{ "uniprot_canonical_ac": "O15554-1", "uniprot_ac": "O15554", "uniprot_id": "KCNN4_HUMAN", "mass": { "chemical_mass": 47696.0, "monoisotopic_mass": 47696.0 }, "refseq": { "ac": "NP_002241", "name": "intermediate conductance calcium-activated potassium channel protein 4", "summary": "The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" }, "gene_names": [ { "name": "KCNN4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15554", "id": "O15554" }, { "name": "DHS2; hIKCa1; hKCa4; hSK4; IK; IK1; IKCA1; KCa3.1; KCA4; SK4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241", "id": "NP_002241" }, { "name": "IK1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15554", "id": "O15554" }, { "name": "IKCA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15554", "id": "O15554" }, { "name": "KCA4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15554", "id": "O15554" }, { "name": "KCNN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241", "id": "NP_002241" }, { "name": "SK4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15554", "id": "O15554" } ], "protein_names": [ { "name": "Intermediate conductance calcium-activated potassium channel protein 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15554" }, { "name": "IK1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "IKCa1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "KCa3.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "KCa4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "Putative Gardos channel", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "SK4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "SKCa 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "SKCa4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15554" }, { "name": "intermediate conductance calcium-activated potassium channel protein 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241", "id": "NP_002241" }, { "name": "putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel; SKCa4; SKCa 4; putative Gardos channel; potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4; small conductance calcium-activated potassium channel 4; potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4; intermediate-conductance Ca2+-activated K+ channel, KCa3.1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241", "id": "NP_002241" } ], "function": [ { "annotation": "A single coiled-coil domain mutation in hIKCa channel subunits disrupts preferential formation of heteromeric hSK1:hIKCa channels.", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" }, { "database": "PubMed", "id": "38018635", "url": "https://glygen.org/publication/PubMed/38018635" } ] }, { "annotation": "Downregulation of IL-8 and IL-10 by the Activation of Ca(2+)-Activated K(+) Channel KCa3.1 in THP-1-Derived M2 Macrophages. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" }, { "database": "PubMed", "id": "35955737", "url": "https://glygen.org/publication/PubMed/35955737" } ] }, { "annotation": "Forms a voltage-independent potassium channel that is activated by intracellular calcium (PubMed:26148990). Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells (PubMed:17157250, PubMed:18796614). Plays a role in the late stages of EGF-induced macropinocytosis (PubMed:24591580).", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554#function" }, { "database": "PubMed", "id": "26148990", "url": "https://glygen.org/publication/PubMed/26148990" }, { "database": "PubMed", "id": "18796614", "url": "https://glygen.org/publication/PubMed/18796614" }, { "database": "PubMed", "id": "17157250", "url": "https://glygen.org/publication/PubMed/17157250" }, { "database": "PubMed", "id": "24591580", "url": "https://glygen.org/publication/PubMed/24591580" } ] }, { "annotation": "KCNN4 Promotes the Stemness Potentials of Liver Cancer Stem Cells by Enhancing Glucose Metabolism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" }, { "database": "PubMed", "id": "35805963", "url": "https://glygen.org/publication/PubMed/35805963" } ] }, { "annotation": "KCNN4 links PIEZO-dependent mechanotransduction to NLRP3 inflammasome activation.", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" }, { "database": "PubMed", "id": "38134241", "url": "https://glygen.org/publication/PubMed/38134241" } ] }, { "annotation": "Pancreatic KCa3.1 channels in health and disease. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" }, { "database": "PubMed", "id": "36571487", "url": "https://glygen.org/publication/PubMed/36571487" } ] }, { "annotation": "The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" } ] } ], "disease": [ { "disease_id": "DOID:0111577", "recommended_name": { "id": "DOID:0111577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111577", "name": "dehydrated hereditary stomatocytosis 2", "description": "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31." }, "synonyms": [ { "id": "DOID:0111577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111577", "name": "desiccytosis Gardos", "description": "" }, { "id": "DOID:0111577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111577", "name": "xerocytosis Gardos", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "dehydrated hereditary stomatocytosis 2", "description": "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "DHS2", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "Dehydrated hereditary stomatocytosis 2", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "Dehydrated hereditary stomatocytosis type 2", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "KCNN4 dehydrated hereditary stomatocytosis", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "dehydrated hereditary stomatocytosis 2; DHS2", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "dehydrated hereditary stomatocytosis caused by mutation in KCNN4", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "Desiccytosis Gardos", "description": "" }, { "id": "MONDO:0014737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014737", "name": "xerocytosis Gardos", "description": "" }, { "id": "MIM:616689", "resource": "MIM", "url": "https://www.omim.org/entry/616689", "name": "Dehydrated hereditary stomatocytosis 2", "description": "Dehydrated hereditary stomatocytosis 2" } ], "evidence": [ { "id": "616689", "database": "MIM", "url": "https://www.omim.org/entry/616689" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 250, "end_pos": 250, "sequence_org": "T", "sequence_mut": "S", "comment": "Loss of sensitivity to triarylmethanes.", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" }, { "database": "PubMed", "id": "11425865", "url": "https://glygen.org/publication/PubMed/11425865" } ] }, { "start_pos": 275, "end_pos": 275, "sequence_org": "V", "sequence_mut": "A", "comment": "Loss of sensitivity to triarylmethanes.", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" }, { "database": "PubMed", "id": "11425865", "url": "https://glygen.org/publication/PubMed/11425865" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "58.01", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "69.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "67.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "62.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "56.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104783", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104783" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"" }, { "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": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15554", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15554" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFLVKCTISISTFLLLCLIVAFHAKEVQLFMTDNGLRDWRVALTGRQAAQIVLELVVCGLHPAPVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYRSIGALNQVRFRHWFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHNFMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK", "length": 427, "header": "sp|O15554-1|KCNN4_HUMAN Isoform 1 of Intermediate conductance calcium-activated potassium channel protein 4 OS=Homo sapiens OX=9606 GN=KCNN4 PE=1 SV=1 CANONICAL=O15554-1" }, "isoforms": [ { "isoform_ac": "M0QZ70-1", "url": "", "sequence": { "sequence": "VDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK", "length": 59, "header": "tr|M0QZ70-1|KCNN4_HUMAN Computationally mapped isoform of Intermediate conductance calcium-activated potassium channel protein 4 OS=Homo sapiens OX=9606 GN=KCNN4 PE=1 SV=1 CANONICAL=O15554-1" }, "locus": { "chromosome": "19", "start_pos": 43768977, "end_pos": 43767546, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600909.1", "url": "https://www.ensembl.org/id/ENST00000600909.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470339.1", "url": "https://www.ensembl.org/id/ENSP00000470339.1" } ] } }, { "isoform_ac": "M0R1J0-1", "url": "", "sequence": { "sequence": "XVCCTALLVAVVARKLEFNKAEKHVHNFMMDIQYTKEEGVSCCPQASAQAAGRHQRVRAALYAHVSMCTHVQVTSLHGCVCACPCLSRFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK", "length": 165, "header": "tr|M0R1J0-1|KCNN4_HUMAN Computationally mapped isoform of Intermediate conductance calcium-activated potassium channel protein 4 OS=Homo sapiens OX=9606 GN=KCNN4 PE=1 SV=1 CANONICAL=O15554-1" }, "locus": { "chromosome": "19", "start_pos": 43769827, "end_pos": 43767544, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598836.1", "url": "https://www.ensembl.org/id/ENST00000598836.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000471900.1", "url": "https://www.ensembl.org/id/ENSP00000471900.1" } ] } }, { "isoform_ac": "M0R2E8-1", "url": "", "sequence": { "sequence": "SDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHNFMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINA", "length": 113, "header": "tr|M0R2E8-1|KCNN4_HUMAN Computationally mapped isoform of Intermediate conductance calcium-activated potassium channel protein 4 OS=Homo sapiens OX=9606 GN=KCNN4 PE=1 SV=1 CANONICAL=O15554-1" }, "locus": { "chromosome": "19", "start_pos": 43772107, "end_pos": 43769441, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600408.1", "url": "https://www.ensembl.org/id/ENST00000600408.