InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX19

Summary

InnateDB Protein

IDBP-104624.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBX19

Protein Name

T-box 19

Synonyms

dJ747L4.1; TBS19; TPIT;

Species

Homo sapiens

Ensembl Protein

ENSP00000356795

InnateDB Gene

IDBG-104614 (TBX19)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. {ECO:0000269PubMed:11290323}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.

Disease Associations

ACTH deficiency, isolated (IAD) [MIM:201400]: A disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. {ECO:0000269PubMed:11290323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001158	enhancer sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0009653	anatomical structure morphogenesis
GO:0021983	pituitary gland development
GO:0042127	regulation of cell proliferation
GO:0045165	cell fate commitment
GO:0045595	regulation of cell differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter