{ "uniprot_canonical_ac": "O95279-1", "uniprot_ac": "O95279", "uniprot_id": "KCNK5_HUMAN", "mass": { "chemical_mass": 55130.0, "monoisotopic_mass": 55130.0 }, "refseq": { "ac": "NP_003731", "name": "potassium channel subfamily K member 5", "summary": "This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" }, "gene_names": [ { "name": "KCNK5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95279", "id": "O95279" }, { "name": "K2p5.1; KCNK5b; TASK-2; TASK2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731", "id": "NP_003731" }, { "name": "KCNK5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731", "id": "NP_003731" }, { "name": "TASK2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95279", "id": "O95279" } ], "protein_names": [ { "name": "Potassium channel subfamily K member 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95279" }, { "name": "Acid-sensitive potassium channel protein TASK-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95279" }, { "name": "TWIK-related acid-sensitive K(+) channel 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95279" }, { "name": "potassium channel subfamily K member 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731", "id": "NP_003731" }, { "name": "potassium channel, subfamily K, member 1 (TASK-2); acid-sensitive potassium channel protein TASK-2; TWIK-related acid-sensitive K+ channel 2; K2P5.1 potassium channel; TWIK-related acid-sensitive K(+) channel 2; potassium channel, subfamily, member 5 (KCNK5); potassium channel, two pore domain subfamily K, member 5; TWIK-related acid-sensitive K+ 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731", "id": "NP_003731" } ], "function": [ { "annotation": "As a novel finding, our study suggests a role for KCNK5 in the regulation of platelet size and maturity. Furthermore, our findings confirm an association between the SH2B3-locus and platelet count.", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" }, { "database": "PubMed", "id": "28865245", "url": "https://glygen.org/publication/PubMed/28865245" } ] }, { "annotation": "Common variants in KCNK5 and FHL5 genes contributed to the susceptibility of migraine without aura in Han Chinese population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" }, { "database": "PubMed", "id": "33762637", "url": "https://glygen.org/publication/PubMed/33762637" } ] }, { "annotation": "In human aldosterone-producing adrenocortical cancer cell lines, roxithromycin inhibited KCNJ5MUT-induced induction of CYP11B2 (encoding aldosterone synthase) expression and aldosterone production.", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" }, { "database": "PubMed", "id": "28604387", "url": "https://glygen.org/publication/PubMed/28604387" } ] }, { "annotation": "Mutations in the promoter region of the TWIK-related acid-sensitive K(+) channel 2 (TASK-2) gene did not result in hypertension or primary aldosteronism (PA) during long-term follow-up in healthy participants thus they do not seem to be a factor in causing PA by themselves.", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" }, { "database": "PubMed", "id": "29293917", "url": "https://glygen.org/publication/PubMed/29293917" } ] }, { "annotation": "TASK-2 does not possess a histidine residue at homologous position. Inclusion of such a residue failed to produce expected increase in pH sensitivity; instead, a slight decrease was observed", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" }, { "database": "PubMed", "id": "12634929", "url": "https://glygen.org/publication/PubMed/12634929" } ] }, { "annotation": "This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" } ] }, { "annotation": "pH-dependent, outwardly rectifying potassium channel (PubMed:9812978). Outward rectification is lost at high external K(+) concentrations (PubMed:9812978).", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279#function" }, { "database": "PubMed", "id": "9812978", "url": "https://glygen.org/publication/PubMed/9812978" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 191, "end_pos": 191, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "6", "chr_pos": "39194231", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I191", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1319725046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319725046" }, { "id": "rs1319725046", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1319725046#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 264, "end_pos": 264, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "6", "chr_pos": "39191598", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs145439765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145439765" }, { "id": "rs145439765", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145439765" }, { "id": "rs145439765", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145439765" }, { "id": "rs145439765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145439765#frequency_tab" }, { "id": "rs145439765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145439765" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 383, "end_pos": 383, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "6", "chr_pos": "39191243", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "D383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1173669371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173669371" }, { "id": "rs1173669371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173669371#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 38, "end_pos": 38, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YYT->NYT).", "chr_id": "6", "chr_pos": "39229000", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151090443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151090443#frequency_tab" }, { "id": "rs151090443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151090443" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 444, "end_pos": 444, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "6", "chr_pos": "39191060", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151090443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151090443" }, { "id": "rs151090443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151090443#frequency_tab" }, { "id": "rs151090443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151090443" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 444, "end_pos": 444, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "6", "chr_pos": "39191060", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211290172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211290172" }, { "id": "rs1211290172", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211290172" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 462, "end_pos": 462, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMG->NMS).", "chr_id": "6", "chr_pos": "39191006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95279", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95279" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 86, "end_pos": 86, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NWP->NWS).", "chr_id": "6", "chr_pos": "39195918", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P86", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "73.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "70.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "77.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164626", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164626" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95279", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95279" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95279", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95279" } ], "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": "O95279", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95279" } ], "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": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11003:SF241", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003:SF241", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07885", "url": "http://pfam.xfam.org/family/PF07885", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95279", "url": "https://pharos.nih.gov/targets/O95279", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95279", "url": "http://purl.obolibrary.org/obo/PR_O95279", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95279-1", "url": "https://www.uniprot.org/uniprot/O95279-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKILEVVSDAAGQGVAITGNQTFNNWNWPNAMIFAATVITTIGYGNVAPKTPAGRLFCVFYGLFGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPFVFMVTEGWNYIEGLYYSFITISTIGFGDFVAGVNPSANYHALYRYFVELWIYLGLAWLSLFVNWKVSMFVEVHKAIKKRRRRRKESFESSPHSRKALQVKGSTASKDVNIFSFLSKKEETYNDLIKQIGKKAMKTSGGGETGPGPGLGPQGGGLPALPPSLVPLVVYSKNRVPTLEEVSQTLRSKGHVSRSPDEEAVARAPEDSSPAPEVFMNQLDRISEECEPWDAQDYHPLIFQDASITFVNTEAGLSDEETSKSSLEDNLAGEESPQQGAEAKAPLNMGEFPSSSESTFTSTESELSVPYEQLMNEYNKANSPKGT", "length": 499, "header": "sp|O95279-1|KCNK5_HUMAN Isoform 1 of Potassium channel subfamily K member 5 OS=Homo sapiens OX=9606 GN=KCNK5 PE=1 SV=1 CANONICAL=O95279-1" }, "isoforms": [ { "isoform_ac": "O95279-1", "url": "", 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"https://www.ensembl.org/id/ENSP00000352527.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "O95279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95279#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95279", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95279" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 371, "end_pos": 371, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O95279", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95279" } ], "site_lbl": "Ser371" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Determinants of pH sensing in the two-pore domain K(+) channels TASK-1 and -2.