• Gene id: 9095

Gene Summary

• Gene Symbol: TBX19   Gene   UCSC   Ensembl
• Aliases: TBS19, TPIT, dJ747L4.1
• Gene name: T-box transcription factor 19
• Alternate names: T-box transcription factor TBX19, T-box 19, T-box factor, pituitary, T-box protein 19, TBS 19,
• Gene location: 1q24.2 (168280876: 168314425)     Exons: 8     NC_000001.11
• 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. Mutations in this gene were found in p
• OMIM: 604334

Protein Summary

• Protein general information: O60806  
  • Name: T box transcription factor TBX19 (T box protein 19) (T box factor, pituitary)
  • Length: 448  
  • Mass: 48238
• Sequence:

  MAMSELGTRKPSDGTVSHLLNVVESELQAGREKGDPTEKQLQIILEDAPLWQRFKEVTNEMIVTKNGRRMFPVLK
  ISVTGLDPNAMYSLLLDFVPTDSHRWKYVNGEWVPAGKPEVSSHSCVYIHPDSPNFGAHWMKAPISFSKVKLTNK
  LNGGGQIMLNSLHKYEPQVHIVRVGSAHRMVTNCSFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERNHL
  RDVPEAISESQHVTYSHLGGWIFSNPDGVCTAGNSNYQYAAPLPLPAPHTHHGCEHYSGLRGHRQAPYPSAYMHR
  NHSPSVNLIESSSNNLQVFSGPDSWTSLSSTPHASILSVPHTNGPINPGPSPYPCLWTISNGAGGPSGPGPEVHA
  STPGAFLLGNPAVTSPPSVLSTQAPTSAGVEVLGEPSLTSIAVSTWTAVASHPFAGWGGPGAGGHHSPSSLDG

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR002070  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • STRING: ENSP00000356795
• Other Databases: GeneCards:  TBX19  Malacards:  TBX19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0001707	mesoderm formation	IBA	biological process
GO:0001708	cell fate specification	IBA	biological process
GO:0001756	somitogenesis	IBA	biological process
GO:0003007	heart morphogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
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:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045165	cell fate commitment	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045595	regulation of cell differentiation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Adrenocorticotropic hormone deficiency	KEGG:H01011
Adrenocorticotropic hormone deficiency	KEGG:H01011
inherited metabolic disorder	PMID:11290323
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq