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TNFRSF18 TNF receptor superfamily member 18 [ Homo sapiens (human) ]

Gene ID: 8784, updated on 15-Apr-2019

Summary

Official Symbol
TNFRSF18provided by HGNC
Official Full Name
TNF receptor superfamily member 18provided by HGNC
Primary source
HGNC:HGNC:11914
See related
Ensembl:ENSG00000186891 MIM:603905
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AITR; GITR; CD357; GITR-D
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(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]
Expression
Biased expression in skin (RPKM 4.0), appendix (RPKM 1.0) and 12 other tissues See more
Orthologs

Genomic context

See TNFRSF18 in Genome Data Viewer
Location:
1p36.33
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (1203508..1207901, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1138888..1142163, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 429 Neighboring gene TTLL10 antisense RNA 1 Neighboring gene tubulin tyrosine ligase like 10 Neighboring gene TNF receptor superfamily member 4 Neighboring gene stromal cell derived factor 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Downstream signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    Downstream signaling in naive CD8+ T cells, organism-specific biosystem
    Downstream signaling in naive CD8+ T cells
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
    TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
  • TNFs bind their physiological receptors, organism-specific biosystem (from REACTOME)
    TNFs bind their physiological receptors, organism-specific biosystemMembers of the tumour necrosis factor superfamily (TNFSF) and TNF receptor superfamily (TNFRSF) have crucial roles in both innate and adaptive immunity. These members are implicated in various acquir...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tumor necrosis factor-activated receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of leukocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of regulatory T cell differentiation TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
tumor necrosis factor receptor superfamily member 18
Names
TNF receptor superfamily activation-inducible protein
activation-inducible TNFR family receptor
glucocorticoid-induced TNFR-related protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004195.3NP_004186.1  tumor necrosis factor receptor superfamily member 18 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004186.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. It contains an extra coding segment, which leads to a frame shift, compared to variant 2. The resulting preotein (isoform 1) contains a distinct and shorter C-terminus, as compared to isoform 2.
    Source sequence(s)
    AF241229, AL162741, AY358877
    Consensus CDS
    CCDS10.1
    UniProtKB/Swiss-Prot
    Q9Y5U5
    Related
    ENSP00000368570.2, ENST00000379268.7
    Conserved Domains (1) summary
    cd13417
    Location:56180
    TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)
  2. NM_148901.1NP_683699.1  tumor necrosis factor receptor superfamily member 18 isoform 2 precursor

    See identical proteins and their annotated locations for NP_683699.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest protein (isoform 2).
    Source sequence(s)
    AF241229, AL162741
    Consensus CDS
    CCDS9.1
    UniProtKB/Swiss-Prot
    Q9Y5U5
    Related
    ENSP00000328207.6, ENST00000328596.10
    Conserved Domains (1) summary
    cd13417
    Location:56178
    TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)
  3. NM_148902.1NP_683700.1  tumor necrosis factor receptor superfamily member 18 isoform 3 precursor

    See identical proteins and their annotated locations for NP_683700.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an extra coding segment, which leads to a frame shift, compared to variant 2. The resulting protein (isoform 3) contains a distinct and shorter C-terminus, as compared to isoform 2.
    Source sequence(s)
    AF117297, AF241229, AL162741
    Consensus CDS
    CCDS30552.1
    UniProtKB/Swiss-Prot
    Q9Y5U5
    Related
    ENSP00000368567.5, ENST00000379265.5
    Conserved Domains (1) summary
    cd13417
    Location:56180
    TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    1203508..1207901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002722.2XP_016858211.1  tumor necrosis factor receptor superfamily member 18 isoform X1

    UniProtKB/TrEMBL
    A0A0R7FDM1
    Conserved Domains (1) summary
    cd13417
    Location:56180
    TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)
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