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

Gene ID: 30009, updated on 5-Mar-2024

Summary

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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

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See TBX21 in Genome Data Viewer
Location:
17q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47733236..47746122)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48595046..48607933)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45810602..45823488)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12314 Neighboring gene karyopherin subunit beta 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45771282-45771962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45771963-45772642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45772643-45773323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8638 Neighboring gene TBK1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791473-45791974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791975-45792474 Neighboring gene TBX21 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45855331-45855844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45866576-45867378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45867379-45868179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45885766-45886266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45886267-45886767 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45899123-45899338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12317 Neighboring gene oxysterol binding protein like 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45907489-45908320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45908321-45909150 Neighboring gene mitochondrial ribosomal protein L10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study. Shan J, et al. Exp Eye Res, 2023 Apr. PMID 36796535
  2. High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency. Yang R, et al. J Exp Med, 2021 Aug 2. PMID 34160550, Free PMC Article
  3. Association of the rs17250932, rs4794067, and rs2240017 polymorphism in the TBX21 gene with autoimmune diseases: A meta-analysis. Wang HL, et al. Allergol Immunopathol (Madr), 2021. PMID 33938192
  4. T-bet Expression in Peripheral Th17.0 Cells Is Associated With Pulmonary Function Changes in Sarcoidosis. Arger NK, et al. Front Immunol, 2020. PMID 32774332, Free PMC Article
  5. Overexpression of T-bet in HIV infection is associated with accumulation of B cells outside germinal centers and poor affinity maturation. Austin JW, et al. Sci Transl Med, 2019 Nov 27. PMID 31776286, Free PMC Article

See all (221) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Association of the rs17250932, rs4794067, and rs2240017 polymorphism in the TBX21 gene with autoimmune diseases: A meta-analysis.
    Title: Association of the rs17250932, rs4794067, and rs2240017 polymorphism in the TBX21 gene with autoimmune diseases: A meta-analysis.
Submit: New GeneRIF Correction See all GeneRIFs (201)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 cellular response to organic substance IEA
Inferred from Electronic Annotation
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
part_of 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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NEW Try the new Transcript table

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

  1. NG_012166.1 RefSeqGene

    Range
    4993..17879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_037483.1

    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

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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    47733236..47746122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    48595046..48607933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UL17.1 GenPept UniProtKB/Swiss-Prot:Q9UL17

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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