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

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; AllianceGenome:HGNC:11914
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; ENERGEN
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: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1203508..1206592, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (631965..635049, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1138888..1141972, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GITR Ligation Improves Anti-PD1-Mediated Restoration of Human MMR-Proficient Colorectal Carcinoma Tumor-Derived T Cells.
Title: GITR Ligation Improves Anti-PD1-Mediated Restoration of Human MMR-Proficient Colorectal Carcinoma Tumor-Derived T Cells.
DNA Methylation and mRNA Expression of OX40 (TNFRSF4) and GITR (TNFRSF18, AITR) in Head and Neck Squamous Cell Carcinoma Correlates With HPV Status, Mutational Load, an Interferon-gamma Signature, Signatures of Immune Infiltrates, and Survival.
Title: DNA Methylation and mRNA Expression of OX40 (TNFRSF4) and GITR (TNFRSF18, AITR) in Head and Neck Squamous Cell Carcinoma Correlates With HPV Status, Mutational Load, an Interferon-γ Signature, Signatures of Immune Infiltrates, and Survival.
Glucocorticoid induced TNF receptor family-related protein (GITR) - A novel driver of atherosclerosis.
Title: Glucocorticoid induced TNF receptor family-related protein (GITR) - A novel driver of atherosclerosis.
Phenotypic Changes of PD-1 and GITR in T Cells Are Associated With Hepatitis B Surface Antigen Seroclearance.
Title: Phenotypic Changes of PD-1 and GITR in T Cells Are Associated With Hepatitis B Surface Antigen Seroclearance.
GITR Promotes the Polarization of TFH-Like Cells in Helicobacter pylori-Positive Gastritis.
Title: GITR Promotes the Polarization of TFH-Like Cells in Helicobacter pylori-Positive Gastritis.
Interleukin 3-induced GITR promotes the activation of human basophils.
Title: Interleukin 3-induced GITR promotes the activation of human basophils.
Experimental Medicine Study to Measure Immune Checkpoint Receptors PD-1 and GITR Turnover Rates In Vivo in Humans.
Title: Experimental Medicine Study to Measure Immune Checkpoint Receptors PD-1 and GITR Turnover Rates In Vivo in Humans.
Glucocorticoid-induced tumour necrosis factor receptor family-related protein (GITR) drives atherosclerosis in mice and is associated with an unstable plaque phenotype and cerebrovascular events in humans.
Title: Glucocorticoid-induced tumour necrosis factor receptor family-related protein (GITR) drives atherosclerosis in mice and is associated with an unstable plaque phenotype and cerebrovascular events in humans.
GITR shapes humoral immunity by controlling the balance between follicular T helper cells and regulatory T follicular cells.
Title: GITR shapes humoral immunity by controlling the balance between follicular T helper cells and regulatory T follicular cells.
Structures of mouse and human GITR-GITRL complexes reveal unique TNF superfamily interactions.
Title: Structures of mouse and human GITR-GITRL complexes reveal unique TNF superfamily interactions.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tumor necrosis factor receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of leukocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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)

NM_004195.3 → NP_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

B1AME1, O95851, Q5U0I4, Q9NYJ9, Q9Y5U5

UniProtKB/TrEMBL

A8WFP4

Related

ENSP00000368570.2, ENST00000379268.7

Conserved Domains (1) summary

cd13417
Location:56 → 180

TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)
NM_148901.2 → NP_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:56 → 178

TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)
NM_148902.2 → NP_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/TrEMBL

A8WFP4

Related

ENSP00000368567.5, ENST00000379265.5

Conserved Domains (1) summary

cd13417
Location:56 → 180

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1203508..1206592 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002722.3 → XP_016858211.1 tumor necrosis factor receptor superfamily member 18 isoform X1

UniProtKB/TrEMBL

A0A0R7FDM1

Conserved Domains (1) summary

cd13417
Location:56 → 180

TNFRSF18; Tumor necrosis factor receptor superfamily member 18 (TNFRSF18), also known as glucocorticoid-induced tumor necrosis factor receptor family-related protein (GITR)