TBX21

T-box transcription factor TBX21, also called T-bet (T-box expressed in T cells) is a protein that in humans is encoded by the TBX21 gene.[5]

TBX21
Identifiers
AliasesTBX21, T-PET, T-bet, TBET, TBLYM, T-box 21, T-box transcription factor 21
External IDsOMIM: 604895 MGI: 1888984 HomoloGene: 8353 GeneCards: TBX21
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.32Start47,733,236 bp[1]
End47,746,122 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

30009

57765

Ensembl

ENSG00000073861

ENSMUSG00000001444

UniProt

Q9UL17

Q9JKD8

RefSeq (mRNA)

NM_013351

NM_019507

RefSeq (protein)

NP_037483

NP_062380

Location (UCSC)Chr 17: 47.73 – 47.75 MbChr 11: 97.1 – 97.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.[5]

Role in disease

Asthma

The transcription factor encoded by TBX21 is T-bet, which regulates the development of naive T lymphocytes. Asthma is a disease of chronic inflammation, and it is known that transgenic mice born without TBX21 spontaneously develop abnormal lung function consistent with asthma. It is thought that TBX21, therefore, may play a role in the development of asthma in humans as well.[6]

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References

  1. GRCh38: Ensembl release 89: ENSG00000073861 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000001444 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: TBX21 T-box 21".
  6. Tantisira KG, Hwang ES, Raby BA, Silverman ES, Lake SL, Richter BG, Peng SL, Drazen JM, Glimcher LH, and Weiss ST (Dec 2004). "TBX21: A functional variant predicts improvement in asthma with the use of inhaled corticosteroids". PNAS. 101 (52): 18099–18104. doi:10.1073/pnas.0408532102. PMC 539815. PMID 15604153.

Further reading


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