KEGG   NETWORK: N00917
Entry
N00917                      Network                                

Name
Mutation-activated AVPR2 to AVP-V2R-PKA signaling pathway
Definition
AVPR2* -> GNAS -> ADCY3/6/9 -> cAMP -> PKA -> AQP2
  Expanded
554v1 -> 2778 -> (109,112,115) -> C00575 -> (5566+5567+5568) -> 359
Class
nt06326 AVP signaling
Type
Variant
Disease
H01294  Nephrogenic syndrome of inappropriate antidiuresis
H01682  Syndrome of inappropriate secretion of antidiuretic hormone
H01683  Disorders of antidiuretic hormone (ADH) secretion
Gene
554  AVPR2; arginine vasopressin receptor 2
2778  GNAS; GNAS complex locus
109  ADCY3; adenylate cyclase 3
112  ADCY6; adenylate cyclase 6
115  ADCY9; adenylate cyclase 9
5566  PRKACA; protein kinase cAMP-activated catalytic subunit alpha
5567  PRKACB; protein kinase cAMP-activated catalytic subunit beta
5568  PRKACG; protein kinase cAMP-activated catalytic subunit gamma
359  AQP2; aquaporin 2
Variant
554v1 (AVPR2*)  AVPR2 mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Bardanzellu F, Pintus MC, Masile V, Fanos V, Marcialis MA
  Title
Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later.
  Journal
Pediatr Nephrol 34:763-775 (2019)
DOI:10.1007/s00467-018-3922-6
Reference
  Authors
Erdelyi LS, Mann WA, Morris-Rosendahl DJ, Gross U, Nagel M, Varnai P, Balla A, Hunyady L
  Title
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
  Journal
Kidney Int 88:1070-8 (2015)
DOI:10.1038/ki.2015.181
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