{ "uniprot_canonical_ac": "O15273-1", "uniprot_ac": "O15273", "uniprot_id": "TELT_HUMAN", "mass": { "chemical_mass": 19052.0, "monoisotopic_mass": 19052.0 }, "refseq": { "ac": "NP_003664", "name": "telethonin", "summary": "Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" }, "gene_names": [ { "name": "TCAP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15273", "id": "O15273" }, { "name": "CMD1N; CMH25; LGMD2G; LGMDR7; T-cap; TELE; telethonin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664", "id": "NP_003664" }, { "name": "TCAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664", "id": "NP_003664" } ], "protein_names": [ { "name": "Telethonin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15273" }, { "name": "Titin cap protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15273" }, { "name": "limb girdle muscular dystrophy 2G (autosomal recessive); 19 kDa sarcomeric protein; titin cap protein; teneurin C-terminal associated peptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664", "id": "NP_003664" }, { "name": "telethonin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664", "id": "NP_003664" } ], "function": [ { "annotation": "Distal myopathy due to TCAP variants in four unrelated Chinese patients.", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" }, { "database": "PubMed", "id": "32761539", "url": "https://glygen.org/publication/PubMed/32761539" } ] }, { "annotation": "Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273#function" } ] }, { "annotation": "Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" } ] }, { "annotation": "TCAP gene is not a common cause of cardiomyopathy in Iranian patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" }, { "database": "PubMed", "id": "37752589", "url": "https://glygen.org/publication/PubMed/37752589" } ] }, { "annotation": "The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" }, { "database": "PubMed", "id": "37216648", "url": "https://glygen.org/publication/PubMed/37216648" } ] } ], "disease": [ { "disease_id": "DOID:0110281", "recommended_name": { "id": "DOID:0110281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110281", "name": "autosomal recessive limb-girdle muscular dystrophy type 2G", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)." }, "synonyms": [ { "id": "DOID:0110281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110281", "name": "LGMD2G", "description": "" }, { "id": "DOID:0110281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110281", "name": "muscular dystrophy, limb-girdle, type 2G", "description": "" }, { "id": "DOID:0110281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110281", "name": "limb-girdle muscular dystrophy due to telethonin deficiency", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "autosomal recessive limb-girdle muscular dystrophy type 2G", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "LGMD2G", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "TCAP autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "Tcap autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "limb-girdle muscular dystrophy due to telethonin deficiency", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "muscular dystrophy, limb-girdle, autosomal recessive 7", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "muscular dystrophy, limb-girdle, type 2G", "description": "" }, { "id": "MONDO:0011170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011170", "name": "limb-girdle muscular dystrophy, type 2G", "description": "" }, { "id": "MIM:601954", "resource": "MIM", "url": "https://www.omim.org/entry/601954", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 7", "description": "Muscular dystrophy, limb-girdle, autosomal recessive 7" } ], "evidence": [ { "id": "601954", "database": "MIM", "url": "https://www.omim.org/entry/601954" } ] }, { "disease_id": "DOID:0110328", "recommended_name": { "id": "DOID:0110328", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110328", "name": "hypertrophic cardiomyopathy 25", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12." }, "synonyms": [ { "id": "DOID:0110328", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110328", "name": "CMH25", "description": "" }, { "id": "DOID:0110328", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110328", "name": "cardiomyopathy familial hypertrophic 25", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "hypertrophic cardiomyopathy 25", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "CMH25", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "TCAP hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "Tcap hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "cardiomyopathy familial hypertrophic 25", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "cardiomyopathy, familial hypertrophic, type 25", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "cardiomyopathy, hypertrophic, 25", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "hypertrophic cardiomyopathy caused by mutation in TCAP", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "hypertrophic cardiomyopathy type 25", "description": "" }, { "id": "MONDO:0011843", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011843", "name": "cardiomyopathy, familial hypertrophic, 25", "description": "" }, { "id": "MIM:607487", "resource": "MIM", "url": "https://www.omim.org/entry/607487", "name": "Cardiomyopathy, familial hypertrophic, 25", "description": "Cardiomyopathy, familial hypertrophic, 25" } ], "evidence": [ { "id": "607487", "database": "MIM", "url": "https://www.omim.org/entry/607487" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "60.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "52.08", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "78.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "74.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "59.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "72.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173991", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173991" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15273", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial 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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", 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"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 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"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 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"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, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15273", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "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", 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15273", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15273", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "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 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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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15273", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15273", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15273" } ], "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": "" }, 