KEGG   NETWORK: N00784
Entry
N00784                      Network                                

Name
Mutation-inactivated TSHR to TSH-TG signaling pathway
Definition
TSHB // TSHR* // GNAS -> ADCY -> cAMP -> PKA -> (TTF1,TTF2,PAX8,CREB) => TG
  Expanded
7252 // 7253v1 // 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
Disease
H00250  Congenital nongoitrous hypothyroidism (CHNG)
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
7253v1 (TSHR*)  TSHR inactivating mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
LinkDB

DBGET integrated database retrieval system