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Entry
N00303                      Network                                

Name
Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
Definition
KCNJ5* -> Na+ -> (CACNA1D,CACNA1H) -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone
  Expanded
3762v1 -> C01330 -> (776,8912) -> C00076 -> (801,805,808) -> (8536,57118,57172,815,816,817,818,814) -> (10488,1385,1386,1388,148327,468,64764,84699,90993,9586) => 1585 -> C01780
Class
nt06316 Angiotensin-aldosterone signaling
Type
Variant
Pathway
hsa04925  Aldosterone synthesis and secretion
Disease
H01603  Primary aldosteronism
Gene
3762  KCNJ5; potassium voltage-gated channel subfamily J member 5
776  CACNA1D; calcium voltage-gated channel subunit alpha1 D
8912  CACNA1H; calcium voltage-gated channel subunit alpha1 H
801  CALM1; calmodulin 1
805  CALM2; calmodulin 2
808  CALM3; calmodulin 3
8536  CAMK1; calcium/calmodulin dependent protein kinase I
57118  CAMK1D; calcium/calmodulin dependent protein kinase ID
57172  CAMK1G; calcium/calmodulin dependent protein kinase IG
815  CAMK2A; calcium/calmodulin dependent protein kinase II alpha
816  CAMK2B; calcium/calmodulin dependent protein kinase II beta
817  CAMK2D; calcium/calmodulin dependent protein kinase II delta
818  CAMK2G; calcium/calmodulin dependent protein kinase II gamma
814  CAMK4; calcium/calmodulin dependent protein kinase IV
10488  CREB3; cAMP responsive element binding protein 3
1385  CREB1; cAMP responsive element binding protein 1
1386  ATF2; activating transcription factor 2
1388  ATF6B; activating transcription factor 6 beta
148327  CREB3L4; cAMP responsive element binding protein 3 like 4
468  ATF4; activating transcription factor 4
64764  CREB3L2; cAMP responsive element binding protein 3 like 2
84699  CREB3L3; cAMP responsive element binding protein 3 like 3
90993  CREB3L1; cAMP responsive element binding protein 3 like 1
9586  CREB5; cAMP responsive element binding protein 5
1585  CYP11B2; cytochrome P450 family 11 subfamily B member 2
Variant
3762v1  KCNJ5 mutation
Metabolite
C01330  Sodium cation
C00076  Calcium cation
C01780  Aldosterone
Reference
  Authors
Al-Salameh A, Cohen R, Desailloud R
  Title
Overview of the genetic determinants of primary aldosteronism.
  Journal
Appl Clin Genet 7:67-79 (2014)
DOI:10.2147/TACG.S45620
Reference
  Authors
Zennaro MC, Jeunemaitre X, Boulkroun S
  Title
Integrating genetics and genomics in primary aldosteronism.
  Journal
Hypertension 60:580-8 (2012)
DOI:10.1161/HYPERTENSIONAHA.111.188250
Reference
  Authors
El Ghorayeb N, Bourdeau I, Lacroix A
  Title
Role of ACTH and Other Hormones in the Regulation of Aldosterone Production in Primary Aldosteronism.
  Journal
Front Endocrinol (Lausanne) 7:72 (2016)
DOI:10.3389/fendo.2016.00072
Reference
  Authors
Fernandes-Rosa FL, Boulkroun S, Zennaro MC
  Title
Somatic and inherited mutations in primary aldosteronism.
  Journal
J Mol Endocrinol 59:R47-R63 (2017)
DOI:10.1530/JME-17-0035

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