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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]
TBX21 (T-Box Transcription Factor 21) is a Protein Coding gene. Diseases associated with TBX21 include Asthma, Nasal Polyps, And Aspirin Intolerance and Asthma. Among its related pathways are IL27-mediated signaling events and IL12 signaling mediated by STAT4. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is EOMES.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 19805038 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001102 | RNA polymerase II activating transcription factor binding | IBA | 21873635 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 18504404 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0043025 | neuronal cell body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Th17 cell differentiation | ||
2 | IL27-mediated signaling events | ||
3 | IL12-mediated signaling events |
Immune response IL-12-induced IFN-gamma production
.31
|
|
4 | NF-kappaB Signaling | ||
5 | Innate Lymphoid Cells Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 18504404 |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0001947 | heart looping | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | TAS | 10761931 |
GO:0007275 | multicellular organism development | TAS | 10761931 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
corticosteroids | Pharma | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBX21 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBX21 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBX21 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbx21 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbx21 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBX21 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | TBX21 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | tbx21 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | tbx-9 31 32 |
|
ManyToMany | |
tbx-37 31 |
|
ManyToMany | |||
tbx-11 31 |
|
ManyToMany | |||
tbx-8 31 32 |
|
ManyToMany | |||
tbx-43 31 |
|
ManyToMany | |||
tbx-38 31 |
|
ManyToMany | |||
tbx-34 31 |
|
ManyToMany | |||
tbx-42 31 |
|
ManyToMany | |||
tbx-30 31 |
|
ManyToMany | |||
tbx-35 31 |
|
ManyToMany | |||
tbx-40 31 |
|
ManyToMany | |||
tbx-39 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7001 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
733866 | Likely Benign: not provided | 47,743,174(+) | G/A | SYNONYMOUS_VARIANT | |
781304 | Likely Benign: not provided | 47,744,192(+) | C/T | INTRON_VARIANT | |
785822 | Benign: not provided | 47,745,267(+) | C/T | SYNONYMOUS_VARIANT | |
828012 | Uncertain Significance: Asthma, nasal polyps, and aspirin intolerance | 47,733,780(+) | C/G | MISSENSE_VARIANT | |
rs1567918419 | Uncertain Significance: Asthma, nasal polyps, and aspirin intolerance | 47,733,537(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
asthma, nasal polyps, and aspirin intolerance |
|
|
asthma |
|
|
genital herpes |
|
|
chronic inflammatory demyelinating polyradiculoneuropathy |
|
|
angioimmunoblastic t-cell lymphoma |
|
|