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	IL6
Previous Symbol	IFNB2
Symbol Alias	IL-6, BSF2, HGF, HSF
Approved Name	interleukin 6
Previous Name	interleukin 6 (interferon, beta 2)
Name Alias	interferon, beta 2
Location	7p21-p15
Position	chr7:22725884-22732002, 1
External Links	HGNC: 6018 Entrez Gene: 3569 Ensembl: ENSG00000136244 UCSC: uc003svj.4
No. of Studies	1 (Positive: 0; Negative: 1; 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
Clerici, M.,2009	Other variant: IL6_174G/C	The distribution of cytokines interleukin (IL)-6 polymorphism was not significantly different in the BD group.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 102)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031175	neuron projection development	biological process	IMP[3264880]	10
GO:0005125	cytokine activity	molecular function	IDA[3023045]; NAS[10443688]	13
GO:0006954	inflammatory response	biological process	IDA[10443688]	23
GO:0045765	regulation of angiogenesis	biological process	IC[8557680]	4

GO terms by database search (count: 98)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0032722	positive regulation of chemokine production	biological process	IDA[10510402]; NAS[16034137]	4
GO:0050710	negative regulation of cytokine secretion	biological process	IEA	2
GO:0050830	defense response to Gram-positive bacterium	biological process	TAS[16034137]	7
GO:0033160	positive regulation of protein import into nucleus, translocation	biological process	IEA	2
GO:0050829	defense response to Gram-negative bacterium	biological process	TAS[16034137]	3
GO:0060664	epithelial cell proliferation involved in salivary gland morphogenesis	biological process	IEA	3
GO:0051602	response to electrical stimulus	biological process	IEA	11
GO:0008284	positive regulation of cell proliferation	biological process	IDA[2261637]; IMP[18719127]	44
GO:0045666	positive regulation of neuron differentiation	biological process	IEA	8
GO:0043200	response to amino acid	biological process	IEA	6
GO:0046888	negative regulation of hormone secretion	biological process	IEA	1
GO:0070301	cellular response to hydrogen peroxide	biological process	IDA[19168699]	4
GO:0042102	positive regulation of T cell proliferation	biological process	IDA[3130269]	6
GO:0008285	negative regulation of cell proliferation	biological process	IEA	41
GO:0005896	interleukin-6 receptor complex	cellular component	IDA[12829785]	1
GO:0071356	cellular response to tumor necrosis factor	biological process	IEA	7
GO:0002690	positive regulation of leukocyte chemotaxis	biological process	TAS[16034137]	1
GO:0009408	response to heat	biological process	IEA	12
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[7749983]	11
GO:0060445	branching involved in salivary gland morphogenesis	biological process	IEA	3
GO:0046849	bone remodeling	biological process	IEA	2
GO:0051897	positive regulation of protein kinase B signaling	biological process	IEA	11
GO:2000366	positive regulation of STAT protein import into nucleus	biological process	IC[17324931]	2
GO:0030168	platelet activation	biological process	TAS[7831669]	22
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	IEA	14
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	biological process	IDA[7508917]	12
GO:0051024	positive regulation of immunoglobulin secretion	biological process	IDA[3491322]	3
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0001781	neutrophil apoptotic process	biological process	IDA[7595060]	3
GO:0045429	positive regulation of nitric oxide biosynthetic process	biological process	IEA	13
GO:0072540	T-helper 17 cell lineage commitment	biological process	ISS	1
GO:0008360	regulation of cell shape	biological process	IEA	16
GO:0045599	negative regulation of fat cell differentiation	biological process	NAS[16464856]	7
GO:0016049	cell growth	biological process	IEA	7
GO:0019221	cytokine-mediated signaling pathway	biological process	IDA[12643274]	23
GO:0010888	negative regulation of lipid storage	biological process	NAS[16464856]	2
GO:0042593	glucose homeostasis	biological process	IEA	19
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	IDA[10510402]	11
GO:0002675	positive regulation of acute inflammatory response	biological process	IDA[2444978]	2
GO:0032966	negative regulation of collagen biosynthetic process	biological process	IDA[12419823]	2
GO:0031667	response to nutrient levels	biological process	IEA	7
GO:2000676	positive regulation of type B pancreatic cell apoptotic process	biological process	TAS[18719127]	2
GO:0010574	regulation of vascular endothelial growth factor production	biological process	IDA[8557680]	2
GO:1901215	negative regulation of neuron death	biological process	IEA	6
GO:0070091	glucagon secretion	biological process	ISS[18719127]	1
GO:0046427	positive regulation of JAK-STAT cascade	biological process	IDA[12419823]	3
GO:0006469	negative regulation of protein kinase activity	biological process	IEA	7
GO:0051384	response to glucocorticoid	biological process	IDA[10443688]	11
GO:0045630	positive regulation of T-helper 2 cell differentiation	biological process	IEA	2
GO:0005138	interleukin-6 receptor binding	molecular function	IPI[12829785]; IPI[12829785]; NAS[1883960]	1
GO:0046716	muscle cell cellular homeostasis	biological process	IEA	4
GO:0007568	aging	biological process	IEA	22
GO:0045669	positive regulation of osteoblast differentiation	biological process	TAS[12372336]	7
GO:0002384	hepatic immune response	biological process	IDA[2444978]; TAS[12832423]	1
GO:0045740	positive regulation of DNA replication	biological process	IEA	7
GO:0071222	cellular response to lipopolysaccharide	biological process	IMP[23776175]	12
GO:0042493	response to drug	biological process	IEA	57
GO:0050679	positive regulation of epithelial cell proliferation	biological process	IEA	9
GO:0051092	positive regulation of NF-kappaB transcription factor activity	biological process	IDA[12419823]	12
GO:0032868	response to insulin	biological process	IEA	10
GO:0031000	response to caffeine	biological process	IEA	3
GO:0008083	growth factor activity	molecular function	IDA[12643274]	15
GO:0032494	response to peptidoglycan	biological process	NAS[16034137]	1
GO:0045454	cell redox homeostasis	biological process	IEA	4
GO:0045727	positive regulation of translation	biological process	IDA[16732314]	4
GO:0070102	interleukin-6-mediated signaling pathway	biological process	IDA[12552091]	1
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IEA	5
GO:0005515	protein binding	molecular function	IPI[11238858]	563
GO:0006959	humoral immune response	biological process	IC[3491322]	5
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[7749983]	58
GO:0002446	neutrophil mediated immunity	biological process	TAS[16034137]	4
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[17324931]	91
GO:0051971	positive regulation of transmission of nerve impulse	biological process	IEA	3
GO:0045721	negative regulation of gluconeogenesis	biological process	IEA	4
GO:0005576	extracellular region	cellular component	TAS	97
GO:0071549	cellular response to dexamethasone stimulus	biological process	IEA	4
GO:0071347	cellular response to interleukin-1	biological process	IEA	3
GO:0006953	acute-phase response	biological process	TAS[12832423]	3
GO:0051607	defense response to virus	biological process	IDA[3023045]	6
GO:0032755	positive regulation of interleukin-6 production	biological process	IDA[10510402]	8
GO:0010996	response to auditory stimulus	biological process	IEA	4
GO:0050871	positive regulation of B cell activation	biological process	IDA[3491322]	1
GO:0002548	monocyte chemotaxis	biological process	IC[10510402]	3
GO:0043066	negative regulation of apoptotic process	biological process	IDA[7595060]	46
GO:0005615	extracellular space	cellular component	IDA[10443688]	85
GO:0042832	defense response to protozoan	biological process	IEA	3
GO:0045188	regulation of circadian sleep/wake cycle, non-REM sleep	biological process	IEA	2
GO:0009897	external side of plasma membrane	cellular component	IEA	21
GO:0048635	negative regulation of muscle organ development	biological process	IEA	1
GO:0046677	response to antibiotic	biological process	IEA	4
GO:0033138	positive regulation of peptidyl-serine phosphorylation	biological process	IDA[7508917]	10
GO:0045079	negative regulation of chemokine biosynthetic process	biological process	ISS	1
GO:0043065	positive regulation of apoptotic process	biological process	IDA[9949178]	25
GO:0043410	positive regulation of MAPK cascade	biological process	IDA[12419823]	13
GO:0031018	endocrine pancreas development	biological process	ISS[18719127]	6
GO:0051592	response to calcium ion	biological process	IEA	7
GO:0009409	response to cold	biological process	IEA	7
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	biological process	IDA[12643274]	2

