Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3606
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL18   Gene   UCSC   Ensembl
Aliases IGIF, IL-18, IL-1g, IL1F4
Gene name interleukin 18
Alternate names interleukin-18, IFN-gamma-inducing factor, IL-1 gamma, iboctadekin, interleukin 18 (interferon-gamma-inducing factor), interleukin-1 gamma,
Gene location 11q23.1 (112164116: 112143250)     Exons: 6     NC_000011.10
Gene summary(Entrez) The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]
OMIM 600953

SNPs

rs549908

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000673.2   g.112150193T>A
CM000673.2   g.112150193T>G
NC_000011.10   g.112150193T>A
NC_000011.10   g.112150193T>G
NC_000011.9   g.112020916T>A
NC_000011.9   g.112020916T>G
NG_028143.1   g.18925A>C
NG_028143.1   g.18925A>T
NM_001243211.1   c.93A>C
NM_001243211.1   c.93A>T
NM_001562.3   c.105A>C
NM_001562.3   c.105A>T
NP_001230140.1   p.Ser31=
NP_001553.1   p.Ser35=
XP_011541107.1   p.Ser31=
XP_011541108.1   p.Ser35=

Protein Summary

Protein general information Q14116  

Name: Interleukin 18 (IL 18) (Iboctadekin) (Interferon gamma inducing factor) (IFN gamma inducing factor) (Interleukin 1 gamma) (IL 1 gamma)

Length: 193  Mass: 22,326

Sequence MAAEPVEDNCINFVAMKFIDNTLYFIAEDDENLESDYFGKLESKLSVIRNLNDQVLFIDQGNRPLFEDMTDSDCR
DNAPRTIFIISMYKDSQPRGMAVTISVKCEKISTLSCENKIISFKEMNPPDNIKDTKSDIIFFQRSVPGHDNKMQ
FESSSYEGYFLACEKERDLFKLILKKEDELGDRSIMFTVQNED
Structural information
Interpro:  IPR015529 IPR000975 IPR008996

Pfam:  
PF00340

PDB:  
1J0S 2VXT 3F62 3WO2 3WO3 3WO4 4EEE 4EKX 4HJJ 4R6U 4XFS 4XFT 4XFU
PDBsum:   1J0S 2VXT 3F62 3WO2 3WO3 3WO4 4EEE 4EKX 4HJJ 4R6U 4XFS 4XFT 4XFU

DIP:  
3785
STRING:   ENSP00000280357;
Other Databases GeneCards:  IL18;  Malacards:  IL18

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
IMP biological_process
GO:0001525 angiogenesis
IDA biological_process
GO:0005125 cytokine activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006954 inflammatory response
IDA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007267 cell-cell signaling
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0030101 natural killer cell activ
ation
IEA biological_process
GO:0030155 regulation of cell adhesi
on
IDA biological_process
GO:0030431 sleep
ISS biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0032725 positive regulation of gr
anulocyte macrophage colo
ny-stimulating factor pro
duction
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IDA biological_process
GO:0032819 positive regulation of na
tural killer cell prolife
ration
IDA biological_process
GO:0034105 positive regulation of ti
ssue remodeling
IC biological_process
GO:0042033 chemokine biosynthetic pr
ocess
TAS biological_process
GO:0042088 T-helper 1 type immune re
sponse
IDA biological_process
GO:0042092 type 2 immune response
TAS biological_process
GO:0042094 interleukin-2 biosyntheti
c process
TAS biological_process
GO:0042095 interferon-gamma biosynth
etic process
TAS biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IDA biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IDA biological_process
GO:0042231 interleukin-13 biosynthet
ic process
TAS biological_process
GO:0042253 granulocyte macrophage co
lony-stimulating factor b
iosynthetic process
TAS biological_process
GO:0042346 positive regulation of NF
-kappaB import into nucle
us
IEA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IEA biological_process
GO:0050729 positive regulation of in
flammatory response
IC biological_process
GO:0051142 positive regulation of NK
T cell proliferation
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071407 cellular response to orga
nic cyclic compound
IDA biological_process
GO:0000165 MAPK cascade
IMP biological_process
GO:0001525 angiogenesis
IDA biological_process
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IBA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
IDA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007267 cell-cell signaling
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0030101 natural killer cell activ
ation
IEA biological_process
GO:0030155 regulation of cell adhesi
on
IDA biological_process
GO:0030431 sleep
ISS biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0032725 positive regulation of gr
anulocyte macrophage colo
ny-stimulating factor pro
duction
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IEA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IDA biological_process
GO:0032819 positive regulation of na
tural killer cell prolife
ration
IDA biological_process
GO:0034105 positive regulation of ti
ssue remodeling
IC biological_process
GO:0042033 chemokine biosynthetic pr
ocess
TAS biological_process
GO:0042088 T-helper 1 type immune re
sponse
IDA biological_process
GO:0042092 type 2 immune response
TAS biological_process
GO:0042094 interleukin-2 biosyntheti
c process
TAS biological_process
GO:0042095 interferon-gamma biosynth
etic process
IEA biological_process
GO:0042095 interferon-gamma biosynth
etic process
TAS biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IDA biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IDA biological_process
GO:0042231 interleukin-13 biosynthet
ic process
TAS biological_process
GO:0042253 granulocyte macrophage co
lony-stimulating factor b
iosynthetic process
TAS biological_process
GO:0042346 positive regulation of NF
-kappaB import into nucle
us
IEA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IEA biological_process
GO:0050729 positive regulation of in
flammatory response
IC biological_process
GO:0051142 positive regulation of NK
T cell proliferation
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071407 cellular response to orga
nic cyclic compound
IDA biological_process
GO:0000165 MAPK cascade
IMP biological_process
GO:0001525 angiogenesis
IDA biological_process
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006954 inflammatory response
IDA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007267 cell-cell signaling
TAS biological_process
GO:0030155 regulation of cell adhesi
on
IDA biological_process
GO:0030431 sleep
ISS biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0032725 positive regulation of gr
anulocyte macrophage colo
ny-stimulating factor pro
duction
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IDA biological_process
GO:0032819 positive regulation of na
tural killer cell prolife
ration
IDA biological_process
GO:0034105 positive regulation of ti
ssue remodeling
IC biological_process
GO:0042033 chemokine biosynthetic pr
ocess
TAS biological_process
GO:0042088 T-helper 1 type immune re
sponse
IDA biological_process
GO:0042092 type 2 immune response
TAS biological_process
GO:0042094 interleukin-2 biosyntheti
c process
TAS biological_process
GO:0042095 interferon-gamma biosynth
etic process
TAS biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IDA biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IDA biological_process
GO:0042231 interleukin-13 biosynthet
ic process
TAS biological_process
GO:0042253 granulocyte macrophage co
lony-stimulating factor b
iosynthetic process
TAS biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0050729 positive regulation of in
flammatory response
IC biological_process
GO:0051142 positive regulation of NK
T cell proliferation
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071407 cellular response to orga
nic cyclic compound
IDA biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05152  Tuberculosis
hsa05164  Influenza A
hsa04621  NOD-like receptor signaling pathway
hsa05323  Rheumatoid arthritis
hsa05321  Inflammatory bowel disease
hsa05134  Legionellosis
hsa05132  Salmonella infection
hsa05144  Malaria
hsa05143  African trypanosomiasis
hsa04623  Cytosolic DNA-sensing pathway

