Entry |
|
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 Renin-angiotensin-aldosterone signaling
|
Type |
Variant
|
Disease |
|
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 |
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*) KCNJ5 mutation
|
Metabolite |
|
Reference |
|
Authors |
Al-Salameh A, Cohen R, Desailloud R |
Title |
Overview of the genetic determinants of primary aldosteronism. |
Journal |
|
Reference |
|
Authors |
Zennaro MC, Jeunemaitre X, Boulkroun S |
Title |
Integrating genetics and genomics in primary aldosteronism. |
Journal |
|
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 |
|
Reference |
|
Authors |
Fernandes-Rosa FL, Boulkroun S, Zennaro MC |
Title |
Somatic and inherited mutations in primary aldosteronism. |
Journal |
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LinkDB |
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