{ "uniprot_canonical_ac": "P10916-1", "uniprot_ac": "P10916", "uniprot_id": "MLRV_HUMAN", "mass": { "chemical_mass": 18789.0, "monoisotopic_mass": 18789.0 }, "refseq": { "ac": "NP_000423", "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1", "summary": "This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" }, "gene_names": [ { "name": "MYL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10916", "id": "P10916" }, { "name": "CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423", "id": "NP_000423" }, { "name": "MLC2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10916", "id": "P10916" }, { "name": "MYL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423", "id": "NP_000423" }, { "name": "hCG_40212", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10916", "id": "P10916" } ], "protein_names": [ { "name": "Myosin regulatory light chain 2, ventricular/cardiac muscle isoform", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10916" }, { "name": "Cardiac myosin light chain 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10916" }, { "name": "MLC-2s/v", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10916" }, { "name": "MLC-2v", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10916" }, { "name": "MLC-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10916" }, { "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10916" }, { "name": "Ventricular myosin light chain 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10916" }, { "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423", "id": "NP_000423" }, { "name": "myosin, light polypeptide 2, regulatory, cardiac, slow; slow cardiac myosin regulatory light chain 2; T160D myosin regulatory light chain 2; cardiac ventricular myosin light chain 2; regulatory light chain of myosin; RLC of myosin; cardiac myosin light chain 2; myosin, light chain 2, regulatory, cardiac, slow; S15D myosin regulatory light chain 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423", "id": "NP_000423" } ], "function": [ { "annotation": "An autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile Hypertrophic cardiomyopathy highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" }, { "database": "PubMed", "id": "32453731", "url": "https://glygen.org/publication/PubMed/32453731" } ] }, { "annotation": "Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916#function" }, { "database": "UniProtKB", "id": "P08733", "url": "https://www.uniprot.org/uniprot/P08733#function" }, { "database": "PubMed", "id": "32453731", "url": "https://glygen.org/publication/PubMed/32453731" }, { "database": "PubMed", "id": "23365102", "url": "https://glygen.org/publication/PubMed/23365102" } ] }, { "annotation": "FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" }, { "database": "PubMed", "id": "37488325", "url": "https://glygen.org/publication/PubMed/37488325" } ] }, { "annotation": "Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" }, { "database": "PubMed", "id": "35177471", "url": "https://glygen.org/publication/PubMed/35177471" } ] }, { "annotation": "Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" }, { "database": "PubMed", "id": "33784000", "url": "https://glygen.org/publication/PubMed/33784000" } ] }, { "annotation": "This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" } ] } ], "disease": [ { "disease_id": "DOID:0110316", "recommended_name": { "id": "DOID:0110316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110316", "name": "hypertrophic cardiomyopathy 10", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene." }, "synonyms": [ { "id": "DOID:0110316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110316", "name": "CMH10", "description": "" }, { "id": "DOID:0110316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110316", "name": "cardiomyopathy, familial hypertrophic, 10", "description": "" }, { "id": "MONDO:0012112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012112", "name": "hypertrophic cardiomyopathy 10", 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"https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "45.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "54.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "48.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "75.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111245" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "41.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000111245", "url": 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"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 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"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, 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"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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"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", 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"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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "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, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of 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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P10916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10916" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease 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"MFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD", "length": 147, "header": "tr|A0A590UJU8-1|A0A590UJU8_HUMAN Computationally mapped isoform of Myosin regulatory light chain 2, ventricular/cardiac muscle isoform OS=Homo sapiens OX=9606 GN=MYL2 PE=1 SV=1 CANONICAL=P10916-1" }, "locus": { "chromosome": "12", "start_pos": 110919139, "end_pos": 110911080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000663220.1", "url": "https://www.ensembl.org/id/ENST00000663220.