{ "uniprot_canonical_ac": "O60939-1", "uniprot_ac": "O60939", "uniprot_id": "SCN2B_HUMAN", "mass": { "chemical_mass": 24326.0, "monoisotopic_mass": 24326.0 }, "refseq": { "ac": "NP_004579", "name": "sodium channel subunit beta-2 precursor", "summary": "The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" }, "gene_names": [ { "name": "SCN2B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60939", "id": "O60939" }, { "name": "ATFB14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579", "id": "NP_004579" }, { "name": "PRO386", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60939", "id": "O60939" }, { "name": "SCN2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579", "id": "NP_004579" } ], "protein_names": [ { "name": "Sodium channel subunit beta-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60939" }, { "name": "sodium channel subunit beta-2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579", "id": "NP_004579" }, { "name": "sodium channel, voltage-gated, type II, beta polypeptide; sodium channel, voltage gated, type II beta subunit; neuronal voltage-gated sodium channel beta 2 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579", "id": "NP_004579" } ], "function": [ { "annotation": "A novel gain-of-function sodium channel beta2 subunit mutation in idiopathic small fiber neuropathy.", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" }, { "database": "PubMed", "id": "34320850", "url": "https://glygen.org/publication/PubMed/34320850" } ] }, { "annotation": "Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939#function" } ] }, { "annotation": "Findings add to the understanding of beta2 role in Nav 1.5 trafficking and localisation, which must influence cell excitability and electrical coupling in the heart.", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" }, { "database": "PubMed", "id": "28597987", "url": "https://glygen.org/publication/PubMed/28597987" } ] }, { "annotation": "The authors identified a flexible loop formed by (72)Cys and (75)Cys, a unique feature among the four beta-subunit isoforms. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" }, { "database": "PubMed", "id": "26894959", "url": "https://glygen.org/publication/PubMed/26894959" } ] }, { "annotation": "The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" } ] }, { "annotation": "This study reports the cryo-electron microscopy structures of the human Nav1.7-beta1-beta2 complex bound to two combinations of pore blockers and gating modifier toxins (GMTs), tetrodotoxin with protoxin-II and saxitoxin with huwentoxin-IV, both determined at overall resolutions of 3.2 angstroms.", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" }, { "database": "PubMed", "id": "30765606", "url": "https://glygen.org/publication/PubMed/30765606" } ] } ], "disease": [ { "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "GJA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, type 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "familial atrial fibrillation caused by mutation in GJA5", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "ATFB11", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "SCN1B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, type 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "familial atrial fibrillation caused by mutation in SCN1B", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "ATFB13", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "SCN2B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, type 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "familial atrial fibrillation caused by mutation in SCN2B", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "ATFB14", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "KCNQ1 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, type 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "familial atrial fibrillation caused by mutation in KCNQ1", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "ATFB3", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ABCC9 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, type 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "familial atrial fibrillation caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ATFB12", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "ATFB5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "NUP155 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, type 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "familial atrial fibrillation caused by mutation in NUP155", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "ATFB15", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "NPPA familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, type 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "familial atrial fibrillation caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "ATFB6", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "KCNA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, type 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "familial atrial fibrillation caused by mutation in KCNA5", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "ATFB7", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "KCNJ2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, type 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "familial atrial fibrillation caused by mutation in KCNJ2", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "ATFB9", "description": "" }, { "id": "MIM:614049", "resource": "MIM", "url": "https://www.omim.org/entry/614049", "name": "Atrial