Property Summary

NCBI Gene PubMed Count 98
Grant Count 162
R01 Count 69
Funding $24,712,695.86
PubMed Score 231.97
PubTator Score 167.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
medulloblastoma, large-cell 1.100 0.035
non-small cell lung cancer -1.651 0.000
lung cancer -2.700 0.000
lung adenocarcinoma -1.500 0.000
lung carcinoma -1.700 0.000

Synonym

Gene

PANTHER Protein Class (1)

PDB

4S0H   2X6U   2X6V   5BQD  

Gene RIF (67)

PMID Text
26926761 The crystal structure of cardiac TBX5 protein includes the N-terminal and DNA binding domains, which mediate intermolecular interactions.
26917986 The findings expand the mutational spectrum of TBX5 linked to Atrial fibrillation (AF), and provide new evidence that dysfunctional TBX5 may contribute to lone AF.
26859351 defines a TBX5-nucleosome remodeling and deacetylase interaction essential to cardiac development and the evolution of the mammalian heart
26780237 TBX5 microdeletion with microinsertion was detected in patient with Holt-Oram syndrome.
26401820 Exome analysis revealed the splice mutation (c.148-1G>C) in TBX5 gene showing that haploinsufficiency of TBX5 protein caused the symptoms of the patients with Holt-Oram syndrome.
26071180 Data show that the combination of GATA binding protein 4 (Gata4), T-box transcription factor 5 (Tbx5) and BRG1-associated factor 60C protein (Baf60c) is sufficient for inducing adipose tissue-derived mesenchymal stem cells (ADMSCs) to form cardiomyocytes.
25963046 a novel heterozygous TBX5 mutation, p.A143T, was identified in a patient with sporadic dilated cardiomyopathy.
25725155 A novel TBX5 mutation, p.S154A, was identified in a family with familial dilated cardiomyopathy.The mutation was associated with significantly decreased TBX5 transcriptional activity.
25680289 TBX5 mutations and clinical features of Holt-Oram syndrome. [Review]
25623069 TBX5 isoforms derived from novel exons have distinct expression domains and function. Alternative splicing regulates TBX5 function in heart and limb.
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AA Sequence

MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELWLKFHEV      1 - 70
GTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPD     71 - 140
SPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETA    141 - 210
FIAVTSYQNHKITQLKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRA    211 - 280
LSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEE    281 - 350
DSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR    351 - 420
LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQPPEFLYS    421 - 490
HGVPRTLSPHQYHSVHGVGMVPEWSDNS                                              491 - 518
//

Text Mined References (100)

PMID Year Title
27035640 2016 TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
26926761 2016 Intermolecular Interactions of Cardiac Transcription Factors NKX2.5 and TBX5.
26917986 2016 Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.
26859351 2016 The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.
26780237 2015 A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.
26575833 2015 Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet.
26401820 2015 Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.
26071180 2015 Gata4, Tbx5 and Baf60c induce differentiation of adipose tissue-derived mesenchymal stem cells into beating cardiomyocytes.
25963046 2015 A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.
25725155 2015 TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.
More...