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TBX3

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Identifiers
SymbolsTBX3 ; TBX3-ISO; UMS; XHL
External IDsOMIM601621 MGI98495 HomoloGene4371 GeneCards: TBX3 Gene
RNA expression pattern
File:PBB GE TBX3 219682 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez692621386
EnsemblENSG00000135111ENSMUSG00000018604
UniProtO15119P70324
RefSeq (mRNA)NM_005996NM_011535
RefSeq (protein)NP_005987NP_035665
Location (UCSC)Chr 12:
115.11 – 115.12 Mb
Chr 5:
119.67 – 119.68 Mb
PubMed search[1][2]

T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.[1][2]

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.[2] Mutations in TBX3 are implicated in cases of breast cancer.[3]

References

  1. ^ Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD (Jan 1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nat Genet 15 (1): 21–9. PMID 8988164. doi:10.1038/ng0197-21. 
  2. ^ a b "Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)". 
  3. ^ The Cancer Genome Atlas Network (2012). "Comprehensive molecular portraits of human breast tumours". Nature (Nature Publishing Group) 490 (7418): 61–70. PMC 3465532. PMID 23000897. doi:10.1038/nature11412. Retrieved 24 September 2012. 

Further reading

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External links

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