• Gene id: 30009

Gene Summary

• Gene Symbol: TBX21   Gene   UCSC   Ensembl
• Aliases: T-PET, T-bet, TBET, TBLYM
• Gene name: T-box transcription factor 21
• Alternate names: T-box transcription factor TBX21, T-box 21, 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 (47733235: 47746121)     Exons: 6     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 mou
• OMIM: 611439

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: 58328
  • Tissue specificity: T-cell specific. {ECO
• Sequence:

  MGIVEPGCGDMLTGTEPMPGSDEGRAPGADPQHRYFYPEPGAQDADERRGGGSLGSPYPGGALVPAPPSRFLGAY
  AYPPRPQAAGFPGAGESFPPPADAEGYQPGEGYAAPDPRAGLYPGPREDYALPAGLEVSGKLRVALNNHLLWSKF
  NQHQTEMIITKQGRRMFPFLSFTVAGLEPTSHYRMFVDVVLVDQHHWRYQSGKWVQCGKAEGSMPGNRLYVHPDS
  PNTGAHWMRQEVSFGKLKLTNNKGASNNVTQMIVLQSLHKYQPRLHIVEVNDGEPEAACNASNTHIFTFQETQFI
  AVTAYQNAEITQLKIDNNPFAKGFRENFESMYTSVDTSIPSPPGPNCQFLGGDHYSPLLPNQYPVPSRFYPDLPG
  QAKDVVPQAYWLGAPRDHSYEAEFRAVSMKPAFLPSAPGPTMSYYRGQEVLAPGAGWPVAPQYPPKMGPASWFRP
  MRTLPMEPGPGGSEGRGPEDQGPPLVWTEIAPIRPESSDSGLGEGDSKRRRVSPYPSSGDSSSPAGAPSPFDKEA
  EGQFYNYFPN

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • DIP: 61303
  • STRING: ENSP00000177694
• Other Databases: GeneCards:  TBX21  Malacards:  TBX21

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0001947	heart looping	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0072676	lymphocyte migration	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001708	cell fate specification	IBA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:2000552	negative regulation of T-helper 2 cell cytokine production	ISS	biological process
GO:2000329	negative regulation of T-helper 17 cell lineage commitment	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045580	regulation of T cell differentiation	ISS	biological process
GO:0032703	negative regulation of interleukin-2 production	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:2000320	negative regulation of T-helper 17 cell differentiation	ISS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0032703	negative regulation of interleukin-2 production	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:2000329	negative regulation of T-helper 17 cell lineage commitment	IEA	biological process
GO:2000552	negative regulation of T-helper 2 cell cytokine production	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0030217	T cell differentiation	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0048304	positive regulation of isotype switching to IgG isotypes	IEA	biological process
GO:0072676	lymphocyte migration	IEA	biological process
GO:2000320	negative regulation of T-helper 17 cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0072676	lymphocyte migration	IDA	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0009615	response to virus	IEP	biological process
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq