Gene: TBX5

Alternate names for this Gene: HOS

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.21

Description of this Gene: T-box transcription factor 5

Type of Gene: protein-coding

rs104894378 in TBX5 gene and AORTIC VALVE DISEASE 2 PMID 12789647 2003 Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

PMID 11555635 2001 Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

PMID 8988165 1997 Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

PMID 20519243 2010 Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

PMID 12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

PMID 10077612 1999 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

PMID 25931334 2015 The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

PMID 10077762 1998 Helicobacter pylori infection and autoimmune processes: an emerging field of study.

PMID 16380715 2006 Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.

PMID 16183809 2005 TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

PMID 16917909 2006 Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

PMID 25500235 2014 Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

PMID 21637475 2010 Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.

PMID 15710732 2005 Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

PMID 8988164 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

PMID 17534187 2007 Novel TBX5 mutations in patients with Holt-Oram syndrome.

rs1057516042 in TBX5 gene and Aplasia/Hypoplasia of the thumb PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs3825214 in TBX5 gene and Atrial Fibrillation PMID 22544366 2012 Meta-analysis identifies six new susceptibility loci for atrial fibrillation.

PMID 28416822 2017 Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

PMID 28416818 2017 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs1895582 in TBX5 gene and Electrocardiogram: P-R interval PMID 21347284 2011 Genome-wide association studies of the PR interval in African Americans.

PMID 23139255 2012 Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.

PMID 25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.

rs883079 in TBX5 gene and Heart Function Tests PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

rs104894378 in TBX5 gene and Holt-Oram syndrome PMID 19648116 2009 Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.

PMID 10842287 2000 Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

PMID 10077612 1999 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

PMID 11431700 2001 A G80R mutation of Tbx5, which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not activate Nppa or show synergistic activation, whereas R237Q, which causes upper-limb malformations without cardiac abnormalities, activated the Nppa promoter to a similar extent to that of wildtype Tbx5.

PMID 20450920 2010 Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.

PMID 15735645 2005 Mutation in myosin heavy chain 6 causes atrial septal defect.

PMID 8988165 1997 Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

PMID 20519243 2010 Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

PMID 12818525 2004 Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

PMID 11555635 2001 Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

PMID 12499378 2003 Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

PMID 8988164 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

PMID 21897873 2011 Synergistic activation of cardiac genes by myocardin and Tbx5.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1555223259 in TBX5 gene and Mitral Valve Insufficiency PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs1555223259 in TBX5 gene and Ostium secundum atrial septal defect PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs148020424 in TBX5 gene and P wave duration (observable entity) PMID 28794112 2017 Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

rs3825214 in TBX5 gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.

rs3825214 in TBX5 gene and QT interval feature (observable entity) PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.

rs77357563 in TBX5 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555223259 in TBX5 gene and Ventricular Septal Defects PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.