{ "uniprot_canonical_ac": "P04179-1", "uniprot_ac": "P04179", "uniprot_id": "SODM_HUMAN", "mass": { "chemical_mass": 24750.0, "monoisotopic_mass": 24750.0 }, "refseq": { "ac": "NP_001309744", "name": "superoxide dismutase [Mn], mitochondrial isoform C precursor", "summary": "This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744" }, "gene_names": [ { "name": "SOD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04179", "id": "P04179" }, { "name": "GC1; GClnc1; IPO-B; IPOB; Mn-SOD; MNSOD; MVCD6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744", "id": "NP_001309744" }, { "name": "SOD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744", "id": "NP_001309744" }, { "name": "hCG_34035", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04179", "id": "P04179" } ], "protein_names": [ { "name": "Superoxide dismutase [Mn], mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04179" }, { "name": "1.15.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04179" }, { "name": "mangano-superoxide dismutase; Mn superoxide dismutase; indophenoloxidase B; manganese-containing superoxide dismutase; superoxide dismutase 2, mitochondrial; epididymis secretory sperm binding protein; gastric cancer-associated lncRNA 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744", "id": "NP_001309744" }, { "name": "superoxide dismutase [Mn], mitochondrial isoform C precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744", "id": "NP_001309744" } ], "function": [ { "annotation": "Destroys radicals which are normally produced within the cells and which are toxic to biological systems.", "evidence": [ { "database": "UniProtKB", "id": "F5H3C5", "url": "https://www.uniprot.org/uniprot/F5H3C5#function" }, { "database": "UniProtKB", "id": "RU000414", "url": "https://www.uniprot.org/uniprot/RU000414#function" }, { "database": "UniProtKB", "id": "G8JLJ2", "url": "https://www.uniprot.org/uniprot/G8JLJ2#function" }, { "database": "UniProtKB", "id": "F5GYZ5", "url": "https://www.uniprot.org/uniprot/F5GYZ5#function" }, { "database": "UniProtKB", "id": "F5H4R2", "url": "https://www.uniprot.org/uniprot/F5H4R2#function" } ] }, { "annotation": "Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.", "evidence": [ { "database": "UniProtKB", "id": "P04179", "url": "https://www.uniprot.org/uniprot/P04179#function" }, { "database": "PubMed", "id": "10334867", "url": "https://glygen.org/publication/PubMed/10334867" }, { "database": "UniProtKB", "id": "F5H3C5", "url": "https://www.uniprot.org/uniprot/F5H3C5#function" }, { "database": "UniProtKB", "id": "ARBA00002170", "url": "https://www.uniprot.org/uniprot/ARBA00002170#function" }, { "database": "UniProtKB", "id": "G8JLJ2", "url": "https://www.uniprot.org/uniprot/G8JLJ2#function" }, { "database": "UniProtKB", "id": "F5GXZ9", "url": "https://www.uniprot.org/uniprot/F5GXZ9#function" }, { "database": "UniProtKB", "id": "G5E9P6", "url": "https://www.uniprot.org/uniprot/G5E9P6#function" }, { "database": "UniProtKB", "id": "F5GYZ5", "url": "https://www.uniprot.org/uniprot/F5GYZ5#function" }, { "database": "UniProtKB", "id": "F5H4R2", "url": "https://www.uniprot.org/uniprot/F5H4R2#function" } ] }, { "annotation": "Overexpression of manganese superoxide dismutase mitigates ACL injury-induced muscle atrophy, weakness and oxidative damage.", "evidence": [ { "database": "RefSeq", "id": "NP_001309744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744" }, { "database": "PubMed", "id": "38154571", "url": "https://glygen.org/publication/PubMed/38154571" } ] }, { "annotation": "The impact of the association between Val16Ala-SOD2 SNP and SOD2 immunohistochemistry expression in the prognosis of patients with esophageal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001309744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744" }, { "database": "PubMed", "id": "38039740", "url": "https://glygen.org/publication/PubMed/38039740" } ] }, { "annotation": "This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001309744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744" } ] } ], "disease": [ { "disease_id": "MONDO:0012970", "recommended_name": { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility to, 6", "description": "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." }, "synonyms": [ { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "SOD2 microvascular complications of diabetes, susceptibility", "description": "" }, { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "microvascular complications of diabetes 6", "description": "" }, { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility caused by mutation in SOD2", "description": "" }, { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "microvascular complications of diabetes, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "MVCD6", "description": "" }, { "id": "MONDO:0012970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012970", "name": "nephropathy, diabetic, susceptibility to", "description": "" }, { "id": "MIM:612634", "resource": "MIM", "url": "https://www.omim.org/entry/612634", "name": "Microvascular complications of diabetes 6", "description": "Microvascular complications of diabetes 6" } ], "evidence": [ { "id": "612634", "database": "MIM", "url": "https://www.omim.org/entry/612634" } ] } ], "snv": [ { "evidence": [ { "id": "P04179", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04179" } ], "glycoeffect": [], "start_pos": 16, "end_pos": 16, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (15).", "chr_id": "6", "chr_pos": "159692840", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V16", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, 