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Genet.", "date": "2000", "authors": "Moreira E S, Wiltshire T J, Faulkner G, Nilforoushan A, Vainzof M, Suzuki O T, Valle G, Reeves R, Zatz M, Passos-Bueno M R, Jenne D E", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "10655062", "url": "https://glygen.org/publication/PubMed/10655062" } ] }, { "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": "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "10984498", "url": "https://glygen.org/publication/PubMed/10984498" } ] }, { "title": "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Frey N, Olson EN", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "11842093", "url": "https://glygen.org/publication/PubMed/11842093" } ] }, { "title": "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.", "journal": "Cell", "date": "2002", "authors": "Knoll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "12507422", "url": "https://glygen.org/publication/PubMed/12507422" } ] }, { "title": "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle.", "journal": "J. Mol. Biol.", "date": "2004", "authors": "Kojic Snezana, Medeot Elisa, Guccione Ernesto, Krmac Helena, Zara Ivano, Martinelli Valentina, Valle Giorgio, Faulkner Georgine", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "15136035", "url": "https://glygen.org/publication/PubMed/15136035" } ] }, { "title": "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.", "journal": "Journal of the American College of Cardiology", "date": "2004", "authors": "Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "15582318", "url": "https://glygen.org/publication/PubMed/15582318" } ] }, { "title": "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.", "journal": "Molecular genetics and metabolism", "date": "2006", "authors": "Bos JM, Poley RN, Ny M, Tester DJ, Xu X, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "16352453", "url": "https://glygen.org/publication/PubMed/16352453" } ] }, { "title": "Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.", "journal": "Nature", "date": "2006", "authors": "Zou Peijian, Pinotsis Nikos, Lange Stephan, Song Young-Hwa, Popov Alexander, Mavridis Irene, Mayans Olga M, Gautel Mathias, Wilmanns Matthias", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "16407954", "url": "https://glygen.org/publication/PubMed/16407954" } ] }, { "title": "Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism.", "journal": "Mol. Genet. Metab.", "date": "2006", "authors": "Perrot Andreas, Posch Maximilian G, Osterziel Karl Josef", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "16490376", "url": "https://glygen.org/publication/PubMed/16490376" } ] }, { "title": "Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.", "journal": "Mol. Genet. Metab.", "date": "2006", "authors": "Marziliano N, Pilotto A, Grasso M, Pasotti M, Arbustini E", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "16650785", "url": "https://glygen.org/publication/PubMed/16650785" } ] }, { "title": "Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus.", "journal": "J. Struct. Biol.", "date": "2006", "authors": "Pinotsis Nikos, Petoukhov Maxim, Lange Stephan, Svergun Dmitri, Zou Peijian, Gautel Mathias, Wilmanns Matthias", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "16713295", "url": "https://glygen.org/publication/PubMed/16713295" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O15273", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15273" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.", "journal": "FEBS J.", "date": "2014", "authors": "Vafiadaki E, Arvanitis DA, Papalouka V, Terzis G, Roumeliotis TI, Spengos K, Garbis SD, Manta P, Kranias EG, Sanoudou D", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "24860983", "url": "https://glygen.org/publication/PubMed/24860983" } ] }, { "title": "Distal myopathy due to TCAP variants in four unrelated Chinese patients.", "journal": "Neurogenetics", "date": "2021", "authors": "Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" } ], "reference": [ { "type": "PubMed", "id": "32761539", "url": "https://glygen.org/publication/PubMed/32761539" } ] }, { "title": "The GSK-3beta-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function.", "journal": "Cell reports", "date": "2020", "authors": "Wirianto M, Yang J, Kim E, Gao S, Paudel KR, Choi JM, Choe J, Gloston GF, Ademoji P, Parakramaweera R, Jin J, Esser KA, Jung SY, Geng YJ, Lee HK, Chen Z, Yoo SH", "evidence": [ { "database": "iPTMnet", "id": "O15273", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15273" } ], "reference": [ { "type": "PubMed", "id": "32937135", "url": "https://glygen.org/publication/PubMed/32937135" } ] }, { "title": "The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.", "journal": "Human molecular genetics", "date": "2023-07-20", "authors": "Lv Xiaoqing, Lin Feng, Wu Wenjing, Wang Hui, Luo Yuebei, Wang Zhiqiang, Yan Chuanzhu, Lv He, Luo Sushan, Lin Pengfei", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" } ], "reference": [ { "type": "PubMed", "id": "37216648", "url": "https://glygen.org/publication/PubMed/37216648" } ] }, { "title": "TCAP gene is not a common cause of cardiomyopathy in Iranian patients.", "journal": "European journal of medical research", "date": "2023-09-26", "authors": "Alaei Zahra, Zamani Nasrin, Rabbani Bahareh, Mahdieh Nejat", "evidence": [ { "database": "RefSeq", "id": "NP_003664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003664" } ], "reference": [ { "type": "PubMed", "id": "37752589", "url": "https://glygen.org/publication/PubMed/37752589" } ] }, { "title": "Telethonin, a novel sarcomeric protein of heart and skeletal muscle.", "journal": "FEBS Lett.", "date": "1997", "authors": "Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, Tiso N, Toppo S, Trevisan S, Lanfranchi G", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "9350988", "url": "https://glygen.org/publication/PubMed/9350988" } ] }, { "title": "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin.", "journal": "FEBS Lett.", "date": "1998", "authors": "Mues A, van der Ven P F, Young P, F\u00fcrst D O, Gautel M", "evidence": [ { "database": "UniProtKB", "id": "O15273", "url": "https://www.uniprot.org/uniprot/O15273" } ], "reference": [ { "type": "PubMed", "id": "9645487", "url": "https://glygen.org/publication/PubMed/9645487" } ] }, { "title": "Structural basis for activation of the titin kinase domain during myofibrillogenesis.", "journal": "Nature", "date": "1998", "authors": "Mayans O, van der Ven PF, Wilm M, Mues A, Young P, Furst DO, Wilmanns M, Gautel M", "evidence": [ { "database": "iPTMnet", "id": "O15273", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15273" } ], "reference": [ { "type": "PubMed", "id": "9804419", "url": "https://glygen.org/publication/PubMed/9804419" } ] } ], "pathway": [ { "id": "hsa:8557", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8557", "resource": "KEGG Pathway" }, { "id": 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