Gene: TBX4

Alternate names for this Gene: ICPPS|PAPPAS|SPS

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 the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.2

Description of this Gene: T-box transcription factor 4

Type of Gene: protein-coding

rs140385970 in TBX4 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs1555882009 in TBX4 gene and Pulmonary arterial hypertension associated with congenital heart disease PMID 30029678 2018 Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

rs28936696 in TBX4 gene and SMALL PATELLA SYNDROME PMID 15106123 2004 Mutations in the human TBX4 gene cause small patella syndrome.

rs140385970 in TBX4 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.