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000472510.1", "url": "https://www.ensembl.org/id/ENSP00000472510.1" } ] } }, { "isoform_ac": "M0R2F1-1", "url": "", "sequence": { "sequence": "MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSTHFG", "length": 57, "header": "tr|M0R2F1-1|KCNN4_HUMAN Computationally mapped isoform of Intermediate conductance calcium-activated potassium channel protein 4 OS=Homo sapiens OX=9606 GN=KCNN4 PE=1 SV=1 CANONICAL=O15554-1" }, "locus": { "chromosome": "19", "start_pos": 43780861, "end_pos": 43772092, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599720.5", "url": "https://www.ensembl.org/id/ENST00000599720.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000472513.1", "url": "https://www.ensembl.org/id/ENSP00000472513.1" } ] } }, { "isoform_ac": "O15554-1", "url": "", "sequence": { "sequence": "MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFLVKCTISISTFLLLCLIVAFHAKEVQLFMTDNGLRDWRVALTGRQAAQIVLELVVCGLHPAPVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYRSIGALNQVRFRHWFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDTLWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHNFMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRKLREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLPEPSQQSK", "length": 427, "header": "sp|O15554-1|KCNN4_HUMAN Isoform 1 of Intermediate conductance calcium-activated potassium channel protein 4 OS=Homo sapiens OX=9606 GN=KCNN4 PE=1 SV=1 CANONICAL=O15554-1" }, "locus": { "chromosome": "19", "start_pos": 43780861, "end_pos": 43767546, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648319.1", "url": "https://www.ensembl.org/id/ENST00000648319.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496939.1", "url": "https://www.ensembl.org/id/ENSP00000496939.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" }, { "database": "PubMed", "id": "15243742", "url": "https://glygen.org/publication/PubMed/15243742" } ], "site_lbl": "Ser314" }, { "start_pos": 329, "end_pos": 329, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" }, { "database": "PubMed", "id": "15243742", "url": "https://glygen.org/publication/PubMed/15243742" } ], "site_lbl": "Thr329" }, { "start_pos": 334, "end_pos": 334, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" }, { "database": "PubMed", "id": "15243742", "url": "https://glygen.org/publication/PubMed/15243742" } ], "site_lbl": "Ser334" }, { "start_pos": 358, "end_pos": 358, "kinase_uniprot_canonical_ac": "P22392-1", "kinase_gene_name": "NME2", "residue": "His", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" }, { "database": "PubMed", "id": "17157250", "url": "https://glygen.org/publication/PubMed/17157250" }, { "database": "PubMed", "id": "18796614", "url": "https://glygen.org/publication/PubMed/18796614" } ], "site_lbl": "His358" }, { "start_pos": 358, "end_pos": 358, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "His", "comment": "Phosphohistidine", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" }, { "database": "PubMed", "id": "17157250", "url": 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Biol. Chem.", "date": "1999", "authors": "Fanger CM, Ghanshani S, Logsdon NJ, Rauer H, Kalman K, Zhou J, Beckingham K, Chandy KG, Cahalan MD, Aiyar J", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "10026195", "url": "https://glygen.org/publication/PubMed/10026195" } ] }, { "title": "Up-regulation of the IKCa1 potassium channel during T-cell activation. Molecular mechanism and functional consequences.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Ghanshani S, Wulff H, Miller M J, Rohm H, Neben A, Gutman G A, Cahalan M D, Chandy K G", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "10961988", "url": "https://glygen.org/publication/PubMed/10961988" } ] }, { "title": "Delineation of the clotrimazole/TRAM-34 binding site on the intermediate conductance calcium-activated potassium channel, IKCa1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Wulff H, Gutman GA, Cahalan MD, Chandy KG", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "11425865", "url": "https://glygen.org/publication/PubMed/11425865" } ] }, { "title": "Protein kinase A inhibits intermediate conductance Ca2+-activated K+ channels expressed in Xenopus oocytes.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2004", "authors": "Neylon CB, D'Souza T, Reinhart PH", "evidence": [ { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" } ], "reference": [ { "type": "PubMed", "id": "15243742", "url": "https://glygen.org/publication/PubMed/15243742" } ] }, { "title": "The phosphatidylinositol 3-phosphate phosphatase myotubularin-related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1.", "journal": "Mol. Cell. Biol.", "date": "2005", "authors": "Srivastava Shekhar, Li Zhai, Lin Lin, Liu GongXin, Ko Kyung, Coetzee William A, Skolnik Edward Y", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "15831468", "url": "https://glygen.org/publication/PubMed/15831468" } ] }, { "title": "Histidine phosphorylation of the potassium channel KCa3.1 by nucleoside diphosphate kinase B is required for activation of KCa3.1 and CD4 T cells.", "journal": "Molecular