fibrillation, familial, 11", "description": "Atrial fibrillation, familial, 11" }, { "id": "MIM:614022", "resource": "MIM", "url": "https://www.omim.org/entry/614022", "name": "Atrial fibrillation, familial, 10", "description": "Atrial fibrillation, familial, 10" }, { "id": "MIM:615377", "resource": "MIM", "url": "https://www.omim.org/entry/615377", "name": "Atrial fibrillation, familial, 13", "description": "Atrial fibrillation, familial, 13" }, { "id": "MIM:615378", "resource": "MIM", "url": "https://www.omim.org/entry/615378", "name": "Atrial fibrillation, familial, 14", "description": "Atrial fibrillation, familial, 14" }, { "id": "MIM:607554", "resource": "MIM", "url": "https://www.omim.org/entry/607554", "name": "Atrial fibrillation, familial, 3", "description": "Atrial fibrillation, familial, 3" }, { "id": "MIM:614050", "resource": "MIM", "url": "https://www.omim.org/entry/614050", "name": "Atrial fibrillation, familial, 12", "description": "Atrial fibrillation, familial, 12" }, { "id": "MIM:611493", "resource": "MIM", "url": "https://www.omim.org/entry/611493", "name": "Atrial fibrillation, familial, 4", "description": "Atrial fibrillation, familial, 4" }, { "id": "MIM:615770", "resource": "MIM", "url": "https://www.omim.org/entry/615770", "name": "Atrial fibrillation, familial, 15", "description": "Atrial fibrillation, familial, 15" }, { "id": "MIM:612201", "resource": "MIM", "url": "https://www.omim.org/entry/612201", "name": "Atrial fibrillation, familial, 6", "description": "Atrial fibrillation, familial, 6" }, { "id": "MIM:612240", "resource": "MIM", "url": "https://www.omim.org/entry/612240", "name": "Atrial fibrillation, familial, 7", "description": "Atrial fibrillation, familial, 7" }, { "id": "MIM:613980", "resource": "MIM", "url": "https://www.omim.org/entry/613980", "name": "Atrial fibrillation, familial, 9", "description": "Atrial fibrillation, familial, 9" } ], "evidence": [ { "id": "615378", "database": "MIM", "url": "https://www.omim.org/entry/615378" } ] } ], "snv": [ { "evidence": [ { "id": "rs780695088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780695088" }, { "id": "rs780695088", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780695088" }, { "id": "rs780695088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780695088#frequency_tab" }, { "id": "rs780695088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780695088" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 109, "end_pos": 109, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "11", "chr_pos": "118168208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D109", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60939", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60939" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 66, "end_pos": 66, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NWT->SWT).", "chr_id": "11", "chr_pos": "118168625", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N66", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60939", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60939" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60939", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60939" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60939", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60939" } ], "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": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O60939", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60939" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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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": "Identification and characterization of the human MOG1 gene.", "journal": "Gene", "date": "2001", "authors": "Marfatia KA, Harreman MT, Fanara P, Vertino PM, Corbett AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "11290418", "url": "https://glygen.org/publication/PubMed/11290418" } ] }, { "title": "Human receptors for sweet and umami taste.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Li X, Staszewski L, Xu H, Durick K, Zoller M, Adler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "11917125", "url": "https://glygen.org/publication/PubMed/11917125" } ] }, { "title": "TRPM4 is a Ca2+-activated nonselective cation channel mediating cell membrane depolarization.", "journal": "Cell", "date": "2002", "authors": "Launay P, Fleig A, Perraud AL, Scharenberg AM, Penner R, Kinet JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "12015988", "url": "https://glygen.org/publication/PubMed/12015988" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, Barchi RL, Kallen RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "1309946", "url": "https://glygen.org/publication/PubMed/1309946" } ] }, { "title": "Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Ahmed CM, Ware DH, Lee SC, Patten CD, Ferrer-Montiel AV, Schinder AF, McPherson JD, Wagner-McPherson CB, Wasmuth JJ, Evans GA, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "1325650", "url": "https://glygen.org/publication/PubMed/1325650" } ] }, { "title": "A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.", "journal": "Circulation research", "date": "2003", "authors": "Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "14500339", "url": "https://glygen.org/publication/PubMed/14500339" } ] }, { "title": "TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Prawitt