 | | 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 |
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| 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 |
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| 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 |
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| Authors |
Vono-Toniolo J, Kopp P |
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| Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
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| Journal |
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| Reference |
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| Authors |
Muthukrishnan J, Harikumar KV, Verma A, Modi K |
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| Title |
Central hypothyroidism. |
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| Journal |
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| Reference |
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| Authors |
Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC |
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| Title |
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. |
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| Journal |
Am J Hum Genet 46:988-93 (1990) |
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| Reference |
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| Authors |
Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N |
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| Title |
Molecular spectrum of TSHbeta subunit gene defects in central hypothyroidism in the UK and Ireland. |
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| Journal |
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| LinkDB |
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