NP_005987.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
79,389 Da
NCBI Official Full Name
T-box transcription factor TBX3 isoform 1
NCBI Official Synonym Full Names
T-box 3
NCBI Protein Information
T-box transcription factor TBX3; T-box protein 3; bladder cancer related protein XHL
UniProt Protein Name
T-box transcription factor TBX3
UniProt Synonym Gene Names
UniProt Entry Name
TBX3_HUMAN
NCBI Summary for TBX3
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. [provided by RefSeq, Jul 2008]
UniProt Comments for TBX3
TBX3: Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS). UMS is characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 12q24.21
Cellular Component: nucleus
Molecular Function: protein binding; sequence-specific DNA binding
Biological Process: embryonic forelimb morphogenesis; positive regulation of transcription, DNA-dependent; limbic system development; negative regulation of epithelial cell differentiation; palate development; negative regulation of transcription from RNA polymerase II promoter; female genitalia development; forelimb morphogenesis; mammary gland development; determination of anterior/posterior axis, embryo; positive regulation of cell proliferation; male genitalia development; heart looping; skeletal development; luteinizing hormone secretion; specification of organ position; blood vessel development; transcription, DNA-dependent; in utero embryonic development; stem cell maintenance; cell aging; positive regulation of cell cycle; regulation of transcription from RNA polymerase II promoter; organ morphogenesis; mesoderm morphogenesis; embryonic digit morphogenesis; follicle-stimulating hormone secretion; negative regulation of myoblast differentiation; negative regulation of transcription, DNA-dependent; negative regulation of apoptosis
Disease: Ulnar-mammary Syndrome
Research Articles on TBX3
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Products associated with anti-TBX3 antibody
Diseases associated with anti-TBX3 antibody
Organs/Tissues associated with anti-TBX3 antibody
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