TBX3

T-box 3 (ulnar mammary syndrome)
File:PBB Protein TBX3 image.jpg PDB rendering based on 1h6f.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1h6f​
Identifiers
Symbols	TBX3 ; TBX3-ISO; UMS; XHL
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4371
Gene ontology Molecular function Template:GNF GO 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 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 TBX3 219682 s 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 3 (ulnar mammary syndrome), also known as TBX3, 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 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

• 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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)