cell", "date": "2006", "authors": "Srivastava S, Li Z, Ko K, Choudhury P, Albaqumi M, Johnson AK, Yan Y, Backer JM, Unutmaz D, Coetzee WA, Skolnik EY", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" }, { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" } ], "reference": [ { "type": "PubMed", "id": "17157250", "url": "https://glygen.org/publication/PubMed/17157250" } ] }, { "title": "Protein histidine phosphatase 1 negatively regulates CD4 T cells by inhibiting the K+ channel KCa3.1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Srivastava S, Zhdanova O, Di L, Li Z, Albaqumi M, Wulff H, Skolnik EY", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" }, { "database": "iPTMnet", "id": "O15554", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15554" } ], "reference": [ { "type": "PubMed", "id": "18796614", "url": "https://glygen.org/publication/PubMed/18796614" } ] }, { "title": "Openers of SKCa and IKCa channels enhance agonist-evoked endothelial nitric oxide synthesis and arteriolar vasodilation.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2009", "authors": "Sheng JZ, Ella S, Davis MJ, Hill MA, Braun AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296052", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296052" } ], "reference": [ { "type": "PubMed", "id": "19074509", "url": "https://glygen.org/publication/PubMed/19074509" } ] }, { "title": "Large conductance, Ca2+-activated K+ channels (BKCa) and arteriolar myogenic signaling.", "journal": "FEBS letters", "date": "2010", "authors": "Hill MA, Yang Y, Ella SR, Davis MJ, Braun AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296052", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296052" } ], "reference": [ { "type": "PubMed", "id": "20178789", "url": "https://glygen.org/publication/PubMed/20178789" } ] }, { "title": "Novel spliced variants of large-conductance Ca(2+)-activated K(+)-channel beta2-subunit in human and rodent pancreas.", "journal": "Journal of pharmacological sciences", "date": "2010", "authors": "Ohya S, Fujimori T, Kimura T, Yamamura H, Imaizumi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296052", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296052" } ], "reference": [ { "type": "PubMed", "id": "20859064", "url": "https://glygen.org/publication/PubMed/20859064" } ] }, { "title": "Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Maekawa M, Terasaka S, Mochizuki Y, Kawai K, Ikeda Y, Araki N, Skolnik EY, Taguchi T, Arai H", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "24591580", "url": "https://glygen.org/publication/PubMed/24591580" } ] }, { "title": "A mutation in the Gardos channel is associated with hereditary xerocytosis.", "journal": "Blood", "date": "2015", "authors": "Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Beroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "26148990", "url": "https://glygen.org/publication/PubMed/26148990" } ] }, { "title": "Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).", "journal": "American journal of hematology", "date": "2015", "authors": "Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "26178367", "url": "https://glygen.org/publication/PubMed/26178367" } ] }, { "title": "Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.", "journal": "Blood", "date": "2015", "authors": "Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG", "evidence": [ { "database": "UniProtKB", "id": "O15554", "url": "https://www.uniprot.org/uniprot/O15554" } ], "reference": [ { "type": "PubMed", "id": "26198474", "url": "https://glygen.org/publication/PubMed/26198474" } ] }, { "title": "KCNN4 is a diagnostic and prognostic biomarker that promotes papillary thyroid cancer progression.", "journal": "Aging", "date": "2020", "authors": "Wen J, Lin B, Lin L, Chen Y, Wang O", "evidence": [ { "database": "GlyGen", "id": "A0291", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "32857728", "url": "https://glygen.org/publication/PubMed/32857728" } ] }, { "title": "KCNN4 Promotes the Stemness Potentials of Liver Cancer Stem Cells by Enhancing Glucose Metabolism.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Fan J, Tian R, Yang X, Wang H, Shi Y, Fan X, Zhang J, Chen Y, Zhang K, Chen Z, Li L", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" } ], "reference": [ { "type": "PubMed", "id": "35805963", "url": "https://glygen.org/publication/PubMed/35805963" } ] }, { "title": "Downregulation of IL-8 and IL-10 by the Activation of Ca(2+)-Activated K(+) Channel K(Ca)3.1 in THP-1-Derived M(2) Macrophages.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Ohya S, Matsui M, Kajikuri J, Kito H, Endo K", "evidence": [ { "database": "RefSeq", "id": "NP_002241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002241" } ], "reference": [ { "type": "PubMed", "id": "35955737", "url": "https://glygen.org/publication/PubMed/35955737" } ] }, { "title": "Pancreatic KCa3.1 channels in health and disease.", "journal": "Biological chemistry", "date": "2022-12-27", "authors": "Soret Benjamin, Hense Jurek, 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