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 |
|---|---|---|---|---|---|
OMIM IDMIM:602690 Ensembl IDEnsembl:ENSG00000204370 HGNC IDHGNC:HGNC:10683 PHARMGKB IDPA35608 Map Location11q23.1 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SDHD
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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