TBX5 (gene)

T-box 5
Identifiers
Symbols	TBX5 ; HOS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 160
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TBX5 211886 s at tn.png
File:PBB GE TBX5 207155 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

T-box 5, also known as TBX5, is a human gene.

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.

Further reading

• Simon H (1999). "T-box genes and the formation of vertebrate forelimb- and hindlimb specific pattern". Cell Tissue Res. 296 (1): 57–66. PMID 10199965.
• Packham EA, Brook JD (2003). "T-box genes in human disorders". Hum. Mol. Genet. 12 Spec No 1: R37–44. PMID 12668595.
• Terrett JA, Newbury-Ecob R, Cross GS; et al. (1994). "Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q". Nat. Genet. 6 (4): 401–4. doi:10.1038/ng0494-401. PMID 8054982.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Li QY, Newbury-Ecob RA, Terrett JA; et al. (1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nat. Genet. 15 (1): 21–9. doi:10.1038/ng0197-21. PMID 8988164.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Basson CT, Bachinsky DR, Lin RC; et al. (1997). "Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome". Nat. Genet. 15 (1): 30–5. doi:10.1038/ng0197-30. PMID 8988165.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Basson CT, Huang T, Lin RC; et al. (1999). "Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations". Proc. Natl. Acad. Sci. U.S.A. 96 (6): 2919–24. PMID 10077612.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yang J, Hu D, Xia J; et al. (2000). "Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome". Am. J. Med. Genet. 92 (4): 237–40. PMID 10842287.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hatcher CJ, Goldstein MM, Mah CS; et al. (2000). "Identification and localization of TBX5 transcription factor during human cardiac morphogenesis". Dev. Dyn. 219 (1): 90–5. doi:10.1002/1097-0177(200009)219:1<90::AID-DVDY1033>3.0.CO;2-L. PMID 10974675.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hatcher CJ, Kim MS, Mah CS; et al. (2001). "TBX5 transcription factor regulates cell proliferation during cardiogenesis". Dev. Biol. 230 (2): 177–88. doi:10.1006/dbio.2000.0134. PMID 11161571.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cross SJ, Ching YH, Li QY; et al. (2001). "The mutation spectrum in Holt-Oram syndrome". J. Med. Genet. 37 (10): 785–7. PMID 11183182.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hiroi Y, Kudoh S, Monzen K; et al. (2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation". Nat. Genet. 28 (3): 276–80. doi:10.1038/90123. PMID 11431700.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Akrami SM, Winter RM, Brook JD, Armour JA (2002). "Detection of a large TBX5 deletion in a family with Holt-Oram syndrome". J. Med. Genet. 38 (12): E44. PMID 11748310.CS1 maint: Multiple names: authors list (link)
• He ML, Chen Y, Peng Y; et al. (2002). "Induction of apoptosis and inhibition of cell growth by developmental regulator hTBX5". Biochem. Biophys. Res. Commun. 297 (2): 185–92. PMID 12237100.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fan C, Liu M, Wang Q (2003). "Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome". J. Biol. Chem. 278 (10): 8780–5. doi:10.1074/jbc.M208120200. PMID 12499378.CS1 maint: Multiple names: authors list (link)
• Garg V, Kathiriya IS, Barnes R; et al. (2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature. 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Huang T, Lock JE, Marshall AC; et al. (2003). "Causes of clinical diversity in human TBX5 mutations". Cold Spring Harb. Symp. Quant. Biol. 67: 115–20. PMID 12858531.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Collavoli A, Hatcher CJ, He J; et al. (2004). "TBX5 nuclear localization is mediated by dual cooperative intramolecular signals". J. Mol. Cell. Cardiol. 35 (10): 1191–5. PMID 14519429.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)