Gene Gene information from NCBI Gene database.
Entrez ID 8784
Gene name TNF receptor superfamily member 18
Gene symbol TNFRSF18
Synonyms (NCBI Gene)
AITRCD357ENERGENGITRGITR-D
Chromosome 1
Chromosome location 1p36.33
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603905 11914 ENSG00000186891
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEISHMANIASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 20643858 Stimulate
★☆☆☆☆
Found in Text Mining only
Anthracosis Anthracosis BEFREE 25445616
★☆☆☆☆
Found in Text Mining only
Arthritis Infectious Infective arthritis Pubtator 36190378 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 23121667 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 39662827 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 17359498 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 23241113
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 36350625 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 17359498, 17963343 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 22028176
★☆☆☆☆
Found in Text Mining only