Human Gene IL18 (uc001pnb.2)
Description: Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.
RefSeq Summary (NM_001562): 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].
Transcript (Including UTRs)
Position: hg19 chr11:112,013,974-112,034,840 Size: 20,867 Total Exon Count: 6 Strand: -
Coding Region
Position: hg19 chr11:112,014,319-112,025,776 Size: 11,458 Coding Exon Count: 5
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: IL18_HUMAN
DESCRIPTION: RecName: Full=Interleukin-18; Short=IL-18; AltName: Full=Iboctadekin; AltName: Full=Interferon gamma-inducing factor; Short=IFN-gamma-inducing factor; AltName: Full=Interleukin-1 gamma; Short=IL-1 gamma; Flags: Precursor;
FUNCTION: Augments natural killer cell activity in spleen cells and stimulates interferon gamma production in T-helper type I cells.SUBCELLULAR LOCATION: Secreted.SIMILARITY: Belongs to the IL-1 family.WEB RESOURCE: Name=Wikipedia; Note=Interleukin-1 entry; URL="http://en.wikipedia.org/wiki/Interleukin_1";
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): IL18
CDC HuGE Published Literature: IL18
Positive Disease Associations: allergic rhinitis
, Alzheimer's disease
, anti-GAD65 antibody
, asthma
, asthma atopy
, asthma.
, atopic dermatitis
, atopy
, body mass coronary artery bypass graft
, bone marrow transplantation
, collagen disease juvenile arthritis rheumatoid arthritis Still's disease
, Crohn's disease
, Crohn's disease; ulcerative colitis
, dermatitis and eczema
, diabetes, type 1
, hepatitis B
, hepatitis B, chronic
, hepatocellular carcinoma
, IL-18 concentration physical functioning
, IL-18 lupus erythematosus
, IL18 expression level
, Interleukin-18
, latex allergy
, lung cancer
, Mucocutaneous Lymph Node Syndrome
, ovarian cancer
, protein quantitative trait loci
, rheumatoid arthritis
, rhinitis
, sepsis
, Still's disease
Related Studies: allergic rhinitis Kruse S 2003, Polymorphisms in the IL 18 gene are associated with specific sensitization to common allergens and allergic rhinitis., The Journal of allergy and clinical immunology. 2003 Jan;111(1):117-22.
[PubMed 12532106 ]
IL18 might be responsible for the linkage effects seen in the chromosomal region 11q22, which has been found previously with the phenotype sensitization to mite allergen. Thus a suspected direct role of IL18 in the pathogenesis of atopy has been strengthened by the presence of 8 common SNPs in the promoter regions of IL18.
Alzheimer's disease Bossu, P. et al. 2007, Interleukin-18 gene polymorphisms predict risk and outcome of Alzheimer's disease, J Neurol Neurosurg Psychiatry 2007.
[PubMed 17299019 ]
As IL-18 cytokine promoter gene polymorphisms have been previously described to have functional consequences on IL-18 expression, it is possible that individuals with a prevalent IL-18 gene variant have a dysregulated immune response, suggesting that IL-18 mediated immune mechanisms may play a crucial role in AD.
anti-GAD65 antibody Hiromatsu, Y. et al. 2006, IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease, Diabet Med 2006 23(2) 211-5.
[PubMed 16433722 ]
These findings in a Japanese population indicate that Graves disease patients carrying the GG genotype at position -4657 of the promoter of the IL-18 gene or a gene in linkage disequilibrium with the -4675G/-607A/-137G haplotype have a low risk for the development of GAD65Ab in Graves disease.
