{ "uniprot_canonical_ac": "O14521-1", "uniprot_ac": "O14521", "uniprot_id": "DHSD_HUMAN", "mass": { "chemical_mass": 17043.0, "monoisotopic_mass": 17043.0 }, "refseq": { "ac": "NP_001263432", "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor", "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432" }, "gene_names": [ { "name": "SDHD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14521", "id": "O14521" }, { "name": "CBT1; CII-4; CWS3; cybS; MC2DN3; PGL; PGL1; PPGL1; QPs3; SDH4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432", "id": "NP_001263432" }, { "name": "SDH4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14521", "id": "O14521" }, { "name": "SDHD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432", "id": "NP_001263432" }, { "name": "hCG_2032955", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14521", "id": "O14521" } ], "protein_names": [ { "name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14521" }, { "name": "CII-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14521" }, { "name": "CybS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14521" }, { "name": "QPs3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14521" }, { "name": "Succinate dehydrogenase complex subunit D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14521" }, { "name": "Succinate-ubiquinone oxidoreductase cytochrome b small subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14521" }, { "name": "Succinate-ubiquinone reductase membrane anchor subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14521" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432", "id": "NP_001263432" }, { "name": "succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; succinate-ubiquinone reductase membrane anchor subunit; succinate-ubiquinone oxidoreductase cytochrome b small subunit; succinate dehydrogenase complex subunit D integral membrane protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432", "id": "NP_001263432" } ], "function": [ { "annotation": "Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001263432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432" }, { "database": "PubMed", "id": "37011647", "url": "https://glygen.org/publication/PubMed/37011647" } ] }, { "annotation": "Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001263432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432" }, { "database": "PubMed", "id": "36786389", "url": "https://glygen.org/publication/PubMed/36786389" } ] }, { "annotation": "Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).", "evidence": [ { "database": "UniProtKB", "id": "H0YD96", "url": "https://www.uniprot.org/uniprot/H0YD96#function" }, { "database": "UniProtKB", "id": "RU364031", "url": "https://www.uniprot.org/uniprot/RU364031#function" }, { "database": "UniProtKB", "id": "ARBA00002027", "url": "https://www.uniprot.org/uniprot/ARBA00002027#function" }, { "database": "UniProtKB", "id": "E9PK73", "url": "https://www.uniprot.org/uniprot/E9PK73#function" }, { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521#function" }, { "database": "UniProtKB", "id": "G3V173", "url": "https://www.uniprot.org/uniprot/G3V173#function" } ] }, { "annotation": "Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001263432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432" }, { "database": "PubMed", "id": "23291190", "url": "https://glygen.org/publication/PubMed/23291190" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001263432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263432" } ] } ], "disease": [ { "disease_id": "DOID:0050771", "recommended_name": { "id": "DOID:0050771", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure." }, "synonyms": [ { "id": "DOID:0050771", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050771", "name": "phaeochromocytoma", "description": "" }, { "id": "MONDO:0008233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008233", "name": "pheochromocytoma", "description": "" }, { "id": "MONDO:0008233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008233", "name": "phaeochromocytoma", "description": "" }, { "id": "MONDO:0008233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008233", "name": "pheochromocytoma", "description": "" }, { "id": "MONDO:0008233", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008233", "name": "pheochromocytoma, susceptibility to", "description": "" }, { "id": "MIM:171300", "resource": "MIM", "url": "https://www.omim.org/entry/171300", "name": "Pheochromocytoma", "description": "Pheochromocytoma" } ], "evidence": [ { "id": "171300", "database": "MIM", "url": "https://www.omim.org/entry/171300" } ] }, { "disease_id": "DOID:0050773", "recommended_name": { "id": "DOID:0050773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050773", "name": "paraganglioma", "description": "A pheochromocytoma that arises in extraadrenal sympathetic ganglia." }, "synonyms": [ { "id": "DOID:0050773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050773", "name": "chemodectoma", "description": "" }, { "id": "DOID:0050773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050773", "name": "glomus body tumor", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "paragangliomas 3", "description": "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "SDHC paraganglioma", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "paraganglioma caused by mutation in SDHC", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "paragangliomas 3", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "paragangliomas type 3", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "PGL3", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)", "description": "" }, { "id": "MONDO:0011544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011544", "name": "glomus tumors, familial, 3", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas 1", "description": "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "SDHD