{ "uniprot_canonical_ac": "O43525-1", "uniprot_ac": "O43525", "uniprot_id": "KCNQ3_HUMAN", "mass": { "chemical_mass": 96742.0, "monoisotopic_mass": 96742.0 }, "refseq": { "ac": "NP_001191753", "name": "potassium voltage-gated channel subfamily KQT member 3 isoform 2 precursor", "summary": "This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753" }, "gene_names": [ { "name": "KCNQ3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43525", "id": "O43525" }, { "name": "BFNC2; EBN2; KV7.3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753", "id": "NP_001191753" }, { "name": "KCNQ3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753", "id": "NP_001191753" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily KQT member 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43525" }, { "name": "KQT-like 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43525" }, { "name": "Potassium channel subunit alpha KvLQT3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43525" }, { "name": "Voltage-gated potassium channel subunit Kv7.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43525" }, { "name": "potassium channel, voltage-gated, subfamily Q, member 3; potassium channel subunit alpha KvLQT3; voltage-gated potassium channel subunit Kv7.3; potassium voltage-gated channel, KQT-like subfamily, member 3; potassium channel, voltage gated KQT-like subfamily Q, member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753", "id": "NP_001191753" }, { "name": "potassium voltage-gated channel subfamily KQT member 3 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753", "id": "NP_001191753" } ], "function": [ { "annotation": "Associates with KCNQ2 or KCNQ5 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 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 (PubMed:28793216).", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525#function" }, { "database": "PubMed", "id": "9872318", "url": "https://glygen.org/publication/PubMed/9872318" }, { "database": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" }, { "database": "PubMed", "id": "11159685", "url": "https://glygen.org/publication/PubMed/11159685" }, { "database": "PubMed", "id": "14534157", "url": "https://glygen.org/publication/PubMed/14534157" }, { "database": "PubMed", "id": "28793216", "url": "https://glygen.org/publication/PubMed/28793216" } ] }, { "annotation": "Heteromeric Assembly of Truncated Neuronal Kv7 Channels: Implications for Neurologic Disease and Pharmacotherapy.", "evidence": [ { "database": "RefSeq", "id": "NP_001191753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753" }, { "database": "PubMed", "id": "32580997", "url": "https://glygen.org/publication/PubMed/32580997" } ] }, { "annotation": "Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.", "evidence": [ { "database": "RefSeq", "id": "NP_001191753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753" }, { "database": "PubMed", "id": "35384780", "url": "https://glygen.org/publication/PubMed/35384780" } ] }, { "annotation": "SMAD4 and KCNQ3 alterations are associated with lymph node metastases in oesophageal adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001191753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753" }, { "database": "PubMed", "id": "37648039", "url": "https://glygen.org/publication/PubMed/37648039" } ] }, { "annotation": "The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.", "evidence": [ { "database": "RefSeq", "id": "NP_001191753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753" }, { "database": "PubMed", "id": "33037390", "url": "https://glygen.org/publication/PubMed/33037390" } ] }, { "annotation": "This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001191753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191753" } ] } ], "disease": [ { "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": "121201", "database": "MIM", "url": "https://www.omim.org/entry/121201" } ] } ], "snv": [ { "evidence": [ { "id": "rs867066299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867066299" }, { "id": "rs867066299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867066299#frequency_tab" }, { "id": "rs867066299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867066299" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 102, "end_pos": 102, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNA->NNS).", "chr_id": "8", "chr_pos": "132480229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867066299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867066299" }, { "id": "rs867066299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs867066299#frequency_tab" }, { "id": "rs867066299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867066299" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 102, "end_pos": 102, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "8", "chr_pos": "132480229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs974274243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs974274243" }, { "id": "rs974274243", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs974274243#frequency_tab" }, { "id": "rs974274243", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs974274243" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TVS->NVS).", "chr_id": "8", "chr_pos": "132186119", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43525", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43525" } ], "glycoeffect": [], "start_pos": 230, "end_pos": 230, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "132180245", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R230", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer 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"name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43525" } ], "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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"MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASSQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPRNEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDTDTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI", "length": 872, "header": "sp|O43525-1|KCNQ3_HUMAN Isoform 1 of Potassium voltage-gated channel subfamily KQT member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=1 SV=2 CANONICAL=O43525-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PNZ2-1", "url": "", "sequence": { "sequence": "MVAQAWRTSMRKQREEACFRFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASRCHRRKSF", "length": 319, "header": "tr|A0A1W2PNZ2-1|A0A1W2PNZ2_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=4 SV=1 CANONICAL=O43525-1" }, "locus": { "chromosome": "8", "start_pos": 132321503, "end_pos": 132141221, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639496.1", "url": "https://www.ensembl.org/id/ENST00000639496.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491165.1", "url": "https://www.ensembl.org/id/ENSP00000491165.1" } ] } }, { "isoform_ac": "A0A1W2PQ71-1", "url": "", "sequence": { "sequence": "MVAQAWRTSMRKQREEACFRFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASSQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPRNEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSS", "length": 716, "header": "tr|A0A1W2PQ71-1|A0A1W2PQ71_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily Q member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=1 SV=1 CANONICAL=O43525-1" }, "locus": { "chromosome": "8", "start_pos": 132321503, "end_pos": 132129406, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638588.1", "url": "https://www.ensembl.org/id/ENST00000638588.