InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX4

Summary

InnateDB Protein

IDBP-62575.6

Last Modified

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

Gene Symbol

TBX4

Protein Name

T-box 4

Synonyms

SPS;

Species

Homo sapiens

Ensembl Protein

ENSP00000240335

InnateDB Gene

IDBG-62573 (TBX4)

Protein Structure

UniProt Annotation

Function

Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

Subcellular Localization

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

Disease Associations

Small patella syndrome (SPS) [MIM:147891]: Autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. {ECO:0000269PubMed:15106123}. 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 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
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:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding

Biological Process

GO:0001525	angiogenesis
GO:0002009	morphogenesis of an epithelium
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0030324	lung development
GO:0030326	embryonic limb morphogenesis
GO:0035108	limb morphogenesis
GO:0048705	skeletal system morphogenesis