS	97
GO:0032755	positive regulation of interleukin-6 production	biological process	TAS[16865359]	8
GO:0005149	interleukin-1 receptor binding	molecular function	NAS[1919436]	2
GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	biological process	IC[12958148]	1
GO:0014805	smooth muscle adaptation	biological process	NAS[16477012]	1
GO:0002711	positive regulation of T cell mediated immunity	biological process	IC[1919436]	1
GO:0045086	positive regulation of interleukin-2 biosynthetic process	biological process	IMP[2989698]	1
GO:0010628	positive regulation of gene expression	biological process	IDA[21559518]	23
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	biological process	IEA	7
GO:0030730	sequestering of triglyceride	biological process	IDA[19032770]	2
GO:0050766	positive regulation of phagocytosis	biological process	IMP[18201371]	3
GO:0010575	positive regulation vascular endothelial growth factor production	biological process	IDA[12958148]; ISS	5
GO:0030593	neutrophil chemotaxis	biological process	IEA	8
GO:0005615	extracellular space	cellular component	IDA[12483741]; IMP[3493774]	85
GO:0031622	positive regulation of fever generation	biological process	ISS	3
GO:0031663	lipopolysaccharide-mediated signaling pathway	biological process	IDA[21147091]	6
GO:0043491	protein kinase B signaling	biological process	IMP[21147091]	4
GO:0071310	cellular response to organic substance	biological process	IDA[19158679]	5
GO:0006915	apoptotic process	biological process	TAS[9218611]	39
GO:0035690	cellular response to drug	biological process	IDA[19158679]	13
GO:0071260	cellular response to mechanical stimulus	biological process	IEP[19593445]	12
GO:0046627	negative regulation of insulin receptor signaling pathway	biological process	ISS[16865359]	3
GO:0035505	positive regulation of myosin light chain kinase activity	biological process	IDA[18390750]	1
GO:0070164	negative regulation of adiponectin secretion	biological process	ISS[16865359]	1
GO:0006955	immune response	biological process	IEA	19
GO:0060559	positive regulation of calcidiol 1-monooxygenase activity	biological process	IDA[16720713]	3
GO:0050996	positive regulation of lipid catabolic process	biological process	ISS[16865359]	2

Gene related KEGG pathways (count: 8)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04010	MAPK signaling pathway	39
hsa04210	Apoptosis	12

KEGG pathways by database search (count: 6)

ID	Name	No. of Genes in BDgene
hsa05332	Graft-versus-host disease	7
hsa04060	Cytokine-cytokine receptor interaction	17
hsa05010	Alzheimer's disease	4
hsa04940	Type I diabetes mellitus	10
hsa04640	Hematopoietic cell lineage	5
hsa04620	Toll-like receptor signaling pathway	10

Gene related BioCarta pathways (count: 4)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 4)

ID	Name	No. of Genes in BDgene
il1rPathway	Signal transduction through IL1R	5
mspPathway	Msp/Ron Receptor Signaling Pathway	3
il5Pathway	IL 5 Signaling Pathway	2
nthiPathway	NFkB activation by Nontypeable Hemophilus influenzae	5

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
IL1B	MMP2	YES	in vitro	8663297
IL1B	PRTN3	NO	in vivo	10339575
IL1B	IL1R1	NO	in vitro	9062193
IL1B	IL1RAP	NO	in vitro	9820540
IL1B	ADRB2	YES	in vitro	11238007
IL1B	IL1R2	NO	in vitro	7878046
IL1B	CASP4	NO	in vitro	1919001 , 7797510
IL1B	A2M	NO	in vitro;in vivo	9714181 , 2466831

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs16944	chr2:112837290 - 112837290(1)	upstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
IL1B_Chr2:113304498		Exonic	1 (0/0/1)

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: 13)

Reference	ID in SZGene	Result Category
16905295	279	Negative
14985387	279	Positive
16856121	279	Negative
11423178	279	Negative
9323321	279	Negative
9184320	279	Negative
12706488	279	Negative
14681906	279	Trend
19158809	279	Negative
14563376	279	Positive
17610660	279	Negative
11481169	279	Negative
17901998	279	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 4)

Reference	Description	Category in MDD	Link in MK4MDD
19629761	Compared with depressed subjects carrying the -511C allele, depressed subjects who were -511T homozygotes showed a significantly later depression age of onset of 7 years (P = 0.021).	Pos	IL1B
12700687	No significant difference was found in the genetic polymorphism between MDD patients and controls. However, MDD patients who were homozygous for the -511T allele of the IL-1beta gene had a trend of less severity of depressive symptoms and more favorable fluoxetine therapeutic response than -511C carriers.	Pos	IL1B
21465264	A specific haplotype in this gene, composed of the C allele at -31 and the T allele at -511, has a tendency to have a statistically significant difference (p = 0.064) between patients and control group.	Neg	IL1B
24424390	Thirty-four of the 47 monocyte inflammatory-related genes were significantly upregulated and 2 were significantly downregulated as compared to controls	Pos	IL1B

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Region: chr2:112829751..112836903 View in gBrowse