TBX15

T-box transcription factor TBX15 is protein that in humans is encoded by the TBX15 gene.

TBX15
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4A04
Identifiers
Aliases	TBX15, TBX14, T-box 15, T-box transcription factor 15
External IDs	OMIM: 604127 MGI: 1277234 HomoloGene: 7967 GeneCards: TBX15
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p12 Start 118,883,046 bp[1] End 118,989,556 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.2|3 43.03 cM Start 99,240,381 bp[2] End 99,354,259 bp[2]
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • DNA binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • GO:0001106 transcription corepressor activity • GO:0001948 protein binding • protein homodimerization activity • transcription regulatory region sequence-specific DNA binding • protein heterodimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • Tle3-Aes complex • cell nucleus Biological process • embryonic cranial skeleton morphogenesis • embryonic skeletal system morphogenesis • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • negative regulation of nucleic acid-templated transcription • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6913	21384
Ensembl	ENSG00000092607	ENSMUSG00000027868
UniProt	Q96SF7	O70306
RefSeq (mRNA)	NM_152380 NM_001330677	NM_009323
RefSeq (protein)	NP_001317606 NP_689593	NP_033349
Location (UCSC)	Chr 1: 118.88 – 118.99 Mb	Chr 3: 99.24 – 99.35 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

TBX15 is a transcription factor involved in many developmental processes. TBX15 is a member of the T-box 1 subfamily and has been mapped to Chromosome 3.[5] TBX15 is important in the development of the skeletal system. it is mainly associated with the development of the limbs, spinal column, and head. In particular, TBX15 is shown to influence the development of the scapula or shoulder blade.[6]

TXBX15 together with SMARCD3 triggers development glycolytic fast-twitch muscles by the activation of the Akt/PKB signaling pathway.[7]

Clinical significance

Mutations of the TBX15 gene can cause a disease called Cousin Syndrome. This disease is associated with short stature, head and facial deformities, and underdevelopment of the shoulder blade and pelvis.[8] Candille et al. showed that TBX15 is also associated with a genetic mutation in mice called droopy ear. Droopy ear is a genetic mutation resulting in craniofacial malformations most notably ears in abnormal locations. Droopy ear is associated with a deletion of a portion of the TBX15 gene. Droopy ear is also associated with abnormal skin color characteristics in mice. This shows another effect of the TBX15 gene which is helping to establishment of dorsoventral patterning of skin/ fur color.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000092607 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027868 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Agulnik SI, Papaioannou VE, Silver LM (July 1998). "Cloning, mapping, and expression analysis of TBX15, a new member of the T-Box gene family". Genomics. 51 (1): 68–75. doi:10.1006/geno.1998.5278. PMID 9693034.
6. Singh MK, Petry M, Haenig B, Lescher B, Leitges M, Kispert A (February 2005). "The T-box transcription factor Tbx15 is required for skeletal development". Mechanisms of Development. 122 (2): 131–44. doi:10.1016/j.mod.2004.10.011. hdl:11858/00-001M-0000-0012-EA17-1. PMID 15652702. S2CID 15706546.
7. "Enhanced exercise and regenerative capacity in a mouse model that violates size constraints of oxidative muscle fibres | eLife".
8. Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A (November 2008). "TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome". American Journal of Human Genetics. 83 (5): 649–55. doi:10.1016/j.ajhg.2008.10.011. PMC 2668032. PMID 19068278.
9. Candille SI, Van Raamsdonk CD, Chen C, Kuijper S, Chen-Tsai Y, Russ A, Meijlink F, Barsh GS (January 2004). "Dorsoventral patterning of the mouse coat by Tbx15". PLOS Biology. 2 (1): E3. doi:10.1371/journal.pbio.0020003. PMC 314463. PMID 14737183.