KEGG   NETWORK: N00916
Entry
N00916                      Network                                

Name
Mutation-inactivated AVP to AVP-V2R-PKA signaling pathway
Definition
AVP* // AVPR2 -> GNAS -> ADCY3/6/9 -> cAMP -> PKA -> AQP2
  Expanded
551v1 // 554 -> 2778 -> (109,112,115) -> C00575 -> (5566+5567+5568) -> 359
Class
nt06326 AVP signaling
Type
Variant
Disease
H00253  Neurohypophyseal diabetes insipidus (NPDI)
Gene
551  AVP; arginine vasopressin
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
551v1 (AVP*)  AVP mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Rutishauser J, Spiess M, Kopp P
  Title
Genetic forms of neurohypophyseal diabetes insipidus.
  Journal
Best Pract Res Clin Endocrinol Metab 30:249-62 (2016)
DOI:10.1016/j.beem.2016.02.008
Reference
  Authors
Babey M, Kopp P, Robertson GL
  Title
Familial forms of diabetes insipidus: clinical and molecular characteristics.
  Journal
Nat Rev Endocrinol 7:701-14 (2011)
DOI:10.1038/nrendo.2011.100
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