| Symbol | SMAD5 |
| Full Name | SMAD family member 5 |
| Chromosome | 5q31.1 |
| NCBI Gene ID | 4090 |
| OMIM | 603109 |
| Ensembl ID | ENSG00000113657 |
| UniProt ID | Q99717 |
| Associated Diseases | Pulmonary arterial hypertension, Cancer |
SMAD5 is a receptor-regulated SMAD (R-SMAD) that mediates BMP signaling. It plays critical roles in embryonic development, bone formation, and hematopoiesis. BMP signaling through SMAD5 regulates neurogenesis, axon guidance, and synaptic plasticity. In the nervous system, SMAD5 is involved in neural stem cell differentiation, dopaminergic neuron development, and neuroprotection. Dysregulated SMAD5 signaling is implicated in neurodegenerative diseases and psychiatric disorders.
Widely expressed with high levels in lung, heart, brain, and bone. In brain, expressed in neural stem cells, neurons, and astrocytes. Important for neurogenesis in hippocampus and subventricular zone.
The SMAD5 gene is associated with the following neurodegenerative and neurological conditions:
Pulmonary arterial hypertension, Cancer
This section provides background information on the gene/protein and its role in the nervous system.
This overview section needs to be expanded with relevant scientific information from peer-reviewed sources.