{ "uniprot_canonical_ac": "O95069-1", "uniprot_ac": "O95069", "uniprot_id": "KCNK2_HUMAN", "mass": { "chemical_mass": 47093.0, "monoisotopic_mass": 47093.0 }, "refseq": { "ac": "NP_001017424", "name": "potassium channel subfamily K member 2 isoform a", "summary": "This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" }, "gene_names": [ { "name": "KCNK2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95069", "id": "O95069" }, { "name": "KCNK2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424", "id": "NP_001017424" }, { "name": "TREK1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95069", "id": "O95069" }, { "name": "TREK", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95069", "id": "O95069" }, { "name": "hTREK-1c; hTREK-1e; K2p2.1; TPKC1; TREK; TREK-1; TREK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424", "id": "NP_001017424" } ], "protein_names": [ { "name": "Potassium channel subfamily K member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95069" }, { "name": "Outward rectifying potassium channel protein TREK-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95069" }, { "name": "TREK-1 K(+) channel subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95069" }, { "name": "Two pore domain potassium channel TREK-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95069" }, { "name": "Two pore potassium channel TPKC1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95069" }, { "name": "potassium channel subfamily K member 2 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424", "id": "NP_001017424" }, { "name": "potassium inwardly-rectifying channel, subfamily K, member 2; TWIK-related potassium channel 1; potassium channel, two pore domain subfamily K, member 2; two-pore potassium channel 1; tandem-pore-domain potassium channel TREK-1; K2P2.1 potassium channel; TREK-1 K(+) channel subunit; two pore potassium channel TPKC1; two pore domain potassium channel TREK-1; outward rectifying potassium channel protein TREK-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424", "id": "NP_001017424" } ], "function": [ { "annotation": "Activation of TREK-1 (K2P2.1) potassium channels protects against influenza A-induced lung injury.", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" }, { "database": "PubMed", "id": "36410022", "url": "https://glygen.org/publication/PubMed/36410022" } ] }, { "annotation": "Does not display channel activity but reduces the channel activity of isoform 1 and isoform 2 and reduces cell surface expression of isoform 2.", "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069#function" } ] }, { "annotation": "High glucose induced HIF-1alpha/TREK1 expression and myometrium relaxation during pregnancy. Erratum:[Front Endocrinol (Lausanne). 2023 Apr 13;14:1200774. PMID: 37124756] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" }, { "database": "PubMed", "id": "36909311", "url": "https://glygen.org/publication/PubMed/36909311" } ] }, { "annotation": "Involvement of TREK1 channels in the proliferation of human hepatic stellate LX-2 cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" }, { "database": "PubMed", "id": "35177207", "url": "https://glygen.org/publication/PubMed/35177207" } ] }, { "annotation": "Ion channel that contributes to passive transmembrane potassium transport (PubMed:23169818). Reversibly converts between a voltage-insensitive potassium leak channel and a voltage-dependent outward rectifying potassium channel in a phosphorylation-dependent manner (PubMed:11319556). In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069#function" }, { "database": "PubMed", "id": "10784345", "url": "https://glygen.org/publication/PubMed/10784345" }, { "database": "UniProtKB", "id": "P97438", "url": "https://www.uniprot.org/uniprot/P97438#function" }, { "database": "PubMed", "id": "23169818", "url": "https://glygen.org/publication/PubMed/23169818" }, { "database": "PubMed", "id": "11319556", "url": "https://glygen.org/publication/PubMed/11319556" } ] }, { "annotation": "MiR-132-3p promotes heat stimulation-induced esophageal squamous cell carcinoma tumorigenesis by targeting KCNK2.", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" }, { "database": "PubMed", "id": "37014157", "url": "https://glygen.org/publication/PubMed/37014157" } ] }, { "annotation": "Prolonged stretching of rat uteri causes hypoxia and inhibits contractility via potassium channel TREK1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" }, { "database": "PubMed", "id": "37184053", "url": "https://glygen.org/publication/PubMed/37184053" } ] }, { "annotation": "This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs774886517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774886517" }, { "id": "rs774886517", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774886517" }, { "id": "rs774886517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774886517" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 