InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX6

Summary

InnateDB Protein

IDBP-240000.6

Last Modified

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

Gene Symbol

TBX6

Protein Name

T-box 6

Synonyms

SCDO5;

Species

Homo sapiens

Ensembl Protein

ENSP00000378650

InnateDB Gene

IDBG-25611 (TBX6)

Protein Structure

UniProt Annotation

Function

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity). {ECO:0000250}.

Subcellular Localization

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

Disease Associations

Spondylocostal dysostosis 5, autosomal dominant (SCDO5) [MIM:122600]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. {ECO:0000269PubMed:23335591}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001085	RNA polymerase II transcription factor binding
GO:0001102	RNA polymerase II activating transcription factor binding
GO:0001191	RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001707	mesoderm formation
GO:0001708	cell fate specification
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007498	mesoderm development
GO:0009653	anatomical structure morphogenesis
GO:0010977	negative regulation of neuron projection development
GO:0014043	negative regulation of neuron maturation
GO:0023019	signal transduction involved in regulation of gene expression
GO:0032525	somite rostral/caudal axis specification
GO:0045944	positive regulation of transcription from RNA polymerase II promoter