TNFRSF18 (TNF receptor superfamily member 18)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8784
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF18
Synonyms (NCBI Gene) Gene synonyms aliases
AITR, CD357, ENERGEN, GITR, GITR-D
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+)
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0002687 Process Positive regulation of leukocyte migration IMP 23892569
GO:0005031 Function Tumor necrosis factor receptor activity IEA
GO:0005031 Function Tumor necrosis factor receptor activity TAS 10074428
GO:0005515 Function Protein binding IPI 18040044, 18378892, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603905 11914 ENSG00000186891
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y5U5
Protein name Tumor necrosis factor receptor superfamily member 18 (Activation-inducible TNFR family receptor) (Glucocorticoid-induced TNFR-related protein) (CD antigen CD357)
Protein function Receptor for TNFSF18. Seems to be involved in interactions between activated T-lymphocytes and endothelial cells and in the regulation of T-cell receptor-mediated cell death. Mediated NF-kappa-B activation via the TRAF2/NIK pathway.
PDB 7KHD , 7LAW
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in lymph node, peripheral blood leukocytes and weakly in spleen.
Sequence 
MAQHGAMGAFRALCGLALLCALSLGQRPTGGPGCGPGRLLLGTGTDARCCRVHTTRCCRD
YPGEECCSEWDCMCVQPEFHCGDPCCTTCRHHPCPPGQGVQSQGKFSFGFQCIDCASGTF
SGGHEGHCKPWTDCTQFGFLTVFPGNKTHNAVCVPGSPPAEPLGWLTVVLLAVAACVLLL
TSAQLGLHIWQLRSQCMWPRETQLLLEVPPSTEDARSCQFPEEERGERSAEEKGRLGDLW
V
Sequence length 241
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction   TNFs bind their physiological receptors
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Eczema Eczema N/A N/A GWAS
Show/Hide Text Mining Associations (68)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Inhibit 37035756
Adenocarcinoma Associate 21694467
Adenocarcinoma Mucinous Associate 23382860
Alzheimer Disease Stimulate 20643858
Arthritis Infectious Associate 36190378
Arthritis Juvenile Associate 23121667
Arthritis Psoriatic Associate 39662827
Arthritis Rheumatoid Associate 17359498
Autism Spectrum Disorder Associate 36350625
Autoimmune Diseases Associate 17359498, 17963343