{ "uniprot_canonical_ac": "O00222-1", "uniprot_ac": "O00222", "uniprot_id": "GRM8_HUMAN", "mass": { "chemical_mass": 101741.0, "monoisotopic_mass": 101741.0 }, "refseq": { "ac": "NP_000836", "name": "metabotropic glutamate receptor 8 isoform a precursor", "summary": "L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" }, "gene_names": [ { "name": "GRM8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00222", "id": "O00222" }, { "name": "GLUR8; GPRC1H; mGlu8; MGLUR8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836", "id": "NP_000836" }, { "name": "GPRC1H", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00222", "id": "O00222" }, { "name": "GRM8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836", "id": "NP_000836" }, { "name": "MGLUR8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00222", "id": "O00222" } ], "protein_names": [ { "name": "Metabotropic glutamate receptor 8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00222" }, { "name": "glutamate receptor, metabotropic 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836", "id": "NP_000836" }, { "name": "mGluR8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00222" }, { "name": "metabotropic glutamate receptor 8 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836", "id": "NP_000836" } ], "function": [ { "annotation": "Association between the group III metabotropic glutamate receptor gene polymorphisms and attention-deficit/hyperactivity disorder and functional exploration of risk loci.", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" }, { "database": "PubMed", "id": "33068816", "url": "https://glygen.org/publication/PubMed/33068816" } ] }, { "annotation": "G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity.", "evidence": [ { "database": "UniProtKB", "id": "O00222", "url": "https://www.uniprot.org/uniprot/O00222#function" }, { "database": "PubMed", "id": "9473604", "url": "https://glygen.org/publication/PubMed/9473604" } ] }, { "annotation": "GRM8 genotype is associated with externalizing disorders and greater inter-trial variability in brain activation during a response inhibition task.", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" }, { "database": "PubMed", "id": "32299001", "url": "https://glygen.org/publication/PubMed/32299001" } ] }, { "annotation": "L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" } ] }, { "annotation": "Rs712723 in GRM8 was selected for genotyping. The allele C and genotype CC (allele C: OR 1.48, 95% CI 1.13-1.94; genotype CC: OR 1.71, 95% CI 1.09-2.68) of rs712723 polymorphism was found to have a significant association with risk of schizophrenia while allele T (P = 0.003) and genotype TT (P = 0.028) frequencies were found lower in control patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" }, { "database": "PubMed", "id": "30288643", "url": "https://glygen.org/publication/PubMed/30288643" } ] }, { "annotation": "This study showed that GRM8 was nominally associated (p < 0.05) with both delta measures (energy and intertrial phase coherence).", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" }, { "database": "PubMed", "id": "27871913", "url": "https://glygen.org/publication/PubMed/27871913" } ] }, { "annotation": "Transcriptional activation of GRM8 lung squamous cell carcinoma tumor cells induced cell proliferation by inhibiting cAMP pathway and activating MAPK pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" }, { "database": "PubMed", "id": "30391781", "url": "https://glygen.org/publication/PubMed/30391781" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1009139343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009139343" }, { "id": "rs1009139343", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009139343#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 565, "end_pos": 565, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->TRT); n-glyco-sequon-gain (NMN->NMT).", "chr_id": "7", "chr_pos": "126533688", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00222", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00222" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 146, "end_pos": 146, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "7", "chr_pos": "127242767", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K146", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00222", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00222" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 185, "end_pos": 185, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "7", "chr_pos": "127106670", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D185", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00222", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00222" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "127106567", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S219", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "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 of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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"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, 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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, 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"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", 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"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", 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"length": 501, "header": "sp|O00222-3|GRM8_HUMAN Isoform 3 of Metabotropic glutamate receptor 8 OS=Homo sapiens OX=9606 GN=GRM8 PE=1 SV=2 CANONICAL=O00222-1" }, "locus": { "chromosome": "7", "start_pos": 127243204, "end_pos": 126609424, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341617.7", "url": "https://www.ensembl.org/id/ENST00000341617.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000345747.3", "url": "https://www.ensembl.org/id/ENSP00000345747.