SDHD


Summary: This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
succinate dehydrogenase complex subunit DMIM:602690Ensembl:ENSG00000204370HGNC:HGNC:10683PA3560811q23.1

Gene Categories:

CLINICALLY ACTIONABLE

GO terms in SDHD


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0000104succinate dehydrogenase activity
MFIBAGO:0008177succinate dehydrogenase (ubiquinone) activity
MFTASGO:0009055electron transfer activity
MFIBAGO:0020037heme binding
MFISSGO:0020037heme binding
MFIEAGO:0046872metal ion binding
MFIBAGO:0048039ubiquinone binding
MFISSGO:0048039ubiquinone binding
CCTASGO:0005739mitochondrion
CCTASGO:0005740mitochondrial envelope
CCIDAGO:0005743mitochondrial inner membrane
CCISSGO:0005743mitochondrial inner membrane
CCTASGO:0005743mitochondrial inner membrane
CCIBAGO:0005749mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)
CCISSGO:0005749mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)
CCIEAGO:0016021integral component of membrane
BPIBAGO:0006099tricarboxylic acid cycle
BPIDAGO:0006099tricarboxylic acid cycle
BPIEAGO:0006099tricarboxylic acid cycle
BPIBAGO:0006121mitochondrial electron transport, succinate to ubiquinone

Gene expression in normal tissue: SDHD

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SDHD


DatabasePathway IDPathway Des.
kegghsa00020Citrate cycle (TCA cycle) - Homo sapiens (human)
kegghsa00190Oxidative phosphorylation - Homo sapiens (human)
kegghsa04714Thermogenesis - Homo sapiens (human)
kegghsa04932Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human)
kegghsa05010Alzheimer,s disease - Homo sapiens (human)
kegghsa05012Parkinson,s disease - Homo sapiens (human)
kegghsa05016Huntington,s disease - Homo sapiens (human)
humancycPWY66-398TCA cycle
humancycPWY66-407superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
smpdbSMP00057Citric Acid Cycle
smpdbSMP00355Mitochondrial Electron Transport Chain
smpdbSMP00546Congenital lactic acidosis
smpdbSMP00547Fumarase deficiency
smpdbSMP00548Mitochondrial complex II deficiency
smpdbSMP005492-ketoglutarate dehydrogenase complex deficiency
smpdbSMP00550Pyruvate dehydrogenase deficiency (E3)
smpdbSMP00551Pyruvate dehydrogenase deficiency (E2)
smpdbSMP00654Warburg Effect
smpdbSMP02291The oncogenic action of 2-hydroxyglutarate
smpdbSMP02292The oncogenic action of Succinate
smpdbSMP02295The oncogenic action of Fumarate
smpdbSMP02298Glutaminolysis and Cancer
smpdbSMP02358The oncogenic action of L-2-hydroxyglutarate in Hydroxygluaricaciduria
smpdbSMP02359The oncogenic action of D-2-hydroxyglutarate in Hydroxygluaricaciduria
wikipathwaysWP111Electron Transport Chain
wikipathwaysWP78TCA Cycle
reactomeR-HSA-1428517The citric acid (TCA) cycle and respiratory electron transport
reactomeR-HSA-1428517The citric acid (TCA) cycle and respiratory electron transport
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-163200Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
reactomeR-HSA-611105Respiratory electron transport
reactomeR-HSA-71403Citric acid cycle (TCA cycle)
reactomeR-HSA-71406Pyruvate metabolism and Citric Acid (TCA) cycle

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD748PHA-6657521
iGMDRD360SB-5051241
iGMDRD88AICA ribonucleotide1
iGMDRD456Crizotinib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SDHD

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