{ "uniprot_canonical_ac": "O43526-1", "uniprot_ac": "O43526", "uniprot_id": "KCNQ2_HUMAN", "mass": { "chemical_mass": 95848.0, "monoisotopic_mass": 95848.0 }, "refseq": { "ac": "NP_004509", "name": "potassium voltage-gated channel subfamily KQT member 2 isoform c", "summary": "The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" }, "gene_names": [ { "name": "KCNQ2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43526", "id": "O43526" }, { "name": "BFNC; DEE7; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509", "id": "NP_004509" }, { "name": "KCNQ2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509", "id": "NP_004509" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43526" }, { "name": "KQT-like 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43526" }, { "name": "Neuroblastoma-specific potassium channel subunit alpha KvLQT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43526" }, { "name": "Voltage-gated potassium channel subunit Kv7.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43526" }, { "name": "potassium voltage-gated channel subfamily KQT member 2 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509", "id": "NP_004509" }, { "name": "potassium voltage-gated channel subfamily KQT member 2; voltage-gated potassium channel subunit Kv7.2; neuroblastoma-specific potassium channel subunit alpha KvLQT2; potassium channel, voltage gated KQT-like subfamily Q, member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509", "id": "NP_004509" } ], "function": [ { "annotation": "Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10684873). KCNQ2-KCNQ3 channel is selectively permeable to other cations besides potassium, in decreasing order of affinity K(+) > Rb(+) > Cs(+) > Na(+). Associates with Na(+)-coupled myo-inositol symporter SLC5A3 forming a coregulatory complex that alters ion selectivity, increasing Na(+) and Cs(+) permeation relative to K(+) permeation.", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526#function" }, { "database": "PubMed", "id": "17872363", "url": "https://glygen.org/publication/PubMed/17872363" }, { "database": "PubMed", "id": "9836639", "url": "https://glygen.org/publication/PubMed/9836639" }, { "database": "PubMed", "id": "11572947", "url": "https://glygen.org/publication/PubMed/11572947" }, { "database": "PubMed", "id": "14534157", "url": "https://glygen.org/publication/PubMed/14534157" }, { "database": "PubMed", "id": "12742592", "url": "https://glygen.org/publication/PubMed/12742592" }, { "database": "PubMed", "id": "10684873", "url": "https://glygen.org/publication/PubMed/10684873" }, { "database": "PubMed", "id": "25740509", "url": "https://glygen.org/publication/PubMed/25740509" }, { "database": "PubMed", "id": "28793216", "url": "https://glygen.org/publication/PubMed/28793216" } ] }, { "annotation": "Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.", "evidence": [ { "database": "RefSeq", "id": "NP_004509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" }, { "database": "PubMed", "id": "36989566", "url": "https://glygen.org/publication/PubMed/36989566" } ] }, { "annotation": "Familial KCNQ2 mutation: a psychiatric perspective.", "evidence": [ { "database": "RefSeq", "id": "NP_004509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" }, { "database": "PubMed", "id": "38108335", "url": "https://glygen.org/publication/PubMed/38108335" } ] }, { "annotation": "Ligand activation mechanisms of human KCNQ2 channel. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" }, { "database": "PubMed", "id": "37857637", "url": "https://glygen.org/publication/PubMed/37857637" } ] }, { "annotation": "Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" }, { "database": "PubMed", "id": "36849527", "url": "https://glygen.org/publication/PubMed/36849527" } ] }, { "annotation": "Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers.", "evidence": [ { "database": "RefSeq", "id": "NP_004509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" }, { "database": "PubMed", "id": "38083766", "url": "https://glygen.org/publication/PubMed/38083766" } ] }, { "annotation": "The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004509" } ] } ], "disease": [ { "disease_id": "DOID:0080462", "recommended_name": { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "developmental and epileptic encephalopathy 7", "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13." }, "synonyms": [ { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "early infantile epileptic encephalopathy 7", "description": "" }, { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "KCNQ2-related epileptic encephalopathy", "description": "" }, { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "KCNQ2-related neonatal epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "developmental and epileptic encephalopathy, 7", "description": "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "DEE7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "EIEE7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-NEE", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-related epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-related neonatal epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "developmental and epileptic encephalopathy 7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "epileptic encephalopathy, early infantile, 7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "epileptic encephalopathy, early infantile, type 7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-related disorders", "description": "" }, { "id": "MIM:613720", "resource": "MIM", "url": "https://www.omim.org/entry/613720", "name": "Developmental and epileptic encephalopathy 7", "description": "Developmental and epileptic encephalopathy 7" } ], "evidence": [ { "id": "613720", "database": "MIM", "url": "https://www.omim.org/entry/613720" } ] }, { "disease_id": "DOID:14264", "recommended_name": { "id": "DOID:14264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14264", "name": "benign neonatal seizures", "description": "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion." }, "synonyms": [ { "id": "DOID:14264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14264", "name": "benign familial neonatal seizures", "description": "" }, { "id": "DOID:14264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14264", "name": "benign neonatal convulsions", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "seizures, benign familial neonatal, 1", "description": "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene." }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "myokymia", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "KCNQ2 benign neonatal seizures", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "benign neonatal seizures caused by mutation in KCNQ2", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "seizures, benign familial neonatal, 1", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "seizures, benign familial neonatal, type 1", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "seizures, benign neonatal, 1", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "BFNS1", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "epilepsy, benign neonatal, 1, and/or myokymia", "description": "" }, { "id": "MONDO:0007365", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007365", "name": "seizures, benign familial neonatal, 1, and/or myokymia", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "seizures, benign familial neonatal, 2", "description": "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "KCNQ3 benign neonatal seizures", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "benign neonatal seizures caused by mutation in KCNQ3", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "seizures, benign familial neonatal, 2", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "seizures, benign familial neonatal, type 2", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "seizures, benign neonatal, 2", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "BFNS2", "description": "" }, { "id": "MONDO:0007366", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007366", "name": "convulsions, benign familial neonatal, 2", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "seizures, benign familial neonatal, autosomal recessive", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "seizures, benign familial neonatal, autosomal recessive", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "Bfns, autosomal recessive", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "autosomal dominant form of benign neonatal seizures", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "convulsions benign familial neonatal dominant form", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "convulsions, benign familial neonatal, autosomal recessive", "description": "" }, { "id": "MONDO:0010021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010021", "name": "epilepsy, benign familial neonatal, autosomal recessive", "description": "" }, { "id": "MIM:121200", "resource": "MIM", "url": "https://www.omim.org/entry/121200", "name": "Seizures, benign familial neonatal 1", "description": "Seizures, benign familial neonatal 1" }, { "id": "MIM:121201", "resource": "MIM", "url": "https://www.omim.org/entry/121201", "name": "Seizures, benign familial neonatal 2", "description": "Seizures, benign familial neonatal 2" } ], "evidence": [ { "id": "121200", "database": "MIM", "url": "https://www.omim.org/entry/121200" } ] } ], "snv": [ { "evidence": [ { "id": "O43526", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43526" }, { "id": "rs1176290657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176290657" }, { "id": "rs1176290657", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176290657" }, { "id": "rs1176290657", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176290657#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 785, "end_pos": 785, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); n-glyco-sequon-gain (DTS->NTS).", "chr_id": "20", "chr_pos": "63406910", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D785", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal 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 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs868153686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868153686" }, { "id": "rs868153686", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868153686" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "20", "chr_pos": "63446774", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1057519535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519535" }, { "id": "rs1057519535", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1057519535" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 291, "end_pos": 291, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "20", "chr_pos": "63439652", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R291", "disease": [ { "disease_id": "DOID:0080462", "recommended_name": { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "developmental and epileptic encephalopathy 7", "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13." }, "synonyms": [ { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "early infantile epileptic encephalopathy 7", "description": "" }, { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "KCNQ2-related epileptic encephalopathy", "description": "" }, { "id": "DOID:0080462", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080462", "name": "KCNQ2-related neonatal epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "developmental and epileptic encephalopathy, 7", "description": "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "DEE7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "EIEE7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-NEE", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-related epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-related neonatal epileptic encephalopathy", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "developmental and epileptic encephalopathy 7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "epileptic encephalopathy, early infantile, 7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "epileptic encephalopathy, early infantile, type 7", "description": "" }, { "id": "MONDO:0013387", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013387", "name": "KCNQ2-related disorders", "description": "" }, { "id": "MIM:613720", "resource": "MIM", "url": "https://www.omim.org/entry/613720", "name": "Developmental and epileptic encephalopathy 7", "description": "Developmental and epileptic encephalopathy 7" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2081099327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081099327" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 296, "end_pos": 296, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFT->NFT).", "chr_id": "20", "chr_pos": "63439638", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43526", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43526" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 399, "end_pos": 399, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "20", "chr_pos": "63428388", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S399", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs562511859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562511859" }, { "id": "rs562511859", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs562511859" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "20", "chr_pos": "63415059", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.01957", "site_lbl": "S457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1175404002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175404002" }, { "id": "rs1175404002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175404002" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 457, "end_pos": 457, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "20", "chr_pos": "63415058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S457", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43526", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43526" }, { "id": "rs751907059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751907059" }, { "id": "rs751907059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751907059" }, { "id": "rs751907059", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751907059" }, { "id": "rs751907059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751907059#frequency_tab" }, { "id": "rs751907059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751907059" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 470, "end_pos": 470, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "20", "chr_pos": "63415020", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D470", "disease": [ { "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, 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Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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", 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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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43526", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43526" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43526" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://www.uniprot.org/uniprot/O43526-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43526-5", "url": "https://www.uniprot.org/uniprot/O43526-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43526-6", "url": "https://www.uniprot.org/uniprot/O43526-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4VXP6", "url": "https://www.uniprot.org/uniprot/Q4VXP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q4VXP6-1", "url": "https://www.uniprot.org/uniprot/Q4VXP6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSPCRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 872, "header": "sp|O43526-1|KCNQ2_HUMAN Isoform 1 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SEV1-1", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRIDMIVGPPPPSTPRHKKYPTKGPTAPPRESPQYSPRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLGRAPETRAGQEGSHGGVSH", "length": 754, "header": "tr|A0A0D9SEV1-1|A0A0D9SEV1_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63400787, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625514.2", "url": "https://www.ensembl.org/id/ENST00000625514.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486040.1", "url": "https://www.ensembl.org/id/ENSP00000486040.1" } ] } }, { "isoform_ac": "A0A0D9SF10-1", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRDGLQRHAQGRRGLTEGSRTEAPRAGGPAGRHPSARDPHGPRVPAMPAPHAIAVCHPLAVTVAAASPFAPLPLAVCTFVHAPKNIS", "length": 645, "header": "tr|A0A0D9SF10-1|A0A0D9SF10_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63400588, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629676.2", "url": "https://www.ensembl.org/id/ENST00000629676.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486194.1", "url": "https://www.ensembl.org/id/ENSP00000486194.1" } ] } }, { "isoform_ac": "A0A0D9SFE0-1", "url": "", "sequence": { "sequence": "TSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLPRVASGRPACPQGCEQALRVTRACGPTDHADHHWLRGQVPPDLERQAPCGNLHPHRCLLLRAACSSGAAQAEAL", "length": 153, "header": "tr|A0A0D9SFE0-1|A0A0D9SFE0_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=4 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 30891, "end_pos": 23945, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625248.1", "url": "https://www.ensembl.org/id/ENST00000625248.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000485872.1", "url": "https://www.ensembl.org/id/ENSP00000485872.1" } ] } }, { "isoform_ac": "A0A0D9SG49-1", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLGRAPETRAGQEGSHGGVSH", "length": 730, "header": "tr|A0A0D9SG49-1|A0A0D9SG49_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63400787, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629241.2", "url": "https://www.ensembl.org/id/ENST00000629241.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487142.1", "url": "https://www.ensembl.org/id/ENSP00000487142.1" } ] } }, { "isoform_ac": "A0A0D9SGD4-1", "url": "", "sequence": { "sequence": "RSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRQEPRLPVQQGTRTGWASGTKPTVAHGGSAGGVWAGPPPHPRRPLSASVVSSQSLF", "length": 179, "header": "tr|A0A0D9SGD4-1|KCNQ2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63415035, "end_pos": 63413284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629318.1", "url": "https://www.ensembl.org/id/ENST00000629318.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487384.1", "url": "https://www.ensembl.org/id/ENSP00000487384.1" } ] } }, { "isoform_ac": "A0A0D9SGG3-1", "url": "", "sequence": { "sequence": "XTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAV", "length": 229, "header": "tr|A0A0D9SGG3-1|A0A0D9SGG3_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63439668, "end_pos": 63414089, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627221.2", "url": "https://www.ensembl.org/id/ENST00000627221.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487469.1", "url": "https://www.ensembl.org/id/ENSP00000487469.1" } ] } }, { "isoform_ac": "A0A0D9SGJ7-1", "url": "", "sequence": { "sequence": "XRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQVSPGVPRGPAQPLSWSHLVEEWRPLGLWHCPVCGWATALTLCRNLWKERGCEVCVLRNGSNP", "length": 192, "header": "tr|A0A0D9SGJ7-1|A0A0D9SGJ7_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=4 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63444713, "end_pos": 63438437, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626684.1", "url": "https://www.ensembl.org/id/ENST00000626684.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487563.1", "url": "https://www.ensembl.org/id/ENSP00000487563.1" } ] } }, { "isoform_ac": "A0A0G2JH35-1", "url": "", "sequence": { "sequence": "IKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 728, "header": "tr|A0A0G2JH35-1|KCNQ2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63446791, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357249.6", "url": "https://www.ensembl.org/id/ENST00000357249.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000349789.3", "url": "https://www.ensembl.org/id/ENSP00000349789.3" } ] } }, { "isoform_ac": "A0A0G2JQC9-1", "url": "", "sequence": { "sequence": "XFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 380, "header": "tr|A0A0G2JQC9-1|A0A0G2JQC9_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33239, "end_pos": 183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626962.2", "url": "https://www.ensembl.org/id/ENST00000626962.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000485756.1", "url": "https://www.ensembl.org/id/ENSP00000485756.1" } ] } }, { "isoform_ac": "A0A0G2JQG6-1", "url": "", "sequence": { "sequence": "XFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 370, "header": "tr|A0A0G2JQG6-1|A0A0G2JQG6_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33239, "end_pos": 183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627416.2", "url": "https://www.ensembl.org/id/ENST00000627416.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000485832.1", "url": "https://www.ensembl.org/id/ENSP00000485832.1" } ] } }, { "isoform_ac": "A0A0G2JR54-1", "url": "", "sequence": { "sequence": "XFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSPCRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 410, "header": "tr|A0A0G2JR54-1|A0A0G2JR54_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33239, "end_pos": 183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627948.2", "url": "https://www.ensembl.org/id/ENST00000627948.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486451.1", "url": "https://www.ensembl.org/id/ENSP00000486451.1" } ] } }, { "isoform_ac": "A0A0G2JR60-1", "url": "", "sequence": { "sequence": "XFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRYRRRAPATKQLFHFLFSICS", "length": 295, "header": "tr|A0A0G2JR60-1|A0A0G2JR60_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33239, "end_pos": 19026, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630648.2", "url": "https://www.ensembl.org/id/ENST00000630648.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486464.1", "url": "https://www.ensembl.org/id/ENSP00000486464.1" } ] } }, { "isoform_ac": "A0A0G2JR98-1", "url": "", "sequence": { "sequence": "XTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 195, "header": "tr|A0A0G2JR98-1|KCNQ2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 24951, "end_pos": 183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628732.2", "url": "https://www.ensembl.org/id/ENST00000628732.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486557.1", "url": "https://www.ensembl.org/id/ENSP00000486557.1" } ] } }, { "isoform_ac": "A0A0G2JRN9-1", "url": "", "sequence": { "sequence": "XFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 382, "header": "tr|A0A0G2JRN9-1|A0A0G2JRN9_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33239, "end_pos": 183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628544.2", "url": "https://www.ensembl.org/id/ENST00000628544.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486636.1", "url": "https://www.ensembl.org/id/ENSP00000486636.1" } ] } }, { "isoform_ac": "A0A0G2JRU6-1", "url": "", "sequence": { "sequence": "XFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 392, "header": "tr|A0A0G2JRU6-1|KCNQ2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33239, "end_pos": 183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628790.2", "url": "https://www.ensembl.org/id/ENST00000628790.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487078.1", "url": "https://www.ensembl.org/id/ENSP00000487078.1" } ] } }, { "isoform_ac": "A0A0G2JS89-1", "url": "", "sequence": { "sequence": "RSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 44, "header": "tr|A0A0G2JS89-1|A0A0G2JS89_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 315, "end_pos": 184, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630933.1", "url": "https://www.ensembl.org/id/ENST00000630933.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487440.1", "url": "https://www.ensembl.org/id/ENSP00000487440.1" } ] } }, { "isoform_ac": "A0A0G2JSD3-1", "url": "", "sequence": { "sequence": "IKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSE", "length": 364, "header": "tr|A0A0G2JSD3-1|A0A0G2JSD3_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "HSCHR20_1_CTG4", "start_pos": 33193, "end_pos": 184, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629338.2", "url": "https://www.ensembl.org/id/ENST00000629338.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487545.1", "url": "https://www.ensembl.org/id/ENSP00000487545.1" } ] } }, { "isoform_ac": "A0A1B0GUK1-1", "url": "", "sequence": { "sequence": "XTAPPRESPQYSPRKKITPLAHPPPSHQRQSGPDRGAGPSDHGQGPHQGP", "length": 50, "header": "tr|A0A1B0GUK1-1|A0A1B0GUK1_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=4 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63411814, "end_pos": 63408476, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636614.1", "url": "https://www.ensembl.org/id/ENST00000636614.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490142.1", "url": "https://www.ensembl.org/id/ENSP00000490142.1" } ] } }, { "isoform_ac": "A0A1B0GW14-1", "url": "", "sequence": { "sequence": "MVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 671, "header": "tr|A0A1B0GW14-1|KCNQ2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63444829, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637193.1", "url": "https://www.ensembl.org/id/ENST00000637193.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490734.1", "url": "https://www.ensembl.org/id/ENSP00000490734.1" } ] } }, { "isoform_ac": "A0A9L9PXL0-1", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRIDMIVGPPPPSTPRHKKYPTKGPTAPPRESPQYSPRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 890, "header": "tr|A0A9L9PXL0-1|A0A9L9PXL0_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=1 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706989.1", "url": "https://www.ensembl.org/id/ENST00000706989.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516702.1", "url": "https://www.ensembl.org/id/ENSP00000516702.1" } ] } }, { "isoform_ac": "O43526-1", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSPCRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 872, "header": "sp|O43526-1|KCNQ2_HUMAN Isoform 1 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359125.7", "url": "https://www.ensembl.org/id/ENST00000359125.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000352035.2", "url": "https://www.ensembl.org/id/ENSP00000352035.2" } ] } }, { "isoform_ac": "O43526-2", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 854, "header": "sp|O43526-2|KCNQ2_HUMAN Isoform 2 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000626839.2", "url": "https://www.ensembl.org/id/ENST00000626839.