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Entry
N00305                      Network                                

Name
Mutation-inactivated ATP2B3 to angiotensin-aldosterone signaling pathway
Definition
ATP2B3* -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone
  Expanded
492v1 -> 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
492  ATP2B3; ATPase plasma membrane Ca2+ transporting 3
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
492v1  ATP2B3 mutation
Metabolite
C00076  Calcium cation
C01780  Aldosterone
Reference
  Authors
Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M
  Title
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
  Journal
Nat Genet 45:440-4, 444e1-2 (2013)
DOI:10.1038/ng.2550
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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