KEGG   NETWORK: N00326
Entry
N00326                      Network                                
Name
Mutation-activated GNAS to CRHR-PKA-ACTH signaling pathway
Definition
GNAS* -> ADCY -> cAMP -> PKA -> CREB -> ACTH
  Expanded
2778v1 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568) -> (10488,1385,1386,1388,148327,468,64764,84699,90993,9586) -> 5443
Class
nt06360 Cushing syndrome
Type
Variant
Pathway
hsa04934  Cushing syndrome
Disease
H01431  Cushing syndrome
H01102  Pituitary adenomas
Gene
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
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
5443  POMC; proopiomelanocortin
Variant
2778v1 (GNAS*)  GNAS activating mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
PMID:25877147
  Authors
Fukuoka H, Takahashi Y
  Title
The role of genetic and epigenetic changes in pituitary tumorigenesis.
  Journal
Neurol Med Chir (Tokyo) 54 Suppl 3:943-57 (2014)
DOI:10.2176/nmc.suppl.2014-3
Reference
PMID:21423242
  Authors
Melmed S
  Title
Pathogenesis of pituitary tumors.
  Journal
Nat Rev Endocrinol 7:257-66 (2011)
DOI:10.1038/nrendo.2011.40
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