TBX6

T-box 6
Identifiers
Symbols	TBX6 ; SCDO5
External IDs	OMIM: 602427 HomoloGene: 3389 GeneCards: TBX6 Gene
Gene ontology Molecular function • RNA polymerase II transcription factor binding • RNA polymerase II activating transcription factor binding • transcriptional repressor activity, RNA polymerase II transcription factor binding • DNA binding • transcription factor activity, sequence-specific DNA binding • protein binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • mesoderm formation • cell fate specification • transcription, DNA-templated • mesoderm development • anatomical structure morphogenesis • negative regulation of neuron projection development • negative regulation of neuron maturation • signal transduction involved in regulation of gene expression • somite rostral/caudal axis specification • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6911	21389
Ensembl	ENSG00000149922	ENSMUSG00000030699
UniProt	O95947	P70327
RefSeq (mRNA)	NM_004608	NM_011538
RefSeq (protein)	NP_004599	NP_035668
Location (UCSC)	Chr 16: 30.09 – 30.09 Mb	Chr 7: 126.78 – 126.79 Mb
PubMed search

T-box 6 is a protein that in humans is encoded by the TBX6 gene.^[1]

Function

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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures.^[1]

Tbx6 is also required for the segmentation of the paraxial mesoderm into somites, and for the normal development of the dermomyotome in zebrafish. In the absence of Tbx6, the central dermomyotome of zebrafish fails to develop.^[2]

Tbx6 functions in a gene regulatory network with mesp-b and ripply1.^[3]

References

1. "Entrez Gene: T-box 6".
2. Windner SE, Bird NC, Patterson SE, Doris RA, Devoto SH (Aug 2012). "Fss/Tbx6 is required for central dermomyotome cell fate in zebrafish". Biology Open 1 (8): 806–14. doi:10.1242/bio.20121958. PMC 3507223. PMID 23213474.
3. Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, Oates AC, Wardle FC, Devoto SH (Mar 2015). "Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish". Development 142 (6): 1159–68. doi:10.1242/dev.113431. PMID 25725067.

Further reading

• Farin HF, Bussen M, Schmidt MK, Singh MK, Schuster-Gossler K, Kispert A (Aug 2007). "Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors". The Journal of Biological Chemistry 282 (35): 25748–59. doi:10.1074/jbc.M703724200. PMID 17584735.
• Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomäki K (2013). "TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia". Orphanet Journal of Rare Diseases 8: 125. doi:10.1186/1750-1172-8-125. PMC 3847609. PMID 23954021.
• Yi CH, Terrett JA, Li QY, Ellington K, Packham EA, Armstrong-Buisseret L, McClure P, Slingsby T, Brook JD (Jan 1999). "Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19". Genomics 55 (1): 10–20. doi:10.1006/geno.1998.5632. PMID 9888994.
• Papapetrou C, Putt W, Fox M, Edwards YH (Jan 1999). "The human TBX6 gene: cloning and assignment to chromosome 16p11.2". Genomics 55 (2): 238–41. doi:10.1006/geno.1998.5646. PMID 9933572.
• Fei Q, Wu Z, Wang H, Zhou X, Wang N, Ding Y, Wang Y, Qiu G (Apr 2010). "The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population". Spine 35 (9): 983–8. doi:10.1097/BRS.0b013e3181bc963c. PMID 20228709.
• Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL (Apr 2013). "Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6". Human Molecular Genetics 22 (8): 1625–31. doi:10.1093/hmg/ddt012. PMID 23335591.
• Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I, Giampietro PF (Oct 2008). "A missense T (Brachyury) mutation contributes to vertebral malformations". Journal of Bone and Mineral Research 23 (10): 1576–83. doi:10.1359/jbmr.080503. PMID 18466071.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.