Gene: TBX2

Alternate names for this Gene: VETD

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 product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.2

Description of this Gene: T-box transcription factor 2

Type of Gene: protein-coding

rs7215775 in TBX2 gene and Chloride measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs8068318 in TBX2 gene and Creatinine measurement, serum (procedure) PMID 20383145 2010 Genetic loci influencing kidney function and chronic kidney disease.

rs2240736 in TBX2 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs887258 in TBX2 gene and Fibroblast Growth Factor 23 Measurement PMID 30217807 2018 Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

rs8068318 in TBX2 gene and Finding of creatinine level PMID 20383145 2010 Genetic loci influencing kidney function and chronic kidney disease.

rs887258 in TBX2 gene and Glomerular Filtration Rate PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

rs2240736 in TBX2 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs2240736 in TBX2 gene and Mean blood pressure PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs7215775 in TBX2 gene and Potassium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2240736 in TBX2 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs1555877071 in TBX2 gene and VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION PMID 29726930 2018 Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.