TBX4

TBX4 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. TBX4 is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly TBX4, 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 TBX4 in regulating limb development and specification of limb identity.

Full Name

TBX4

Function

Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs.

Biological Process

Biological Process angiogenesisIBA:GO_Central1 Publication
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process embryonic hindlimb morphogenesisIMP:UniProtKB1 Publication
Biological Process embryonic lung developmentIMP:UniProtKB1 Publication
Biological Process limb morphogenesisIMP:UniProtKB1 Publication
Biological Process lung developmentIEA:Ensembl
Biological Process morphogenesis of an epitheliumIEA:Ensembl
Biological Process positive regulation of DNA-templated transcriptionIEA:InterPro
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process skeletal system morphogenesisIMP:UniProtKB1 Publication

Cellular Location

Nucleus

Involvement in disease

Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS):
An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome (PAPPAS):
An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia.