{ "uniprot_canonical_ac": "P0DP23-1", "uniprot_ac": "P0DP23", "uniprot_id": "CALM1_HUMAN", "mass": { "chemical_mass": 16838.0, "monoisotopic_mass": 16838.0 }, "refseq": { "ac": "NP_001316851", "name": "calmodulin-3 isoform 1", "summary": "This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851" }, "gene_names": [ { "name": "CALM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CALM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CALM3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CALM2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CALM3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851", "id": "NP_001316851" }, { "name": "CALM3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CALM; CaM; CAM1; CAM2; CAMB; CaMIII; CPVT6; HEL-S-72; LQT16; PHKD; PHKD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851", "id": "NP_001316851" }, { "name": "CALM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CAM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "CAM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "hCG_17033", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" }, { "name": "hCG_20313", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DP23", "id": "P0DP23" } ], "protein_names": [ { "name": "Calmodulin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DP23" }, { "name": "calmodulin-3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851", "id": "NP_001316851" }, { "name": "prepro-calmodulin 3; epididymis secretory protein Li 72; phosphorylase kinase subunit delta; Calmodulin-1; Calmodulin-2; phosphorylase kinase subunit delta 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851", "id": "NP_001316851" } ], "function": [ { "annotation": "(Microbial infection) Required for C.violaceum CopC arginine ADP-riboxanase activity.", "evidence": [ { "database": "UniProtKB", "id": "P0DP23", "url": "https://www.uniprot.org/uniprot/P0DP23#function" }, { "database": "PubMed", "id": "36423631", "url": "https://glygen.org/publication/PubMed/36423631" }, { "database": "PubMed", "id": "35446120", "url": "https://glygen.org/publication/PubMed/35446120" }, { "database": "PubMed", "id": "35338844", "url": "https://glygen.org/publication/PubMed/35338844" } ] }, { "annotation": "(Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "P0DP23", "url": "https://www.uniprot.org/uniprot/P0DP23#function" }, { "database": "PubMed", "id": "31330532", "url": "https://glygen.org/publication/PubMed/31330532" } ] }, { "annotation": "CALM3 affects the prognosis of leukemia and hemorrhoids.", "evidence": [ { "database": "RefSeq", "id": "NP_001316851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851" }, { "database": "PubMed", "id": "37932969", "url": "https://glygen.org/publication/PubMed/37932969" } ] }, { "annotation": "Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029). Acts as a sensor to modulate the endoplasmic reticulum contacts with other organelles mediated by VMP1:ATP2A2 (PubMed:28890335).", "evidence": [ { "database": "UniProtKB", "id": "P0DP23", "url": "https://www.uniprot.org/uniprot/P0DP23#function" }, { "database": "PubMed", "id": "27165696", "url": "https://glygen.org/publication/PubMed/27165696" }, { "database": "PubMed", "id": "23893133", "url": "https://glygen.org/publication/PubMed/23893133" }, { "database": "PubMed", "id": "35568036", "url": "https://glygen.org/publication/PubMed/35568036" }, { "database": "PubMed", "id": "16760425", "url": "https://glygen.org/publication/PubMed/16760425" }, { "database": "PubMed", "id": "28890335", "url": "https://glygen.org/publication/PubMed/28890335" }, { "database": "PubMed", "id": "31454269", "url": "https://glygen.org/publication/PubMed/31454269" }, { "database": "PubMed", "id": "26969752", "url": "https://glygen.org/publication/PubMed/26969752" }, { "database": "PubMed", "id": "25441029", "url": "https://glygen.org/publication/PubMed/25441029" } ] }, { "annotation": "Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.", "evidence": [ { "database": "RefSeq", "id": "NP_001316851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851" }, { "database": "PubMed", "id": "37380439", "url": "https://glygen.org/publication/PubMed/37380439" } ] }, { "annotation": "Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family.", "evidence": [ { "database": "RefSeq", "id": "NP_001316851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851" }, { "database": "PubMed", "id": "35225649", "url": "https://glygen.org/publication/PubMed/35225649" } ] }, { "annotation": "This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001316851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851" } ] } ], "disease": [ { "disease_id": "DOID:0060678", "recommended_name": { "id": "DOID:0060678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060678", "name": "catecholaminergic polymorphic ventricular tachycardia 4", "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32." }, "synonyms": [ { "id": "DOID:0060678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060678", "name": "CVPT4", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "catecholaminergic polymorphic ventricular tachycardia 4", "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "CALM1 catecholaminergic polymorphic ventricular tachycardia", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "CVPT4", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "catecholaminergic polymorphic ventricular tachycardia 4", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "catecholaminergic polymorphic ventricular tachycardia type 4", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "ventricular tachycardia, catecholaminergic polymorphic, type 4", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "CPVT4", "description": "" }, { "id": "MONDO:0013966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013966", "name": "ventricular tachycardia, catecholaminergic polymorphic, 4", "description": "" }, { "id": "MIM:614916", "resource": "MIM", "url": "https://www.omim.org/entry/614916", "name": "Ventricular tachycardia, catecholaminergic polymorphic, 4", "description": "Ventricular tachycardia, catecholaminergic polymorphic, 4" } ], "evidence": [ { "id": "614916", "database": "MIM", "url": "https://www.omim.org/entry/614916" } ] }, { "disease_id": "DOID:0110655", "recommended_name": { "id": "DOID:0110655", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110655", "name": "long QT syndrome 14", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11." }, "synonyms": [ { "id": "DOID:0110655", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110655", "name": "LQT14", "description": "" }, { "id": "MONDO:0014548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014548", "name": "long QT syndrome 14", "description": "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." }, { "id": "MONDO:0014548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014548", "name": "CALM1 long QT syndrome", "description": "" }, { "id": "MONDO:0014548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014548", "name": "LQT14", "description": "" }, { "id": "MONDO:0014548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014548", "name": "long QT syndrome 14", "description": "" }, { "id": "MONDO:0014548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014548", "name": "long QT syndrome caused by mutation in CALM1", "description": "" }, { "id": "MONDO:0014548", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014548", "name": "long QT syndrome type 14", "description": "" }, { "id": "MIM:616247", "resource": "MIM", "url": "https://www.omim.org/entry/616247", "name": "Long QT syndrome 14", "description": "Long QT syndrome 14" } ], "evidence": [ { "id": "616247", "database": "MIM", "url": "https://www.omim.org/entry/616247" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "98.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198668", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198668" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0DP23", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DP23" } ], "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": 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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": "P0DP23", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DP23" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"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": 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"sequence": "MRRWGRRRRISPSGESELSGCVVASRKPVALAAWLTN", "length": 37, "header": "tr|A0A590UJE2-1|A0A590UJE2_HUMAN Computationally mapped isoform of Calmodulin 2 OS=Homo sapiens OX=9606 GN=CALM2 PE=4 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "2", "start_pos": 47176541, "end_pos": 47170755, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652974.1", "url": "https://www.ensembl.org/id/ENST00000652974.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499369.1", "url": "https://www.ensembl.org/id/ENSP00000499369.1" } ] } }, { "isoform_ac": "A0A590UJI2-1", "url": "", "sequence": { "sequence": "MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYE", "length": 104, "header": "tr|A0A590UJI2-1|A0A590UJI2_HUMAN Computationally mapped isoform of Calmodulin 2 OS=Homo sapiens OX=9606 GN=CALM2 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "2", "start_pos": 47162588, "end_pos": 47161724, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484408.5", "url": "https://www.ensembl.org/id/ENST00000484408.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000499468.1", "url": "https://www.ensembl.org/id/ENSP00000499468.1" } ] } }, { "isoform_ac": "E7EMB3-1", "url": "", "sequence": { "sequence": "MILAHCNLCCPTSSNSPGSVSQVAGITGVHHHTRLVFVFLGEMGFHHVGQAGLELLTSEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK", "length": 196, "header": "tr|E7EMB3-1|E7EMB3_HUMAN Computationally mapped isoform of Calmodulin 2 OS=Homo sapiens OX=9606 GN=CALM2 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "2", "start_pos": 47167650, "end_pos": 47160779, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409563.5", "url": "https://www.ensembl.org/id/ENST00000409563.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387065.1", "url": "https://www.ensembl.org/id/ENSP00000387065.1" } ] } }, { "isoform_ac": "F8WBR5-1", "url": "", "sequence": { "sequence": "MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGWQWLY", "length": 65, "header": "tr|F8WBR5-1|F8WBR5_HUMAN Computationally mapped isoform of Calmodulin 2 OS=Homo sapiens OX=9606 GN=CALM2 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "2", "start_pos": 47176443, "end_pos": 47161842, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432899.5", "url": "https://www.ensembl.org/id/ENST00000432899.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406112.1", "url": "https://www.ensembl.org/id/ENSP00000406112.1" } ] } }, { "isoform_ac": "G3V226-1", "url": "", "sequence": { "sequence": "MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKCSRTTSRHDKLRRKTNR", "length": 76, "header": "tr|G3V226-1|G3V226_HUMAN Computationally mapped isoform of Calmodulin 1 OS=Homo sapiens OX=9606 GN=CALM1 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "14", "start_pos": 90404449, "end_pos": 90401333, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553422.1", "url": "https://www.ensembl.org/id/ENST00000553422.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450425.1", "url": "https://www.ensembl.org/id/ENSP00000450425.1" } ] } }, { "isoform_ac": "G3V361-1", "url": "", "sequence": { "sequence": "MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGD", "length": 98, "header": "tr|G3V361-1|G3V361_HUMAN Computationally mapped isoform of Calmodulin 1 OS=Homo sapiens OX=9606 GN=CALM1 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "14", "start_pos": 90404495, "end_pos": 90401333, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557020.5", "url": "https://www.ensembl.org/id/ENST00000557020.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451062.1", "url": "https://www.ensembl.org/id/ENSP00000451062.1" } ] } }, { "isoform_ac": "G3V479-1", "url": "", "sequence": { "sequence": "MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGWQWLYQCSRTTSRHDKLRRKTNR", "length": 83, "header": "tr|G3V479-1|G3V479_HUMAN Computationally mapped isoform of Calmodulin 1 OS=Homo sapiens OX=9606 GN=CALM1 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "14", "start_pos": 90404449, "end_pos": 90397231, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553630.1", "url": "https://www.ensembl.org/id/ENST00000553630.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451646.1", "url": "https://www.ensembl.org/id/ENSP00000451646.1" } ] } }, { "isoform_ac": "M0QZ52-1", "url": "", "sequence": { "sequence": "MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDEMIREADIDGDGQVNYEEFVQMMTAK", "length": 83, "header": "tr|M0QZ52-1|M0QZ52_HUMAN Computationally mapped isoform of Calmodulin 3 OS=Homo sapiens OX=9606 GN=CALM3 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "19", "start_pos": 46609150, "end_pos": 46601435, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000597743.5", "url": "https://www.ensembl.org/id/ENST00000597743.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470308.1", "url": "https://www.ensembl.org/id/ENSP00000470308.1" } ] } }, { "isoform_ac": "P0DP23-1", "url": "", "sequence": { "sequence": "MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK", "length": 149, "header": "sp|P0DP23-1|CALM1_HUMAN Isoform 1 of Calmodulin-1 OS=Homo sapiens OX=9606 GN=CALM1 PE=1 SV=1 CANONICAL=P0DP23-1" }, "locus": { "chromosome": "14", "start_pos": 90404714, "end_pos": 90397231, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356978.9", "url": "https://www.ensembl.org/id/ENST00000356978.9" }, { "database": "Ensembl Peptide", 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