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499568.1", "url": "https://www.ensembl.org/id/ENSP00000499568.1" } ] } }, { "isoform_ac": "A0A590UK07-1", "url": "", "sequence": { "sequence": "MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEVGAAIESSAWMEIPPTRENLLFVPYSQQGPFIRCLYPPNNPKFGLNGCVNF", "length": 82, "header": "tr|A0A590UK07-1|A0A590UK07_HUMAN Computationally mapped isoform of Myosin light chain 2 OS=Homo sapiens OX=9606 GN=MYL2 PE=1 SV=1 CANONICAL=P10916-1" }, "locus": { "chromosome": "12", "start_pos": 110920529, "end_pos": 110918951, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546404.1", "url": "https://www.ensembl.org/id/ENST00000546404.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499645.1", "url": "https://www.ensembl.org/id/ENSP00000499645.1" } ] } }, { "isoform_ac": "G3V1V8-1", "url": "", "sequence": { "sequence": "MAPKKAKKRAGGANSNVFSMFEQTQIQEFKELGVPECVFPTLGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD", "length": 152, "header": "tr|G3V1V8-1|G3V1V8_HUMAN Computationally mapped isoform of Myosin regulatory light chain 2, ventricular/cardiac muscle isoform OS=Homo sapiens OX=9606 GN=MYL2 PE=1 SV=1 CANONICAL=P10916-1" }, "locus": { "chromosome": "12", "start_pos": 110920529, "end_pos": 110911080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548438.1", "url": "https://www.ensembl.org/id/ENST00000548438.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000447154.1", "url": "https://www.ensembl.org/id/ENSP00000447154.1" } ] } }, { "isoform_ac": "P10916-1", "url": "", "sequence": { "sequence": "MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD", "length": 166, "header": "sp|P10916-1|MLRV_HUMAN Isoform 1 of Myosin regulatory light chain 2, ventricular/cardiac muscle isoform OS=Homo sapiens OX=9606 GN=MYL2 PE=1 SV=3 CANONICAL=P10916-1" }, "locus": { "chromosome": "12", "start_pos": 110920529, "end_pos": 110911080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000228841.15", "url": "https://www.ensembl.org/id/ENST00000228841.15" }, { "database": "Ensembl Peptide", "id": "ENSP00000228841.8", "url": "https://www.ensembl.org/id/ENSP00000228841.8" } ] } } ], "glycosylation": 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"evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" }, { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" }, { "database": "PubMed", "id": "25412762", "url": "https://glygen.org/publication/PubMed/25412762" }, { "database": "PubMed", "id": "20038585", "url": "https://glygen.org/publication/PubMed/20038585" }, { "database": "PubMed", "id": "20445002", "url": "https://glygen.org/publication/PubMed/20445002" } ], "site_lbl": "Ser15" }, { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "Q5VT25-1", "kinase_gene_name": "CDC42BPA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" }, { "database": "PubMed", "id": "9418861", "url": "https://glygen.org/publication/PubMed/9418861" } ], "site_lbl": "Ser19" }, { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" }, { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" }, { "database": "PubMed", "id": "17043135", "url": "https://glygen.org/publication/PubMed/17043135" }, { "database": "PubMed", "id": "18648664", "url": "https://glygen.org/publication/PubMed/18648664" }, { "database": "PubMed", "id": "27169750", "url": "https://glygen.org/publication/PubMed/27169750" }, { "database": "PubMed", "id": "28013338", "url": "https://glygen.org/publication/PubMed/28013338" }, { "database": "PubMed", "id": "33156861", "url": "https://glygen.org/publication/PubMed/33156861" } ], "site_lbl": "Ser19" }, { "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "site_lbl": "Thr52" } ], "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": "Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Szczesna D, Ghosh D, Li Q, Gomes AV, Guzman G, Arana C, Zhi G, Stull JT, Potter JD", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "11102452", "url": "https://glygen.org/publication/PubMed/11102452" } ] }, { "title": "Protein interactions with myocilin.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2002", "authors": "Wentz-Hunter Kelly, Ueda Jun, Yue Beatrice Y J T", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "11773029", "url": "https://glygen.org/publication/PubMed/11773029" } ] }, { "title": "Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.", "journal": "European journal of human genetics : EJHG", "date": "2002", "authors": "Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, Schulte HD, Aldashev AA, Mirrakhimov MM, Osterziel KJ", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "12404107", "url": "https://glygen.org/publication/PubMed/12404107" } ] }, { "title": "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.", "journal": "Circulation", "date": "2003", "authors": "Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "12707239", "url": "https://glygen.org/publication/PubMed/12707239" } ] }, { "title": "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.", "journal": "Journal of molecular and cellular cardiology", "date": "2003", "authors": "Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "12818575", "url": "https://glygen.org/publication/PubMed/12818575" } ] }, { "title": "Endosomes generate localized Rho-ROCK-MLC2-based contractile signals via Endo180 to promote adhesion disassembly.