{ "uniprot_canonical_ac": "P13533-1", "uniprot_ac": "P13533", "uniprot_id": "MYH6_HUMAN", "mass": { "chemical_mass": 223735.0, "monoisotopic_mass": 223735.0 }, "refseq": { "ac": "NP_002462", "name": "myosin-6", "summary": "Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" }, "gene_names": [ { "name": "MYH6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13533", "id": "P13533" }, { "name": "MYH6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462", "id": "NP_002462" }, { "name": "MYHCA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13533", "id": "P13533" }, { "name": "alpha-MHC; ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462", "id": "NP_002462" } ], "protein_names": [ { "name": "Myosin-6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13533" }, { "name": "MyHC-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13533" }, { "name": "Myosin heavy chain 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13533" }, { "name": "Myosin heavy chain, cardiac muscle alpha isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13533" }, { "name": "myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1); myHC-alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462", "id": "NP_002462" }, { "name": "myosin-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462", "id": "NP_002462" } ], "function": [ { "annotation": "Alpha-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" }, { "database": "PubMed", "id": "37443257", "url": "https://glygen.org/publication/PubMed/37443257" } ] }, { "annotation": "Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" } ] }, { "annotation": "Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" }, { "database": "PubMed", "id": "36209093", "url": "https://glygen.org/publication/PubMed/36209093" } ] }, { "annotation": "Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" }, { "database": "PubMed", "id": "34697898", "url": "https://glygen.org/publication/PubMed/34697898" } ] }, { "annotation": "Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" }, { "database": "PubMed", "id": "36694223", "url": "https://glygen.org/publication/PubMed/36694223" } ] }, { "annotation": "Muscle contraction.", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533#function" } ] } ], "disease": [ { "disease_id": "DOID:0110108", "recommended_name": { "id": "DOID:0110108", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110108", "name": "atrial heart septal defect 3", "description": "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110108", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110108", "name": "ASD3", "description": "" }, { "id": "DOID:0110108", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110108", "name": "atrial septal defect 3", "description": "" }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "atrial septal defect 3", "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "ASD3", "description": "" }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "MYH6 atrial heart septal defect", "description": "" }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "atrial heart septal defect caused by mutation in MYH6", "description": "" }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "atrial heart septal defect type 3", "description": "" }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "atrial septal defect 3", "description": "" }, { "id": "MONDO:0013567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013567", "name": "atrial septal defect type 3", "description": "" }, { "id": "MIM:614089", "resource": "MIM", "url": "https://www.omim.org/entry/614089", "name": "Atrial septal defect 3", "description": "Atrial septal defect 3" } ], "evidence": [ { "id": "614089", "database": "MIM", "url": "https://www.omim.org/entry/614089" } ] }, { "disease_id": "DOID:0110320", "recommended_name": { "id": "DOID:0110320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110320", "name": "hypertrophic cardiomyopathy 14", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene." }, "synonyms": [ { "id": "DOID:0110320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110320", "name": "CMH14", "description": "" }, { "id": "DOID:0110320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110320", "name": "cardiomyopathy familial hypertrophic 14", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "hypertrophic cardiomyopathy 14", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "CMH14", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "MYH6 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "cardiomyopathy familial hypertrophic 14", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "cardiomyopathy, familial hypertrophic, type 14", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "cardiomyopathy, hypertrophic, 14", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "hypertrophic cardiomyopathy caused by mutation in MYH6", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "hypertrophic cardiomyopathy type 14", "description": "" }, { "id": "MONDO:0013197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013197", "name": "cardiomyopathy, familial hypertrophic, 14", "description": "" }, { "id": "MIM:613251", "resource": "MIM", "url": "https://www.omim.org/entry/613251", "name": "Cardiomyopathy, familial hypertrophic, 14", "description": "Cardiomyopathy, familial hypertrophic, 14" } ], "evidence": [ { "id": "613251", "database": "MIM", "url": "https://www.omim.org/entry/613251" } ] }, { "disease_id": "DOID:0110453", "recommended_name": { "id": "DOID:0110453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110453", "name": "dilated cardiomyopathy 1EE", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2." }, "synonyms": [ { "id": "DOID:0110453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110453", "name": "CMD1EE", "description": "" }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "dilated cardiomyopathy 1EE", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "CMD1EE", "description": "" }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "MYH6 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "cardiomyopathy, dilated, type 1Ee", "description": "" }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "dilated cardiomyopathy type 1EE", "description": "" }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH6", "description": "" }, { "id": "MONDO:0013198", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013198", "name": "cardiomyopathy, dilated, 1EE", "description": "" }, { "id": "MIM:613252", "resource": "MIM", "url": "https://www.omim.org/entry/613252", "name": "Cardiomyopathy, dilated, 