TNFSF18
geneOn this page
Also known as AITRLTL6hGITRL
Summary
TNFSF18 (TNF superfamily member 18, HGNC:11932) is a protein-coding gene on chromosome 1q25.1, encoding Tumor necrosis factor ligand superfamily member 18 (Q9UNG2). Cytokine that binds to TNFRSF18/AITR/GITR.
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells.
Source: NCBI Gene 8995 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 18 total
- MANE Select transcript:
NM_005092
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11932 |
| Approved symbol | TNFSF18 |
| Name | TNF superfamily member 18 |
| Location | 1q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AITRL, TL6, hGITRL |
| Ensembl gene | ENSG00000120337 |
| Ensembl biotype | protein_coding |
| OMIM | 603898 |
| Entrez | 8995 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000404377
RefSeq mRNA: 1 — MANE Select: NM_005092
NM_005092
CCDS: CCDS1305
Canonical transcript exons
ENST00000404377 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000814642 | 173039202 | 173041713 |
| ENSE00001003105 | 173043939 | 173043969 |
| ENSE00001562030 | 173050741 | 173050941 |
Expression profiles
Bgee: expression breadth broad, 98 present calls, max score 78.06.
FANTOM5 (CAGE): breadth broad, TPM avg 1.5011 / max 192.1791, expressed in 258 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15933 | 1.5011 | 258 |
Top tissues by expression
226 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.06 | gold quality |
| gall bladder | UBERON:0002110 | 62.71 | gold quality |
| stromal cell of endometrium | CL:0002255 | 61.84 | gold quality |
| buccal mucosa cell | CL:0002336 | 58.93 | gold quality |
| endothelial cell | CL:0000115 | 55.70 | gold quality |
| cartilage tissue | UBERON:0002418 | 53.79 | silver quality |
| rectum | UBERON:0001052 | 53.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 52.10 | gold quality |
| islet of Langerhans | UBERON:0000006 | 51.81 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 49.22 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 49.08 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 48.24 | gold quality |
| duodenum | UBERON:0002114 | 47.78 | gold quality |
| esophagus mucosa | UBERON:0002469 | 47.75 | gold quality |
| frontal cortex | UBERON:0001870 | 47.27 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 47.18 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 47.16 | gold quality |
| lymph node | UBERON:0000029 | 47.15 | gold quality |
| periodontal ligament | UBERON:0008266 | 47.14 | gold quality |
| colonic epithelium | UBERON:0000397 | 46.99 | gold quality |
| renal glomerulus | UBERON:0000074 | 46.86 | gold quality |
| neocortex | UBERON:0001950 | 46.85 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 46.77 | gold quality |
| nephron tubule | UBERON:0001231 | 46.71 | gold quality |
| vermiform appendix | UBERON:0001154 | 45.92 | gold quality |
| upper leg skin | UBERON:0004262 | 45.65 | silver quality |
| cerebral cortex | UBERON:0000956 | 45.55 | gold quality |
| caecum | UBERON:0001153 | 45.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.60 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TNF
miRNA regulators (miRDB)
13 targeting TNFSF18, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-618 | 97.62 | 67.46 | 861 |
| HSA-MIR-517-5P | 97.13 | 68.43 | 781 |
| HSA-MIR-4689 | 96.97 | 65.79 | 1209 |
| HSA-MIR-6858-5P | 96.05 | 64.59 | 1020 |
| HSA-MIR-4683 | 95.29 | 65.98 | 631 |
| HSA-MIR-6767-3P | 93.99 | 66.01 | 204 |
| HSA-MIR-5684 | 93.17 | 64.85 | 454 |
Literature-anchored findings (GeneRIF, showing 29)
- Upregulation by proinflammatory cytokines suggests GITRL may play important role in ocular immunity. High level of constitutive GITRL expression on photoreceptor inner segments suggests photoreceptors participate in regulation of ocular inflammation. (PMID:15326137)
- Regulates ossteoclasst genersation and substantiate the major role played by the endothelium in bone physiology. (PMID:16179414)
- Using a GITRL-transfected cell line, we demonstrate that GITRL promotes NK cell cytotoxicity and IFN-gamma production. (PMID:16397134)
- GITRL could be a potential candidate for regulation of the ocular immune privilege and the balance between immune privilege and inflammation (PMID:16874737)
- Since regulatory T-cells are localized in the vicinity of GITRL-expressing cells in atopic dermatitis skin, the GITR/GITRL interaction may serve to perpetuate the inflammation locally. (PMID:16955181)
- Constitutive expression of GITRL by tumor cells diminishes natural killer cell antitumor immunity. (PMID:17360848)
- although huGITRL is not capable of alleviating Treg suppression of responder T cells, huGITRL overexpression on monocyte-derived DC enhances their capacity to induce antigen-specific T cell responses (PMID:17449724)
- These observations raise the possibility that the GITRL-mediated inflammatory activation of macrophages is involved in the pathogenesis of inflammatory diseases. (PMID:17602748)
- Levels of AITRL were significantly increased in serum of breast cancer patients (PMID:17914571)
- hGITRL ectodomain displays considerable self-association/dissociation in solution with a dynamic equilibrium between trimeric and monomeric forms over the range of protein concentrations studied. (PMID:18040044)
- identify multiple oligomeric species of hGITRL that possess distinct kinetics of ERK activation. (PMID:18378892)
- The strong correlation of tumor incidence and elevated soluble GITRL levels indicates that soluble GITRL is released from cancers in vivo, leading to impaired NK cell immunosurveillance of tumors (PMID:18689545)
- mechanism of IgG4 induction by regulatory cells involves GITR-GITR-L interactions, IL-10 and TGF-beta. (PMID:18924213)
- The incorporation of an isoleucine zipper motif could markedly improve the costimulation of hsGITRL. (PMID:20228835)
- GITRL expression on Kupffer cells may mediate acute rejection in liver transplantation (PMID:21693309)
- Although GITR transgene costimulation can therapeutically enhance T helper (Th) type 2 cell responses, GITR-GITR ligand interactions are not required for development of Th2-mediated resistance or pathology. (PMID:21705620)
- GITRL upregulation induced by IFN-beta on dendritic cells downregulates CTLA-4 on regulatory T (Treg) cells, facilitating proliferation of anergic Treg cells in multiple sclerosis treatment of multiple sclerosis patients. (PMID:22112394)
- observation suggests a link between cytokine-regulated keratinocyte GITRL expression and its role in inflammatory responses in AD (PMID:22417213)
- Glucocorticoid-induced TNF-related ligand (GITRL) confers pseudoexpression to tumor cells by platelets, which results in GITRL expression by megakaryocytes and their platelet progeny. (PMID:22649191)
- Serum GITRL levels were higher in SLE patients. (PMID:23251213)
- Our findings indicate the possible involvement of GITR-GITRL pathway in the pathogenesis of pSS. (PMID:23935647)
- An increase in GITRL may impair the balance of Th17/Treg, and contribute to the pathopoiesis of Hashimoto’s thyroiditis. (PMID:25429429)
- GITRL modulates the activities of p38 MAPK and STAT3 to promote Th17 cell differentiation in autoimmune arthritis. (PMID:26657118)
- GITRL levels are significantly elevated in rheumatoid arthritis serum and synovial fluid and are positively correlated with autoantibody production in rheumatoid arthritis, suggesting a role of GITRL in the development of rheumatoid arthritis. (PMID:27098050)
- Cultured HCN-2 neurons were incubated at different times with GITRL and/or TRAIL, and thereafter nucleic acid and protein expression were measured. HCN-2 cells do not express GITRL mRNA, but the latter is induced after treatment with TRAIL. Cells did not express the GITRL receptor GITR mRNA, neither in control cultures, nor after treatment with TRAIL. TRAIL, when associated to GITRL, exerted additive toxic effects. (PMID:28524007)
- our studies have demonstrated a critical role of GITRL in modulating the suppressive function of myeloid-derived suppressor cells (PMID:30760623)
- Type I interferons drive the maturation of human DC3s with a distinct costimulatory profile characterized by high GITRL. (PMID:33188059)
- Structures of mouse and human GITR-GITRL complexes reveal unique TNF superfamily interactions. (PMID:33654081)
- A GITRL-mTORC1-GM-CSF Positive Loop Promotes Pathogenic Th17 Response in Primary Sjogren Syndrome. (PMID:38589318)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tnfsf18 | ENSMUSG00000066755 |
| rattus_norvegicus | Tnfsf18 | ENSRNOG00000026607 |
Protein
Protein identifiers
Tumor necrosis factor ligand superfamily member 18 — Q9UNG2 (reviewed: Q9UNG2)
Alternative names: Activation-inducible TNF-related ligand, Glucocorticoid-induced TNF-related ligand
All UniProt accessions (1): Q9UNG2
UniProt curated annotations — full annotation on UniProt →
Function. Cytokine that binds to TNFRSF18/AITR/GITR. Regulates T-cell responses. Can function as costimulator and lower the threshold for T-cell activation and T-cell proliferation. Important for interactions between activated T-lymphocytes and endothelial cells. Mediates activation of NF-kappa-B. Triggers increased phosphorylation of STAT1 and up-regulates expression of VCAM1 and ICAM1. Promotes leukocyte adhesion to endothelial cells. Regulates migration of monocytes from the splenic reservoir to sites of inflammation.
Subunit / interactions. Homodimer. Homotrimer.
Subcellular location. Cell membrane.
Tissue specificity. Expressed at high levels in the small intestine, ovary, testis, kidney and endothelial cells.
Induction. Up-regulated after stimulation by bacterial lipopolysaccharides (LPS).
Similarity. Belongs to the tumor necrosis factor family.
RefSeq proteins (1): NP_005083* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006052 | TNF_dom | Domain |
| IPR008983 | Tumour_necrosis_fac-like_dom | Homologous_superfamily |
| IPR042380 | TNFSF18 | Family |
UniProt features (23 total): strand 12, topological domain 2, helix 2, glycosylation site 2, chain 1, transmembrane region 1, domain 1, disulfide bond 1, turn 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2R32 | X-RAY DIFFRACTION | 1.95 |
| 3B93 | X-RAY DIFFRACTION | 2.2 |
| 2Q1M | X-RAY DIFFRACTION | 2.3 |
| 3B94 | X-RAY DIFFRACTION | 2.5 |
| 7LAW | X-RAY DIFFRACTION | 2.75 |
| 7KHD | X-RAY DIFFRACTION | 2.96 |
| 2R30 | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNG2-F1 | 86.99 | 0.68 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 58–78
Glycosylation sites (2): 129, 161
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5669034 | TNFs bind their physiological receptors |
MSigDB gene sets: 233 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, CREL_01, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_DENDRITIC_CELL_MIGRATION, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE
GO Biological Process (21): adaptive immune response (GO:0002250), T cell proliferation involved in immune response (GO:0002309), positive regulation of leukocyte migration (GO:0002687), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), positive regulation of macrophage chemotaxis (GO:0010759), tumor necrosis factor-mediated signaling pathway (GO:0033209), regulation of T cell proliferation (GO:0042129), positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531), negative regulation of apoptotic process (GO:0043066), regulation of protein-containing complex assembly (GO:0043254), positive regulation of cell adhesion (GO:0045785), positive regulation of inflammatory response (GO:0050729), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), positive regulation of monocyte chemotaxis (GO:0090026), negative regulation of T-helper 17 cell lineage commitment (GO:2000329), regulation of dendritic cell chemotaxis (GO:2000508), immune system process (GO:0002376), immune response (GO:0006955), regulation of macromolecule metabolic process (GO:0060255), regulation of primary metabolic process (GO:0080090)
GO Molecular Function (6): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), tumor necrosis factor receptor binding (GO:0005164), tumor necrosis factor receptor superfamily binding (GO:0032813), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| TNFR2 non-canonical NF-kB pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune response | 2 |
| T cell proliferation | 2 |
| cell communication | 2 |
| signaling | 2 |
| positive regulation of leukocyte chemotaxis | 2 |
| protein binding | 2 |
| cellular anatomical structure | 2 |
| T cell activation involved in immune response | 1 |
| positive regulation of immune system process | 1 |
| regulation of leukocyte migration | 1 |
| positive regulation of cell migration | 1 |
| leukocyte migration | 1 |
| cellular process | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| regulation of macrophage chemotaxis | 1 |
| macrophage chemotaxis | 1 |
| regulation of granulocyte chemotaxis | 1 |
| positive regulation of macrophage migration | 1 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to tumor necrosis factor | 1 |
| regulation of lymphocyte proliferation | 1 |
| regulation of T cell activation | 1 |
| tyrosine phosphorylation of STAT protein | 1 |
| regulation of tyrosine phosphorylation of STAT protein | 1 |
| positive regulation of peptidyl-tyrosine phosphorylation | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| regulation of cellular component biogenesis | 1 |
| regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| cell adhesion | 1 |
| regulation of cell adhesion | 1 |
| positive regulation of cellular process | 1 |
| inflammatory response | 1 |
| positive regulation of defense response | 1 |
| positive regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| monocyte chemotaxis | 1 |
Protein interactions and networks
STRING
755 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TNFSF18 | TNFRSF18 | Q9Y5U5 | 999 |
| TNFSF18 | TNFSF4 | P23510 | 880 |
| TNFSF18 | TNFRSF4 | P43489 | 869 |
| TNFSF18 | TNFSF9 | P41273 | 842 |
| TNFSF18 | TNFRSF9 | Q07011 | 838 |
| TNFSF18 | IDO1 | P14902 | 813 |
| TNFSF18 | IDO2 | Q6ZQW0 | 797 |
| TNFSF18 | A0A087X1L8 | A0A087X1L8 | 783 |
| TNFSF18 | CD27 | P26842 | 768 |
| TNFSF18 | ICOSLG | O75144 | 765 |
