Previous symbols: DIR3, DIR. Aliases: V2R.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Nephrogenic Syndrome of Inappropriate Antidiuresis | causative germline gain of function |
mechanism: AVPR2 Gain-of-Function Variant
|
| X-Linked Nephrogenic Diabetes Insipidus | causative germline loss of function |
mechanism: AVPR2 Loss-of-Function Variant
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.