110, "end_pos": 110, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "1", "chr_pos": "215086649", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257498640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257498640" }, { "id": "rs1257498640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257498640#frequency_tab" }, { "id": "rs1257498640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257498640" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 110, "end_pos": 110, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->IST).", "chr_id": "1", "chr_pos": "215086650", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95069", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95069" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 111, "end_pos": 111, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "215086653", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S111", "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" } ] }, { "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"" }, { "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": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95069", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95069" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95069", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95069" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069" } ], "common_name": "Human" } ], "gene": [ { "name": "KCNK2", "url": "https://www.uniprot.org/uniprot/O95069", "locus": { "chromosome": "1", "start_pos": 215237090, "end_pos": 215005775, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000082482", "url": "https://www.ensembl.org/id/ENSG00000082482" } ] } } ], "crossref": [ { "id": "ENSG00000082482", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000082482", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95069", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95069", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL2321615", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2321615", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "KCNK2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3776", "url": "https://www.ncbi.nlm.nih.gov/gene/3776", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6277", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR003280", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003280", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003976", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003976", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013099", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013099", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3776", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3776", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603219", "url": "http://www.omim.org/entry/603219", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95069", "url": "https://www.nextprot.org/entry/NX_O95069", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95069", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95069", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MTPCKRT", "url": "https://omabrowser.org/oma/group/MTPCKRT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "600333at2759", "url": "http://www.orthodb.org/?query=600333at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11003", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11003:SF21", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003:SF21", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4TWK", "url": "https://www.rcsb.org/structure/4TWK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07885", "url": "http://pfam.xfam.org/family/PF07885", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95069", "url": "https://pharos.nih.gov/targets/O95069", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95069", "url": "http://purl.obolibrary.org/obo/PR_O95069", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1299503", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299503", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B4DGU6", "url": "https://www.uniprot.org/uniprot/B4DGU6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DGU6-1", "url": "https://www.uniprot.org/uniprot/B4DGU6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDK1", "url": "https://www.uniprot.org/uniprot/C9JDK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JDK1-1", "url": "https://www.uniprot.org/uniprot/C9JDK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXY2", "url": "https://www.uniprot.org/uniprot/C9JXY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXY2-1", "url": "https://www.uniprot.org/uniprot/C9JXY2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDE6", "url": "https://www.uniprot.org/uniprot/F8WDE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDE6-1", "url": "https://www.uniprot.org/uniprot/F8WDE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95069-1", "url": "https://www.uniprot.org/uniprot/O95069-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95069-2", "url": "https://www.uniprot.org/uniprot/O95069-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95069-3", "url": "https://www.uniprot.org/uniprot/O95069-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95069-4", "url": "https://www.uniprot.org/uniprot/O95069-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZW95", "url": "https://www.uniprot.org/uniprot/Q6ZW95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZW95-1", "url": "https://www.uniprot.org/uniprot/Q6ZW95-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLPSASRERPGYRAGVAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIKWNVSQTKIRIISTIIFILFGCVLFVALPAIIFKHIEGWSALDAIYFVVITLTTIGFGDYVAGGSDIEYLDFYKPVVWFWILVGLAYFAAVLSMIGDWLRVISKKTKEEVGEFRAHAAEWTANVTAEFKETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQELTPCRRTLSVNHLTSERDVLPPLLKTESIYLNGLTPHCAGEEIAVIENIK", "length": 426, "header": "sp|O95069-1|KCNK2_HUMAN Isoform 1 of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=2 CANONICAL=O95069-1" }, "isoforms": [ { "isoform_ac": "B4DGU6-1", "url": "", "sequence": { "sequence": "MLPSASRERPGYRAGVAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQDLETSHHAQKAAKYSVSSMPYWEFPSLVFSWLELEIS", "length": 156, "header": "tr|B4DGU6-1|B4DGU6_HUMAN Computationally mapped isoform of cDNA FLJ58876, highly similar to Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=2 SV=1 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215169309, "end_pos": 215083386, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000470177.5", "url": "https://www.ensembl.org/id/ENST00000470177.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419633.1", "url": "https://www.ensembl.org/id/ENSP00000419633.1" } ] } }, { "isoform_ac": "C9JDK1-1", "url": "", "sequence": { "sequence": "MKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFC", "length": 118, "header": "tr|C9JDK1-1|KCNK2_HUMAN Computationally mapped isoform of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=1 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215169245, "end_pos": 215086490, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478774.5", "url": "https://www.ensembl.org/id/ENST00000478774.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420569.1", "url": "https://www.ensembl.org/id/ENSP00000420569.1" } ] } }, { "isoform_ac": "C9JXY2-1", "url": "", "sequence": { "sequence": "MKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALL", "length": 124, "header": "tr|C9JXY2-1|KCNK2_HUMAN Computationally mapped isoform of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=8 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215169263, "end_pos": 215086490, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457122.1", "url": "https://www.ensembl.org/id/ENST00000457122.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413460.1", "url": "https://www.ensembl.org/id/ENSP00000413460.1" } ] } }, { "isoform_ac": "F8WDE6-1", "url": "", "sequence": { "sequence": "MAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIVDPILNIWTSISLSCGSGSL", "length": 217, "header": "tr|F8WDE6-1|KCNK2_HUMAN Computationally mapped isoform of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=1 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215195012, "end_pos": 215083307, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474771.5", "url": "https://www.ensembl.org/id/ENST00000474771.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420499.1", "url": "https://www.ensembl.org/id/ENSP00000420499.1" } ] } }, { "isoform_ac": "O95069-1", "url": "", "sequence": { "sequence": "MLPSASRERPGYRAGVAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIKWNVSQTKIRIISTIIFILFGCVLFVALPAIIFKHIEGWSALDAIYFVVITLTTIGFGDYVAGGSDIEYLDFYKPVVWFWILVGLAYFAAVLSMIGDWLRVISKKTKEEVGEFRAHAAEWTANVTAEFKETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQELTPCRRTLSVNHLTSERDVLPPLLKTESIYLNGLTPHCAGEEIAVIENIK", "length": 426, "header": "sp|O95069-1|KCNK2_HUMAN Isoform 1 of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=2 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215235142, "end_pos": 215083386, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444842.7", "url": "https://www.ensembl.org/id/ENST00000444842.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000394033.2", "url": "https://www.ensembl.org/id/ENSP00000394033.2" } ] } }, { "isoform_ac": "O95069-2", "url": "", "sequence": { "sequence": "MAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIKWNVSQTKIRIISTIIFILFGCVLFVALPAIIFKHIEGWSALDAIYFVVITLTTIGFGDYVAGGSDIEYLDFYKPVVWFWILVGLAYFAAVLSMIGDWLRVISKKTKEEVGEFRAHAAEWTANVTAEFKETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQELTPCRRTLSVNHLTSERDVLPPLLKTESIYLNGLTPHCAGEEIAVIENIK", "length": 411, "header": "sp|O95069-2|KCNK2_HUMAN Isoform 2 of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=2 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215235142, "end_pos": 215083307, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000391894.6", "url": "https://www.ensembl.org/id/ENST00000391894.