TBX3

Identifiers Symbols TBX3; TBX3-ISO; UMS; XHL External IDs OMIM: 601621 MGI: 98495 HomoloGene: 4371 GeneCards: TBX3 Gene

Gene Ontology
Molecular function RNA polymerase II transcription factor binding
RNA polymerase II activating transcription factor binding
sequence-specific DNA binding transcription factor activity
protein binding
sequence-specific DNA binding
Cellular component nucleus
Biological process negative regulation of transcription from RNA polymerase II promoter
skeletal system development
blood vessel development
in utero embryonic development
heart looping
outflow tract morphogenesis
atrioventricular bundle cell differentiation
transcription, DNA-dependent
regulation of transcription from RNA polymerase II promoter
cell aging
positive regulation of cell proliferation
anterior/posterior axis specification, embryo
organ morphogenesis
specification of organ position
stem cell maintenance
limbic system development
male genitalia development
female genitalia development
negative regulation of epithelial cell differentiation
mammary gland development
luteinizing hormone secretion
embryonic forelimb morphogenesis
forelimb morphogenesis
embryonic digit morphogenesis
negative regulation of apoptotic process
negative regulation of myoblast differentiation
positive regulation of cell cycle
negative regulation of transcription, DNA-dependent
positive regulation of transcription, DNA-dependent
follicle-stimulating hormone secretion
mesoderm morphogenesis
palate development
ventricular septum morphogenesis
branching involved in mammary gland duct morphogenesis
mammary placode formation
cardiac muscle cell fate commitment
sinoatrial node cell development
cellular senescence
positive regulation of stem cell proliferation
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_005996 NM_011535 RefSeq (protein) NP_005987 NP_035665 Location (UCSC) Chr 12:
115.11 – 115.12 Mb Chr 5:
119.67 – 119.68 Mb PubMed search

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.