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486706.1", "url": "https://www.ensembl.org/id/ENSP00000486706.1" } ] } }, { "isoform_ac": "O43526-3", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 844, "header": "sp|O43526-3|KCNQ2_HUMAN Isoform 3 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360480.7", "url": "https://www.ensembl.org/id/ENST00000360480.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000353668.3", "url": "https://www.ensembl.org/id/ENSP00000353668.3" } ] } }, { "isoform_ac": "O43526-4", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 841, "header": "sp|O43526-4|KCNQ2_HUMAN Isoform 4 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63406647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344462.8", "url": "https://www.ensembl.org/id/ENST00000344462.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000339611.4", "url": "https://www.ensembl.org/id/ENSP00000339611.4" } ] } }, { "isoform_ac": "O43526-5", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK", "length": 843, "header": "sp|O43526-5|KCNQ2_HUMAN Isoform 5 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": {} }, { "isoform_ac": "O43526-6", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRYRRRAPATKQLFHFLFSICS", "length": 393, "header": "sp|O43526-6|KCNQ2_HUMAN Isoform 6 of Potassium voltage-gated channel subfamily KQT member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63433748, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344425.8", "url": "https://www.ensembl.org/id/ENST00000344425.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000345523.5", "url": "https://www.ensembl.org/id/ENSP00000345523.5" } ] } }, { "isoform_ac": "Q4VXP6-1", "url": "", "sequence": { "sequence": "MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRIDMIVGPPPPSTPRHKKYPTKGPTAPPRESPQYSPRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLGRAPETRAGQEGSHGGVSH", "length": 766, "header": "tr|Q4VXP6-1|Q4VXP6_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 2 OS=Homo sapiens OX=9606 GN=KCNQ2 PE=1 SV=2 CANONICAL=O43526-1" }, "locus": { "chromosome": "20", "start_pos": 63472463, "end_pos": 63400787, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370224.5", "url": "https://www.ensembl.org/id/ENST00000370224.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000359244.2", "url": "https://www.ensembl.org/id/ENSP00000359244.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 457, "start_aa": "Ser", "end_pos": 457, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser457", "evidence": [ { "id": "O43526", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43526" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 217, "end_pos": 217, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" }, { "database": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" }, { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" } ], "site_lbl": "Thr217" }, { "start_pos": 466, "end_pos": 466, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser466" }, { "start_pos": 468, "end_pos": 468, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser468" }, { "start_pos": 472, "end_pos": 472, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser472" }, { "start_pos": 476, "end_pos": 476, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser476" }, { "start_pos": 478, "end_pos": 478, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser478" }, { "start_pos": 507, "end_pos": 507, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser507" }, { "start_pos": 52, "end_pos": 52, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" }, { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" }, { "database": "PubMed", "id": "9872318", "url": "https://glygen.org/publication/PubMed/9872318" } ], "site_lbl": "Ser52" }, { "start_pos": 551, "end_pos": 551, "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" }, { "database": "PubMed", "id": "12754513", "url": "https://glygen.org/publication/PubMed/12754513" } ], "site_lbl": "Ser551" }, { "start_pos": 558, "end_pos": 558, "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" }, { "database": "PubMed", "id": "12754513", "url": "https://glygen.org/publication/PubMed/12754513" } ], "site_lbl": "Ser558" }, { "start_pos": 672, "end_pos": 672, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser672" }, { "start_pos": 74, "end_pos": 74, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr74" }, { "start_pos": 801, "end_pos": 801, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser801" }, { "start_pos": 803, "end_pos": 803, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "site_lbl": "Ser803" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.", "journal": "Hum. Genet.", "date": "1999", "authors": "Biervert C, Steinlein O K", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10323247", "url": "https://glygen.org/publication/PubMed/10323247" } ] }, { "title": "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell.", "journal": "J. Neurosci.", "date": "1999", "authors": "Selyanko A A, Hadley J K, Wood I C, Abogadie F C, Delmas P, Buckley N J, London B, Brown D A", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10479678", "url": "https://glygen.org/publication/PubMed/10479678" } ] }, { "title": "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2000-03-01", "authors": "Shapiro M S, Roche J P, Kaftan E J, Cruzblanca H, Mackie K, Hille B", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10684873", "url": "https://glygen.org/publication/PubMed/10684873" } ] }, { "title": "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells transfected with human KCNQ2/3 subunits.", "journal": "Neurosci. Lett.", "date": "2000", "authors": "Rundfeldt C, Netzer R", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10713399", "url": "https://glygen.org/publication/PubMed/10713399" } ] }, { "title": "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.", "journal": "J. Physiol. (Lond.)", "date": "2000", "authors": "Selyanko AA, Hadley JK, Wood IC, Abogadie FC, Jentsch TJ, Brown DA", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10713961", "url": "https://glygen.org/publication/PubMed/10713961" } ] }, { "title": "Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Cooper E C, Aldape K D, Abosch A, Barbaro N M, Berger M S, Peacock W S, Jan Y N, Jan L Y", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10781098", "url": "https://glygen.org/publication/PubMed/10781098" } ] }, { "title": "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Schwake M, Pusch M, Kharkovets T, Jentsch T J", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10788442", "url": "https://glygen.org/publication/PubMed/10788442" } ] }, { "title": "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine.", "journal": "Mol. Pharmacol.", "date": "2000", "authors": "Main M J, Cryan J E, Dupere J R, Cox B, Clare J J, Burbidge S A", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10908292", "url": "https://glygen.org/publication/PubMed/10908292" } ] }, { "title": "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels.", "journal": "Mol. Pharmacol.", "date": "2000", "authors": "Wickenden A D, Yu W, Zou A, Jegla T, Wagoner P K", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "10953053", "url": "https://glygen.org/publication/PubMed/10953053" } ] }, { "title": "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit.", "journal": "FEBS Lett.", "date": "2000", "authors": "Tinel N, Diochot S, Lauritzen I, Barhanin J, Lazdunski M, Borsotto M", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "11034315", "url": "https://glygen.org/publication/PubMed/11034315" } ] }, { "title": "Differential expression of KCNQ2 splice variants: implications to M current function during neuronal development.", "journal": "J. Neurosci.", "date": "2001", "authors": "Smith J S, Iannotti C A, Dargis P, Christian E P, Aiyar J", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "11160379", "url": "https://glygen.org/publication/PubMed/11160379" } ] }, { "title": "Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.", "journal": "European journal of human genetics : EJHG", "date": "2000", "authors": "Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "11175290", "url": "https://glygen.org/publication/PubMed/11175290" } ] }, { "title": "Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2001", "authors": "Needham LK, Thelen K, Maness PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "11222639", "url": "https://glygen.org/publication/PubMed/11222639" } ] }, { "title": "Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "11572947", "url": "https://glygen.org/publication/PubMed/11572947" } ] }, { "title": "Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.", "journal": "Epilepsy research", "date": "2003", "authors": "Dedek K, Fusco L, Teloy N, Steinlein OK", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "12742592", "url": "https://glygen.org/publication/PubMed/12742592" } ] }, { "title": "AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.", "journal": "Nature neuroscience", "date": "2003", "authors": "Hoshi N, Zhang JS, Omaki M, Takeuchi T, Yokoyama S, Wanaverbecq N, Langeberg LK, Yoneda Y, Scott JD, Brown DA, Higashida H", "evidence": [ { "database": "iPTMnet", "id": "O43526-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526-1" } ], "reference": [ { "type": "PubMed", "id": "12754513", "url": "https://glygen.org/publication/PubMed/12754513" } ] }, { "title": "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.", "journal": "Brain : a journal of neurology", "date": "2003", "authors": "Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "14534157", "url": "https://glygen.org/publication/PubMed/14534157" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.", "journal": "Neurology", "date": "2004", "authors": "Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "15249611", "url": "https://glygen.org/publication/PubMed/15249611" } ] }, { "title": "Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Surti TS, Huang L, Jan YN, Jan LY, Cooper EC", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" }, { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" } ], "reference": [ { "type": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" } ] }, { "title": "MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growth.