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Gene id

30009

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TBX21 Gene UCSC Ensembl

Aliases

T-PET, T-bet, TBET, TBLYM

Gene name

T-box 21

Alternate names

T-box transcription factor TBX21, T-box expressed in T cells, T-box protein 21, T-cell-specific T-box transcription factor T-bet, transcription factor TBLYM,

Gene location

17q21.32 (47733239: 47746121) Exons: 7 NC_000017.11

Gene summary(Entrez)

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]

OMIM

604895

Protein Summary

Protein general information

Q9UL17

Name: T box transcription factor TBX21 (T box protein 21) (T cell specific T box transcription factor T bet) (Transcription factor TBLYM)

Length: 535 Mass: 58,328

Tissue specificity: T-cell specific.

Sequence

MGIVEPGCGDMLTGTEPMPGSDEGRAPGADPQHRYFYPEPGAQDADERRGGGSLGSPYPGGALVPAPPSRFLGAY
AYPPRPQAAGFPGAGESFPPPADAEGYQPGEGYAAPDPRAGLYPGPREDYALPAGLEVSGKLRVALNNHLLWSKF
NQHQTEMIITKQGRRMFPFLSFTVAGLEPTSHYRMFVDVVLVDQHHWRYQSGKWVQCGKAEGSMPGNRLYVHPDS
PNTGAHWMRQEVSFGKLKLTNNKGASNNVTQMIVLQSLHKYQPRLHIVEVNDGEPEAACNASNTHIFTFQETQFI
AVTAYQNAEITQLKIDNNPFAKGFRENFESMYTSVDTSIPSPPGPNCQFLGGDHYSPLLPNQYPVPSRFYPDLPG
QAKDVVPQAYWLGAPRDHSYEAEFRAVSMKPAFLPSAPGPTMSYYRGQEVLAPGAGWPVAPQYPPKMGPASWFRP
MRTLPMEPGPGGSEGRGPEDQGPPLVWTEIAPIRPESSDSGLGEGDSKRRRVSPYPSSGDSSSPAGAPSPFDKEA
EGQFYNYFPN

Structural information

Interpro:	IPR008967 IPR001699 IPR018186
Prosite:	PS01283 PS01264 PS50252
Pfam:	PF00907
CDD:	cd00182
DIP:	61303
STRING:	ENSP00000177694;

Other Databases

GeneCards: TBX21; Malacards: TBX21

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0030217	T cell differentiation	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	IEA	biological_process
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:0072676	lymphocyte migration	IDA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0030217	T cell differentiation	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	IEA	biological_process
GO:0050776	regulation of immune resp onse	IEA	biological_process
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:0072676	lymphocyte migration	IEA	biological_process
GO:0072676	lymphocyte migration	IDA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0072676	lymphocyte migration	IDA	biological_process

KEGG pathways

hsa04659  Th17 cell differentiation
hsa05321  Inflammatory bowel disease
hsa04658  Th1 and Th2 cell differentiation

Diseases

Associated diseases	References
Asthma	KEGG: H01191, OMIM: 604895
Diabetes	PMID: 18045485
Endometriosis	PMID: 22356900
Endometriosis	INFBASE22356900

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22356900	Endometrio sis			40 (20 women wi th laparoscopic ally confirmed endometriosis, 20 women withou t endometriosis )		T-bet GATA-3	Show abstract