PANX2 (Pannexin 2) is a pannexin family member forming ATP-permeable channels with neuronal expression. This gene plays important roles in the nervous system and has been implicated in various aspects of neurodegenerative disease pathogenesis.
| PANX2 Gene | |
|---|---|
| Gene Symbol | PANX2 |
| Full Name | Pannexin 2 |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 56605 |
| OMIM | 608420 |
| Ensembl ID | ENSG00000073150 |
| UniProt ID | Q9NZU5 |
| Associated Diseases | Alzheimer's Disease, Epilepsy, Brain Development Disorders |
PANX2 encodes pannexin 2, the second member of the pannexin family of large-pore membrane channels. Unlike PANX1, PANX2 expression is largely restricted to the nervous system. PANX2 forms functional channels that allow the release of ATP and other signaling molecules. PANX2 is thought to have distinct regulatory mechanisms and may form heteromeric channels with PANX1.
| Disease | Role | Mechanism |
|---|---|---|
| Alzheimer's Disease | Modifier | Altered ATP release affects neuronal function |
| Epilepsy | Modifier | PANX2 contributes to seizure activity |
| Brain Development | Essential | PANX2 is important for neural circuit formation |
PANX2 shows brain-specific expression: