{ "uniprot_canonical_ac": "Q9NYG8-1", "uniprot_ac": "Q9NYG8", "uniprot_id": "KCNK4_HUMAN", "mass": { "chemical_mass": 42704.0, "monoisotopic_mass": 42704.0 }, "refseq": { "ac": "NP_001304019", "name": "potassium channel subfamily K member 4 precursor", "summary": "This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, "gene_names": [ { "name": "KCNK4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NYG8", "id": "Q9NYG8" }, { "name": "FHEIG; K2p4.1; TRAAK; TRAAK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019", "id": "NP_001304019" }, { "name": "KCNK4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019", "id": "NP_001304019" }, { "name": "TRAAK", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NYG8", "id": "Q9NYG8" } ], "protein_names": [ { "name": "Potassium channel subfamily K member 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NYG8" }, { "name": "TRAAK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NYG8" }, { "name": "TWIK-related arachidonic acid-stimulated potassium channel protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NYG8" }, { "name": "Two pore K(+) channel KT4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NYG8" }, { "name": "Two pore potassium channel KT4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NYG8" }, { "name": "potassium channel subfamily K member 4 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019", "id": "NP_001304019" }, { "name": "two pore K+ channel KT4.1; TWIK-related arachidonic acid-stimulated potassium channel protein; K2P4.1 potassium channel; two pore K(+) channel KT4.1; two pore potassium channel KT4.1; potassium channel, subfamily K, member 4; potassium channel, two pore domain subfamily K, member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019", "id": "NP_001304019" } ], "function": [ { "annotation": "Crystal structure of TRAAK at 3.8 angstroms resolution; channel comprises 2 protomers that create 2-fold symmetric K(+) channel; extracellular surface has a helical cap; 2 diagonally opposed gate-forming inner helices form membrane-interacting structures", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, { "database": "PubMed", "id": "22282805", "url": "https://glygen.org/publication/PubMed/22282805" } ] }, { "annotation": "Human TASK-3 was cloned and expressed; protein sequence and activity compared to similar two pore domain potassium channels, including KCNK4 (TRAAK).", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, { "database": "PubMed", "id": "11042359", "url": "https://glygen.org/publication/PubMed/11042359" } ] }, { "annotation": "Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK.", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, { "database": "PubMed", "id": "34390650", "url": "https://glygen.org/publication/PubMed/34390650" } ] }, { "annotation": "Selective regulation of human TRAAK channels by biologically active phospholipids.", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, { "database": "PubMed", "id": "32989299", "url": "https://glygen.org/publication/PubMed/32989299" } ] }, { "annotation": "Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, { "database": "PubMed", "id": "33594261", "url": "https://glygen.org/publication/PubMed/33594261" } ] }, { "annotation": "TRAAK, TREK1 and TREK2 are robustly mechanosensitive K+-selective channels of the K2P family and are modulated by chemical and physical stimuli including lipids, lysolipids, arachidonic acid and other polyunsaturated fatty acids.", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" }, { "database": "PubMed", "id": "31542828", "url": "https://glygen.org/publication/PubMed/31542828" } ] }, { "annotation": "This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ] }, { "annotation": "Voltage-insensitive potassium channel (PubMed:22282805). Channel opening is triggered by mechanical forces that deform the membrane (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:30290154). Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8#function" }, { "database": "UniProtKB", "id": "G3V8V5", "url": "https://www.uniprot.org/uniprot/G3V8V5#function" }, { "database": "PubMed", "id": "25471887", "url": "https://glygen.org/publication/PubMed/25471887" }, { "database": "PubMed", "id": "22282805", "url": "https://glygen.org/publication/PubMed/22282805" }, { "database": "UniProtKB", "id": "O88454", "url": "https://www.uniprot.org/uniprot/O88454#function" }, { "database": "PubMed", "id": "25500157", "url": "https://glygen.org/publication/PubMed/25500157" }, { "database": "PubMed", "id": "30290154", "url": "https://glygen.org/publication/PubMed/30290154" } ] } ], "disease": [ { "disease_id": "MONDO:0032714", "recommended_name": { "id": "MONDO:0032714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032714", "name": "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0032714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032714", "name": "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME", "description": "" }, { "id": "MONDO:0032714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032714", "name": "FHEIG", "description": "" }, { "id": "MIM:618381", "resource": "MIM", "url": "https://www.omim.org/entry/618381", "name": "Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome", "description": "Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome" } ], "evidence": [ { "id": "618381", "database": "MIM", "url": "https://www.omim.org/entry/618381" } ] } ], "snv": [ { "evidence": [ { "id": "rs930437702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930437702" }, { "id": "rs930437702", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs930437702" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 101, "end_pos": 101, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ITT->NTT).", "chr_id": "11", "chr_pos": "64296990", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750358920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750358920" }, { "id": "rs750358920", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750358920" }, { "id": "rs750358920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750358920" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 110, "end_pos": 110, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "11", "chr_pos": "64297133", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NYG8", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NYG8" } ], "glycoeffect": [], "start_pos": 147, "end_pos": 147, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "64297245", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R147", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "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: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:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "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 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"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, 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"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": "Q9NYG8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NYG8" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9NYG8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NYG8" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NYG8" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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Isoform 1 of Potassium channel subfamily K member 4 OS=Homo sapiens OX=9606 GN=KCNK4 PE=1 SV=2 CANONICAL=Q9NYG8-1" }, "isoforms": [ { "isoform_ac": "F5GYE0-1", "url": "", "sequence": { "sequence": "MPWEGVRTQKPTRPATAATQPGTWAAPSFSQGPSSPPSAMAMWPCAQMPGASSASFMRWWGFRCLGSYWQGSGTGWAPPCAMASVTLKPSSCDAYHRGLWRLCGRRGPQAGLPGLSAAGVVLDPARPGLLRLSAHHHRELAASSVPPHSGRDGRPHGSGCQLDWHGDSARDPASRARRPAAGEGAATAASTALSSAAAGQAPIPFAPREGSAAFPAHGLGPGLSQREPGLHRRVLGYAERARLPAAPRAERSPPPKSPQEARAAPRPRASPRQRRAGVGAGSLAGPLKGFVSALPGMPGLFDQRALFPRD", "length": 310, "header": "tr|F5GYE0-1|F5GYE0_HUMAN Computationally mapped isoform of Potassium two pore domain channel subfamily K member 4 OS=Homo sapiens OX=9606 GN=KCNK4 PE=4 SV=1 CANONICAL=Q9NYG8-1" }, "locus": { "chromosome": "11", "start_pos": 64299821, "end_pos": 64296888, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538767.1", "url": "https://www.ensembl.org/id/ENST00000538767.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446454.1", "url": "https://www.ensembl.org/id/ENSP00000446454.1" } ] } }, { "isoform_ac": "F5GZ20-1", "url": "", "sequence": { "sequence": "MTTAPQEPPARPLQAGSGAGPAPGRAMRSTTLLALLALVLLYLVSGALVFRALEQPHEQQAQRELGEVREKFLRAHPCVSDQELGLLIKEVADALGGGADPETNSTSNSSHSAWDLGSAFFFSGTIITTIGYGNVALRTDAGRLFCIFYALVGIPLFGILLAGVGDRLGSSLRHGIGHIEAIFL", "length": 184, "header": "tr|F5GZ20-1|F5GZ20_HUMAN Computationally mapped isoform of Potassium two pore domain channel subfamily K member 4 OS=Homo sapiens OX=9606 GN=KCNK4 PE=1 SV=2 CANONICAL=Q9NYG8-1" }, "locus": { "chromosome": "11", "start_pos": 64297279, "end_pos": 64291785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541349.5", "url": "https://www.ensembl.org/id/ENST00000541349.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441460.2", "url": "https://www.ensembl.org/id/ENSP00000441460.2" } ] } }, { "isoform_ac": "Q9NYG8-1", "url": "", "sequence": { "sequence": "MRSTTLLALLALVLLYLVSGALVFRALEQPHEQQAQRELGEVREKFLRAHPCVSDQELGLLIKEVADALGGGADPETNSTSNSSHSAWDLGSAFFFSGTIITTIGYGNVALRTDAGRLFCIFYALVGIPLFGILLAGVGDRLGSSLRHGIGHIEAIFLKWHVPPELVRVLSAMLFLLIGCLLFVLTPTFVFCYMEDWSKLEAIYFVIVTLTTVGFGDYVAGADPRQDSPAYQPLVWFWILLGLAYFASVLTTIGNWLRVVSRRTRAEMGGLTAQAASWTGTVTARVTQRAGPAAPPPEKEQPLLPPPPCPAQPLGRPRSPSPPEKAQPPSPPTASALDYPSENLAFIDESSDTQSERGCPLPRAPRGRRRPNPPRKPVRPRGPGRPRDKGVPV", "length": 393, "header": "sp|Q9NYG8-1|KCNK4_HUMAN Isoform 1 of Potassium channel subfamily K member 4 OS=Homo sapiens OX=9606 GN=KCNK4 PE=1 SV=2 CANONICAL=Q9NYG8-1" }, "locus": { "chromosome": "11", "start_pos": 64299723, "end_pos": 64293019, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394525.6", "url": "https://www.ensembl.org/id/ENST00000394525.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000378033.2", "url": "https://www.ensembl.org/id/ENSP00000378033.2" } ] } }, { "isoform_ac": "Q9NYG8-2", "url": "", "sequence": { "sequence": "MTTAPQEPPARPLQAGSGAGPAPGRAMRSTTLLALLALVLLYLVSGALVFRALEQPHEQQAQRELGEVREKFLRAHPCVSDQELGLLIKEVADALGGGADPETNSTSNSSHSAWDLGSAFFFSGTIITTIGYGNVALRTDAGRLFCIFYALVGIPLFGILLAGVGDRLGSSLRHGIGHIEAIFLKWHVPPELVRVLSAMLFLLIGCLLFVLTPTFVFCYMEDWSKLEAIYFVIVTLTTVGFGDYVAGADPRQDSPAYQPLVWFWILLGLAYFASVLTTIGNWLRVVSRRTRAEMGGLTAQAASWTGTVTARVTQRAGPAAPPPEKEQPLLPPPPCPAQPLGRPRSPSPPEKAQPPSPPTASALDYPSENLAFIDESSDTQSERGCPLPRAPRGRRRPNPPRKPVRPRGPGRPRDKGVPV", "length": 419, "header": "sp|Q9NYG8-2|KCNK4_HUMAN Isoform 2 of Potassium channel subfamily K member 4 OS=Homo sapiens OX=9606 GN=KCNK4 PE=1 SV=2 CANONICAL=Q9NYG8-1" }, "locus": { "chromosome": "11", "start_pos": 64299723, "end_pos": 64291785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696753.1", "url": "https://www.ensembl.org/id/ENST00000696753.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512851.1", "url": "https://www.ensembl.org/id/ENSP00000512851.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 78, "start_aa": "Asn", "end_pos": 78, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "Q9NYG8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYG8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 82, "start_aa": "Asn", "end_pos": 82, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn82", "evidence": [ { "id": "Q9NYG8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYG8#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Cloning and expression of human TRAAK, a polyunsaturated fatty acids-activated and mechano-sensitive K(+) channel.", "journal": "FEBS Lett.", "date": "2000", "authors": "Lazdunski M., Lesage F., Maingret F.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "10767409", "url": "https://glygen.org/publication/PubMed/10767409" } ] }, { "title": "Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel.", "journal": "Brain Res. Mol. Brain Res.", "date": "2000", "authors": "Chapman CG, Meadows HJ, Godden RJ, Campbell DA, Duckworth M, Kelsell RE, Murdock PR, Randall AD, Rennie GI, Gloger IS", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" }, { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ], "reference": [ { "type": "PubMed", "id": "11042359", "url": "https://glygen.org/publication/PubMed/11042359" } ] }, { "title": "Cloning of two transcripts, HKT4.1a and HKT4.1b, from the human two-pore K+ channel gene KCNK4. Chromosomal localization, tissue distribution and functional expression.", "journal": "Brain Res. Mol. Brain Res.", "date": "2002", "authors": "Ozaita A., Vega-Saenz de Miera E.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "12191490", "url": "https://glygen.org/publication/PubMed/12191490" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Brenner S.E., Green R.E., Hillman R.T.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "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": "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": "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": "https://glygen.org/publication/PubMed/20133877" } ] }, { "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": "Protein kinase G dynamically modulates TASK1-mediated leak K+ currents in cholinergic neurons of the basal forebrain.