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Sturge J, Wienke D, Isacke CM", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "17043135", "url": "https://glygen.org/publication/PubMed/17043135" } ] }, { "title": "Deleted in liver cancer 1 (DLC1) negatively regulates Rho/ROCK/MLC pathway in hepatocellular carcinoma.", "journal": "PloS one", "date": "2008", "authors": "Wong CC, Wong CM, Ko FC, Chan LK, Ching YP, Yam JW, Ng IO", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "18648664", "url": "https://glygen.org/publication/PubMed/18648664" } ] }, { "title": "Cardiac myosin is a substrate for zipper-interacting protein kinase (ZIPK).", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Chang AN, Chen G, Gerard RD, Kamm KE, Stull JT", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" }, { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "20038585", "url": "https://glygen.org/publication/PubMed/20038585" } ] }, { "title": "A novel, in-solution separation of endogenous cardiac sarcomeric proteins and identification of distinct charged variants of regulatory light chain.", "journal": "Molecular & cellular proteomics : MCP", "date": "2010", "authors": "Scruggs SB, Reisdorph R, Armstrong ML, Warren CM, Reisdorph N, Solaro RJ, Buttrick PM", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" }, { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "20445002", "url": "https://glygen.org/publication/PubMed/20445002" } ] }, { "title": "Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB", "evidence": [ { "database": "O-GlcNAc Database", "id": "P10916", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10916" } ], "reference": [ { "type": "PubMed", "id": "23271734", "url": "https://glygen.org/publication/PubMed/23271734" } ] }, { "title": "Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.", "journal": "Brain : a journal of neurology", "date": "2013-01", "authors": "Weterman Marian A J, Barth Peter G, van Spaendonck-Zwarts Karin Y, Aronica Eleonora, Poll-The Bwee-Tien, Brouwer Oebele F, van Tintelen J Peter, Qahar Zohal, Bradley Edward J, de Wissel Marit, Salviati Leonardo, Angelini Corrado, van den Heuvel Lambertus, Thomasse Yolande E M, Backx Ad P, N\u00fcrnberg Gudrun, N\u00fcrnberg Peter, Baas Frank", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "23365102", "url": "https://glygen.org/publication/PubMed/23365102" } ] }, { "title": "PKM2 phosphorylates MLC2 and regulates cytokinesis of tumour cells.", "journal": "Nature communications", "date": "2014", "authors": "Jiang Y, Wang Y, Wang T, Hawke DH, Zheng Y, Li X, Zhou Q, Majumder S, Bi E, Liu DX, Huang S, Lu Z", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "25412762", "url": "https://glygen.org/publication/PubMed/25412762" } ] }, { "title": "Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Dalla Libera L, Hoffmann E, Floroff M, Jackowski G", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "2704627", "url": "https://glygen.org/publication/PubMed/2704627" } ] }, { "title": "Rho-kinase/myosin light chain kinase pathway plays a key role in the impairment of bile canaliculi dynamics induced by cholestatic drugs.", "journal": "Scientific reports", "date": "2016", "authors": "Sharanek A, Burban A, Burbank M, Le Guevel R, Li R, Guillouzo A, Guguen-Guillouzo C", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "27169750", "url": "https://glygen.org/publication/PubMed/27169750" } ] }, { "title": "Colon cancer cell-derived 12(S)-HETE induces the retraction of cancer-associated fibroblast via MLC2, RHO/ROCK and Ca(2+) signalling.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2017", "authors": "Stadler S, Nguyen CH, Schachner H, Milovanovic D, Holzner S, Brenner S, Eichsteininger J, Stadler M, Senfter D, Krenn L, Schmidt WM, Huttary N, Krieger S, Koperek O, Bago-Horvath Z, Brendel KA, Marian B, de Wever O, Mader RM, Giessrigl B, Jager W, Dolznig H, Krupitza G", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "28013338", "url": "https://glygen.org/publication/PubMed/28013338" } ] }, { "title": "Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.", "journal": "PLoS genetics", "date": "2020", "authors": "Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" }, { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" } ], "reference": [ { "type": "PubMed", "id": "32453731", "url": "https://glygen.org/publication/PubMed/32453731" } ] }, { "title": "Effects of stanniocalcin-1 overexpressing hepatocellular carcinoma cells on macrophage migration.", "journal": "PloS one", "date": "2020", "authors": "Leung CCT, Wong CKC", "evidence": [ { "database": "iPTMnet", "id": "P10916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10916" } ], "reference": [ { "type": "PubMed", "id": "33156861", "url": "https://glygen.org/publication/PubMed/33156861" } ] }, { "title": "Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer.", "journal": "Clinical and translational medicine", "date": "2021", "authors": "Chao F, Song Z, Wang S, Ma Z, Zhuo Z, Meng T, Xu G, Chen G", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" } ], "reference": [ { "type": "PubMed", "id": "33784000", "url": "https://glygen.org/publication/PubMed/33784000" } ] }, { "title": "Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2022", "authors": "Yuan CC, Kazmierczak K, Liang J, Ma W, Irving TC, Szczesna-Cordary D", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" } ], "reference": [ { "type": "PubMed", "id": "35177471", "url": "https://glygen.org/publication/PubMed/35177471" } ] }, { "title": "FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2.", "journal": "Angiogenesis", "date": "2023-11", "authors": "Tsuji-Tamura Kiyomi, Ogawa Minetaro", "evidence": [ { "database": "RefSeq", "id": "NP_000423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000423" } ], "reference": [ { "type": "PubMed", "id": "37488325", "url": "https://glygen.org/publication/PubMed/37488325" } ] }, { "title": "The major protein expression profile and two-dimensional protein database of human heart.", "journal": "Electrophoresis", "date": "1995", "authors": "Kovalyov L I, Shishkin S S, Efimochkin A S, Kovalyova M A, Ershova E S, Egorov T A, Musalyamov A K", "evidence": [ { "database": "UniProtKB", "id": "P10916", "url": "https://www.uniprot.org/uniprot/P10916" } ], "reference": [ { "type": "PubMed", "id": "7498159", "url": "https://glygen.org/publication/PubMed/7498159" } ] }, { "title": "Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain.", 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