TBX5
Domain
The T-Box domain binds to double-stranded DNA (PubMed:26926761).
Function
DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761).
Involvement in disease
Holt-Oram syndrome
HOS
Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Defects in TBX5 are associated with susceptibility to heart disorders including dilated cardiomyopathy (DCM) and atrial fibrillation (AF). DCM is characterized by ventricular and impaired systolic function, resulting in heart failure and arrhythmia. Patient are at risk of premature death. AF is a common sustained cardiac rhythm disturbance. AF is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
Post-translational modifications
Acetylation at Lys-339 by KAT2A and KAT2B promotes nuclear retention.
Cellular localization
- Nucleus
- Cytoplasm
- Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention.
Alternative names
T-box transcription factor TBX5, T-box protein 5, TBX5