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491940.1", "url": "https://www.ensembl.org/id/ENSP00000491940.1" } ] } }, { "isoform_ac": "A0A1W2PRN8-1", "url": "", "sequence": { "sequence": "XEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLTSLC", "length": 89, "header": "tr|A0A1W2PRN8-1|KCNQ3_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=1 SV=1 CANONICAL=O43525-1" }, "locus": { "chromosome": "8", "start_pos": 132480309, "end_pos": 132180317, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639358.1", "url": "https://www.ensembl.org/id/ENST00000639358.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492691.1", "url": "https://www.ensembl.org/id/ENSP00000492691.1" } ] } }, { "isoform_ac": "E7ET42-1", "url": "", "sequence": { "sequence": "MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASSQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGNEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDTDTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI", "length": 860, "header": "tr|E7ET42-1|KCNQ3_HUMAN Computationally mapped isoform of Potassium voltage-gated channel subfamily KQT member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=1 SV=1 CANONICAL=O43525-1" }, "locus": { "chromosome": "8", "start_pos": 132480532, "end_pos": 132129265, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519445.5", "url": "https://www.ensembl.org/id/ENST00000519445.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428790.1", "url": "https://www.ensembl.org/id/ENSP00000428790.1" } ] } }, { "isoform_ac": "O43525-1", "url": "", "sequence": { "sequence": "MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASSQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPRNEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDTDTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI", "length": 872, "header": "sp|O43525-1|KCNQ3_HUMAN Isoform 1 of Potassium voltage-gated channel subfamily KQT member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=1 SV=2 CANONICAL=O43525-1" }, "locus": { "chromosome": "8", "start_pos": 132480532, "end_pos": 132129265, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000388996.10", "url": "https://www.ensembl.org/id/ENST00000388996.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000373648.3", "url": "https://www.ensembl.org/id/ENSP00000373648.3" } ] } }, { "isoform_ac": "O43525-2", "url": "", "sequence": { "sequence": "MKPAEHATMFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASSQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPRNEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDTDTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI", "length": 752, "header": "sp|O43525-2|KCNQ3_HUMAN Isoform 2 of Potassium voltage-gated channel subfamily KQT member 3 OS=Homo sapiens OX=9606 GN=KCNQ3 PE=1 SV=2 CANONICAL=O43525-1" }, "locus": { "chromosome": "8", "start_pos": 132447226, "end_pos": 132129265, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521134.6", "url": "https://www.ensembl.org/id/ENST00000521134.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000429799.1", "url": "https://www.ensembl.org/id/ENSP00000429799.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 655, "start_aa": "Thr", "end_pos": 655, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr655", "evidence": [ { "id": "O43525", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43525" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "25303527", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25303527" }, { "id": "O43525", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43525" } ] } ], "phosphorylation": [ { "start_pos": 125, "end_pos": 125, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43525", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43525" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Tyr125" }, { "start_pos": 246, "end_pos": 246, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" }, { "database": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" }, { "database": "phospho.ELM", "id": "O43525", "url": "http://phospho.elm.eu.org/byAccession/O43525.html" }, { "database": "iPTMnet", "id": "O43525", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43525" } ], "site_lbl": "Thr246" }, { "start_pos": 578, "end_pos": 578, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O43525", "url": "http://phospho.elm.eu.org/byAccession/O43525.html" }, { "database": "iPTMnet", "id": "O43525", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43525" }, { "database": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" } ], "site_lbl": "Ser578" }, { "start_pos": 579, "end_pos": 579, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O43525", "url": "http://phospho.elm.eu.org/byAccession/O43525.html" }, { "database": "iPTMnet", "id": "O43525", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43525" }, { "database": "PubMed", "id": "16319223", "url": "https://glygen.org/publication/PubMed/16319223" } ], "site_lbl": "Thr579" }, { "start_pos": 746, "end_pos": 746, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43525", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43525" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr746" }, { "start_pos": 81, "end_pos": 81, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "site_lbl": "Thr81" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "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": "J. Neurosci.", "date": "2000", "authors": "Shapiro M S, Roche J P, Kaftan E J, Cruzblanca H, Mackie K, Hille B", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "10713961", "url": "https://glygen.org/publication/PubMed/10713961" } ] }, { "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "10788442", "url": "https://glygen.org/publication/PubMed/10788442" } ] }, { "title": "A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.", "journal": "Annals of neurology", "date": "2000", "authors": "Hirose S, Zenri F, Akiyoshi H, Fukuma G, Iwata H, Inoue T, Yonetani M, Tsutsumi M, Muranaka H, Kurokawa T, Hanai T, Wada K, Kaneko S, Mitsudome A", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "10852552", "url": "https://glygen.org/publication/PubMed/10852552" } ] }, { "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "11034315", "url": "https://glygen.org/publication/PubMed/11034315" } ] }, { "title": "Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells.", "journal": "British journal of pharmacology", "date": "2001-01", "authors": "Wickenden A D, Zou A, Wagoner P K, Jegla T", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "11159685", "url": "https://glygen.org/publication/PubMed/11159685" } ] }, { "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": "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "14534157", "url": "https://glygen.org/publication/PubMed/14534157" } ] }, { "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" }, { "database": "iPTMnet", "id": "O43525", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43525" } ], "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": 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Chem.", "date": "1998", "authors": "Yang WP, Levesque PC, Little WA, Conder ML, Ramakrishnan P, Neubauer MG, Blanar MA", "evidence": [ { "database": "UniProtKB", "id": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "9677360", "url": "https://glygen.org/publication/PubMed/9677360" } ] }, { "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": "O43525", "url": "https://www.uniprot.org/uniprot/O43525" } ], "reference": [ { "type": "PubMed", "id": "9872318", "url": "https://glygen.org/publication/PubMed/9872318" } ] } ], "pathway": [ { "id": "hsa:3786", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3786", "resource": "KEGG Pathway" }, { "id": "R-HSA-1296072", "name": "Voltage gated Potassium channels", "url": 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