Human Gene TBX21 (uc002ilv.1) Description and Page Index
Description: Homo sapiens T-box 21 (TBX21), mRNA. RefSeq Summary (NM_013351): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF093098.1, BC039739.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000177694.2/ ENSP00000177694.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr17:45,810,610-45,823,485 Size: 12,876 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr17:45,810,821-45,822,732 Size: 11,912 Coding Exon Count: 6
ID:TBX21_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX21; Short=T-box protein 21; AltName: Full=T-cell-specific T-box transcription factor T-bet; AltName: Full=Transcription factor TBLYM; FUNCTION: Transcription factor that controls the expression of the TH1 cytokine, interferon-gamma. Initiates TH1 lineage development from naive TH precursor cells both by activating TH1 genetic programs and by repressing the opposing TH2 programs. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: T-cell specific. DISEASE: Genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps and aspirin intolerance (ANPAI) [MIM:208550]. A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities. SIMILARITY: Contains 1 T-box DNA-binding domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TBX21 CDC HuGE Published Literature: TBX21 Positive Disease Associations: asthma
, hepatitis B Related Studies:
asthma Raby, B. A. et al. 2005, T-Bet Polymorphisms are Associated with Asthma and Airway Hyperresponsiveness., American journal of respiratory and critical care medicine. 2006 Jan;173(1):64-70.
These data suggest that T-bet variation contributes to airway responsiveness in asthma.
asthma Akahoshi, M. et al. 2005, Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma., Human genetics. 2005 Jun;117(1):16-26.
Thus, in addition to the antigen-driven excess Th2 response, increased T-bet (and subsequent IFN-gamma) production in human airways of individuals with the -1993T-->C polymorphism could contribute to the development of certain asthma-related phenotypes, such as AIA.
hepatitis B Cao, B. et al. 2007, Association analysis of hepatitis virus B infection with haplotypes of the TBX21 gene promoter region in the Chinese population, Clin Chem Lab Med 2007 45(3) 333-8.
Based on our findings, it seems that genetic variations of allele -1499 and haplotype D (--/AC) within the TBX21 promoter region contribute to susceptibility to HBV infection in the Chinese population.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UL17
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007275 multicellular organism development GO:0009615 response to virus GO:0010628 positive regulation of gene expression GO:0030217 T cell differentiation GO:0032703 negative regulation of interleukin-2 production GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0045580 regulation of T cell differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0048304 positive regulation of isotype switching to IgG isotypes GO:0050776 regulation of immune response GO:0071310 cellular response to organic substance GO:0072676 lymphocyte migration GO:2000320 negative regulation of T-helper 17 cell differentiation GO:2000329 negative regulation of T-helper 17 cell lineage commitment GO:2000552 negative regulation of T-helper 2 cell cytokine production