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2010", "authors": "Toyoda H, Saito M, Okazawa M, Hirao K, Sato H, Abe H, Takada K, Funabiki K, Takada M, Kaneko T, Kang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1299503", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299503" } ], "reference": [ { "type": "PubMed", "id": "20410120", "url": "https://glygen.org/publication/PubMed/20410120" } ] }, { "title": "Crystal structure of the human K2P TRAAK, a lipid- and mechano-sensitive K+ ion channel.", "journal": "Science", "date": "2012", "authors": "Brohawn SG, del Marmol J, MacKinnon R", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" }, { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ], "reference": [ { "type": "PubMed", "id": "22282805", "url": "https://glygen.org/publication/PubMed/22282805" } ] }, { "title": "Domain-swapped chain connectivity and gated membrane access in a Fab-mediated crystal of the human TRAAK K+ channel.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2013", "authors": "Brohawn SG, Campbell EB, MacKinnon R", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "23341632", "url": "https://glygen.org/publication/PubMed/23341632" } ] }, { "title": "Physical mechanism for gating and mechanosensitivity of the human TRAAK K+ channel.", "journal": "Nature", "date": "2014", "authors": "Brohawn SG, Campbell EB, MacKinnon R", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "25471887", "url": "https://glygen.org/publication/PubMed/25471887" } ] }, { "title": "Transmembrane helix straightening and buckling underlies activation of mechanosensitive and thermosensitive K(2P) channels.", "journal": "Neuron", "date": "2014", "authors": "Lolicato M, Riegelhaupt PM, Arrigoni C, Clark KA, Minor DL Jr", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "25500157", "url": "https://glygen.org/publication/PubMed/25500157" } ] }, { "title": "Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2018", "authors": "Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "reference": [ { "type": "PubMed", "id": "30290154", "url": "https://glygen.org/publication/PubMed/30290154" } ] }, { "title": "Decreased expression of TRAAK channels in Hirschsprung's disease: a possible cause of postoperative dysmotility.", "journal": "Pediatric surgery international", "date": "2019", "authors": "O'Donnell AM, Nakamura H, Parekh B, Puri P", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ], "reference": [ { "type": "PubMed", "id": "31542828", "url": "https://glygen.org/publication/PubMed/31542828" } ] }, { "title": "Selective regulation of human TRAAK channels by biologically active phospholipids.", "journal": "Nature chemical biology", "date": "2021", "authors": "Schrecke S, Zhu Y, McCabe JW, Bartz M, Packianathan C, Zhao M, Zhou M, Russell D, Laganowsky A", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ], "reference": [ { "type": "PubMed", "id": "32989299", "url": "https://glygen.org/publication/PubMed/32989299" } ] }, { "title": "Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.", "journal": "European journal of human genetics : EJHG", "date": "2021", "authors": "Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ], "reference": [ { "type": "PubMed", "id": "33594261", "url": "https://glygen.org/publication/PubMed/33594261" } ] }, { "title": "Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK.", "journal": "Neuron", "date": "2021", "authors": "Rietmeijer RA, Sorum B, Li B, Brohawn SG", "evidence": [ { "database": "RefSeq", "id": "NP_001304019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304019" } ], "reference": [ { "type": "PubMed", "id": "34390650", "url": "https://glygen.org/publication/PubMed/34390650" } ] } ], "pathway": [ { "id": "hsa:50801", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:50801", "resource": "KEGG Pathway" }, { "id": "R-HSA-1299503", "name": "TWIK related potassium channel (TREK)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299503", "resource": 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], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "outward rectifier potassium channel activity", "id": "GO:0015271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015271", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "pmid": "" }, { "name": "potassium ion leak channel activity", "id": "GO:0022841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022841", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "pmid": "" }, { "name": "temperature-gated cation channel activity", "id": "GO:0097604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097604", "evidence": [ { "database": "UniProtKB", "id": "Q9NYG8", "url": "https://www.uniprot.org/uniprot/Q9NYG8" } ], "pmid": "" }, { "name": "mechanosensitived potassium channel activity", "id": "GO:0098782", "url": 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