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lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1331268278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331268278" }, { "id": "rs1331268278", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331268278" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 208, "end_pos": 208, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVI->NVS).", "chr_id": "6", "chr_pos": "159682539", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04179", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04179" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 77, "end_pos": 77, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "6", "chr_pos": "159688240", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D77", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "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", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "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", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04179", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04179" } ], "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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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04179", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04179" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"R-HSA-8862803", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8862803", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8950505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8950505", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001309744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309744", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20696", "url": "https://www.rhea-db.org/rhea/20696", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F5GXZ9", "url": "https://www.uniprot.org/uniprot/F5GXZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXZ9-1", "url": "https://www.uniprot.org/uniprot/F5GXZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYZ5", "url": "https://www.uniprot.org/uniprot/F5GYZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYZ5-1", "url": "https://www.uniprot.org/uniprot/F5GYZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3C5", "url": "https://www.uniprot.org/uniprot/F5H3C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3C5-1", "url": "https://www.uniprot.org/uniprot/F5H3C5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H4R2", "url": "https://www.uniprot.org/uniprot/F5H4R2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H4R2-1", "url": "https://www.uniprot.org/uniprot/F5H4R2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E9P6", "url": "https://www.uniprot.org/uniprot/G5E9P6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E9P6-1", "url": "https://www.uniprot.org/uniprot/G5E9P6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G8JLJ2", "url": "https://www.uniprot.org/uniprot/G8JLJ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G8JLJ2-1", "url": "https://www.uniprot.org/uniprot/G8JLJ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04179", "url": "https://www.uniprot.org/uniprot/P04179", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04179-1", "url": "https://www.uniprot.org/uniprot/P04179-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04179-2", "url": "https://www.uniprot.org/uniprot/P04179-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04179-3", "url": "https://www.uniprot.org/uniprot/P04179-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04179-4", "url": "https://www.uniprot.org/uniprot/P04179-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK", "length": 222, "header": "sp|P04179-1|SODM_HUMAN Isoform 1 of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=3 CANONICAL=P04179-1" }, "isoforms": [ { "isoform_ac": "F5GXZ9-1", "url": "", "sequence": { "sequence": "MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGRFQAERREAVPGRGDPREPGPIRTGLSVEENSLRICTGSEFSRRCYSPDSSSACTEVQWWWSYQS", "length": 141, "header": "tr|F5GXZ9-1|F5GXZ9_HUMAN Computationally mapped isoform of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=1 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159693167, "end_pos": 159688176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546260.5", "url": "https://www.ensembl.org/id/ENST00000546260.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440131.1", "url": "https://www.ensembl.org/id/ENSP00000440131.1" } ] } }, { "isoform_ac": "F5GYZ5-1", "url": "", "sequence": { "sequence": "MFAFWPTHRRVAFQAWPQSLARRRTPPGEESTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQ", "length": 190, "header": "tr|F5GYZ5-1|F5GYZ5_HUMAN Computationally mapped isoform of Superoxide dismutase OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=1 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159727357, "end_pos": 159684876, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545162.5", "url": "https://www.ensembl.org/id/ENST00000545162.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441362.1", "url": "https://www.ensembl.org/id/ENSP00000441362.1" } ] } }, { "isoform_ac": "F5H3C5-1", "url": "", "sequence": { "sequence": "MQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERG", "length": 111, "header": "tr|F5H3C5-1|F5H3C5_HUMAN Computationally mapped isoform of Superoxide dismutase OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=1 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159692748, "end_pos": 159684906, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537657.5", "url": "https://www.ensembl.org/id/ENST00000537657.