NP_852259.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
52,659 Da
NCBI Official Full Name
T-box transcription factor TBX5 isoform 1
NCBI Official Synonym Full Names
T-box 5
NCBI Official Synonym Symbols
NCBI Protein Information
T-box transcription factor TBX5; T-box protein 5
UniProt Protein Name
T-box transcription factor TBX5
UniProt Synonym Gene Names
UniProt Entry Name
TBX5_HUMAN
NCBI Summary for TBX5
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 gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for TBX5
TBX5: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX5 are the cause of Holt-Oram syndrome (HOS). HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 12q24.1
Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleus
Molecular Function: protein binding; DNA binding; sequence-specific DNA binding; transcription factor binding; transcription factor activity
Biological Process: embryonic forelimb morphogenesis; pericardium development; transcription initiation from RNA polymerase II promoter; heart development; positive regulation of transcription, DNA-dependent; pattern specification process; cardiac muscle cell differentiation; forelimb morphogenesis; negative regulation of cell proliferation; apoptotic nuclear changes; cell-cell signaling; negative regulation of cardiac muscle cell proliferation; positive regulation of cardioblast differentiation; morphogenesis of an epithelium; gene expression; positive regulation of transcription from RNA polymerase II promoter; negative regulation of cell migration; positive regulation of cardiac muscle cell proliferation; lung development; embryonic limb morphogenesis
Disease: Holt-oram Syndrome
Research Articles on TBX5
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Products associated with TBX5 elisa kit
Pathways associated with TBX5 elisa kit
Diseases associated with TBX5 elisa kit
Disease Name |
Pubmed Publications |
Heart Diseases Antibodies |
>146 publications with TBX5 and Heart Diseases |
Heart Defects, Congenital Antibodies |
>136 publications with TBX5 and Heart Defects, Congenital |
Holt-Oram syndrome Antibodies |
>108 publications with TBX5 and Holt-Oram syndrome |
Limb Deformities, Congenital Antibodies |
>55 publications with TBX5 and Limb Deformities, Congenital |
Heart Septal Defects, Atrial Antibodies |
>36 publications with TBX5 and Heart Septal Defects, Atrial |
Heart Septal Defects, Ventricular Antibodies |
>19 publications with TBX5 and Heart Septal Defects, Ventricular |
Eye Abnormalities Antibodies |
>9 publications with TBX5 and Eye Abnormalities |
Disease Models, Animal Antibodies |
>9 publications with TBX5 and Disease Models, Animal |
Abnormalities, Drug-Induced Antibodies |
>7 publications with TBX5 and Abnormalities, Drug-Induced |
Fibrosis Antibodies |
>4 publications with TBX5 and Fibrosis |
Organs/Tissues associated with TBX5 elisa kit
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