Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism (Homo sapiens)

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Gene product38ER463839144243427431538101583138344824331464514394321443139453241314527383972842611431438254325344145483423282222314381312391145363910272233116382834353845432344338393929434778434425334520433432439175, 1838394543820438253323374523412125433344331453445472520281373925463936348252134418342536432811, 404321453428Cell cycle arrestCell survivalmTORGlucose transportMAPK signallingCell growth, proliferationand protein synthesisEndocytoseNeuronTranslocationApical membraneAHNFFAmim-cleavageARCHypothalamusCold or overfeedingmim-inhibitionThyroid follicular cellFollicular lumenAnterior pituitaryProliferative signallingProduction of DIO1, DIO2 and DIO3mim-binding PVNGs stimulationGlutathione metabolismNodesSpontaneous crosslinkingPreoptic areaNucleusERBasalmembraneData node for a gene product which mutation result in CHLiverNucleusEdgesPancreasLegendLipolysisCell differentiationmim-catalyzationmim-stimulationData node for a metaboliteNucleusData node for a pathwayHeat productionin brown ATCell proliferationBloodData node for a gene or its productGrowthDifferentiationTH productionProteolytic cleavageNucleusGq stimulationmim-conversionB cell maturationTo liverphosphorylationInsulin secretionTREGs stimulationSympathetic nervous systemGlial cellLipid dropletAdipose tissueHypoxiaPOMCiodidePKGAS160NOTCH signallingSLC26A4PRDM16ATF2PAX8NOTCHDIO1T3MITFGF21MCT8ZNF516GRB2Adenylate cyclaseTSC2RPS6KB1ITGBCREBRHEBMDM2MKK3BNPMAFAT4RHEBmTORFOXO1GSK3BTCA cycleTG bound MIT, DIT, T3 and T4S6DAGSHHNP-RT3PPARGTHRSLCO1C1B-CateninASK1TSHRNorepinephrineT4T3UCP1TBG bound T4NHSLPKCMEKT4BADTTF1ERKSECISBP2LWntRASANPFRS2AKTWnt signallingTGAGRPJMJD1BT3NADP+RAF1TGPLINcAMPAQP7TSC1p38MGLLITGAH+IP3SLC16A10IP3RDUOXA2FFARAPTORSIRT6SRCRasMLST8TPOtRNAsecSLC5A5TSC2FGFR1T3TSHKDM1APFKFB2ATGLNa+IYDPIP3PRAS40DUOX2PKAKLBRXRMC4RH2O2CASP9NADPHACcGMPiodideAlbumin bound T4CREBInflammationmTORTTR bound T4Oxidative phosphorylationGlycerolPCG-1Beta-3 ARTTF2TRHoxygenHypothalamic AMPK ACTL6BPI3KCa2+P53THRB1mTORSOSRPS6KA6NPYiodidePLCTG bound MIT and DITTG bound MIT, DIT, T3 and T4TBG bound T3Albumin bound T3TTR bound T3MCT8cAMPPKAphosphorylationDGMG4141FGF21454545phosphorylationphosphorylationphosphorylationUCP125MCT8MCT8DIO2T4T3DIO2MCT8MCT8T3T2SHHDIO3NucleusT3SLC16A10ITGB36ITGA99T39THRA14212518Glucose metabolism19DAGPKCIP3IP3RCa2+PLC3434343434cAMP34PKATHR26, 34RXRNucleusT3MCT8T4MCT8T4T3DIO2Na+RXRT3THRB1iodideDITT3THRRXRT3Proliferative signalling2H+T35, 18Norepinephrine5, 18TRETRETREMetabolite38Gene productPathway


Description

Congenital hypothyroidism is a genetic hormonal disorder regarding the thyroid hormone. Due dyshormonogenesis, the production of the thyroid hormones is impaired resulting in increased birth weight, reduced LDL breakdown, decreased lipolysis, impaired glucose metabolism and decreased body temperature. Above, an overview of thyroid hormones production occurring in thyroid gland and their relevant downstream signalling is displayed. As the legend states, genes known te be affected by mutations leading to congenital hypothyroidism are colored red.

