TBX3

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T-box 3 (ulnar mammary syndrome)
PDB rendering based on 1h6f.
Available structures: 1h6f
Identifiers
Symbol(s) TBX3; TBX3-ISO; UMS; XHL
External IDs OMIM: 601621 MGI: 98495 HomoloGene: 4371
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6926 21386
Ensembl ENSG00000135111 ENSMUSG00000018604
Uniprot O15119 Q3ULL3
Refseq NM_005996 (mRNA)
NP_005987 (protein)		 XM_989690 (mRNA)
XP_994784 (protein)
Location Chr 12: 113.59 - 113.61 Mb Chr 5: 119.93 - 119.95 Mb
Pubmed search [1] [2]

T-box 3 (ulnar mammary syndrome), also known as TBX3, 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 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.[1]

[edit] References

  1. ^ a b Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome).

[edit] Further reading

  • 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. 
  • Bamshad M, Lin RC, Law DJ, et al. (1997). "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.". Nat. Genet. 16 (3): 311-5. doi:10.1038/ng0797-311. PMID 9207801. 
  • Bamshad M, Le T, Watkins WS, et al. (1999). "The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.". Am. J. Hum. Genet. 64 (6): 1550-62. PMID 10330342. 
  • He M, Wen L, Campbell CE, et al. (1999). "Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome.". Proc. Natl. Acad. Sci. U.S.A. 96 (18): 10212-7. PMID 10468588. 
  • Carlson H, Ota S, Campbell CE, Hurlin PJ (2002). "A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome.". Hum. Mol. Genet. 10 (21): 2403-13. PMID 11689487. 
  • Brummelkamp TR, Kortlever RM, Lingbeek M, et al. (2002). "TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.". J. Biol. Chem. 277 (8): 6567-72. doi:10.1074/jbc.M110492200. PMID 11748239. 
  • Lingbeek ME, Jacobs JJ, van Lohuizen M (2002). "The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator.". J. Biol. Chem. 277 (29): 26120-7. doi:10.1074/jbc.M200403200. PMID 12000749. 
  • Coll M, Seidman JG, Müller CW (2002). "Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.". Structure 10 (3): 343-56. PMID 12005433. 
  • Carlson H, Ota S, Song Y, et al. (2002). "Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation.". Oncogene 21 (24): 3827-35. doi:10.1038/sj.onc.1205476. PMID 12032820. 
  • Sasaki G, Ogata T, Ishii T, et al. (2002). "Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.". Am. J. Med. Genet. 110 (4): 365-9. doi:10.1002/ajmg.10447. PMID 12116211. 
  • 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. 
  • Wollnik B, Kayserili H, Uyguner O, et al. (2003). "Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.". Ann. Genet. 45 (4): 213-7. PMID 12668170. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Fan W, Huang X, Chen C, et al. (2004). "TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines.". Cancer Res. 64 (15): 5132-9. doi:10.1158/0008-5472.CAN-04-0615. PMID 15289316. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Lomnytska M, Dubrovska A, Hellman U, et al. (2006). "Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients.". Int. J. Cancer 118 (2): 412-21. doi:10.1002/ijc.21332. PMID 16049973. 
  • Yang L, Cai CL, Lin L, et al. (2006). "Isl1Cre reveals a common Bmp pathway in heart and limb development.". Development 133 (8): 1575-85. doi:10.1242/dev.02322. PMID 16556916. 
  • Lee HS, Cho HH, Kim HK, et al. (2007). "Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells.". Mol. Cell. Biochem. 296 (1-2): 129-36. doi:10.1007/s11010-006-9306-4. PMID 16955224. 
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635-48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. 
  • Mommersteeg MT, Hoogaars WM, Prall OW, et al. (2007). "Molecular pathway for the localized formation of the sinoatrial node.". Circ. Res. 100 (3): 354-62. doi:10.1161/01.RES.0000258019.74591.b3. PMID 17234970. 
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