Version 5.4
Homo sapiens Gene: TBX3
Summary
InnateDB Gene IDBG-59033.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBX3
Gene Name T-box 3
Synonyms TBX3-ISO; UMS; XHL
Species Homo sapiens
Ensembl Gene ENSG00000135111
Encoded Proteins
IDBP-59035
T-box 3
IDBP-59037
T-box 3
IDBP-810337
T-box 3
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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:114670254-114684164
Strand Reverse strand
Band q24.21
Transcripts
ENST00000257566 ENSP00000257566
ENST00000349155 ENSP00000257567
ENST00000548503
ENST00000552054
ENST00000613550 ENSP00000480048
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 10 [view]
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:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0001701 in utero embryonic development
GO:0001947 heart looping
GO:0003007 heart morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003167 atrioventricular bundle cell differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007569 cell aging
GO:0008284 positive regulation of cell proliferation
GO:0008595 anterior/posterior axis specification, embryo
GO:0009887 organ morphogenesis
GO:0010159 specification of organ position
GO:0019827 stem cell maintenance
GO:0021761 limbic system development
GO:0030539 male genitalia development
GO:0030540 female genitalia development
GO:0030857 negative regulation of epithelial cell differentiation
GO:0030879 mammary gland development
GO:0032275 luteinizing hormone secretion
GO:0035108 limb morphogenesis
GO:0035115 embryonic forelimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0042127 regulation of cell proliferation
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0045662 negative regulation of myoblast differentiation
GO:0045787 positive regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046884 follicle-stimulating hormone secretion
GO:0048332 mesoderm morphogenesis
GO:0055007 cardiac muscle cell differentiation
GO:0060021 palate development
GO:0060412 ventricular septum morphogenesis
GO:0060444 branching involved in mammary gland duct morphogenesis
GO:0060596 mammary placode formation
GO:0060923 cardiac muscle cell fate commitment
GO:0060931 sinoatrial node cell development
GO:0090398 cellular senescence
GO:2000648 positive regulation of stem cell proliferation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000018604
View Gene Order
ENSBTAG00000021706
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.129895 Hs.741777
RefSeq NM_005996 NM_016569
HUGO
OMIM
CCDS CCDS9175 CCDS9176
HPRD 03373
IMGT
EMBL
GenPept
RNA Seq Atlas

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