D, Monteilh-Zoller MK, Brixel L, Spangenberg C, Zabel B, Fleig A, Penner R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "14634208", "url": "https://glygen.org/publication/PubMed/14634208" } ] }, { "title": "Calcium channel alpha2delta subunits: differential expression, function, and drug binding.", "journal": "Journal of bioenergetics and biomembranes", "date": "2003", "authors": "Klugbauer N, Marais E, Hofmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "15000524", "url": "https://glygen.org/publication/PubMed/15000524" } ] }, { "title": "Different functional roles of T1R subunits in the heteromeric taste receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Xu H, Staszewski L, Tang H, Adler E, Zoller M, Li X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": 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"reference": [ { "type": "PubMed", "id": "15738140", "url": "https://glygen.org/publication/PubMed/15738140" } ] }, { "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": "An SCN9A channelopathy causes congenital inability to experience pain.", "journal": "Nature", "date": "2006", "authors": "Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "17167479", "url": "https://glygen.org/publication/PubMed/17167479" } ] }, { "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": "The G-protein coupling properties of the human sweet and amino acid taste receptors.", "journal": "Developmental neurobiology", "date": "2007", "authors": "Sainz E, Cavenagh MM, LopezJimenez ND, Gutierrez JC, Battey JF, Northup JK, Sullivan SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "17506496", "url": "https://glygen.org/publication/PubMed/17506496" } ] }, { "title": "Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wu L, Yong SL, Fan C, Ni Y, Yoo S, Zhang T, Zhang X, Obejero-Paz CA, Rho HJ, Ke T, Szafranski P, Jones SW, Chen Q, Wang QK", "evidence": [ { "database": "Reactome", "id": 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"id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "19104071", "url": "https://glygen.org/publication/PubMed/19104071" } ] }, { "title": "Crystal structure of a fibroblast growth factor homologous factor (FHF) defines a conserved surface on FHFs for binding and modulation of voltage-gated sodium channels.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Goetz R, Dover K, Laezza F, Shtraizent N, Huang X, Tchetchik D, Eliseenkova AV, Xu CF, Neubert TA, Ornitz DM, Goldfarb M, Mohammadi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "19406745", "url": "https://glygen.org/publication/PubMed/19406745" } ] }, { "title": "Genetic and molecular basis of individual differences in human umami taste perception.", "journal": "PloS one", "date": "2009", "authors": "Shigemura N, Shirosaki S, Sanematsu K, Yoshida R, Ninomiya Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "19696921", "url": "https://glygen.org/publication/PubMed/19696921" } ] }, { "title": "Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.", "journal": "Circulation. Arrhythmia and electrophysiology", "date": "2009", "authors": "Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "19808477", "url": "https://glygen.org/publication/PubMed/19808477" } ] }, { "title": "The molecular receptive ranges of human TAS2R bitter taste receptors.", "journal": "Chemical senses", "date": "2010", "authors": "Meyerhof W, Batram C, Kuhn C, Brockhoff A, Chudoba E, Bufe B, Appendino G, Behrens M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "20022913", "url": "https://glygen.org/publication/PubMed/20022913" } ] }, { "title": "A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.", "journal": "Annals of neurology", "date": "2009", "authors": "Estacion M, Harty TP, Choi JS, Tyrrell L, Dib-Hajj SD, Waxman SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "20033988", "url": "https://glygen.org/publication/PubMed/20033988" } ] }, { "title": "Cardiac L-type calcium channel (Cav1.2) associates with gamma subunits.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011", "authors": "Yang L, Katchman A, Morrow JP, Doshi D, Marx SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "21127204", "url": "https://glygen.org/publication/PubMed/21127204" } ] }, { "title": "Human genetic polymorphisms in T1R1 and T1R3 taste receptor subunits affect their function.", "journal": "Chemical senses", "date": "2011", "authors": "Raliou M, Grauso M, Hoffmann B, Schlegel-Le-Poupon C, Nespoulous C, Debat H, Belloir C, Wiencis A, Sigoillot M, Bano SP, Trotier D, Pernollet JC, Montmayeur JP, Faurion A, Briand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "21422378", "url": "https://glygen.org/publication/PubMed/21422378" } ] }, { "title": "Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wang C, Wang C, Hoch EG, Pitt GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "21566136", "url": "https://glygen.org/publication/PubMed/21566136" } ] }, { "title": "Molecular mechanism of species-dependent sweet taste toward artificial sweeteners.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2011", "authors": "Liu B, Ha M, Meng XY, Kaur T, Khaleduzzaman M, Zhang Z, Jiang P, Li X, Cui M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "21795555", "url": "https://glygen.org/publication/PubMed/21795555" } ] }, { "title": "Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.", "journal": "Circulation research", "date": "2011", "authors": "Wang C, Hennessey JA, Kirkton RD, Wang C, Graham V, Puranam RS, Rosenberg PB, Bursac N, Pitt GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "21817159", "url": "https://glygen.org/publication/PubMed/21817159" } ] }, { "title": "Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel alpha(2)delta-1 auxiliary subunit.", "journal": "Cell calcium", "date": "2012", "authors": "Calderon-Rivera A, Andrade A, Hernandez-Hernandez O, Gonzalez-Ramirez R, Sandoval A, Rivera M, Gomora JC, Felix R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "22054663", "url": "https://glygen.org/publication/PubMed/22054663" } ] }, { "title": "Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Ashpole NM, Herren AW, Ginsburg KS, Brogan JD, Johnson DE, Cummins TR, Bers DM, Hudmon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "22514276", "url": "https://glygen.org/publication/PubMed/22514276" } ] }, { "title": "Identification of the cysteine residue responsible for disulfide linkage of Na+ channel alpha and beta2 subunits.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Chen C, Calhoun JD, Zhang Y, Lopez-Santiago L, Zhou N, Davis TH, Salzer JL, Isom LL", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "22992729", "url": "https://glygen.org/publication/PubMed/22992729" } ] }, { "title": "A missense mutation in the sodium channel beta2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.", "journal": "Human mutation", "date": "2013", "authors": "Riuro H, Beltran-Alvarez P, Tarradas A, Selga E, Campuzano O, Verges M, Pagans S, Iglesias A, Brugada J, Brugada P, Vazquez FM, Perez GJ, Scornik FS, Brugada R", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "23559163", "url": "https://glygen.org/publication/PubMed/23559163" } ] }, { "title": "Major haplotypes of the human bitter taste receptor TAS2R41 encode functional receptors for chloramphenicol.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Thalmann S, Behrens M, Meyerhof W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "23632330", "url": "https://glygen.org/publication/PubMed/23632330" } ] }, { "title": "Fibroblast growth factor homologous factors modulate cardiac calcium channels.", "journal": "Circulation research", "date": "2013", "authors": "Hennessey JA, Wei EQ, Pitt GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "23804213", "url": "https://glygen.org/publication/PubMed/23804213" } ] }, { "title": "Novel SCN3A variants associated with focal epilepsy in children.", "journal": "Neurobiology of disease", "date": "2014", "authors": "Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24157691", "url": "https://glygen.org/publication/PubMed/24157691" } ] }, { "title": "Two distinct determinants of ligand specificity in T1R1/T1R3 (the umami taste receptor).", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Toda Y, Nakagita T, Hayakawa T, Okada S, Narukawa M, Imai H, Ishimaru Y, Misaka T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24214976", "url": "https://glygen.org/publication/PubMed/24214976" } ] }, { "title": "The taste of D- and L-amino acids: In vitro binding assays with cloned human bitter (TAS2Rs) and sweet (TAS1R2/TAS1R3) receptors.", "journal": "Food chemistry", "date": "2014", "authors": "Bassoli A, Borgonovo G, Caremoli F, Mancuso G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24360415", "url": "https://glygen.org/publication/PubMed/24360415" } ] }, { "title": "L-Theanine elicits umami taste via the T1R1 + T1R3 umami taste receptor.", "journal": "Amino acids", "date": "2014", "authors": "Narukawa M, Toda Y, Nakagita T, Hayashi Y, Misaka T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24633359", "url": "https://glygen.org/publication/PubMed/24633359" } ] }, { "title": "Modulation of sweet taste by umami compounds via sweet taste receptor subunit hT1R2.", "journal": "PloS one", "date": "2015", "authors": "Shim J, Son HJ, Kim Y, Kim KH, Kim JT, Moon H, Kim MJ, Misaka T, Rhyu MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "25853419", "url": "https://glygen.org/publication/PubMed/25853419" } ] }, { "title": "Characterization of the Binding Site of Aspartame in the Human Sweet Taste Receptor.", "journal": "Chemical senses", "date": "2015", "authors": "Maillet EL, Cui M, Jiang P, Mezei M, Hecht E, Quijada J, Margolskee RF, Osman R, Max M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "26377607", "url": "https://glygen.org/publication/PubMed/26377607" } ] }, { "title": "Binary architecture of the Nav1.2-beta2 signaling complex.", "journal": "eLife", "date": "2016", "authors": "Das S, Gilchrist J, Bosmans F, Van Petegem F", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" }, { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" } ], "reference": [ { "type": "PubMed", "id": "26894959", "url": "https://glygen.org/publication/PubMed/26894959" } ] }, { "title": "Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.", "journal": "Biological psychiatry", "date": "2017", "authors": "Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "28256214", "url": "https://glygen.org/publication/PubMed/28256214" } ] }, { "title": "Trafficking and localisation to the plasma membrane of Nav 1.5 promoted by the beta2 subunit is defective due to a beta2 mutation associated with Brugada syndrome.", "journal": "Biology of the cell", "date": "2017", "authors": "Dulsat G, Palomeras S, Cortada E, Riuro H, Brugada R, Verges M", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" } ], "reference": [ { "type": "PubMed", "id": "28597987", "url": "https://glygen.org/publication/PubMed/28597987" } ] }, { "title": "Mutations in SCN3A cause early infantile epileptic encephalopathy.", "journal": "Annals of neurology", "date": "2018", "authors": "Zaman T, Helbig I, Bozovic IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "29466837", "url": "https://glygen.org/publication/PubMed/29466837" } ] }, { "title": "beta1 subunit stabilises sodium channel Nav1.7 against mechanical stress.", "journal": "The Journal of physiology", "date": "2018", "authors": "Korner J, Meents J, Machtens JP, Lampert A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "29659026", "url": "https://glygen.org/publication/PubMed/29659026" } ] }, { "title": "Co-expression of beta Subunits with the Voltage-Gated Sodium Channel NaV1.7: the Importance of Subunit Association and Phosphorylation and Their Effects on Channel Pharmacology and Biophysics.", "journal": "Journal of molecular neuroscience : MN", "date": "2018", "authors": "Sokolov MV, Henrich-Noack P, Raynoschek C, Franzen B, Larsson O, Main M, Dabrowski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "29744740", "url": "https://glygen.org/publication/PubMed/29744740" } ] }, { "title": "Structural basis for the regulation of inositol trisphosphate receptors by Ca(2+) and IP3.", "journal": "Nature structural & molecular biology", "date": "2018", "authors": "Paknejad N, Hite RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "30013099", "url": "https://glygen.org/publication/PubMed/30013099" } ] }, { "title": "All three IP3 receptor isoforms generate Ca(2+) puffs that display similar characteristics.", "journal": "Science signaling", "date": "2018", "authors": "Lock JT, Alzayady KJ, Yule DI, Parker I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "30563861", "url": "https://glygen.org/publication/PubMed/30563861" } ] }, { "title": "Molecular basis for pore blockade of human Na(+) channel Nav1.2 by the mu-conotoxin KIIIA.", "journal": "Science (New York, N.Y.)", "date": "2019", "authors": "Pan X, Li Z, Huang X, Huang G, Gao S, Shen H, Liu L, Lei J, Yan N", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "30765605", "url": "https://glygen.org/publication/PubMed/30765605" } ] }, { "title": "Structures of human Nav1.7 channel in complex with auxiliary subunits and animal toxins.", "journal": "Science (New York, N.Y.)", "date": "2019", "authors": "Shen H, Liu D, Wu K, Lei J, Yan N", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939#ptm_processing" }, { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" }, { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" } ], "reference": [ { "type": "PubMed", "id": "30765606", "url": "https://glygen.org/publication/PubMed/30765606" } ] }, { "title": "A novel gain-of-function sodium channel beta2 subunit mutation in idiopathic small fiber neuropathy.", "journal": "Journal of neurophysiology", "date": "2021", "authors": "Alsaloum M, Labau JIR, Sosniak D, Zhao P, Almomani R, Gerrits M, Hoeijmakers JGJ, Lauria G, Faber CG, Waxman SG, Dib-Hajj S", "evidence": [ { "database": "RefSeq", "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579" } ], "reference": [ { "type": "PubMed", "id": "34320850", "url": "https://glygen.org/publication/PubMed/34320850" } ] }, { "title": "Structure of human NaV1.6 channel reveals Na+ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin.", "journal": "Nat. Commun.", "date": "2023", "authors": "Li Yue, Yuan Tian, Huang Bo, Zhou Feng, Peng Chao, Li Xiaojing, Qiu Yunlong, Yang Bei, Zhao Yan, Huang Zhuo, Jiang Daohua", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "36823201", "url": "https://glygen.org/publication/PubMed/36823201" } ] }, { "title": "Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.", "journal": "The EMBO journal", "date": "1995", "authors": "Klugbauer N, Lacinova L, Flockerzi V, Hofmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "7720699", "url": "https://glygen.org/publication/PubMed/7720699" } ] }, { "title": "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.", "journal": "Neuropharmacology", "date": "1993", "authors": "Brust PF, Simerson S, McCue AF, Deal CR, Schoonmaker S, Williams ME, Velicelebi G, Johnson EC, Harpold MM, Ellis SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576892", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576892" } ], "reference": [ { "type": "PubMed", "id": "8107964", "url": "https://glygen.org/publication/PubMed/8107964" } ] }, { "title": "Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Maranto AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "8288584", "url": "https://glygen.org/publication/PubMed/8288584" } ] }, { "title": "Ca2+ differentially regulates the ligand-affinity states of type 1 and type 3 inositol 1,4,5-trisphosphate receptors.", "journal": "The Biochemical journal", "date": "1997", "authors": "Yoneshima H, Miyawaki A, Michikawa T, Furuichi T, Mikoshiba K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "9065781", "url": "https://glygen.org/publication/PubMed/9065781" } ] }, { "title": "Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel.", "journal": "NeuroReport", "date": "1997", "authors": "Eubanks J, Srinivasan J, Dinulos MB, Disteche CM, Catterall WA", "evidence": [ { "database": "UniProtKB", "id": "O60939", "url": "https://www.uniprot.org/uniprot/O60939" } ], "reference": [ { "type": "PubMed", "id": "9295116", "url": "https://glygen.org/publication/PubMed/9295116" } ] }, { "title": "Exclusion of the SCN2B gene as candidate for CMT4B.", "journal": "Eur. 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