TBX5 (gene)

From Wikipedia, the free encyclopedia

T-box 5

Identifiers

External IDs

OMIM: 601620 MGI: 102541 HomoloGene: 160

Gene ontology
Molecular Function:	• transcription factor activity • RNA polymerase II transcription factor activity • protein binding
Cellular Component:	• nucleus
Biological Process:	• morphogenesis of an epithelium • transcription • regulation of transcription, DNA-dependent • pattern specification process • heart development • lung development • embryonic limb morphogenesis • positive regulation of transcription from RNA polymerase II promoter

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000192 (mRNA)
NP_000183 (protein)

NM_011537 (mRNA)
NP_035667 (protein)

Location

Chr 12: 113.28 - 113.33 Mb

Chr 5: 120.1 - 120.15 Mb

Pubmed search

[1]

[2]

T-box 5, also known as TBX5, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: TBX5 T-box 5.

[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. 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.
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, 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.
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.
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.
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. PMID 11183182.
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. PMID 11748310.
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.
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.
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.
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. 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. PMID 14519429.