TBX15

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 99,147,697 bp[2] End 99,261,575 bp[2]
RNA expression pattern Bgee Top expressed in quadriceps femoris muscle gastrocnemius muscle vastus lateralis muscle muscle of leg deltoid muscle synovial membrane biceps brachii More reference expression data BioGPS n/a
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 GO:0000975 transcription cis-regulatory region binding protein heterodimerization activity GO:0001200, GO:0001133, GO:0001201 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
View/Edit Human View/Edit Mouse

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

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[]

Biallelic inactivating variants of the TBX15 gene can cause a recessively inherited condition called Cousin Syndrome. This condition is associated with short stature, head and facial deformities, and underdevelopment of the shoulder blade and pelvis.^[8] Candille et al. had previously shown that genetic variants of TBX15 are also associated with a condition 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[]