paraganglioma", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paraganglioma caused by mutation in SDHD", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas 1", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas 1, with or without deafness", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas type 1", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "PGL1", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "Paragangliomata", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "carotid body tumors", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "carotid body tumours", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "chemodectomas", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "glomus jugulare tumors", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "glomus jugulare tumours", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "glomus tumors, familial, 1", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paraganglioma, carotid body", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas with sensorineural hearing loss", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas, familial nonchromaffin, 1", "description": "" }, { "id": "MONDO:0008192", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008192", "name": "paragangliomas, familial, 1", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "paragangliomas 4", "description": "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "SDHB paraganglioma", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "paraganglioma caused by mutation in SDHB", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "paragangliomas 4", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "paragangliomas type 4", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "PGL4", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "carotid body tumors and multiple extraadrenal Pheochromocytomas", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "carotid body tumours and multiple extraadrenal Pheochromocytomas", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "paraganglioma, familial malignant", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "paragangliomas, hereditary extraadrenal", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "pheochromocytoma, extraadrenal and cervical paraganglioma", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "pheochromocytoma, extraadrenal, and cervical paraganglioma", "description": "" }, { "id": "MONDO:0007273", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007273", "name": "pheochromocytoma, familial extraadrenal", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "paragangliomas 2", "description": "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "SDHAF2 paraganglioma", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "paraganglioma caused by mutation in SDHAF2", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "paragangliomas 2", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "paragangliomas type 2", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "PGL2", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)", "description": "" }, { "id": "MONDO:0011121", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011121", "name": "glomus tumors, familial, 2", "description": "" }, { "id": "MONDO:0013602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013602", "name": "paragangliomas 5", "description": "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." }, { "id": "MONDO:0013602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013602", "name": "SDHA paraganglioma", "description": "" }, { "id": "MONDO:0013602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013602", "name": "paraganglioma caused by mutation in SDHA", "description": "" }, { "id": "MONDO:0013602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013602", "name": "paragangliomas 5", "description": "" }, { "id": "MONDO:0013602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013602", "name": "paragangliomas type 5", "description": "" }, { "id": "MONDO:0013602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013602", "name": "PGL5", "description": "" }, { "id": "MIM:605373", "resource": "MIM", "url": "https://www.omim.org/entry/605373", "name": "Paragangliomas 3", "description": "Paragangliomas 3" }, { "id": "MIM:168000", "resource": "MIM", "url": "https://www.omim.org/entry/168000", "name": "Paragangliomas 1", "description": "Paragangliomas 1" }, { "id": "MIM:115310", "resource": "MIM", "url": "https://www.omim.org/entry/115310", "name": "Paragangliomas 4", "description": "Paragangliomas 4" }, { "id": "MIM:601650", "resource": "MIM", "url": "https://www.omim.org/entry/601650", "name": "Paragangliomas 2", "description": "Paragangliomas 2" }, { "id": "MIM:614165", "resource": "MIM", "url": "https://www.omim.org/entry/614165", "name": "Paragangliomas 5", "description": "Paragangliomas 5" } ], "evidence": [ { "id": "168000", "database": "MIM", "url": "https://www.omim.org/entry/168000" } ] }, { "disease_id": "DOID:0080533", "recommended_name": { "id": "DOID:0080533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080533", "name": "Carney-Stratakis syndrome", "description": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors." }, "synonyms": [ { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "Carney-Stratakis syndrome", "description": "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "Carney dyad", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "Carney-Stratakis dyad", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "Carney-Stratakis syndrome", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "gist-paraganglioma dyad", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "paraganglioma and gastric stromal sarcoma", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "paraganglioma and gastrointestinal stromal