NP_852259.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
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
Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.
Subunit structure: Monomer. Ref.9
Subcellular location: Nucleus
Potential.
Involvement in disease: Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3 Ref.9 Ref.10 Ref.11
Sequence similarities: Contains 1 T-box DNA-binding domain.
Sequence caution: The sequence BAB55448.1 differs from that shown. Reason: Frameshift at position 360.
Research Articles on TBX5
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Products associated with anti-TBX5 antibody
Pathways associated with anti-TBX5 antibody
Diseases associated with anti-TBX5 antibody
Disease Name |
Pubmed Publications |
Congenital Abnormalities Antibodies |
>133 publications with TBX5 and Congenital Abnormalities |
Heart Diseases Antibodies |
>130 publications with TBX5 and Heart Diseases |
Heart Defects, Congenital Antibodies |
>122 publications with TBX5 and Heart Defects, Congenital |
Holt-Oram syndrome Antibodies |
>100 publications with TBX5 and Holt-Oram syndrome |
Abnormalities, Multiple Antibodies |
>60 publications with TBX5 and Abnormalities, Multiple |
Limb Deformities, Congenital Antibodies |
>54 publications with TBX5 and Limb Deformities, Congenital |
Heart Septal Defects, Atrial Antibodies |
>32 publications with TBX5 and Heart Septal Defects, Atrial |
Heart Septal Defects, Ventricular Antibodies |
>18 publications with TBX5 and Heart Septal Defects, Ventricular |
Abnormalities, Drug-Induced Antibodies |
>6 publications with TBX5 and Abnormalities, Drug-Induced |
Disease Models, Animal Antibodies |
>6 publications with TBX5 and Disease Models, Animal |
Organs/Tissues associated with anti-TBX5 antibody
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