Gene related KEGG pathways (count: 6)

KEGG pathways by PBA (count: 0)

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
hsa04630	Jak-STAT signaling pathway	14
hsa04640	Hematopoietic cell lineage	5
hsa05060	Prion disease	7
hsa04620	Toll-like receptor signaling pathway	10

Gene related BioCarta pathways (count: 12)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 12)

ID	Name	No. of Genes in BDgene
LDLpathway	Low-density lipoprotein (LDL) pathway during atherogenesis	2
cytokinePathway	Cytokine Network	4
il5Pathway	IL 5 Signaling Pathway	2
LairPathway	Cells and Molecules involved in local acute inflammatory response	2
stemPathway	Regulation of hematopoiesis by cytokines	1
il6Pathway	IL 6 signaling pathway	3
il17Pathway	IL 17 Signaling Pathway	1
il10Pathway	IL-10 Anti-inflammatory Signaling Pathway	4
her2Pathway	Role of ERBB2 in Signal Transduction and Oncology	7
inflamPathway	Cytokines and Inflammatory Response	4
il1rPathway	Signal transduction through IL1R	5
erythPathway	Erythrocyte Differentiation Pathway	2

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
IL6	IL6ST	NO	in vivo	14557255
IL6	SH3GL2	NO	yeast 2-hybrid	16169070
IL6	IL6R	NO	in vitro;in vivo	14557255 , 12829785
IL6	PTHLH	NO	in vitro	12000745
IL6	ZBTB16	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (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)
IL6_174G/C	point mutation		1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

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

Gene relationship with SZ

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

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
20393813	870	Positive
19914334	870	Negative

Gene relationship with MDD

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

Reference	Description	Category in MDD
19890236	The genotype distribution was significantly different between MDD and control (P< .001)	Positive

Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference	Description	Category in MDD	Link in MK4MDD
16244501	No significant differences were demonstrated for the genotype or allele frequency of the IL-6 polymorphism when comparing the MDD and control groups	Neg	IL6
24424390	Thirty-four of the 47 monocyte inflammatory-related genes were significantly upregulated and 2 were significantly downregulated as compared to controls	Pos	IL6

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Region: chr7:22725884..22732002 View in gBrowse