1EE", "description": "Cardiomyopathy, dilated, 1EE" } ], "evidence": [ { "id": "613252", "database": "MIM", "url": "https://www.omim.org/entry/613252" } ] }, { "disease_id": "MONDO:0013568", "recommended_name": { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "sick sinus syndrome 3, susceptibility to", "description": "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." }, "synonyms": [ { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "MYH6 familial sick sinus syndrome", "description": "" }, { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "familial sick sinus syndrome caused by mutation in MYH6", "description": "" }, { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "sick sinus syndrome 3", "description": "" }, { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "sick sinus syndrome 3, susceptibility to", "description": "" }, { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "SSS3", "description": "" }, { "id": "MONDO:0013568", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013568", "name": "susceptibility to sick sinus syndrome 3", "description": "" }, { "id": "MIM:614090", "resource": "MIM", "url": "https://www.omim.org/entry/614090", "name": "Sick sinus syndrome 3", "description": "Sick sinus syndrome 3" } ], "evidence": [ { "id": "614090", "database": "MIM", "url": "https://www.omim.org/entry/614090" } ] } ], "snv": [ { "evidence": [ { "id": "P13533", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13533" } ], "glycoeffect": [], "start_pos": 1047, "end_pos": 1047, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "23393024", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1047", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", 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"https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P13533", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13533" } ], "glycoeffect": [], "start_pos": 725, "end_pos": 725, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "23396812", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R725", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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 prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"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", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "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" } ] }, { "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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"MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKDPLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLNDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVNSLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANEYRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQLEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQSEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDKKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGAKQKMHDEE", "length": 1939, "header": "sp|P13533-1|MYH6_HUMAN Isoform 1 of Myosin-6 OS=Homo sapiens OX=9606 GN=MYH6 PE=1 SV=5 CANONICAL=P13533-1" }, "isoforms": [ { "isoform_ac": "P13533-1", "url": "", "sequence": { "sequence": "MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKDPLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLNDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVNSLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANEYRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQLEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQSEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDKKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGAKQKMHDEE", "length": 1939, "header": "sp|P13533-1|MYH6_HUMAN Isoform 1 of Myosin-6 OS=Homo sapiens OX=9606 GN=MYH6 PE=1 SV=5 CANONICAL=P13533-1" }, "locus": { "chromosome": "14", "start_pos": 23407223, "end_pos": 23382043, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405093.9", "url": "https://www.ensembl.org/id/ENST00000405093.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000386041.3", "url": "https://www.ensembl.org/id/ENSP00000386041.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P13533", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13533" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 1139, "end_pos": 1139, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Ser1139" }, { "start_pos": 1261, "end_pos": 1261, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Tyr1261" }, { "start_pos": 1271, "end_pos": 1271, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Ser1271" }, { "start_pos": 1277, "end_pos": 1277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Thr1277" }, { "start_pos": 1284, "end_pos": 1284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Thr1284" }, { "start_pos": 1309, "end_pos": 1309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Ser1309" }, { "start_pos": 1310, "end_pos": 1310, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Tyr1310" }, { "start_pos": 1311, "end_pos": 1311, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Thr1311" }, { "start_pos": 1512, "end_pos": 1512, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Ser1512" }, { "start_pos": 1515, "end_pos": 1515, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Thr1515" }, { "start_pos": 379, "end_pos": 379, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Thr379" }, { "start_pos": 417, "end_pos": 417, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "site_lbl": "Ser417" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Regulation of contraction in striated muscle.", "journal": "Physiological reviews", "date": "2000", "authors": "Gordon AM, Homsher E, Regnier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522" } ], "reference": [ { "type": "PubMed", "id": "10747208", "url": "https://glygen.org/publication/PubMed/10747208" } ] }, { "title": "Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.", "journal": "Circulation", "date": "2002", "authors": "Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "11815426", "url": "https://glygen.org/publication/PubMed/11815426" } ] }, { "title": "Mutation in myosin heavy chain 6 causes atrial septal defect.", "journal": "Nature genetics", "date": "2005", "authors": "Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "15735645", "url": "https://glygen.org/publication/PubMed/15735645" } ] }, { "title": "Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.", "journal": "Circulation", "date": "2005", "authors": "Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "15998695", "url": "https://glygen.org/publication/PubMed/15998695" } ] }, { "title": "Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences.", "journal": "Am. J. Med. Genet.", "date": "1991", "authors": "Matsuoka R, Beisel K W, Furutani M, Arai S, Takao A", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "1776652", "url": "https://glygen.org/publication/PubMed/1776652" } ] }, { "title": "A rare variant in MYH6 is associated with high risk of sick sinus syndrome.", "journal": "Nature genetics", "date": "2011", "authors": "Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "21378987", "url": "https://glygen.org/publication/PubMed/21378987" } ] }, { "title": "Characterization of human cardiac myosin heavy chain genes.