TBX5 (gene)

T-box 5
	; Rendering based on PDB 2X6U.
Available structures
PDB	2X6U, 2X6V
Identifiers
Symbols	TBX5; HOS
External IDs	OMIM: 601620 MGI: 102541 HomoloGene: 160 GeneCards: TBX5 Gene
Gene Ontology
Molecular function	• DNA binding; • sequence-specific DNA binding transcription factor activity; • sequence-specific DNA binding transcription factor activity; • protein binding; • transcription factor binding; • sequence-specific DNA binding;
Cellular component	• nucleus; • cytoplasm; • cytoplasm;
Biological process	• morphogenesis of an epithelium; • bundle of His development; • cardiac left ventricle formation; • ventricular septum development; • transcription, DNA-dependent; • induction of apoptosis; • cell-cell signaling; • pattern specification process; • heart development; • heart development; • negative regulation of cell proliferation; • negative regulation of epithelial to mesenchymal transition; • lung development; • embryonic limb morphogenesis; • negative regulation of cell migration; • embryonic arm morphogenesis; • forelimb morphogenesis; • positive regulation of transcription, DNA-dependent; • positive regulation of transcription from RNA polymerase II promoter; • positive regulation of cardioblast differentiation; • cardiac muscle cell differentiation; • pericardium development; • negative regulation of cardiac muscle cell proliferation; • cell migration involved in coronary vasculogenesis;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs

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T-box transcription factor TBX5 is a protein that in humans is encoded by the TBX5 gene.^[1]^[2]^[3]

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.^[3]

[edit] Interactions

TBX5 (gene) has been shown to interact with GATA4^[4] and NKX2-5.^[4]^[5]

[edit] References

^ Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (Jan 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.
^ Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (Sep 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.
^ ^a ^b "Entrez Gene: TBX5 T-box 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6910.
^ ^a ^b Garg, Vidu; Kathiriya Irfan S, Barnes Robert, Schluterman Marie K, King Isabelle N, Butler Cheryl A, Rothrock Caryn R, Eapen Reenu S, Hirayama-Yamada Kayoko, Joo Kunitaka, Matsuoka Rumiko, Cohen Jonathan C, Srivastava Deepak (Jul. 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature (England) 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.
^ Hiroi, Y; Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I (Jul. 2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation". Nat. Genet. (United States) 28 (3): 276–80. doi:10.1038/90123. ISSN 1061-4036. PMID 11431700.

[edit] 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. doi:10.1007/s004410051266. PMID 10199965.
Packham EA, Brook JD (2003). "T-box genes in human disorders". Hum. Mol. Genet. 12 (Spec No 1): R37–44. doi:10.1093/hmg/ddg077. PMID 12668595.
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.
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. doi:10.1073/pnas.96.6.2919. PMC 15870. PMID 10077612. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=15870.
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. doi:10.1002/(SICI)1096-8628(20000605)92:4<237::AID-AJMG2>3.0.CO;2-G. PMID 10842287.
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.
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.
Cross SJ, Ching YH, Li QY, et al. (2001). "The mutation spectrum in Holt-Oram syndrome". J. Med. Genet. 37 (10): 785–7. doi:10.1136/jmg.37.10.785. PMC 1757164. PMID 11183182. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1757164.
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.
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. doi:10.1136/jmg.38.12.e44. PMC 1734777. PMID 11748310. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734777.
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. doi:10.1016/S0006-291X(02)02142-3. PMID 12237100.
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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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. PMC 1579789. PMID 12499378. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1579789.
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.
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. doi:10.1101/sqb.2002.67.115. PMID 12858531.
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. doi:10.1016/S0022-2828(03)00231-1. PMID 14519429.

[edit] External links

GeneReviews/NCBI/NIH/UW entry on Holt-Oram Syndrome
MeSH TBX5+protein,+human
http://holt-oram.ning.com/ a social network site for people with HOS

This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it.

[pmid8988165-0] Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (Jan 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.

[pmid8054982-1] Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD (Sep 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.

[entrez-2] "Entrez Gene: TBX5 T-box 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6910.

[pmid12845333-3] Garg, Vidu; Kathiriya Irfan S, Barnes Robert, Schluterman Marie K, King Isabelle N, Butler Cheryl A, Rothrock Caryn R, Eapen Reenu S, Hirayama-Yamada Kayoko, Joo Kunitaka, Matsuoka Rumiko, Cohen Jonathan C, Srivastava Deepak (Jul. 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature (England) 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.

[pmid11431700-4] Hiroi, Y; Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I (Jul. 2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation". Nat. Genet. (United States) 28 (3): 276–80. doi:10.1038/90123. ISSN 1061-4036. PMID 11431700.

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TBX5 (gene)

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