TBX15 information

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; OMA:TBX15 - orthologs
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 99,147,697 bp[2] End 99,261,575 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle Skeletal muscle tissue of rectus abdominis quadriceps femoris muscle vastus lateralis muscle tibialis anterior muscle muscle of thigh Skeletal muscle tissue of biceps brachii tibia deltoid muscle Achilles tendon Top expressed in muscle of thigh digastric muscle temporal muscle triceps brachii muscle sternocleidomastoid muscle extraocular muscle ankle vastus lateralis muscle tibialis anterior muscle masseter muscle More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific transcription corepressor activity protein binding protein homodimerization activity transcription cis-regulatory region binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component Tle3-Aes complex nucleus Biological process embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated negative regulation of nucleic acid-templated transcription regulation of transcription by RNA polymerase II 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: 99.15 – 99.26 Mb PubMed search [3] [4]
Wikidata
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T-box transcription factor TBX15 is protein that is encoded in humans by the Tbx15 gene, mapped to Chromosome 3 in mice ^[5] and Chromosome 1 in humans. Tbx15 is a transcription factor that plays a key role in embryonic development. Like other members of the T-box subfamily, Tbx15 is expressed in the notochord and primitive streak, where it assists with the formation and differentiation of the mesoderm. It is steadily downregulated after segmentation of the paraxial mesoderm.^[6]

Expression of the T-box overall is a requirement for an embryo to remain viable. Heterozygous T-null mutations in mice result in short tails and some defects in sacral vertebrae.^[7] Homozygous null embryos display extreme deformities with mesodermal development: the axis of the body is shortened, the notochord fails to form, and posterior somites never develop.^[7] Embryonic death occurs around 10 days due to the failure to form the allantois.^[7]

Tbx15 plays a relatively minor role within this family. Tbx15 plays a role in the development of the skeleton. 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.^[8] Tbx15 expression is also seen in limb buds, in the craniofacial region, and in the skin.^[9] Failure of expression results in Cousin Syndrome, a disorder characterized by defects in craniofacial development and malformation of the shoulder girdle.

The effects of Tbx15 are also demonstrated in regulation of adipocyte differentiation, positional regulation of the dorsolateral mesenchyme, and growth of mitochondria. Tbx15, together with SMARCD3, triggers development glycolytic fast-twitch muscles by the activation of the Akt/PKB signaling pathway.^[10]