NETWORK: N00305
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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
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*) ATP2B3 mutation
Metabolite
C00076
Calcium cation
C01780
Aldosterone
Reference
PMID:
23416519
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
PMID:
28400483
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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