| TNFSF18 | CD70 | P32970 | 756 |
| TNFSF18 | TNFRSF14 | Q92956 | 729 |
| TNFSF18 | CTLA4 | P16410 | 710 |
| TNFSF18 | TNFSF15 | O95150 | 700 |
| TNFSF18 | CD28 | P10747 | 691 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TNFSF18 | TNFSF18 | psi-mi:“MI:0407”(direct interaction) | 0.770 |
| TNFSF18 | TNFRSF18 | psi-mi:“MI:0407”(direct interaction) | 0.720 |
| TNFRSF18 | TNFSF18 | psi-mi:“MI:0407”(direct interaction) | 0.720 |
| TNFSF18 | TNFRSF18 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EXOC3L2 | TNFSF18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFSF18 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TNFSF18 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (67): EXOC3L2 (Two-hybrid), VANGL2 (Affinity Capture-MS), POMGNT1 (Affinity Capture-MS), KDSR (Affinity Capture-MS), NRM (Affinity Capture-MS), PEX13 (Affinity Capture-MS), SLC47A1 (Affinity Capture-MS), TMEM160 (Affinity Capture-MS), FAM134C (Affinity Capture-MS), PODXL2 (Affinity Capture-MS), MAN1A2 (Affinity Capture-MS), RTN2 (Affinity Capture-MS), SLC19A2 (Affinity Capture-MS), TMEM70 (Affinity Capture-MS), TMEM56 (Affinity Capture-MS)
ESM2 similar proteins: D5K8A9, O02757, O02765, O35734, O97605, O97626, P04924, P06804, P16599, P23563, P27548, P29965, P31042, P35330, P36939, P36940, P41047, P43303, P43488, P48023, P51749, P59694, P63304, P63305, P63306, P63307, P63308, Q28071, Q539C2, Q5NKV2, Q5U462, Q75N23, Q7TS55, Q861W5, Q8BHK6, Q8IYV9, Q95MQ5, Q9BDM3, Q9BDM7, Q9BDN1
Diamond homologs: Q7TS55, Q9UNG2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
221 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:173050799:A:C | donor_gain | 1.0000 |
| 1:173050824:T:TA | donor_gain | 1.0000 |
| 1:173041711:GTCC:G | acceptor_loss | 0.9900 |
| 1:173041712:TCCTA:T | acceptor_loss | 0.9900 |
| 1:173041713:CCTAT:C | acceptor_loss | 0.9900 |
| 1:173041714:C:T | acceptor_loss | 0.9900 |
| 1:173041715:T:A | acceptor_loss | 0.9900 |
| 1:173041725:A:C | acceptor_gain | 0.9900 |
| 1:173043938:CCAAA:C | donor_gain | 0.9900 |
| 1:173043970:C:CC | acceptor_gain | 0.9900 |
| 1:173049022:T:TA | donor_gain | 0.9900 |
| 1:173049023:C:A | donor_gain | 0.9900 |
| 1:173041709:TGGTC:T | acceptor_gain | 0.9800 |
| 1:173041714:C:CC | acceptor_gain | 0.9800 |
| 1:173045967:A:T | acceptor_gain | 0.9800 |
| 1:173041710:GGTC:G | acceptor_gain | 0.9700 |
| 1:173043932:TACT:T | donor_loss | 0.9700 |
| 1:173043937:A:AC | donor_gain | 0.9700 |
| 1:173043938:C:CC | donor_gain | 0.9700 |
| 1:173050736:CTTAC:C | donor_loss | 0.9700 |
| 1:173050737:TTACC:T | donor_loss | 0.9700 |
| 1:173050738:TACC:T | donor_loss | 0.9700 |
| 1:173050739:ACC:A | donor_loss | 0.9700 |
| 1:173041723:A:C | acceptor_gain | 0.9500 |
| 1:173043966:CAGT:C | acceptor_gain | 0.9500 |
| 1:173041712:TC:T | acceptor_gain | 0.9400 |
| 1:173041713:CC:C | acceptor_gain | 0.9400 |
| 1:173041723:A:AC | acceptor_gain | 0.9400 |
| 1:173041725:A:AC | acceptor_gain | 0.9300 |
| 1:173043968:GT:G | acceptor_gain | 0.9300 |
AlphaMissense
1309 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:173041694:C:A | W91C | 0.983 |
| 1:173041694:C:G | W91C | 0.983 |
| 1:173041562:A:C | F135L | 0.982 |
| 1:173041562:A:T | F135L | 0.982 |
| 1:173041564:A:G | F135L | 0.982 |
| 1:173041696:A:G | W91R | 0.981 |
| 1:173041696:A:T | W91R | 0.981 |
| 1:173041618:A:C | Y117D | 0.977 |
| 1:173041641:A:G | L109P | 0.977 |
| 1:173043940:A:C | F84L | 0.974 |
| 1:173043940:A:T | F84L | 0.974 |
| 1:173043942:A:G | F84L | 0.974 |
| 1:173041563:A:C | F135C | 0.972 |
| 1:173041551:A:G | L139P | 0.971 |