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Bibliography

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History

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CompareRevisionActionTimeUserComment
108781view13:57, 29 January 2020Rik-lahaije
108638view08:52, 14 January 2020Rik-lahaijechanged nodes
108396view20:35, 16 December 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
108391view13:22, 16 December 2019Rik-lahaijelines
108390view13:13, 16 December 2019Rik-lahaijeModified description
108389view12:57, 16 December 2019Rik-lahaijeannotations
108388view12:52, 16 December 2019Rik-lahaijechanged legend
108387view12:46, 16 December 2019Rik-lahaije
108378view10:24, 15 December 2019Marvin M2Connected lines and converted some into graphical lines
108263view14:56, 3 December 2019L DupuisConverted interactions to graphical lines in legend
108262view14:55, 3 December 2019L DupuisConnected unconnected lines
108096view12:55, 28 November 2019FehrhartOntology Term : 'congenital hypothyroidism' added !
108095view12:52, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
107964view09:26, 18 November 2019FehrhartOntology Term : 'thyroid-stimulating hormone signaling pathway' added !
107960view09:14, 14 November 2019Rik-lahaijeModified description
107959view09:09, 14 November 2019Rik-lahaijeModified title
107958view09:09, 14 November 2019Rik-lahaijeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ACProteinA0A0K0K1K3 (Uniprot-TrEMBL)
ACTL6BGeneProductENSG00000077080 (Ensembl)
AGRPGeneProductENSG00000159723 (Ensembl)
AKTGeneProductENSG00000117020 (Ensembl)
ANPProteinA0A087X094 (Uniprot-TrEMBL)
AQP7GeneProductENSG00000165269 (Ensembl)
AS160GeneProductENSG00000136111 (Ensembl)
ASK1ProteinG3V4Q4 (Uniprot-TrEMBL)
ATF2GeneProductENSG00000115966 (Ensembl)
ATGLProteinQ96AD5 (Uniprot-TrEMBL)
Adenylate cyclaseProteinA0A0A0MSC1 (Uniprot-TrEMBL)
Albumin bound T3ComplexCHEBI:18258 (ChEBI)
Albumin bound T4ComplexCHEBI:75602 (ChEBI)
B-Catenin GeneProductENSG00000168036 (Ensembl)
BADGeneProductENSG00000002330 (Ensembl)
BNPProteinP16860 (Uniprot-TrEMBL)
Beta-3 ARProteinP13945 (Uniprot-TrEMBL)
CASP9GeneProductENSG00000132906 (Ensembl)
CREB GeneProductENSG00000107175 (Ensembl)
Ca2+MetaboliteCHEBI:22984 (ChEBI)
Cell cycle arrestPathwayWP3804 (WikiPathways)
Cell growth, proliferation and protein synthesisPathwayWP3318 (WikiPathways)
Cell survivalPathwayhsa04211 (KEGG Pathway)
DAGMetaboliteCHEBI:18035 (ChEBI)
DGMetaboliteCHEBI:18035 (ChEBI)
DIO1GeneProductENSG00000211452 (Ensembl)
DIO2GeneProductENSG00000211448 (Ensembl)
DIO3GeneProductENSG00000197406 (Ensembl)
DITMetaboliteCHEBI:23796 (ChEBI)
DUOX2GeneProductENSG00000140279 (Ensembl)
DUOXA2GeneProductENSG00000140274 (Ensembl)
ERKProteinP28482 (Uniprot-TrEMBL)
FFAMetaboliteCHEBI:35366 (ChEBI)
FGF21GeneProductENSG00000105550 (Ensembl)
FGFR1GeneProductENSG00000077782 (Ensembl)
FOXO1GeneProductENSG00000150907 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GSK3BGeneProductENSG00000082701 (Ensembl)
Glucose metabolismPathwayWP661 (WikiPathways)
Glucose transportPathwayhsa04931 (KEGG Pathway)
GlycerolMetaboliteCHEBI:17754 (ChEBI)
H+MetaboliteCHEBI:15378 (ChEBI)
H2O2MetaboliteCHEBI:16240 (ChEBI)
Hypothalamic AMPK MetaboliteCHEBI:85053 (ChEBI)
IP3MetaboliteCHEBI:16595 (ChEBI)
IP3RGeneProductENSG00000123104 (Ensembl)
ITGAGeneProductENSG00000138448 (Ensembl)
ITGBGeneProductENSG00000259207 (Ensembl)
IYDGeneProductENSG00000009765 (Ensembl)
InflammationPathwayWP453 (WikiPathways)
JMJD1BProteinQ7LBC6 (Uniprot-TrEMBL)
KDM1AGeneProductENSG00000004487 (Ensembl)
KLBGeneProductENSG00000134962 (Ensembl)
MAFAGeneProductENSG00000182759 (Ensembl)
MAPK signallingPathwayWP1403 (WikiPathways)
MC4RGeneProductENSG00000166603 (Ensembl)
MCT8ProteinP36021 (Uniprot-TrEMBL)
MDM2GeneProductENSG00000135679 (Ensembl)
MEKProteinQ02750 (Uniprot-TrEMBL)
MGMetaboliteCHEBI:17408 (ChEBI)
MGLLGeneProductENSG00000074416 (Ensembl)
MITMetaboliteCHEBI:25400 (ChEBI)
MKK3 ProteinA0A024R2W7 (Uniprot-TrEMBL)
MLST8GeneProductENSG00000167965 (Ensembl)
NADP+MetaboliteCHEBI:18009 (ChEBI)
NADPHMetaboliteCHEBI:16474 (ChEBI)
NHSLGeneProductENSG00000135540 (Ensembl)
NOTCH signallingPathwaymap04330 (KEGG Pathway)
NOTCHGeneProductENSG00000148400 (Ensembl)
NP-RProteinP16066 (Uniprot-TrEMBL)
NPYGeneProductENSG00000122585 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
NorepinephrineMetaboliteCHEBI:33569 (ChEBI)
Oxidative phosphorylationPathwaymap00190 (KEGG Pathway)
P53GeneProductENSG00000141510 (Ensembl)
PAX8ProteinA0A140TA56 (Uniprot-TrEMBL)
PCG-1 GeneProductENSG00000109819 (Ensembl)
PFKFB2GeneProduct