Diseases

Associated diseases References
Adenomyosis PMID: 19394601
Aggressive periodontitis PMID: 18983635
Allergic rhinitis KEGG: H01360
Alzheimer's disease PMID: 17299019
Arthritis PMID: 19031096
Asthma PMID: 15932380
Atherosclerosis PMID: 16043644
Atopic dermatitis PMID: 15806006
Atopic dermatitis PMID: 19453784
Atopy PMID: 15005726
Behcet's disease PMID: 17055358
Cancer PMID: 15581980
Celiac disease PMID: 16078996
Chronic Periodontitis PMID: 19811440
Connective tissue diseases PMID: 19527514
Crohn's disease PMID: 16306765
Dermatitis PMID: 17517100
Diabetes PMID: 20061784
Endometriosis PMID: 19855902
Gingivitis PMID: 18930181
Glomerulonephritis PMID: 19420105
Graves disease PMID: 16571086
Hemophilia A PMID: 18781864
Hyperandrogenism PMID: 21244650
Idiopathic recurrent pregnancy loss PMID: 26368793
Implantation failure PMID: 14711545
Juvenile arthritis PMID: 15230817
Liver disease PMID: 19669363
Lupus nephritis PMID: 19074166
Male infertility PMID: 26648778
Metabolic syndrome PMID: 19176284
Mucocutaneous lymph node syndrome PMID: 18484687
Ovarian hyperstimulation syndrome(OHSS) PMID: 26823856
Periodontitis PMID: 15842270
Polycystic ovary syndrome (PCOS) PMID: 14764799
Endometriosis INFBASE14556808
Preeclampsia PMID: 23082474
Recurrent miscarriage PMID: 26368793
Rheumatoid arthritis PMID: 19229765
Rhinitis PMID: 16406079
Sarcoidosis PMID: 16053025
Still's disease KEGG: H01516
Systemic lupus erythematosus PMID: 18683145
Unexplained infertility PMID: 22007253

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19855902 Endometrio
sis

56 (34 infertil
e patients, 22
fertile control
s)
Female infertility
Show abstract
18295214 Endometrio
sis

105 (72 endomet
riosis patients
, 33 controls)
Female infertility IL-12
IL-18
Show abstract
14556808 Endometrio
sis

76 (50 untreate
d endometriosis
, 8 women on Gn
RH agonists for
endometriosis,
8 control women
with normal pe
lvic anatomy wh
o were undergoi
ng tubal ligati
on.)

Show abstract
14998974 Endometrio
sis

54 (39 endometr
iosis patients,
15 control wom
en)
IL-18
COX-2
Show abstract
15136082 Endometrio
sis

44 patients who
underwent lapa
roscopic surger
y for benign gy
necologic disea
ses

Show abstract
20797704 Endometrio
sis
IL-18 (-607 C607A)
219 (135 women
with endometrio
sis, 84 control
s)
IL-18
Show abstract
16963127 Endometrio
sis


IL-18
Show abstract
16084898 Endometrio
sis
IL-2R beta-627*C homozygote, IL-12R beta 1 codon 37, IL-18 105

IL-2R beta
IL-18
Show abstract
22632541 Endometrio
sis

133 PF of patie
nts with endome
triosis
IL-6
IL-18
eotaxin
IL-12(p70)
ICAM-1
GRO-? and MCP-1
Show abstract
16708823 Endometrio
sis


IL-18
Show abstract