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Whittard JD, Sakurai T, Cassella MR, Gazdoiu M, Felsenfeld DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "16597699", "url": "https://glygen.org/publication/PubMed/16597699" } ] }, { "title": "Phosphorylation of L1-type cell-adhesion molecules--ankyrins away!", "journal": "Trends in biochemical sciences", "date": "2006", "authors": "Nagaraj K, Hortsch M", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "16904324", "url": "https://glygen.org/publication/PubMed/16904324" } ] }, { "title": "betaIV-spectrin forms a diffusion barrier against L1CAM at the axon initial segment.", "journal": "Molecular and cellular neurosciences", "date": "2007", "authors": "Nishimura K, Akiyama H, Komada M, Kamiguchi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-445095", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095" } ], "reference": [ { "type": "PubMed", "id": "17223356", "url": "https://glygen.org/publication/PubMed/17223356" } ] }, { "title": "Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.", "journal": "Neurology", "date": "2007", "authors": "Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "17872363", "url": "https://glygen.org/publication/PubMed/17872363" } ] }, { "title": "Ancillary subunits associated with voltage-dependent K+ channels.", "journal": "Physiological reviews", "date": "2010", "authors": "Pongs O, Schwarz JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296072" } ], "reference": [ { "type": "PubMed", "id": "20393197", "url": "https://glygen.org/publication/PubMed/20393197" } ] }, { "title": "Inhibition of the heterotetrameric K+ channel KCNQ1/KCNE1 by the AMP-activated protein kinase.", "journal": "Molecular membrane biology", "date": "2011", "authors": "Alesutan I, Foller M, Sopjani M, Dermaku-Sopjani M, Zelenak C, Frohlich H, Velic A, Fraser S, Kemp BE, Seebohm G, Volkl H, Lang F", "evidence": [ { "database": "Reactome", "id": "R-HSA-1296072", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296072" } ], "reference": [ { "type": "PubMed", "id": "21231794", "url": "https://glygen.org/publication/PubMed/21231794" } ] }, { "title": "Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic 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Brain localization and comparison with KCNQ3.", "journal": "FEBS Lett.", "date": "1998", "authors": "Tinel N, Lauritzen I, Chouabe C, Lazdunski M, Borsotto M", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "9827540", "url": "https://glygen.org/publication/PubMed/9827540" } ] }, { "title": "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, Dixon JE, McKinnon D", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "reference": [ { "type": "PubMed", "id": "9836639", "url": "https://glygen.org/publication/PubMed/9836639" } ] }, { "title": "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.", "journal": "Nature", "date": "1998", "authors": "Schroeder BC, Kubisch C, Stein V, Jentsch TJ", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" }, { "database": "iPTMnet", "id": "O43526", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43526" } ], "reference": [ { "type": "PubMed", "id": "9872318", "url": "https://glygen.org/publication/PubMed/9872318" } ] } ], "pathway": [ { "id": "hsa:3785", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3785", "resource": "KEGG Pathway" }, { "id": "R-HSA-1296072", "name": "Voltage gated Potassium channels", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296072", "resource": "Reactome", "description": "Voltage gated Potassium channels" }, { "id": "R-HSA-445095", "name": "Interaction between L1 and Ankyrins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445095", "resource": "Reactome", "description": "Interaction between L1 and Ankyrins" } ], "orthologs": [ { 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"MVQKSRNGGVYPGTSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSVLSKPRTGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMISSQTQTYGASRLIPPLNQLEMLRNLKSKSGLTFRKEPQPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLDDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVEDNKSCNCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPTITDKDRTKGPAETELPEDPSMMGRLGKVEKQVLSMEKKLDFLVSIYTQRMGIPPAETEAYFGAKEPEPAPPYHSPEDSRDHADKHGCIIKIVRSTSSTGQRKYAAPPVMPPAECPPSTSWQQSHQRHGTSPVGDHGSLVRIPPPPAHERSLSAYSGGNRASTEFLRLEGTPACRPSEAALRDSDTSISIPSVDHEELERSFSGFSISQSKENLNALASCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVAWAGPRK", "length": 852 }, "evidence": [ { "id": "45927929", "url": "http://www.informatics.jax.org/homology/45927929", "database": "MGI" } ], 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"length": 759 }, "evidence": [ { "id": "45927929", "url": "http://www.informatics.jax.org/homology/45927929", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", 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"GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 350, "end_pos": 352, "annotation": "n_glycosylation_sequon" }, { "start_pos": 700, "end_pos": 702, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338).", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" }, { "database": "PubMed", "id": "27445338", "url": "https://glygen.org/publication/PubMed/27445338" } ] }, { "annotation": "KCNQ2/KCNQ3 heteromeric current can be increased by intracellular cyclic AMP, an effect that depends on phosphorylation of Ser-52 in the N-terminal region.", "evidence": [ { "database": "UniProtKB", "id": "O43526", "url": "https://www.uniprot.org/uniprot/O43526" }, { "database": "PubMed", "id": "9872318", "url": "https://glygen.org/publication/PubMed/9872318" }, { "database": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 457 ], "snv_sites": [ 9, 120, 291, 296, 399, 457, 470, 483, 520, 531, 622, 693, 694, 707, 761, 767, 785 ], "glycation_sites": [], "phosphorylation_sites": [ 52, 74, 217, 466, 468, 472, 476, 478, 507, 551, 558, 672, 801, 803 ], "sequon_annotation_sites": [ { "start_pos": 350, "end_pos": 352 }, { "start_pos": 700, "end_pos": 702 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 50 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }