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Entry
N00797                      Network                                

Name
Mutation-activated TSHR to TSH-TG signaling pathway
Definition
TSHB -> TSHR* -> GNAS -> ADCY -> cAMP -> PKA -> (TTF1,TTF2,PAX8,CREB) => TG
  Expanded
7252 -> 7253v2 -> 2778 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568) -> (7270,8458,7849,(10488,1385,1386,1388,148327,468,64764,84699,90993,9586)) => 7038
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Pathway
hsa04918  Thyroid hormone synthesis
Disease
H01269  Congenital hyperthyroidism
Gene
7252  TSHB; thyroid stimulating hormone subunit beta
7253  TSHR; thyroid stimulating hormone receptor
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
7270  TTF1; transcription termination factor 1
8458  TTF2; transcription termination factor 2
7849  PAX8; paired box 8
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
7038  TG; thyroglobulin
Variant
7253v2  TSHR activating mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Hebrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclere J
  Title
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
  Journal
Eur J Endocrinol 164:1-9 (2011)
DOI:10.1530/EJE-10-0775
Reference
  Authors
Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK
  Title
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
  Journal
Ann Pediatr Endocrinol Metab 23:235-239 (2018)
DOI:10.6065/apem.2018.23.4.235
Reference
PMID:8981020
  Authors
Paschke R
  Title
Constitutively activating TSH receptor mutations as the cause of toxic thyroid adenoma, multinodular toxic goiter and autosomal dominant non autoimmune hyperthyroidism.
  Journal
Exp Clin Endocrinol Diabetes 104 Suppl 4:129-32 (1996)
DOI:10.1055/s-0029-1211720

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