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MalaCards Disease Associations
MalaCards Gene Search: IL18
Diseases sorted by gene-association score: adult-onset still's disease (36), pleural tuberculosis (20), stachybotrys chartarum (18), uremic pruritus (18), latex allergy (13), acute cystitis (12), gillessen-kaesbach-nishimura syndrome (12), necrotizing fasciitis (11), acute kidney failure (11), sapho syndrome (11), autoinflammation with arthritis and dyskeratosis (10), mercury poisoning (10), pulmonary sarcoidosis (10), inflammatory bowel disease (10), hemophagocytic lymphohistiocytosis (9), acute graft versus host disease (9), lymphadenitis (9), melioidosis (9), synovitis (9), spastic cerebral palsy (9), noma (9), schnitzler syndrome (9), melanoma metastasis (9), smallpox (9), familial cold autoinflammatory syndrome (9), hepatorenal syndrome (8), systemic onset juvenile idiopathic arthritis (8), allergic rhinitis (7), relapsing-remitting multiple sclerosis (7), pulmonary tuberculosis (7), t-cell large granular lymphocyte leukemia (7), plasmodium falciparum malaria (7), sarcoidosis 1 (7), salmonellosis (7), cow milk allergy (7), acute pancreatitis (7), cutaneous lupus erythematosus (7), rheumatoid arthritis (7), inflammatory bowel disease 9 (6), rasmussen encephalitis (6), genital herpes (6), cysticercosis (6), arteriosclerosis obliterans (6), tuberculosis (6), brucellosis (5), necrotizing ulcerative gingivitis (5), arthritis (5), fasciitis (5), listeria meningitis (5), systemic lupus erythematosus (5), thrombocytopenic purpura, autoimmune (5), leukomalacia (5), acute kidney tubular necrosis (4), chronic mucocutaneous candidiasis (4), eosinophilic gastritis (4), atopic dermatitis (4), malaria (4), lung sarcoma (4), asthma (4), inflammatory bowel disease 3 (4), obesity (3), autoinflammation, lipodystrophy, and dermatosis syndrome (2), pulmonary fibrosis, idiopathic (2), oral cavity cancer (1), behcet syndrome (1), diabetes mellitus, insulin-dependent (1), rheumatoid arthritis, systemic juvenile (1), diabetes mellitus, noninsulin-dependent (1)
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR008996 - Cytokine_IL1-like
IPR000975 - Interleukin_1
IPR015529 - Interleukin_18
Pfam Domains: PF00340 - Interleukin-1 / 18
SCOP Domains: 50353 - Cytokine
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on Q14116
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0045515 interleukin-18 receptor binding
Biological Process: GO:0000165 MAPK cascade
GO:0001525 angiogenesis
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007267 cell-cell signaling
GO:0008283 cell proliferation
GO:0010469 regulation of receptor activity
GO:0010628 positive regulation of gene expression
GO:0010744 positive regulation of macrophage derived foam cell differentiation
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0019221 cytokine-mediated signaling pathway
GO:0030101 natural killer cell activation
GO:0030155 regulation of cell adhesion
GO:0030431 sleep
GO:0031663 lipopolysaccharide-mediated signaling pathway
GO:0032148 activation of protein kinase B activity
GO:0032609 interferon-gamma production
GO:0032635 interleukin-6 production
GO:0032725 positive regulation of granulocyte macrophage colony-stimulating factor production
GO:0032729 positive regulation of interferon-gamma production
GO:0032740 positive regulation of interleukin-17 production
GO:0032819 positive regulation of natural killer cell proliferation
GO:0034105 positive regulation of tissue remodeling
GO:0035655 interleukin-18-mediated signaling pathway
GO:0035744 T-helper 1 cell cytokine production
GO:0042033 chemokine biosynthetic process
GO:0042088 T-helper 1 type immune response
GO:0042092 type 2 immune response
GO:0042094 interleukin-2 biosynthetic process
GO:0042095 interferon-gamma biosynthetic process
GO:0042104 positive regulation of activated T cell proliferation
GO:0042119 neutrophil activation
GO:0042231 interleukin-13 biosynthetic process
GO:0042253 granulocyte macrophage colony-stimulating factor biosynthetic process
GO:0042267 natural killer cell mediated cytotoxicity
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0042632 cholesterol homeostasis
GO:0045630 positive regulation of T-helper 2 cell differentiation
GO:0045662 negative regulation of myoblast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0050729 positive regulation of inflammatory response
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051142 positive regulation of NK T cell proliferation