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2003", "authors": "Morton MJ, O'Connell AD, Sivaprasadarao A, Hunter M", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" } ], "reference": [ { "type": "PubMed", "id": "12634929", "url": "https://glygen.org/publication/PubMed/12634929" } ] }, { "title": "Extracellular conserved cysteine forms an intersubunit disulphide bridge in the KCNK5 (TASK-2) K+ channel without having an essential effect upon activity.", "journal": "Mol. Membr. Biol.", "date": "2003", "authors": "Niemeyer MI, Cid LP, Valenzuela X, Paeile V, Sepulveda FV", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279" } ], "reference": [ { "type": "PubMed", "id": "12851074", "url": "https://glygen.org/publication/PubMed/12851074" } ] }, { "title": "Mechanism of the voltage sensitivity of IRK1 inward-rectifier K+ channel block by the polyamine spermine.", "journal": "The Journal of general physiology", "date": "2005", "authors": "Shin HG, Lu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "15795311", "url": "https://glygen.org/publication/PubMed/15795311" } ] }, { "title": "International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels.", "journal": "Pharmacological reviews", "date": "2005", "authors": "Goldstein SA, Bayliss DA, Kim D, Lesage F, Plant LD, Rajan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "16382106", "url": "https://glygen.org/publication/PubMed/16382106" } ] }, { "title": "Biophysical, pharmacological, and functional characteristics of cloned and native mammalian two-pore domain K+ channels.", "journal": "Cell biochemistry and biophysics", "date": "2007", "authors": "Lotshaw DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "17652773", "url": "https://glygen.org/publication/PubMed/17652773" } ] }, { "title": "Regulation of two-pore-domain (K2P) potassium leak channels by the tyrosine kinase inhibitor genistein.", "journal": "Br. J. Pharmacol.", "date": "2008", "authors": "Gierten J, Ficker E, Bloehs R, Schlomer K, Kathofer S, Scholz E, Zitron E, Kiesecker C, Bauer A, Becker R, Katus HA, Karle CA, Thomas D", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279" } ], "reference": [ { "type": "PubMed", "id": "18516069", "url": "https://glygen.org/publication/PubMed/18516069" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279" }, { "database": "iPTMnet", "id": "O95279", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95279" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Molecular background of leak K+ currents: two-pore domain potassium channels.", "journal": "Physiological reviews", "date": "2010", "authors": "Enyedi P, Czirjak G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "20393194", "url": "https://glygen.org/publication/PubMed/20393194" } ] }, { "title": "Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.", "journal": "The Journal of clinical investigation", "date": "2017", "authors": "Scholl UI, Abriola L, Zhang C, Reimer EN, Plummer M, Kazmierczak BI, Zhang J, Hoyer D, Merkel JS, Wang W, Lifton RP", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" } ], "reference": [ { "type": "PubMed", "id": "28604387", "url": "https://glygen.org/publication/PubMed/28604387" } ] }, { "title": "The SH2B3 and KCNK5 loci may be implicated in regulation of platelet count, volume, and maturity.", "journal": "Thrombosis research", "date": "2017", "authors": "Christiansen MK, Larsen SB, Nyegaard M, Neergaard-Petersen S, Wurtz M, Grove EL, Hvas AM, Jensen HK, Kristensen SD", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" } ], "reference": [ { "type": "PubMed", "id": "28865245", "url": "https://glygen.org/publication/PubMed/28865245" } ] }, { "title": "Mutations of the Twik-Related Acid-Sensitive K+ Channel 2 Promoter in Human Primary Aldosteronism.", "journal": "Endocrinology", "date": "2018", "authors": "Lenzini L, Prisco S, Gallina M, Kuppusamy M, Rossi GP", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" } ], "reference": [ { "type": "PubMed", "id": "29293917", "url": "https://glygen.org/publication/PubMed/29293917" } ] }, { "title": "Common variants in KCNK5 and FHL5 genes contributed to the susceptibility of migraine without aura in Han Chinese population.", "journal": "Scientific reports", "date": "2021", "authors": "Jiang Z, Zhao L, Zhang X, Zhang W, Feng Y, Li T", "evidence": [ { "database": "RefSeq", "id": "NP_003731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003731" } ], "reference": [ { "type": "PubMed", "id": "33762637", "url": "https://glygen.org/publication/PubMed/33762637" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95279", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95279" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Cloning and expression of a novel pH-sensitive two pore domain K+ channel from human kidney.", "journal": "The Journal of biological chemistry", "date": "1998-11-20", "authors": "Reyes R, Duprat F, Lesage F, Fink M, Salinas M, Farman N, Lazdunski M", "evidence": [ { "database": "UniProtKB", "id": "O95279", "url": "https://www.uniprot.org/uniprot/O95279" } ], "reference": [ { "type": "PubMed", "id": "9812978", "url": "https://glygen.org/publication/PubMed/9812978" } ] } ], "pathway": [ { "id": "hsa:8645", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8645", "resource": "KEGG Pathway" }, { "id": "R-HSA-5576886", "name": "Phase 4 - resting membrane potential", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886", "resource": "Reactome", "description": "Phase 4 - resting membrane potential" } ], "orthologs": [ { 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