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Entry
N00298                      Network                                

Name
CYP11B1-CYP11B2 fusion to ACTH-cortisol signaling pathway
Definition
ACTH -> (MC2R+MRAP) -> GNAS -> ADCY -> cAMP -> PKA -> (NR5A1,NR4A1,SP1,PBX1,CREB) => CYP11B2* -> Aldosterone
  Expanded
5443 -> (4158+56246) -> 2778 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568) -> (2516,3164,6667,5087,10488,1385,1386,1388,148327,468,64764,84699,90993,9586) => 1585v1 -> C01780
Class
nt06310 CRH-ACTH-cortisol signaling
Type
Variant
Disease
H00602  Glucocorticoid-remediable aldosteronism (GRA)
Gene
5443  POMC; proopiomelanocortin
4158  MC2R; melanocortin 2 receptor
56246  MRAP; melanocortin 2 receptor accessory protein
2778  GNAS; GNAS complex locus
107  ADCY1; adenylate cyclase 1
108  ADCY2; adenylate cyclase 2
109  ADCY3; adenylate cyclase 3
196883  ADCY4; adenylate cyclase 4
111  ADCY5; adenylate cyclase 5
112  ADCY6; adenylate cyclase 6
113  ADCY7; adenylate cyclase 7
114  ADCY8; adenylate cyclase 8
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
2516  NR5A1; nuclear receptor subfamily 5 group A member 1
3164  NR4A1; nuclear receptor subfamily 4 group A member 1
6667  SP1; Sp1 transcription factor
5087  PBX1; PBX homeobox 1
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
1585v1  CYP11B1-CYP11B2 fusion
Metabolite
C00575  3',5'-Cyclic AMP
C01780  Aldosterone
Reference
  Authors
Vaidya A, Hamrahian AH, Auchus RJ
  Title
Genetics of primary aldosteronism.
  Journal
Endocr Pract 21:400-5 (2015)
DOI:10.4158/EP14512.RA
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
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