| 1:173041452:A:G | L172S | 0.968 |
| 1:173041408:A:G | W187R | 0.967 |
| 1:173041408:A:T | W187R | 0.967 |
| 1:173041445:G:C | F174L | 0.967 |
| 1:173041445:G:T | F174L | 0.967 |
| 1:173041447:A:G | F174L | 0.967 |
| 1:173041635:A:T | I111K | 0.962 |
| 1:173041635:A:C | I111R | 0.956 |
| 1:173041458:A:T | I170K | 0.952 |
| 1:173041635:A:G | I111T | 0.950 |
| 1:173041442:G:C | N175K | 0.949 |
| 1:173041442:G:T | N175K | 0.949 |
| 1:173041563:A:G | F135S | 0.948 |
| 1:173041476:A:G | L164S | 0.944 |
| 1:173041669:A:G | C100R | 0.944 |
| 1:173041413:G:T | T185K | 0.942 |
dbSNP variants (sampled 300 via entrez): RS1000088113 (1:173047230 C>T), RS1000371534 (1:173043765 G>C), RS1000689057 (1:173048933 T>C), RS1000906986 (1:173052297 T>C), RS1001331706 (1:173048549 G>A), RS1002194687 (1:173049614 C>G,T), RS1002254735 (1:173051323 T>C), RS1002694282 (1:173045630 TTTTTTG>T), RS1002704458 (1:173039065 C>T), RS1002897227 (1:173052632 G>A), RS1003307344 (1:173049425 C>T), RS1003685519 (1:173049950 C>T), RS1003724438 (1:173042860 G>A), RS1003753903 (1:173042636 T>C), RS1004338879 (1:173042958 C>T)
Disease associations
OMIM: gene MIM:603898 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000612_38 | Celiac disease | 2.000000e-06 |
| GCST000879_8 | Crohn’s disease | 2.000000e-15 |
| GCST001729_15 | Crohn’s disease | 6.000000e-22 |
| GCST002520_2 | Celiac disease | 8.000000e-07 |
| GCST003097_3 | Pediatric autoimmune diseases | 4.000000e-07 |
| GCST003987_26 | Asthma | 3.000000e-08 |
| GCST004861_32 | Itch intensity from mosquito bite | 4.000000e-08 |
| GCST004866_31 | Alopecia areata | 4.000000e-06 |
| GCST005038_13 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-15 |
| GCST005038_14 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-10 |
| GCST005523_4 | Celiac disease | 8.000000e-09 |
| GCST007797_19 | Asthma onset (childhood vs adult) | 1.000000e-07 |
| GCST007797_36 | Asthma onset (childhood vs adult) | 5.000000e-06 |
| GCST007798_12 | Asthma | 1.000000e-07 |
| GCST007798_13 | Asthma | 7.000000e-12 |
| GCST007800_14 | Asthma (childhood onset) | 8.000000e-29 |
| GCST007800_7 | Asthma (childhood onset) | 6.000000e-13 |
| GCST007800_81 | Asthma (childhood onset) | 1.000000e-07 |
| GCST010984_4 | Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis) | 2.000000e-12 |
| GCST010984_5 | Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis) | 4.000000e-12 |
| GCST010985_11 | Allergic disease (asthma, hay fever and/or eczema) (age of onset) | 2.000000e-11 |
| GCST010985_15 | Allergic disease (asthma, hay fever and/or eczema) (age of onset) | 1.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0004847 | age at onset |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Arsenic Trioxide | increases expression | 2 |
| peracetylated N-azidoacetylmannosamine | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| abrine | increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| PF 3758309 | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Aripiprazole | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Menthol | increases expression | 1 |
| Ozone | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8XD | Ubigene HCT 116 TNFSF18 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): allergic disease, alopecia areata, ankylosing spondylitis, autoimmune disease, autoimmune thyroid disease, celiac disease, childhood onset asthma, common variable immunodeficiency, Crohn disease, juvenile idiopathic arthritis, psoriasis, systemic lupus erythematosus, type 1 diabetes mellitus, ulcerative colitis