GO:0051897 positive regulation of protein kinase B signaling
GO:0070328 triglyceride homeostasis
GO:0071407 cellular response to organic cyclic compound
GO:1901224 positive regulation of NIK/NF-kappaB signaling
GO:2000556 positive regulation of T-helper 1 cell cytokine production
Cellular Component: GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005829 cytosol
Descriptions from all associated GenBank mRNAs
KJ897054 - Synthetic construct Homo sapiens clone ccsbBroadEn_06448 IL18 gene, encodes complete protein.KR710147 - Synthetic construct Homo sapiens clone CCSBHm_00010060 IL18 (IL18) mRNA, encodes complete protein.E11745 - cDNA encoding polypeptide which induce human interferon-gamma product.AY266351 - Homo sapiens DELTA3PRO-IL-18 (IL18) mRNA, complete cds; alternatively spliced.D49950 - Homo sapiens mRNA for interferon-gamma inducing factor(IGIF), complete cds.BC015863 - Homo sapiens interleukin 18 (interferon-gamma-inducing factor), mRNA (cDNA clone IMAGE:4691511), with apparent retained intron.BC007007 - Homo sapiens interleukin 18 (interferon-gamma-inducing factor), mRNA (cDNA clone MGC:12321 IMAGE:3686124), complete cds.JD071160 - Sequence 52184 from Patent EP1572962.JD365272 - Sequence 346296 from Patent EP1572962.JD534506 - Sequence 515530 from Patent EP1572962.JD292460 - Sequence 273484 from Patent EP1572962.JD183888 - Sequence 164912 from Patent EP1572962.JD138407 - Sequence 119431 from Patent EP1572962.JD344852 - Sequence 325876 from Patent EP1572962.JD325087 - Sequence 306111 from Patent EP1572962.JD366918 - Sequence 347942 from Patent EP1572962.JD185498 - Sequence 166522 from Patent EP1572962.JD534907 - Sequence 515931 from Patent EP1572962.JD366917 - Sequence 347941 from Patent EP1572962.JD171443 - Sequence 152467 from Patent EP1572962.JD179088 - Sequence 160112 from Patent EP1572962.JD204584 - Sequence 185608 from Patent EP1572962.JD324126 - Sequence 305150 from Patent EP1572962.JD126663 - Sequence 107687 from Patent EP1572962.JD455021 - Sequence 436045 from Patent EP1572962.JD173390 - Sequence 154414 from Patent EP1572962.BC007461 - Homo sapiens interleukin 18 (interferon-gamma-inducing factor), mRNA (cDNA clone MGC:12320 IMAGE:3681009), complete cds.JD340770 - Sequence 321794 from Patent EP1572962.JD066239 - Sequence 47263 from Patent EP1572962.JD369017 - Sequence 350041 from Patent EP1572962.JD186523 - Sequence 167547 from Patent EP1572962.JD076471 - Sequence 57495 from Patent EP1572962.JD238294 - Sequence 219318 from Patent EP1572962.JD238293 - Sequence 219317 from Patent EP1572962.JD246960 - Sequence 227984 from Patent EP1572962.JD246959 - Sequence 227983 from Patent EP1572962.JD413412 - Sequence 394436 from Patent EP1572962.JD198111 - Sequence 179135 from Patent EP1572962.JD212722 - Sequence 193746 from Patent EP1572962.AY044641 - Homo sapiens interleukin 18 (IL18) mRNA, complete cds.AF077611 - Homo sapiens interleukin-18 precursor (IL18) mRNA, complete cds.AF380360 - Homo sapiens interleukin 18 precursor, mRNA, complete cds.U90434 - Human interferon-gamma inducing factor precursor (IGIF) mRNA, partial cds.CR541973 - Homo sapiens full open reading frame cDNA clone RZPDo834F1234D for gene IL18, interleukin 18 (interferon-gamma-inducing factor); complete cds, incl. stopcodon.E12009 - cDNA encoding human polypeptide which introduce interferon-gamma product in immunocompetent cell.AB590988 - Synthetic construct DNA, clone: pFN21AE1677, Homo sapiens IL18 gene for interleukin 18, without stop codon, in Flexi system.CR542001 - Homo sapiens full open reading frame cDNA clone RZPDo834B1235D for gene IL18, interleukin 18 (interferon-gamma-inducing factor); complete cds, without stopcodon.CU675489 - Synthetic construct Homo sapiens gateway clone IMAGE:100020242 5' read IL18 mRNA.AK311301 - Homo sapiens cDNA, FLJ18343.JD095663 - Sequence 76687 from Patent EP1572962.JD293649 - Sequence 274673 from Patent EP1572962.JD248501 - Sequence 229525 from Patent EP1572962.JD539714 - Sequence 520738 from Patent EP1572962.JD069145 - Sequence 50169 from Patent EP1572962.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: IGIF, IL18_HUMAN, IL1F4, NM_001562, NP_001553, O75599, Q14116, Q6FGY3UCSC ID: uc001pnb.2RefSeq Accession: NM_001562
Protein: Q14116
(aka IL18_HUMAN)
CCDS: CCDS44731.1 , CCDS58180.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001562.3
exon count:
6 CDS single in 3' UTR:
no
RNA size:
1163
ORF size:
582 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
1364.00 frame shift in genome:
no
% Coverage:
98.62
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.