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000375764.2", "url": "https://www.ensembl.org/id/ENSP00000375764.2" } ] } }, { "isoform_ac": "O95069-3", "url": "", "sequence": { "sequence": "MMNPRAKRDFYLAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIKWNVSQTKIRIISTIIFILFGCVLFVALPAIIFKHIEGWSALDAIYFVVITLTTIGFGDYVAGGSDIEYLDFYKPVVWFWILVGLAYFAAVLSMIGDWLRVISKKTKEEVGEFRAHAAEWTANVTAEFKETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQELTPCRRTLSVNHLTSERDVLPPLLKTESIYLNGLTPHCAGEEIAVIENIK", "length": 422, "header": "sp|O95069-3|KCNK2_HUMAN Isoform 3 of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=2 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215235142, "end_pos": 215005922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000391895.6", "url": "https://www.ensembl.org/id/ENST00000391895.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000375765.2", "url": "https://www.ensembl.org/id/ENSP00000375765.2" } ] } }, { "isoform_ac": "O95069-4", "url": "", "sequence": { "sequence": "MMNPRAKRDFYLAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFFAGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIVDPILNIWTSISLSCGSGSL", "length": 228, "header": "sp|O95069-4|KCNK2_HUMAN Isoform 4 of Potassium channel subfamily K member 2 OS=Homo sapiens OX=9606 GN=KCNK2 PE=1 SV=2 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215195012, "end_pos": 215005922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467031.5", "url": "https://www.ensembl.org/id/ENST00000467031.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420203.1", "url": "https://www.ensembl.org/id/ENSP00000420203.1" } ] } }, { "isoform_ac": "Q6ZW95-1", "url": "", "sequence": { "sequence": "MMNPRAKRDFYLAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLIIGATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQDLETSHHAQKAAKYSVSSMPYWEFPSLVFSWLELEIS", "length": 152, "header": "tr|Q6ZW95-1|Q6ZW95_HUMAN Computationally mapped isoform of cDNA FLJ41415 fis, clone BRHIP2001805, moderately similar to Homo sapiens TREK-1 potassium channel (KCNK2) mRNA OS=Homo sapiens OX=9606 GN=KCNK2 PE=2 SV=1 CANONICAL=O95069-1" }, "locus": { "chromosome": "1", "start_pos": 215169309, "end_pos": 215005922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000486921.5", "url": "https://www.ensembl.org/id/ENST00000486921.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418706.1", "url": "https://www.ensembl.org/id/ENSP00000418706.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 110, "start_aa": "Asn", "end_pos": 110, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "O95069", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95069#ptm_processing" }, { "id": "4TWK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4TWK" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 134, "start_aa": "Asn", "end_pos": 134, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "O95069", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95069#ptm_processing" }, { "id": "4TWK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4TWK" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 156, "start_aa": "Thr", "end_pos": 156, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr156", "evidence": [ { "id": "O95069", "database": 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"glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Inhalational anesthetics activate two-pore-domain background K+ channels.", "journal": "Nat. Neurosci.", "date": "1999", "authors": "Patel AJ, Honore E, Lesage F, Fink M, Romey G, Lazdunski M", "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069" } ], "reference": [ { "type": "PubMed", "id": "10321245", "url": "https://glygen.org/publication/PubMed/10321245" } ] }, { "title": "Cloning, localisation and functional expression of the human orthologue of the TREK-1 potassium channel.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2000-04", "authors": "Meadows H J, Benham C D, Cairns W, Gloger I, Jennings C, Medhurst A D, Murdock P, Chapman C G", "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069" } ], "reference": [ { "type": "PubMed", "id": "10784345", "url": "https://glygen.org/publication/PubMed/10784345" } ] }, { "title": "Beam me up, Scottie! TREK channels swing both ways.", "journal": "Nature neuroscience", "date": "2001", "authors": "Maylie J, Adelman JP", "evidence": [ { "database": "iPTMnet", "id": "O95069-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95069-1" } ], "reference": [ { "type": "PubMed", "id": "11319549", "url": "https://glygen.org/publication/PubMed/11319549" } ] }, { "title": "KCNK2: reversible conversion of a hippocampal potassium leak into a voltage-dependent channel.", "journal": "Nature neuroscience", "date": "2001", "authors": "Bockenhauer D, Zilberberg N, Goldstein SA", "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069" }, { "database": "iPTMnet", "id": "O95069", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95069" } ], "reference": [ { "type": "PubMed", "id": "11319556", "url": "https://glygen.org/publication/PubMed/11319556" } ] }, { "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": "Sequential phosphorylation mediates receptor- and kinase-induced inhibition of TREK-1 background potassium channels.