TBX3

TBX3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1H6F
Identifiers
Aliases	TBX3, TBX3-ISO, UMS, XHL, T-box 3
External IDs	MGI: 98495 HomoloGene: 4371 GeneCards: TBX3
Genetically Related Diseases
colorectal cancer
Gene ontology Molecular function • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • DNA binding • protein binding • RNA polymerase II transcription factor binding • RNA polymerase II activating transcription factor binding Cellular component • nucleus Biological process • forelimb morphogenesis • cellular senescence • branching involved in mammary gland duct morphogenesis • positive regulation of stem cell proliferation • atrioventricular bundle cell differentiation • negative regulation of epithelial cell differentiation • female genitalia development • transcription, DNA-templated • male genitalia development • multicellular organism development • anterior/posterior axis specification, embryo • outflow tract morphogenesis • skeletal system development • ventricular septum morphogenesis • embryonic forelimb morphogenesis • cardiac muscle cell fate commitment • regulation of transcription from RNA polymerase II promoter • heart morphogenesis • regulation of cell proliferation • heart looping • negative regulation of myoblast differentiation • specification of animal organ position • stem cell population maintenance • luteinizing hormone secretion • follicle-stimulating hormone secretion • blood vessel development • positive regulation of cell proliferation • positive regulation of transcription, DNA-templated • palate development • mammary placode formation • in utero embryonic development • mesoderm morphogenesis • regulation of transcription, DNA-templated • limb morphogenesis • sinoatrial node cell development • positive regulation of cell cycle • cardiac muscle cell differentiation • limbic system development • embryonic hindlimb morphogenesis • animal organ morphogenesis • embryonic heart tube development • embryonic digit morphogenesis • mammary gland development • cell aging • negative regulation of transcription from RNA polymerase II promoter • negative regulation of transcription, DNA-templated • negative regulation of apoptotic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6926	21386
Ensembl	ENSG00000135111	ENSMUSG00000018604
UniProt	O15119	P70324
RefSeq (mRNA)	NM_016569 NM_005996	NM_011535 NM_198052
RefSeq (protein)	NP_005987 NP_057653	NP_035665.2
Location (UCSC)	Chr 12: 114.67 – 114.68 Mb	Chr 5: 119.67 – 119.68 Mb
PubMed search

1H6F

6926

21386

ENSG00000135111

ENSMUSG00000018604

O15119

P70324

NM_016569
NM_005996

NM_011535
NM_198052

NP_005987
NP_057653

NP_035665.2

T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.

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. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. Mutations in TBX3 are implicated in cases of breast cancer. TBX3 is also responsible for the dun color in horses, but its expression or lack of expression has no deleterious effects on horses, only affecting hair color.

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Wikipedia