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "O00222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00222#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 452, "start_aa": "Asn", "end_pos": 452, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn452", "evidence": [ { "id": "O00222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00222#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "O00222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00222#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 565, "start_aa": "Asn", "end_pos": 565, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn565", "evidence": [ { "id": "O00222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00222#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "O00222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00222#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 864, "end_pos": 864, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00222", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00222" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr864" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Cloning and functional expression of alternative spliced variants of the human metabotropic glutamate receptor 8.", "journal": "Brain Res. Mol. Brain Res.", "date": "1999", "authors": "Malherbe P, Kratzeisen C, Lundstrom K, Richards J G, Faull R L, Mutel V", "evidence": [ { "database": "UniProtKB", "id": "O00222", "url": "https://www.uniprot.org/uniprot/O00222" } ], "reference": [ { "type": "PubMed", "id": "10216218", "url": "https://glygen.org/publication/PubMed/10216218" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Regulation of MAP kinase by calcium-sensing receptor in bovine parathyroid and CaR-transfected HEK293 cells.", "journal": "American journal of physiology. Renal physiology", "date": "2001", "authors": "Kifor O, MacLeod RJ, Diaz R, Bai M, Yamaguchi T, Yao T, Kifor I, Brown EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "11208605", "url": "https://glygen.org/publication/PubMed/11208605" } ] }, { "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-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "11917125", "url": "https://glygen.org/publication/PubMed/11917125" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. Drug discovery", "date": "2002", "authors": "Neubig RR, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "Molecular diversity of glutamate receptors and implications for brain function.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Nakanishi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "1329206", "url": "https://glygen.org/publication/PubMed/1329206" } ] }, { "title": "Molecular cloning, expression, and sequence analysis of GPRC6A, a novel family C G-protein-coupled receptor.", "journal": "Gene", "date": "2004", "authors": "Wellendorph P, Brauner-Osborne H", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "15194188", "url": "https://glygen.org/publication/PubMed/15194188" } ] }, { "title": "Deorphanization of GPRC6A: a promiscuous L-alpha-amino acid receptor with preference for basic amino acids.", "journal": "Molecular pharmacology", "date": "2005", "authors": "Wellendorph P, Hansen KB, Balsgaard A, Greenwood JR, Egebjerg J, Brauner-Osborne H", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "15576628", "url": "https://glygen.org/publication/PubMed/15576628" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": 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"https://glygen.org/publication/PubMed/20022913" } ] }, { "title": "Cinacalcet hydrochloride treatment significantly improves all-cause and cardiovascular survival in a large cohort of hemodialysis patients.", "journal": "Kidney international", "date": "2010", "authors": "Block GA, Zaun D, Smits G, Persky M, Brillhart S, Nieman K, Liu J, St Peter WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "20555319", "url": "https://glygen.org/publication/PubMed/20555319" } ] }, { "title": "The ADVANCE study: a randomized study to evaluate the effects of cinacalcet plus low-dose vitamin D on vascular calcification in patients on hemodialysis.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2011", "authors": "Raggi P, Chertow GM, Torres PU, Csiky B, Naso 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hemodialysis patients.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2013", "authors": "Walter S, Baruch A, Dong J, Tomlinson JE, Alexander ST, Janes J, Hunter T, Yin Q, Maclean D, Bell G, Mendel DB, Johnson RM, Karim F", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "23674604", "url": "https://glygen.org/publication/PubMed/23674604" } ] }, { "title": "Velcalcetide (AMG 416), a novel peptide agonist of the calcium-sensing receptor, reduces serum parathyroid hormone and FGF23 levels in healthy male subjects.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2014", "authors": "Martin KJ, Bell G, Pickthorn K, Huang S, Vick A, Hodsman P, Peacock M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", 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Structure of rat cDNAs and human genomic DNAs.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2834384", "url": "https://glygen.org/publication/PubMed/2834384" } ] }, { "title": "A novel calcimimetic agent, evocalcet (MT-4580/KHK7580), suppresses the parathyroid cell function with little effect on the gastrointestinal tract or CYP isozymes in vivo and in vitro.", "journal": "PloS one", "date": "2018", "authors": "Kawata T, Tokunaga S, Murai M, Masuda N, Haruyama W, Shoukei Y, Hisada Y, Yanagida T, Miyazaki H, Wada M, Akizawa T, Fukagawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "29614098", 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Q, Chen X, Li S, Yao T, Wu J", "evidence": [ { "database": "RefSeq", "id": "NP_000836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000836" } ], "reference": [ { "type": "PubMed", "id": "33068816", "url": "https://glygen.org/publication/PubMed/33068816" } ] }, { "title": "Cloning and expression of a human metabotropic glutamate receptor 1 alpha: enhanced coupling on co-transfection with a glutamate transporter.", "journal": "Molecular pharmacology", "date": "1995", "authors": "Desai MA, Burnett JP, Mayne NG, Schoepp DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "7476890", "url": "https://glygen.org/publication/PubMed/7476890" } ] }, { "title": "Molecular cloning, functional expression and pharmacological characterization of the human metabotropic glutamate receptor type 4.", "journal": "Neuropharmacology", "date": "1995", "authors": "Flor PJ, Lukic S, 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