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Yamauchi-Takihara K, Sole M J, Liew J, Ing D, Liew C C", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "2726733", "url": "https://glygen.org/publication/PubMed/2726733" } ] }, { "title": "Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium.", "journal": "J. Clin. Invest.", "date": "1988", "authors": "Kurabayashi M, Tsuchimochi H, Komuro I, Takaku F, Yazaki Y", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "2969919", "url": "https://glygen.org/publication/PubMed/2969919" } ] }, { "title": "Human cardiac myosin heavy chain genes and their linkage in the genome.", "journal": "Nucleic Acids Res.", "date": "1987", "authors": "Saez L J, Gianola K M, McNally E M, Feghali R, Eddy R, Shows T B, Leinwand L A", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "3037493", "url": "https://glygen.org/publication/PubMed/3037493" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13533", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13533" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.", "journal": "Journal of cellular and molecular medicine", "date": "2021", "authors": "Chen JH, Wang LL, Tao L, Qi B, Wang Y, Guo YJ, Miao L", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" } ], "reference": [ { "type": "PubMed", "id": "34697898", "url": "https://glygen.org/publication/PubMed/34697898" } ] }, { "title": "Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.", "journal": "BMC medical genomics", "date": "2022-10-08", "authors": "Zuo Ji-Yang, Chen Huan-Xin, Liu Zhi-Gang, Yang Qin, He Guo-Wei", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" } ], "reference": [ { "type": "PubMed", "id": "36209093", "url": "https://glygen.org/publication/PubMed/36209093" } ] }, { "title": "Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.", "journal": "Hereditas", "date": "2023-01-25", "authors": "Xiao Yu, Huang Yi, Jiang Jianping, Chen Yan, Wei Changyuan", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" } ], "reference": [ { "type": "PubMed", "id": "36694223", "url": "https://glygen.org/publication/PubMed/36694223" } ] }, { "title": "\u03b1-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.", "journal": "Cell research", "date": "2023-09", "authors": "Zhang Naijin, Zhang Ying, Xu Jiaqi, Wang Pengbo, Wu Boquan, Lu Saien, Lu Xinxin, You Shilong, Huang Xinyue, Li Mohan, Zou Yuanming, Liu Mengke, Zhao Yuanhui, Sun Guozhe, Wang Wenbin, Geng Danxi, Liu Jingwei, Cao Liu, Sun Yingxian", "evidence": [ { "database": "RefSeq", "id": "NP_002462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002462" } ], "reference": [ { "type": "PubMed", "id": "37443257", "url": "https://glygen.org/publication/PubMed/37443257" } ] }, { "title": "Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6).", "journal": "Genomics", "date": "1993", "authors": "Epp T A, Dixon I M, Wang H Y, Sole M J, Liew C C", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "reference": [ { "type": "PubMed", "id": "8307559", "url": "https://glygen.org/publication/PubMed/8307559" } ] } ], "pathway": [ { "id": "R-HSA-390522", "name": "Striated Muscle Contraction", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "resource": "Reactome", "description": "Striated Muscle Contraction" } ], "orthologs": [ { "uniprot_canonical_ac": "P02563-1", "protein_name": "Myosin-6", "gene_name": "Myh6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTDAQMADFGAARYLRKSEKERLEAQTRPFDIRTECFVPDDKEEYVKAKIVSREGGKVTAETENGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRSKKDNPNANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVSVASIDDSEELLATDSAFDVLGFTAEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQVYYSIGALAKSVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWEFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNVKGKQEAHFSLVHYAGTVDYNILGWLEKNKDPLNETVVGLYQKSSLKLMATLFSTYASADTGDSGKGKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSGKGAEKLLGSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQARGQLMRIEFKKMVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAETEKEMANMKEEFGRVKDALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMTERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDISQQNSKIEDEQALALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSDLTRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSHMEQIIKAKANLEKVSRTLEDQANEYRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALIWQLTRGKLSYTQQMEDLKRQLEEEGKAKNALAHALQSARHDCDLLREQYEEEMEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGEGGKNVHELEKIRKQLEVEKLELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEGDLNEMEIQLSQANRIASEAQKHLKNAQAHLKDTQLQLDDAVRANDDLKENIAIVERRNTLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDKKNLVRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGAKQKMHDEE", "length": 1938 }, "evidence": [ { "id": "45917248", "url": "http://www.informatics.jax.org/homology/45917248", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q02566-1", "protein_name": "Myosin-6", "gene_name": "Myh6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"length": 1938 }, "evidence": [ { "id": "45917248", "url": "http://www.informatics.jax.org/homology/45917248", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "regulation of heart growth", "id": "GO:0060420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060420", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "regulation of ATP-dependent activity", "id": "GO:0043462", "url": 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"url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "myosin II complex", "id": "GO:0016460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016460", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": "https://www.uniprot.org/uniprot/P13533" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P13533", "url": 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