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Murbartian J, Lei Q, Sando JJ, Bayliss DA", "evidence": [ { "database": "iPTMnet", "id": "O95069-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95069-1" } ], "reference": [ { "type": "PubMed", "id": "16006563", "url": "https://glygen.org/publication/PubMed/16006563" } ] }, { "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": "Modulation of O(2) sensitive K (+) channels by AMP-activated protein kinase.", "journal": "Advances in experimental medicine and biology", "date": "2009", "authors": "Dallas ML, Scragg JL, Wyatt CN, Ross F, Hardie DG, Evans AM, Peers C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1299503", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299503" } ], "reference": [ { "type": "PubMed", "id": "19536465", "url": "https://glygen.org/publication/PubMed/19536465" } ] }, { "title": "Inhibition of human two-pore domain K+ channel TREK1 by local anesthetic lidocaine: negative cooperativity and half-of-sites saturation kinetics.", "journal": "Molecular pharmacology", "date": "2009", "authors": "Nayak TK, Harinath S, Nama S, Somasundaram K, Sikdar SK", "evidence": [ { "database": "iPTMnet", "id": "O95069", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95069" } ], "reference": [ { "type": "PubMed", "id": "19622790", "url": "https://glygen.org/publication/PubMed/19622790" } ] }, { "title": "AMP-activated protein kinase inhibits TREK channels.", "journal": "The Journal of physiology", "date": "2009", "authors": "Kreneisz O, Benoit JP, Bayliss DA, Mulkey DK", "evidence": [ { "database": "Reactome", "id": "R-HSA-1299503", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299503" } ], "reference": [ { "type": "PubMed", "id": "19840997", "url": "https://glygen.org/publication/PubMed/19840997" } ] }, { "title": "Task2 potassium channels set central respiratory CO2 and O2 sensitivity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Gestreau C, Heitzmann D, Thomas J, Dubreuil V, Bandulik S, Reichold M, Bendahhou S, Pierson P, Sterner C, Peyronnet-Roux J, Benfriha C, Tegtmeier I, Ehnes H, Georgieff M, Lesage F, Brunet JF, Goridis C, Warth R, Barhanin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1299503", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299503" } ], "reference": [ { "type": "PubMed", "id": "20133877", "url": 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Clin. Invest.", "date": "2016", "authors": "Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinne S, Froese A, Nikolaev VO, Grunert C, Muller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A", "evidence": [ { "database": "UniProtKB", "id": "O95069", "url": "https://www.uniprot.org/uniprot/O95069" } ], "reference": [ { "type": "PubMed", "id": "26642364", "url": "https://glygen.org/publication/PubMed/26642364" } ] }, { "title": "Involvement of TREK1 channels in the proliferation of human hepatic stellate LX-2 cells.", "journal": "Journal of pharmacological sciences", "date": "2022", "authors": "Kondo R, Deguchi A, Kawata N, Suzuki Y, Yamamura H", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" } ], "reference": [ { "type": "PubMed", "id": "35177207", "url": "https://glygen.org/publication/PubMed/35177207" } ] }, { "title": "Activation of TREK-1 (K2P2.1) Potassium Channels Protects Against Influenza A-Induced Lung Injury.", "journal": "American journal of physiology. Lung cellular and molecular physiology", "date": "2022-11-21", "authors": "Zyrianova Tatiana, Lopez Benjamin, Zou Kathlyn, Gu Charles, Pham Dayna, Talapaneni Sriharsha, Waters Christopher M, Olcese Riccardo, Schwingshackl Andreas", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" } ], "reference": [ { "type": "PubMed", "id": "36410022", "url": "https://glygen.org/publication/PubMed/36410022" } ] }, { "title": "High glucose induced HIF-1\u03b1/TREK1 expression and myometrium relaxation during pregnancy.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Li Tengteng, Fei Jiajia, Yu Huihui, Wang Xingxing, Bai Jingjing, Chen Fucai, Li Dan, Yin Zongzhi", "evidence": [ { "database": "RefSeq", "id": "NP_001017424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017424" } ], "reference": [ { "type": "PubMed", "id": "36909311", "url": "https://glygen.org/publication/PubMed/36909311" } ] }, { "title": 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