TBX21 T-box transcription factor 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBX21provided by HGNC
Official Full Name: T-box transcription factor 21provided by HGNC
Primary source: HGNC:HGNC:11599
See related: Ensembl:ENSG00000073861 MIM:604895
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: TBET; T-PET; T-bet; TBLYM
Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
Expression: Biased expression in spleen (RPKM 4.5), bone marrow (RPKM 4.1) and 12 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 17q21.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (47733236..47746122)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (45810610..45823485)

Chromosome 17 - NC_000017.11 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?

findings reveal that a high frequency of Eomes(+)T-bet(low) CD8(+) T cells predicts poor clinical outcome in acute myeloid leukemia (AML) and that targeting Eomes may provide a therapeutic benefit against AML
Title: Eomes+T-betlow CD8+ T Cells Are Functionally Impaired and Are Associated with Poor Clinical Outcome in Patients with Acute Myeloid Leukemia.
Decreased IFNgamma expression plus T-bet down-regulation suggested the inhibitory effect of menthol on Th1 cells differentiation and hence imply its possible therapeutic usefulness in inflammatory diseases.
Title: Inhibition of interferon-γ production and T-bet expression by menthol treatment of human peripheral blood mononuclear cells.
OS was significantly improved for patients with high T-bet-expressing TILs in TNBC. Thus, T-bet may be a predictive indicator for survival and various immunotherapy strategies in TNBC.
Title: T-bet+ lymphocytes infiltration as an independent better prognostic indicator for triple-negative breast cancer.
the TBX21-1993 T allele and TC/CC genotypes predispose to Th1-type immune response development in vitro, influence immune response polarization in vivo, and consequently account for the risk for apical periodontitis development.
Title: TBX21-1993T/C polymorphism association with Th1 and Th17 response at periapex and with periapical lesions development risk.
The increase of T-bet expression in the peripheral plasma cells of autoimmune hepatitis patients is associated with liver damage
Title: [Study of the correlation between elevated level of T-bet expression and liver damage in peripheral plasma cells of patients with autoimmune hepatitis].
The single-cell pattern of Eomes and T-bet expression during ontogeny, however, revealed a stereotyped pattern of reciprocal dominance, with immature NK cells expressing higher amounts of Eomes and more mature NK cells marked by greater abundance of T-bet
Title: Eomesodermin and T-bet mark developmentally distinct human natural killer cells.
this study shows that an elevated incidence of donor-stimulated CD8+T cells co-expressing high levels of Eomes and T-bet before kidney transplantation, may correlate with an increased incidence of acute cellular rejection
Title: Characterization of eomesodermin and T-bet expression by allostimulated CD8+ T cells of healthy volunteers and kidney transplant patients in relation to graft outcome.
Clinical remission of sight-threatening non-infectious uveitis has an immunoregulatory phenotype characterized by upregulation of peripheral Treg, polarized toward T-bet and TIGIT.
Title: Clinical Remission of Sight-Threatening Non-Infectious Uveitis Is Characterized by an Upregulation of Peripheral T-Regulatory Cell Polarized Towards T-bet and TIGIT.
Endoplasmic reticulum stress stress-induced mediator CHOP thwarts effector T cell activity in tumors through T-bet repression.
Title: ER stress-induced mediator C/EBP homologous protein thwarts effector T cell activity in tumors through T-bet repression.
The authors propose that NK cells are defined by coexpression of T-bet and Eomes, while ILC1s express only one of these factors, either T-bet or Eomes, depending on the tissue or the species.
Title: T-bet and Eomes govern differentiation and function of mouse and human NK cells and ILC1.

Submit: New GeneRIF Correction See all GeneRIFs (181)

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

Associated conditions

Description	Tests
Asthma, nasal polyps, and aspirin intolerance MedGen: C1859648 OMIM: 208550 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. NHGRI GWA Catalog NHGRI GWA 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of T-bet, Eomesdermin, Blimp-1, Bcl-6, and Bcl-2 in stimulated but not in unstimulated CD8+T lymphocytes	PubMed
	tat	Pretreatment of THP-1 cells with HIV-1 Tat/T-bet co-cultures with CD4+T cells, resulting in increased levels of IFN-gamma	PubMed
	tat	HIV-1 Tat acts as a co-stimulatory molecule that affects viral replication by modulating host immune response through induction of T-bet expression and IFN-gamma secretion	PubMed
Vif	vif	HIV-1 Vif downregulates the expression of T-box 21 (TBX21; T-bet) in Vif-expressing T cells or during HIV-1 infection	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC64996P1 (e-PCR)
- UniSTS:273429

TBX21_2087 (e-PCR)
- UniSTS:281042

NoName (e-PCR)
- UniSTS:482527

D17S806 (e-PCR)
- UniSTS:14319

Homology

Homologs of the TBX21 gene: The TBX21 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 237 organisms have orthologs with human gene TBX21
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
DNA-binding transcription repressor activity, RNA polymerase II-specific	IC Inferred by Curator more info
RNA polymerase II activating transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
T cell differentiation	IEA Inferred from Electronic Annotation more info
cell fate specification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to organic substance	IEA Inferred from Electronic Annotation more info
heart looping	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lymphocyte migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lymphocyte migration	IDA Inferred from Direct Assay more info	PubMed
multicellular organism development	TAS Traceable Author Statement more info	PubMed
negative regulation of T-helper 17 cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of T-helper 17 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of T-helper 2 cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of interleukin-2 production	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of isotype switching to IgG isotypes	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
regulation of T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
regulation of transcription, DNA-templated	TAS Traceable Author Statement more info	PubMed
response to virus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
neuronal cell body	IEA Inferred from Electronic Annotation more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: T-box transcription factor TBX21

Names: T-box 21; T-box expressed in T cells; T-box protein 21; T-cell-specific T-box transcription factor T-bet; transcription factor TBLYM

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.