TBX6

TBX6
Identifiers
Aliases	TBX6, SCDO5, T-box 6, T-box transcription factor 6
External IDs	OMIM: 602427 MGI: 102539 HomoloGene: 3389 GeneCards: TBX6
Gene location (Human) Chr. Chromosome 16 (human) Band 16p11.2 Start 30,085,793 bp End 30,091,924 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 F3|7 69.25 cM Start 126,380,655 bp End 126,384,732 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell vagina deltoid muscle tibialis anterior muscle body of pancreas skin of abdomen right adrenal gland right lobe of thyroid gland right uterine tube fundus Top expressed in primitive streak female urethra male urethra mesoderm morula entorhinal cortex blood thymus right ventricle lip More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding protein binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cell fate specification multicellular organism development somite rostral/caudal axis specification mesoderm formation anatomical structure morphogenesis negative regulation of neuron maturation mesoderm development signal transduction involved in regulation of gene expression negative regulation of neuron projection development regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated positive regulation of transcription by RNA polymerase II negative regulation of DNA-binding transcription factor activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6911 21389 Ensembl ENSG00000149922 ENSMUSG00000030699 UniProt O95947 P70327 RefSeq (mRNA) NM_004608 NM_080758 NM_011538 RefSeq (protein) NP_004599 NP_035668 Location (UCSC) Chr 16: 30.09 – 30.09 Mb Chr 7: 126.38 – 126.38 Mb PubMed search
Wikidata
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T-box 6 is a protein that in humans is encoded by the TBX6 gene.

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.

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.

Tbx6 functions in a gene regulatory network with mesp-b and ripply1.

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. S2CID 24945871.
• 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. S2CID 559122.

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