 | | NETWORK: N00783 | |
Entry |
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Name |
Mutation-inactivated TSH to TSH-TG signaling pathway
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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 |
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Type |
Variant
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Disease |
H00250 | Congenital nongoitrous hypothyroidism (CHNG) |
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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 |
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 |
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Variant |
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Metabolite |
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Reference |
|
Authors |
Vono-Toniolo J, Kopp P |
Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
Journal |
|
Reference |
|
Authors |
Muthukrishnan J, Harikumar KV, Verma A, Modi K |
Title |
Central hypothyroidism. |
Journal |
|
Reference |
|
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 |
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LinkDB |
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