{ "uniprot_canonical_ac": "P07951-1", "uniprot_ac": "P07951", "uniprot_id": "TPM2_HUMAN", "mass": { "chemical_mass": 32851.0, "monoisotopic_mass": 32851.0 }, "refseq": { "ac": "NP_003280", "name": "tropomyosin beta chain isoform Tpm2.2st", "summary": "This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280" }, "gene_names": [ { "name": "TPM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07951", "id": "P07951" }, { "name": "AMCD1; CMYP23; DA1; DA2B; DA2B4; HEL-S-273; NEM4; TMSB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280", "id": "NP_003280" }, { "name": "TMSB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07951", "id": "P07951" }, { "name": "TPM2b", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07951", "id": "P07951" }, { "name": "TPM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280", "id": "NP_003280" } ], "protein_names": [ { "name": "Tropomyosin beta chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07951" }, { "name": "Beta-tropomyosin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07951" }, { "name": "Tropomyosin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07951" }, { "name": "tropomyosin beta chain isoform Tpm2.2st", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280", "id": "NP_003280" }, { "name": "tropomyosin beta chain; nemaline myopathy type 4; epididymis secretory protein Li 273; tropomyosin 2 (beta)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280", "id": "NP_003280" } ], "function": [ { "annotation": "A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_003280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280" }, { "database": "PubMed", "id": "32092148", "url": "https://glygen.org/publication/PubMed/32092148" } ] }, { "annotation": "Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization.", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951#function" }, { "database": "UniProtKB", "id": "P58774", "url": "https://www.uniprot.org/uniprot/P58774#function" }, { "database": "UniProtKB", "id": "P58775", "url": "https://www.uniprot.org/uniprot/P58775#function" } ] }, { "annotation": "Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln(147)Pro Tropomyosin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280" }, { "database": "PubMed", "id": "33066566", "url": "https://glygen.org/publication/PubMed/33066566" } ] }, { "annotation": "Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280" }, { "database": "PubMed", "id": "33919826", "url": "https://glygen.org/publication/PubMed/33919826" } ] }, { "annotation": "This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_003280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280" } ] }, { "annotation": "[Expression of tropomyosin 2 in aortic dissection tissue].", "evidence": [ { "database": "RefSeq", "id": "NP_003280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280" }, { "database": "PubMed", "id": "32957762", "url": "https://glygen.org/publication/PubMed/32957762" } ] } ], "disease": [ { "disease_id": "DOID:0050646", "recommended_name": { "id": "DOID:0050646", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet." }, "synonyms": [ { "id": "DOID:0050646", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050646", "name": "Arthrogryposis Multiplex Congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "AMC", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "DA1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita, distal, type 1", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 2B4", "description": "" }, { "id": "MIM:108120", "resource": "MIM", "url": "https://www.omim.org/entry/108120", "name": "Arthrogryposis, distal, 1A", "description": "Arthrogryposis, distal, 1A" } ], "evidence": [ { "id": "108120", "database": "MIM", "url": "https://www.omim.org/entry/108120" } ] }, { "disease_id": "DOID:0110932", "recommended_name": { "id": "DOID:0110932", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110932", "name": "nemaline myopathy 4", "description": "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13." }, "synonyms": [ { "id": "DOID:0110932", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110932", "name": "NEM4", "description": "" }, { "id": "DOID:0110932", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110932", "name": "nemaline myopathy 4, autosomal dominant", "description": "" }, { "id": "DOID:0110932", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110932", "name": "CAP myopathy 2", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "congenital myopathy 23", "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "CAPM2", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "NEM4", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "TPM2 nemaline myopathy", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "cap myopathy 2", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "nemaline myopathy 4", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "nemaline myopathy 4, autosomal dominant", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "nemaline myopathy caused by mutation in TPM2", "description": "" }, { "id": "MONDO:0012240", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012240", "name": "nemaline myopathy type 4", "description": "" }, { "id": "MIM:609285", "resource": "MIM", "url": "https://www.omim.org/entry/609285", "name": "Congenital myopathy 23", "description": "Congenital myopathy 23" } ], "evidence": [ { "id": "609285", "database": "MIM", "url": "https://www.omim.org/entry/609285" } ] }, { "disease_id": "DOID:0111597", "recommended_name": { "id": "DOID:0111597", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111597", "name": "distal arthrogryposis type 1A", "description": "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3." }, "synonyms": [ { "id": "DOID:0111597", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111597", "name": "DA1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "AMC", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "DA1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita, distal, type 1", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 2B4", "description": "" }, { "id": "MIM:108120", "resource": "MIM", "url": "https://www.omim.org/entry/108120", "name": "Arthrogryposis, distal, 1A", "description": "Arthrogryposis, distal, 1A" } ], "evidence": [ { "id": "108120", "database": "MIM", "url": "https://www.omim.org/entry/108120" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "93.