{ "uniprot_canonical_ac": "O60391-1", "uniprot_ac": "O60391", "uniprot_id": "NMD3B_HUMAN", "mass": { "chemical_mass": 112992.0, "monoisotopic_mass": 112992.0 }, "refseq": { "ac": "NP_619635", "name": "glutamate receptor ionotropic, NMDA 3B precursor", "summary": "The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, "gene_names": [ { "name": "GRIN3B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60391", "id": "O60391" }, { "name": "GRIN3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635", "id": "NP_619635" }, { "name": "GluN3B; NR3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635", "id": "NP_619635" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 3B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60391" }, { "name": "GluN3B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60391" }, { "name": "N-methyl-D-aspartate receptor subtype 3B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60391" }, { "name": "NMDAR3B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60391" }, { "name": "NR3B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60391" }, { "name": "glutamate [NMDA] receptor subunit 3B; NMDA type glutamate receptor subunit NR3B; NMDA receptor subunit 3B; NMDAR3B; glutamate receptor ionotropic, NMDA 3B; N-methyl-D-aspartate receptor subtype 3B; glutamate receptor, ionotropic, N-methyl-D-aspartate 3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635", "id": "NP_619635" }, { "name": "glutamate receptor ionotropic, NMDA 3B precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635", "id": "NP_619635" } ], "function": [ { "annotation": "Authors investigated the significance of a common human genetic variation of the NMDAR NR3B subunit Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, { "database": "PubMed", "id": "25768306", "url": "https://glygen.org/publication/PubMed/25768306" } ] }, { "annotation": "Cross-talk between NR3B and NR4A receptors is a mechanism modulating the transcriptional activities of these orphan nuclear receptors", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, { "database": "PubMed", "id": "17543277", "url": "https://glygen.org/publication/PubMed/17543277" } ] }, { "annotation": "GRIN3B missense mutation is an inherited risk factor for schizophrenia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, { "database": "PubMed", "id": "28132660", "url": "https://glygen.org/publication/PubMed/28132660" } ] }, { "annotation": "NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine.", "evidence": [ { "database": "UniProtKB", "id": "O60391", "url": "https://www.uniprot.org/uniprot/O60391#function" } ] }, { "annotation": "NR3B mRNA expression in the human hippocampal formation (CA1-CA4 and dentate gyrus) and adjacent neocortex may have implications for understanding the role of NMDA receptors for physiological and pathological processes in these forebrain regions.", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, { "database": "PubMed", "id": "15722182", "url": "https://glygen.org/publication/PubMed/15722182" } ] }, { "annotation": "Rs2240158 of GRIN3B was significantly associated with mismatch negativity in healthy subjects.", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, { "database": "PubMed", "id": "24814139", "url": "https://glygen.org/publication/PubMed/24814139" } ] }, { "annotation": "The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" } ] }, { "annotation": "We tested whether genetic dysfunction of GRIN3B is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS).", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" }, { "database": "PubMed", "id": "17687115", "url": "https://glygen.org/publication/PubMed/17687115" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs776839228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776839228" }, { "id": "rs776839228", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776839228" }, { "id": "rs776839228", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776839228#frequency_tab" }, { "id": "rs776839228", "database": "gnomAD", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60391" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60391" } ], "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": [ { "database": "BioXpress", "id": "O60391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60391" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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Neurosci.", "date": "2001", "authors": "Nishi M, Hinds H, Lu HP, Kawata M, Hayashi Y", "evidence": [ { "database": "UniProtKB", "id": "O60391", "url": "https://www.uniprot.org/uniprot/O60391" } ], "reference": [ { "type": "PubMed", "id": "11717388", "url": "https://glygen.org/publication/PubMed/11717388" } ] }, { "title": "Nucleotide sequence, genomic organization, and chromosomal localization of genes encoding the human NMDA receptor subunits NR3A and NR3B.", "journal": "Genomics", "date": "2001", "authors": "Andersson O, Stenqvist A, Attersand A, von Euler G", "evidence": [ { "database": "UniProtKB", "id": "O60391", "url": "https://www.uniprot.org/uniprot/O60391" } ], "reference": [ { "type": "PubMed", "id": "11735224", "url": "https://glygen.org/publication/PubMed/11735224" } ] }, { "title": "Cloning and expression of the human NMDA receptor subunit NR3B in the adult human hippocampus.", "journal": "Neurosci. 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"Neurology", "date": "2008", "authors": "Niemann S, Landers JE, Churchill MJ, Hosler B, Sapp P, Speed WC, Lahn BT, Kidd KK, Brown RH Jr, Hayashi Y", "evidence": [ { "database": "RefSeq", "id": "NP_619635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619635" } ], "reference": [ { "type": "PubMed", "id": "17687115", "url": "https://glygen.org/publication/PubMed/17687115" } ] }, { "title": "PDZ protein interactions underlying NMDA receptor-mediated excitotoxicity and neuroprotection by PSD-95 inhibitors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Cui H, Hayashi A, Sun HS, Belmares MP, Cobey C, Phan T, Schweizer J, Salter MW, Wang YT, Tasker RA, Garman D, Rabinowitz J, Lu PS, Tymianski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609736", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609736" } ], "reference": [ { "type": "PubMed", "id": "17855605", "url": 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