KEGG   NETWORK: N00783
Entry
N00783                      Network                                

Name
Mutation-inactivated TSH to TSH-TG signaling pathway
Definition
TSHB* // TSHR -> GNAS -> ADCY -> cAMP -> PKA -> (TTF1,TTF2,PAX8,CREB) => TG
  Expanded
7252v1 // 7253 -> 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
7252v1 (TSHB*)  TSHB mutation
Metabolite
C00575  3',5'-Cyclic AMP
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
Reference
  Authors
Muthukrishnan J, Harikumar KV, Verma A, Modi K
  Title
Central hypothyroidism.
  Journal
Indian J Pediatr 77:94-6 (2010)
DOI:10.1007/s12098-009-0248-1
Reference
PMID:1971148
  Authors
Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC
  Title
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
  Journal
Am J Hum Genet 46:988-93 (1990)
Reference
  Authors
Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N
  Title
Molecular spectrum of TSHbeta subunit gene defects in central hypothyroidism in the UK and Ireland.
  Journal
Clin Endocrinol (Oxf) 86:410-418 (2017)
DOI:10.1111/cen.13149
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