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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
succinate dehydrogenase complex subunit D | MIM:602690 | Ensembl:ENSG00000204370 | HGNC:HGNC:10683 | PA35608 | 11q23.1 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in SDHD
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IDA | GO:0000104 | succinate dehydrogenase activity |
MF | IBA | GO:0008177 | succinate dehydrogenase (ubiquinone) activity |
MF | TAS | GO:0009055 | electron transfer activity |
MF | IBA | GO:0020037 | heme binding |
MF | ISS | GO:0020037 | heme binding |
MF | IEA | GO:0046872 | metal ion binding |
MF | IBA | GO:0048039 | ubiquinone binding |
MF | ISS | GO:0048039 | ubiquinone binding |
CC | TAS | GO:0005739 | mitochondrion |
CC | TAS | GO:0005740 | mitochondrial envelope |
CC | IDA | GO:0005743 | mitochondrial inner membrane |
CC | ISS | GO:0005743 | mitochondrial inner membrane |
CC | TAS | GO:0005743 | mitochondrial inner membrane |
CC | IBA | GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) |
CC | ISS | GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) |
CC | IEA | GO:0016021 | integral component of membrane |
BP | IBA | GO:0006099 | tricarboxylic acid cycle |
BP | IDA | GO:0006099 | tricarboxylic acid cycle |
BP | IEA | GO:0006099 | tricarboxylic acid cycle |
BP | IBA | GO:0006121 | mitochondrial 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
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa00020 | Citrate cycle (TCA cycle) - Homo sapiens (human) |
kegg | hsa00190 | Oxidative phosphorylation - Homo sapiens (human) |
kegg | hsa04714 | Thermogenesis - Homo sapiens (human) |
kegg | hsa04932 | Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human) |
kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
kegg | hsa05012 | Parkinson,s disease - Homo sapiens (human) |
kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
humancyc | PWY66-398 | TCA cycle |
humancyc | PWY66-407 | superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle |
smpdb | SMP00057 | Citric Acid Cycle |
smpdb | SMP00355 | Mitochondrial Electron Transport Chain |
smpdb | SMP00546 | Congenital lactic acidosis |
smpdb | SMP00547 | Fumarase deficiency |
smpdb | SMP00548 | Mitochondrial complex II deficiency |
smpdb | SMP00549 | 2-ketoglutarate dehydrogenase complex deficiency |
smpdb | SMP00550 | Pyruvate dehydrogenase deficiency (E3) |
smpdb | SMP00551 | Pyruvate dehydrogenase deficiency (E2) |
smpdb | SMP00654 | Warburg Effect |
smpdb | SMP02291 | The oncogenic action of 2-hydroxyglutarate |
smpdb | SMP02292 | The oncogenic action of Succinate |
smpdb | SMP02295 | The oncogenic action of Fumarate |
smpdb | SMP02298 | Glutaminolysis and Cancer |
smpdb | SMP02358 | The oncogenic action of L-2-hydroxyglutarate in Hydroxygluaricaciduria |
smpdb | SMP02359 | The oncogenic action of D-2-hydroxyglutarate in Hydroxygluaricaciduria |
wikipathways | WP111 | Electron Transport Chain |
wikipathways | WP78 | TCA Cycle |
reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-163200 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
reactome | R-HSA-611105 | Respiratory electron transport |
reactome | R-HSA-71403 | Citric acid cycle (TCA cycle) |
reactome | R-HSA-71406 | Pyruvate metabolism and Citric Acid (TCA) cycle |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD748 | PHA-665752 | 1 |
iGMDRD360 | SB-505124 | 1 |
iGMDRD88 | AICA ribonucleotide | 1 |
iGMDRD456 | Crizotinib | 1 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in SDHD