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07951", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07951" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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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": "P07951", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07951" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder 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}, { "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 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"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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07951", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07951" } ], "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/P07951" } ], "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": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" } ], "common_name": "Human" } ], "gene": [ { "name": "TPM2", "url": "https://www.uniprot.org/uniprot/P07951", "locus": { "chromosome": "9", "start_pos": 35681992, "end_pos": 35690056, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198467", "url": "https://www.ensembl.org/id/ENSG00000198467" } ] } } ], "crossref": [ { "id": "ENSG00000198467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198467", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "TPM2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7169", "url": "https://www.ncbi.nlm.nih.gov/gene/7169", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12011", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12011", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P07951", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07951*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q5TCU3", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5TCU3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000533", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000533", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014751", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014751", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7169", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7169", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "108120", "url": "http://www.omim.org/entry/108120", "database": "MIM", "categories": [ "Other" ] }, { "id": "190990", "url": "http://www.omim.org/entry/190990", "database": "MIM", "categories": [ "Other" ] }, { "id": "609285", "url": "http://www.omim.org/entry/609285", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P07951", "url": "https://www.nextprot.org/entry/NX_P07951", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P07951", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07951", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FYDADQT", "url": "https://omabrowser.org/oma/group/FYDADQT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398117at2759", "url": "http://www.orthodb.org/?query=5398117at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19269", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19269", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19269:SF46", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19269:SF46", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00261", "url": "http://pfam.xfam.org/family/PF00261", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07951", "url": "https://pharos.nih.gov/targets/P07951", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07951", "url": "http://purl.obolibrary.org/obo/PR_P07951", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003280", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6A3", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6A3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6A3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6A3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A7XZE4", "url": "https://www.uniprot.org/uniprot/A7XZE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A7XZE4-1", "url": "https://www.uniprot.org/uniprot/A7XZE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07951-1", "url": "https://www.uniprot.org/uniprot/P07951-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07951-2", "url": "https://www.uniprot.org/uniprot/P07951-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07951-3", "url": "https://www.uniprot.org/uniprot/P07951-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TCU3", "url": "https://www.uniprot.org/uniprot/Q5TCU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TCU3-1", "url": "https://www.uniprot.org/uniprot/Q5TCU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQK2", "url": "https://www.uniprot.org/uniprot/U3KQK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQK2-1", "url": "https://www.uniprot.org/uniprot/U3KQK2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL", "length": 284, "header": "sp|P07951-1|TPM2_HUMAN Isoform 1 of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y6A3-1", "url": "", "sequence": { "sequence": "XGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEESTSIATTEHWFTPDTLALTDTPSPCTEPTHKTPWPTLKPLCTGTPWLSLSDSPLHVGTCGPIKP", "length": 133, "header": "tr|A0A2R8Y6A3-1|TPM2_HUMAN Computationally mapped isoform of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": { "chromosome": "9", "start_pos": 35684802, "end_pos": 35682710, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644325.1", "url": "https://www.ensembl.org/id/ENST00000644325.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495075.1", "url": "https://www.ensembl.org/id/ENSP00000495075.1" } ] } }, { "isoform_ac": "A7XZE4-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL", "length": 284, "header": "tr|A7XZE4-1|A7XZE4_HUMAN Computationally mapped isoform of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": { "chromosome": "9", "start_pos": 35689817, "end_pos": 35683162, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647435.1", "url": "https://www.ensembl.org/id/ENST00000647435.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495440.1", "url": "https://www.ensembl.org/id/ENSP00000495440.1" } ] } }, { "isoform_ac": "P07951-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL", "length": 284, "header": "sp|P07951-1|TPM2_HUMAN Isoform 1 of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": { "chromosome": "9", "start_pos": 35689817, "end_pos": 35683162, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645482.3", "url": "https://www.ensembl.org/id/ENST00000645482.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000496494.2", "url": "https://www.ensembl.org/id/ENSP00000496494.2" } ] } }, { "isoform_ac": "P07951-2", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL", "length": 284, "header": "sp|P07951-2|TPM2_HUMAN Isoform 2 of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": { "chromosome": "9", "start_pos": 35689817, "end_pos": 35682084, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378292.9", "url": "https://www.ensembl.org/id/ENST00000378292.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000367542.3", "url": "https://www.ensembl.org/id/ENSP00000367542.3" } ] } }, { "isoform_ac": "P07951-3", "url": "", "sequence": { "sequence": "MAGISSIDAVKKKIQSLQQVADEAEERAEHLQREADAERQARERAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL", "length": 248, "header": "sp|P07951-3|TPM2_HUMAN Isoform 3 of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": {} }, { "isoform_ac": "Q5TCU3-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL", "length": 284, "header": "tr|Q5TCU3-1|TPM2_HUMAN Computationally mapped isoform of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": { "chromosome": "9", "start_pos": 35689817, "end_pos": 35682084, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329305.6", "url": "https://www.ensembl.org/id/ENST00000329305.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000367541.1", "url": "https://www.ensembl.org/id/ENSP00000367541.1" } ] } }, { "isoform_ac": "U3KQK2-1", "url": "", "sequence": { "sequence": "IAEDSDRKYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEGKRSLYK", "length": 111, "header": "tr|U3KQK2-1|TPM2_HUMAN Computationally mapped isoform of Tropomyosin beta chain OS=Homo sapiens OX=9606 GN=TPM2 PE=1 SV=1 CANONICAL=P07951-1" }, "locus": { "chromosome": "9", "start_pos": 35685466, "end_pos": 35684226, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000607559.1", "url": "https://www.ensembl.org/id/ENST00000607559.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000475952.1", "url": "https://www.ensembl.org/id/ENSP00000475952.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07951", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07951" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" } ] } ], "phosphorylation": [ { "start_pos": 108, "end_pos": 108, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": "iPTMnet", "id": "P07951", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07951" } ], "site_lbl": "Thr108" }, { "start_pos": 158, "end_pos": 158, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": "iPTMnet", "id": "P07951", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07951" } ], "site_lbl": "Ser158" }, { "start_pos": 206, "end_pos": 206, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": "iPTMnet", "id": "P07951", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07951" } ], "site_lbl": "Ser206" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" } ], "site_lbl": "Ser215" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": "iPTMnet", "id": "P07951", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07951" } ], "site_lbl": "Thr252" }, { "start_pos": 261, "end_pos": 261, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" } ], "site_lbl": "Tyr261" }, { "start_pos": 271, "end_pos": 271, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" } ], "site_lbl": "Ser271" }, { "start_pos": 282, "end_pos": 282, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": "iPTMnet", "id": "P07951", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07951" } ], "site_lbl": "Thr282" }, { "start_pos": 283, "end_pos": 283, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": "iPTMnet", "id": "P07951", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07951" } ], "site_lbl": "Ser283" }, { "start_pos": 53, "end_pos": 53, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07951", "url": "https://www.uniprot.org/uniprot/P07951" }, { "database": "PubMed", "id": "24692096", "url": "https://glygen.org/publication/PubMed/24692096" }, { "database": 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