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439191.1", "url": "https://www.ensembl.org/id/ENSP00000439191.1" } ] } }, { "isoform_ac": "F5H4R2-1", "url": "", "sequence": { "sequence": "MLPRVGGPGATSRERPWAASRGRLLLAEAHLTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQ", "length": 183, "header": "tr|F5H4R2-1|F5H4R2_HUMAN Computationally mapped isoform of Superoxide dismutase OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=1 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159726943, "end_pos": 159684897, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535561.5", "url": "https://www.ensembl.org/id/ENST00000535561.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445015.1", "url": "https://www.ensembl.org/id/ENSP00000445015.1" } ] } }, { "isoform_ac": "G5E9P6-1", "url": "", "sequence": { "sequence": "MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGRFQAERREAVPGRGDPREPGPIRTGLSVEENSLRICTGSEFSRHDSLSFKHMVYLIVEGVPRWV", "length": 140, "header": "tr|G5E9P6-1|G5E9P6_HUMAN Computationally mapped isoform of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=1 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159693167, "end_pos": 159692467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452684.2", "url": "https://www.ensembl.org/id/ENST00000452684.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000406713.2", "url": "https://www.ensembl.org/id/ENSP00000406713.2" } ] } }, { "isoform_ac": "G8JLJ2-1", "url": "", "sequence": { "sequence": "MQLHHSKHHAAYVNNLNVTEEKYQEALAKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSG", "length": 61, "header": "tr|G8JLJ2-1|G8JLJ2_HUMAN Computationally mapped isoform of Superoxide dismutase OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=1 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159692748, "end_pos": 159684939, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401980.3", "url": "https://www.ensembl.org/id/ENST00000401980.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000384196.3", "url": "https://www.ensembl.org/id/ENSP00000384196.3" } ] } }, { "isoform_ac": "P04179-1", "url": "", "sequence": { "sequence": "MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK", "length": 222, "header": "sp|P04179-1|SODM_HUMAN Isoform 1 of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=3 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159693167, "end_pos": 159682496, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367055.8", "url": "https://www.ensembl.org/id/ENST00000367055.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000356022.4", "url": "https://www.ensembl.org/id/ENSP00000356022.4" } ] } }, { "isoform_ac": "P04179-2", "url": "", "sequence": { "sequence": "MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK", "length": 183, "header": "sp|P04179-2|SODM_HUMAN Isoform 2 of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=3 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159693167, "end_pos": 159682496, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337404.8", "url": "https://www.ensembl.org/id/ENST00000337404.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000337127.4", "url": "https://www.ensembl.org/id/ENSP00000337127.4" } ] } }, { "isoform_ac": "P04179-3", "url": "", "sequence": { "sequence": "MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK", "length": 162, "header": "sp|P04179-3|SODM_HUMAN Isoform 3 of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=3 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159693167, "end_pos": 159682496, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444946.6", "url": "https://www.ensembl.org/id/ENST00000444946.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000404804.2", "url": "https://www.ensembl.org/id/ENSP00000404804.2" } ] } }, { "isoform_ac": "P04179-4", "url": "", "sequence": { "sequence": "MQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK", "length": 176, "header": "sp|P04179-4|SODM_HUMAN Isoform 4 of Superoxide dismutase [Mn], mitochondrial OS=Homo sapiens OX=9606 GN=SOD2 PE=1 SV=3 CANONICAL=P04179-1" }, "locus": { "chromosome": "6", "start_pos": 159692748, "end_pos": 159682496, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546087.5", "url": "https://www.ensembl.org/id/ENST00000546087.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442920.1", "url": "https://www.ensembl.org/id/ENSP00000442920.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 79, "start_aa": "Thr", "end_pos": 79, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr79", "evidence": [ { "id": "P04179", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04179" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "38007588", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38007588" } ] } ], "phosphorylation": [ { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04179", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04179" }, { "database": "PubMed", "id": "23243068", "url": "https://glygen.org/publication/PubMed/23243068" }, { "database": "PubMed", "id": "25578653", "url": "https://glygen.org/publication/PubMed/25578653" } ], "site_lbl": "Ser106" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "NADPH oxidase: an update.", "journal": "Blood", "date": "1999", "authors": "Babior BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10029572", "url": "https://glygen.org/publication/PubMed/10029572" } ] }, { "title": "Akt promotes cell survival by phosphorylating and inhibiting a Forkhead transcription factor.", "journal": "Cell", "date": "1999", "authors": "Brunet A, Bonni A, Zigmond MJ, Lin MZ, Juo P, Hu LS, Anderson MJ, Arden KC, Blenis J, Greenberg ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017" } ], "reference": [ { "type": "PubMed", "id": "10102273", "url": "https://glygen.org/publication/PubMed/10102273" } ] }, { "title": "Direct control of the Forkhead transcription factor AFX by protein kinase B.", "journal": "Nature", "date": "1999", "authors": "Kops GJ, de Ruiter ND, De Vries-Smits AM, Powell DR, Bos JL, Burgering BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017" } ], "reference": [ { "type": "PubMed", "id": "10217147", "url": "https://glygen.org/publication/PubMed/10217147" } ] }, { "title": "Tyrosine modifications and inactivation of active site manganese superoxide dismutase mutant (Y34F) by peroxynitrite.", "journal": "Archives of biochemistry and biophysics", "date": "1999", "authors": "MacMillan-Crow LA, Thompson JA", "evidence": [ { "database": "UniProtKB", "id": "P04179", "url": "https://www.uniprot.org/uniprot/P04179" } ], "reference": [ { "type": "PubMed", "id": "10334867", "url": "https://glygen.org/publication/PubMed/10334867" } ] }, { "title": "Negative regulation of the forkhead transcription factor FKHR by Akt.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Tang ED, Nunez G, Barr FG, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017" } ], "reference": [ { "type": "PubMed", "id": "10358014", "url": "https://glygen.org/publication/PubMed/10358014" } ] }, { "title": "Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1.", "journal": "Cell", "date": "1999", "authors": "Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10412986", "url": "https://glygen.org/publication/PubMed/10412986" } ] }, { "title": "Conservation of an insulin response unit between mouse and human glucose-6-phosphatase catalytic subunit gene promoters: transcription factor FKHR binds the insulin response sequence.", "journal": "Diabetes", "date": "1999", "authors": "Ayala JE, Streeper RS, Desgrosellier JS, Durham SK, Suwanichkul A, Svitek CA, Goldman JK, Barr FG, Powell DR, O'Brien RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9615017", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615017" } ], "reference": [ { "type": "PubMed", "id": "10480625", "url": "https://glygen.org/publication/PubMed/10480625" } ] }, { "title": "Characterization of human and murine PMP20 peroxisomal proteins that exhibit antioxidant activity in vitro.", "journal": "The Journal of 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Data from mouse liver indicate that respiratory complex I leaks superoxide into the matrix and respiratory complex III leaks superoxide into both the matrix and the intermembrane space (Muller et al. 2004). Because of its negative charge superoxide is unable to cross membranes, however hydrogen peroxide, a product of SOD2, is released from mitochondria to the cytosol in proportion to the proton potential (inferred from rat heart mitochondria in Boveris et al. 2006, Korshunov et al. 1997).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-3299683" ], "output_participant_list": [ "R-ALL-113533" ], "enzyme_list": [ "P04179-1" ], "evidence": [ { "id": "R-HSA-3299680", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299680" } ] }, { "id": "R-HSA-5688289", "name": "SIRT3 deacetylates ACCS2, GLUD, IDH2, SOD2", "equation": "", "summary": "Sirtuin 3 (SIRT3) is the most extensively studied of the mitochondrial sirtuins. It deacetylates and thereby activates Acetyl-CoA synthetase 2 (ACCS2), Glutamate dehydrogenase (GLUD), Isocitrate dehydrogenase 2 (IDH2) and Superoxide dismutase 2 (SOD2) (Schwer et al. 2006, Lombard et al. 2007, Schlicker et al. 2008, Tao et al. 2010).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [ "R-ALL-5688337" ], "enzyme_list": [ "P48735-1", "P49448-1", "Q9NR19-1", "Q9NTG7-1", "P04179-1", "P00367-1" ], "evidence": [ { "id": "R-HSA-5688289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5688289" } ] }, { "id": "R-HSA-8870703", "name": "SOD2 (MnSOD) gene expression", "equation": "", "summary": "Transcription of the SOD2 (MnSOD) gene, encoding mitochondrial superoxide dismutase, is stimulated by FOXO3 downstream of aberrantly activated CDK5 (Shi et al. 2016).", "cellular_location": "mitochondrial matrix, nucleoplasm", "input_participant_list": [ "R-HSA-8870704" ], "output_participant_list": [ "R-HSA-3299687" ], "enzyme_list": [ "P04179-1" ], "evidence": [ { "id": "R-HSA-8870703", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8870703" } ] }, { "id": "R-HSA-9617833", "name": "SOD2 gene expression is stimulated by FOXO4, FOXO3 and FOXO1", "equation": "", "summary": "FOXO3 directly stimulates transcription of the SOD2 gene, encoding mitochondrial manganese-dependent superoxide dismutase (Kops et al. 2002). FOXO4 and ATXN3, which form a complex, also directly stimulate SOD2 gene transcription (Araujo et al. 2011). Acetylation of FOXO4 by EP300 (p300) or CREBBP (CBP) in response to oxidative stress does not affect FOXO4-mediated induction of SOD2 gene transcription (Dansen et al. 2009). FOXO1 positively regulates SOD2 transcription (Hori et al. 2013, Guan et al. 2016), but direct binding of FOXO1 to the SOD2 gene promoter has not been demonstrated.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04179-1", "P54252-2" ], "evidence": [ { "id": "R-HSA-9617833", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617833" } ] }, { "id": "R-HSA-9617941", "name": "Expression of superoxide dismutase 2", "equation": "", "summary": "Experiments using human cord blood CD4(+) T cells show 22 protein spots and 20 protein spots, upregulated and downregulated proteins respectively, following Interleukin-12 stimulation (Rosengren et.al, 2005). 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