tumor", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "paraganglioma and gastrointestinal stromal tumour", "description": "" }, { "id": "MONDO:0011740", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011740", "name": "paraganglioma and gist", "description": "" }, { "id": "MIM:606864", "resource": "MIM", "url": "https://www.omim.org/entry/606864", "name": "Paraganglioma and gastric stromal sarcoma", "description": "Paraganglioma and gastric stromal sarcoma" } ], "evidence": [ { "id": "606864", "database": "MIM", "url": "https://www.omim.org/entry/606864" } ] }, { "disease_id": "MONDO:0030937", "recommended_name": { "id": "MONDO:0030937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030937", "name": "mitochondrial complex 2 deficiency, nuclear type 3", "description": "" }, "synonyms": [ { "id": "MONDO:0030937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030937", "name": "MC2DN3", "description": "" }, { "id": "MONDO:0030937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030937", "name": "mitochondrial complex 2 deficiency, nuclear type 3", "description": "" }, { "id": "MONDO:0030937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030937", "name": "mitochondrial complex II deficiency, nuclear type 3", "description": "" }, { "id": "MIM:619167", "resource": "MIM", "url": "https://www.omim.org/entry/619167", "name": "Mitochondrial complex II deficiency, nuclear type 3", "description": "Mitochondrial complex II deficiency, nuclear type 3" } ], "evidence": [ { "id": "619167", "database": "MIM", "url": "https://www.omim.org/entry/619167" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204370" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14521" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", 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"database": "BioXpress", "id": "O14521", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14521" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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OS=Homo sapiens OX=9606 GN=SDHD PE=1 SV=1 CANONICAL=O14521-1" }, "locus": { "chromosome": "11", "start_pos": 112093194, "end_pos": 112086908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526592.5", "url": "https://www.ensembl.org/id/ENST00000526592.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432005.1", "url": "https://www.ensembl.org/id/ENSP00000432005.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O14521", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14521" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "10482792", "url": "https://glygen.org/publication/PubMed/10482792" } ] }, { "title": "Aconitase polymorphism in man.", "journal": "Annals of human genetics", "date": "1975", "authors": "Slaughter CA, Hopkinson DA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "1052766", "url": "https://glygen.org/publication/PubMed/1052766" } ] }, { "title": "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "10657297", "url": "https://glygen.org/publication/PubMed/10657297" } ] }, { "title": "The high-resolution structure of the NADP(H)-binding component (dIII) of proton-translocating transhydrogenase from human heart mitochondria.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "White SA, Peake SJ, McSweeney S, Leonard G, Cotton NP, Jackson JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "10673423", "url": "https://glygen.org/publication/PubMed/10673423" } ] }, { "title": "Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Furuyama K, Sassa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "10727444", "url": "https://glygen.org/publication/PubMed/10727444" } ] }, { "title": "Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.", "journal": "Cancer research", "date": "2000", "authors": "Gimm O, Armanios M, Dziema H, Neumann HP, Eng C", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "11156372", "url": "https://glygen.org/publication/PubMed/11156372" } ] }, { "title": "Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.", "journal": "American journal of medical genetics", "date": "2001", "authors": "Milunsky JM, Maher TA, Michels VV, Milunsky A", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "11343322", "url": "https://glygen.org/publication/PubMed/11343322" } ] }, { "title": "Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.", "journal": "Genes, chromosomes & cancer", "date": "2001", "authors": "Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "11391796", "url": "https://glygen.org/publication/PubMed/11391796" } ] }, { "title": "Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.", "journal": "Genes, chromosomes & cancer", "date": "2001", "authors": "Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "11391798", "url": "https://glygen.org/publication/PubMed/11391798" } ] }, { "title": "Germline SDHD mutation in paraganglioma of the spinal cord.", "journal": "Oncogene", "date": "2001", "authors": "Masuoka J, Brandner S, Paulus W, Soffer D, Vital A, Chimelli L, Jouvet A, Yonekawa Y, Kleihues P, Ohgaki H", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "11526495", "url": "https://glygen.org/publication/PubMed/11526495" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhou ZH, McCarthy DB, O'Connor CM, Reed LJ, Stoops JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "11752427", "url": "https://glygen.org/publication/PubMed/11752427" } ] }, { "title": "Germ-line mutations in nonsyndromic pheochromocytoma.", "journal": "The New England journal of medicine", "date": "2002", "authors": "Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "12000816", "url": "https://glygen.org/publication/PubMed/12000816" } ] }, { "title": "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.", "journal": "Genes, chromosomes & cancer", "date": "2002", "authors": "Kytola S, Nord B, Elder EE, Carling T, Kjellman M, Cedermark B, Juhlin C, Hoog A, Isola J, Larsson C", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "12007193", "url": "https://glygen.org/publication/PubMed/12007193" } ] }, { "title": "Crystal structure of porcine mitochondrial NADP+-dependent isocitrate dehydrogenase complexed with Mn2+ and isocitrate. Insights into the enzyme mechanism.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ceccarelli C, Grodsky NB, Ariyaratne N, Colman RF, Bahnson BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "12207025", "url": "https://glygen.org/publication/PubMed/12207025" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "G12S and H50R variations are polymorphisms in the SDHD gene.", "journal": "Genes, chromosomes & cancer", "date": "2003", "authors": "Cascon A, Ruiz-Llorente S, Cebrian A, Leton R, Telleria D, Benitez J, Robledo M", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "12696072", "url": "https://glygen.org/publication/PubMed/12696072" } ] }, { "title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12837546", "url": "https://glygen.org/publication/PubMed/12837546" } ] }, { "title": "Crystal structures of substrate complexes of malic enzyme and insights into the catalytic mechanism.", "journal": "Structure (London, England : 1993)", "date": "2003", "authors": "Tao X, Yang Z, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "12962632", "url": "https://glygen.org/publication/PubMed/12962632" } ] }, { "title": "Guanosine triphosphate, the primary product of phosphorylation coupled to the breakdown of succinyl coenzyme A.", "journal": "Biochimica et biophysica acta", "date": "1954", "authors": "SANADI DR, GIBSON M, AYENGAR P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "13181903", "url": "https://glygen.org/publication/PubMed/13181903" } ] }, { "title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.", "journal": "FEBS letters", "date": "1992", "authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "1327877", "url": "https://glygen.org/publication/PubMed/1327877" } ] }, { "title": "STUDIES ON SUCCINATE DEHYDROGENASE. I. SPECTRAL PROPERTIES OF THE PURIFIED ENZYME AND FORMATION OF ENZYME-COMPETITIVE INHIBITOR COMPLEXES.", "journal": "Biochimica et biophysica acta", "date": "1964", "authors": "DERVARTANIAN DV, VEEGER C", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14249115", "url": "https://glygen.org/publication/PubMed/14249115" } ] }, { "title": "Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.", "journal": "Cancer research", "date": "2003", "authors": "Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "14500403", "url": "https://glygen.org/publication/PubMed/14500403" } ] }, { "title": "Evaluation by mutagenesis of the importance of 3 arginines in alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Soundar S, Park JH, Huh TL, Colman RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14555658", "url": "https://glygen.org/publication/PubMed/14555658" } ] }, { "title": "Structure and function of malic enzymes, a new class of oxidative decarboxylases.", "journal": "Biochemistry", "date": "2003", "authors": "Chang GG, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14596586", "url": "https://glygen.org/publication/PubMed/14596586" } ] }, { "title": "The gross structure of the respiratory complex I: a Lego System.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Friedrich T, Bottcher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "14741580", "url": "https://glygen.org/publication/PubMed/14741580" } ] }, { "title": "Di- and triphosphopyridine nucleotide isocitric dehydrogenases in yeast.", "journal": "The Journal of biological chemistry", "date": "1951", "authors": "KORNBERG A, PRICER WE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14832224", "url": "https://glygen.org/publication/PubMed/14832224" } ] }, { "title": "The inhibitory effects of itaconic acid in vitro and in vivo.", "journal": "The Journal of biological chemistry", "date": "1952", "authors": "BOOTH AN, TAYLOR J, WILSON RH, DEEDS F", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14946179", "url": "https://glygen.org/publication/PubMed/14946179" } ] }, { "title": "SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.", "journal": "Clinical genetics", "date": "2004", "authors": "Leube B, Huber R, Goecke TO, Sandmann W, Royer-Pokora B", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "15032977", "url": "https://glygen.org/publication/PubMed/15032977" } ] }, { "title": "Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Lambeth DO, Tews KN, Adkins S, Frohlich D, Milavetz BI", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15234968", "url": "https://glygen.org/publication/PubMed/15234968" } ] }, { "title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.", "journal": "The Biochemical journal", "date": "2004", "authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "15250827", "url": "https://glygen.org/publication/PubMed/15250827" } ] }, { "title": "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.", "journal": "JAMA", "date": "2004", "authors": "Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C", "evidence": [ { "database": "UniProtKB", "id": "O14521", "url": "https://www.uniprot.org/uniprot/O14521" } ], "reference": [ { "type": "PubMed", "id": "15328326", "url": "https://glygen.org/publication/PubMed/15328326" } ] }, { "title": "No evidence for involvement of SDHD in neuroblastoma pathogenesis.", "journal": "BMC cancer", "date": "2004", "authors": "De Preter K, Vandesompele J, Hoebeeck J, Vandenbroecke C, Smet J, Nuyts A, Laureys G, Combaret V, Van Roy N, Roels F, Van Coster R, Praet M, De Paepe A, Speleman F", "evidence": [ { "database": "Entrez", "id": "6392", "url": "https://www.ncbi.nlm.nih.gov/gene/6392" } ], "reference": [ { "type": "PubMed", "id": "15331017", "url": "https://glygen.org/publication/PubMed/15331017" } ] }, { "title": "X-ray structure of fumarylacetoacetate hydrolase family member Homo 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