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; AllianceGenome:HGNC:11599
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; IMD88; 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
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Genomic context

Location:: 17q21.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (47733236..47746122)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (48595046..48607933)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (45810602..45823488)

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?

Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population.
Title: Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population.
Evaluation of the presence of Th1 response through T-bet and IFN-gamma immunohistochemical expression in lower lip and oral tongue squamous cell carcinomas.
Title: Evaluation of the presence of Th1 response through T-bet and IFN-gamma immunohistochemical expression in lower lip and oral tongue squamous cell carcinomas.
TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3beta dependent manner.
Title: TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3β dependent manner.
T-BET and EOMES sustain mature human NK cell identity and antitumor function.
Title: T-BET and EOMES sustain mature human NK cell identity and antitumor function.
Expression analysis of IL-2, TBX21 and SOCS1 in peripheral blood cells of celiac disease patients reveals the diagnostic potential of IL-2.
Title: Expression analysis of IL-2, TBX21 and SOCS1 in peripheral blood cells of celiac disease patients reveals the diagnostic potential of IL-2.
Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study.
Title: Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study.
The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
Title: The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
The Th1 cell regulatory circuitry is largely conserved between human and mouse.
Title: The Th1 cell regulatory circuitry is largely conserved between human and mouse.
SARS-CoV-2 spike-specific memory B cells express higher levels of T-bet and FcRL5 after non-severe COVID-19 as compared to severe disease.
Title: SARS-CoV-2 spike-specific memory B cells express higher levels of T-bet and FcRL5 after non-severe COVID-19 as compared to severe disease.
T-BET and EOMES Accelerate and Enhance Functional Differentiation of Human Natural Killer Cells.
Title: T-BET and EOMES Accelerate and Enhance Functional Differentiation of Human Natural Killer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (202)

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
Immunodeficiency 88 MedGen: C5562026 OMIM: 619630 GeneReviews: Not available	not available

EBI GWAS Catalog

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

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T-helper 1 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in lymphocyte migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in lymphocyte migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 17 cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 17 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 2 cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of interleukin-2 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T-helper 1 cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of isotype switching to IgG isotypes	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to virus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in 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-box transcription factor expressed in T cells; 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.

Genomic

NG_012166.1 RefSeqGene

Range

4993..17879

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013351.2 → NP_037483.1 T-box transcription factor TBX21

Status: REVIEWED

Source sequence(s)

AC015674, AF093098

Consensus CDS

CCDS11514.1

UniProtKB/Swiss-Prot

Q9UL17

UniProtKB/TrEMBL

Q53EK5

Related

ENSP00000177694.1, ENST00000177694.2

Conserved Domains (2) summary

pfam16176
Location:394 → 525

T-box_assoc; T-box transcription factor-associated

cd20203
Location:136 → 326

T-box_TBX21; DNA-binding domain of T-box transcription factor 21 and related T-box proteins