Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of this gene are responsible for autosomal recessive and dominant nephrogenic diabetes insipidus.
The gene encoding the water channel aquaporin 2 is located on chromosome 12 (12q13) and spans about 8.1kb. It consists of 4 exons, all of them translated.
This water channel aquaporin 2 shows the same distribution as the arginine vasopressin receptor. In kidney's collecting duct both molecules regulate ADH dependent water excretion.
The phenotype of AQP2 mutations includes nephrogenic diabetes insipidus either autosomal recessive or dominant.
Aquaporin 2 trafficking from cytoplasmic vesicles to the apical membrane is stimulated by cGMP. Phosphorylation of serin at 256 is essential. Signal transduction can be initiated by arginine vasopressin (ADH), atrial natriuretic factor (ANP) or nitric oxide (NO).
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
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