TBX3

T-box 3
PDB rendering based on 1h6f.
Available structures PDB 1h6f
Identifiers
Symbols	TBX3; TBX3-ISO; UMS; XHL
External IDs	OMIM: 601621 MGI: 98495 HomoloGene: 4371 GeneCards: TBX3 Gene
Gene Ontology Molecular function • sequence-specific DNA binding transcription factor activity • sequence-specific DNA binding Cellular component • nucleus Biological process • skeletal system development • blood vessel development • in utero embryonic development • heart looping • heart morphogenesis • regulation of transcription from RNA polymerase II promoter • anti-apoptosis • multicellular organismal development • cell aging • positive regulation of cell proliferation • anterior/posterior axis specification, embryo • organ morphogenesis • specification of organ position • limbic system development • male genitalia development • female genitalia development • mammary gland development • luteinizing hormone secretion • embryonic arm morphogenesis • forelimb morphogenesis • embryonic digit morphogenesis • negative regulation of myoblast differentiation • positive regulation of cell cycle • negative regulation of transcription, DNA-dependent • positive regulation of transcription, DNA-dependent • follicle-stimulating hormone secretion • mesoderm morphogenesis • cardiac muscle cell differentiation • branching involved in mammary gland duct morphogenesis • mammary placode formation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6926	21386
Ensembl	ENSG00000135111	ENSMUSG00000018604
UniProt	O15119	Q3ULL3
RefSeq (mRNA)	NM_005996.3	XM_989690
RefSeq (protein)	NP_005987.3	XP_994784
Location (UCSC)	Chr 12: 115.11 – 115.12 Mb	Chr 5: 120.12 – 120.13 Mb
PubMed search	[1]	[2]

T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 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 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.

Further reading

• 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. doi:10.1086/302417. PMC 1377898. PMID 10330342. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377898. 
• 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. doi:10.1073/pnas.96.18.10212. PMC 17868. PMID 10468588. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=17868. 
• 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. doi:10.1093/hmg/10.21.2403. 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. doi:10.1016/S0969-2126(02)00722-0. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. 

External links

• MeSH TBX3+protein,+human