Version 5.4
Homo sapiens Gene: TBX5
Summary
InnateDB Gene IDBG-58949.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBX5
Gene Name T-box 5
Synonyms HOS
Species Homo sapiens
Ensembl Gene ENSG00000089225
Encoded Proteins
IDBP-58951
T-box 5
IDBP-58953
T-box 5
IDBP-294056
T-box 5
IDBP-604283
T-box 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:114353931-114408442
Strand Reverse strand
Band q24.21
Transcripts
ENST00000310346 ENSP00000309913
ENST00000349716 ENSP00000337723
ENST00000405440 ENSP00000384152
ENST00000526441 ENSP00000433292
ENST00000552726
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0002009 morphogenesis of an epithelium
GO:0003166 bundle of His development
GO:0003181 atrioventricular valve morphogenesis
GO:0003197 endocardial cushion development
GO:0003218 cardiac left ventricle formation
GO:0003229 ventricular cardiac muscle tissue development
GO:0003281 ventricular septum development
GO:0003283 atrial septum development
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007267 cell-cell signaling
GO:0007389 pattern specification process
GO:0007507 heart development
GO:0008285 negative regulation of cell proliferation
GO:0010467 gene expression
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0030262 apoptotic nuclear changes
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030336 negative regulation of cell migration
GO:0035115 embryonic forelimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051891 positive regulation of cardioblast differentiation
GO:0055007 cardiac muscle cell differentiation
GO:0060039 pericardium development
GO:0060044 negative regulation of cardiac muscle cell proliferation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060413 atrial septum morphogenesis
GO:0060980 cell migration involved in coronary vasculogenesis
GO:0072513 positive regulation of secondary heart field cardioblast proliferation
GO:1900117 regulation of execution phase of apoptosis
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000018263
View Gene Order
ENSBTAG00000011384
Not yet available
Pathways
NETPATH
REACTOME
REACT_118713
YAP1- and WWTR1 (TAZ)-stimulated gene expression pathway
REACT_12627
Generic Transcription Pathway pathway
REACT_71
Gene Expression pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q99593
TrEMBL
UniProt Splice Variant
Entrez Gene 6910
UniGene Hs.381715 Hs.603324
RefSeq NM_000192 NM_080717 NM_181486 XM_006719582
HUGO HGNC:11604
OMIM 601620
CCDS CCDS9173 CCDS9174
HPRD 03372
IMGT
EMBL AB051068 AC009260 AC069240 AF221714 BC027942 CH471054 U80987 U89353 Y09445
GenPept AAC04619 AAC51644 AAF34659 AAH27942 BAB55448 CAA70592 EAW98066
RNA Seq Atlas 6910

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca