{ "uniprot_canonical_ac": "O43614-1", "uniprot_ac": "O43614", "uniprot_id": "OX2R_HUMAN", "mass": { "chemical_mass": 50694.0, "monoisotopic_mass": 50694.0 }, "refseq": { "ac": "NP_001517", "name": "orexin receptor type 2", "summary": "The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" }, "gene_names": [ { "name": "HCRTR2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43614", "id": "O43614" }, { "name": "HCRTR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517", "id": "NP_001517" }, { "name": "ORXR2; OX2R; OXR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517", "id": "NP_001517" } ], "protein_names": [ { "name": "Orexin receptor type 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43614" }, { "name": "Hypocretin receptor type 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43614" }, { "name": "Ox-2-R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43614" }, { "name": "Ox2-R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43614" }, { "name": "Ox2R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43614" }, { "name": "hypocretin receptor type 2; hypocretin (orexin) receptor 2; orexin type-2 receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517", "id": "NP_001517" }, { "name": "orexin receptor type 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517", "id": "NP_001517" } ], "function": [ { "annotation": "Combined genotype of HCRTR2 and CLOCK variants in a large family of cluster headache with familial periodicity phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" }, { "database": "PubMed", "id": "37418013", "url": "https://glygen.org/publication/PubMed/37418013" } ] }, { "annotation": "Human adipose tissue is a putative direct target of daytime orexin with favorable metabolic effects: A cross-sectional study.", "evidence": [ { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" }, { "database": "PubMed", "id": "34472713", "url": "https://glygen.org/publication/PubMed/34472713" } ] }, { "annotation": "Internal and external modulation factors of the orexin system (REVIEW). Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" }, { "database": "PubMed", "id": "37054895", "url": "https://glygen.org/publication/PubMed/37054895" } ] }, { "annotation": "Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides (PubMed:9491897, PubMed:26950369). Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding (PubMed:9491897, PubMed:26950369).", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614#function" }, { "database": "PubMed", "id": "26950369", "url": "https://glygen.org/publication/PubMed/26950369" }, { "database": "PubMed", "id": "9491897", "url": "https://glygen.org/publication/PubMed/9491897" } ] }, { "annotation": "Relationship between APOE, PER2, PER3 and OX2R Genetic Variants and Neuropsychiatric Symptoms in Patients with Alzheimer's Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" }, { "database": "PubMed", "id": "36901420", "url": "https://glygen.org/publication/PubMed/36901420" } ] }, { "annotation": "Structures of active-state orexin receptor 2 rationalize peptide and small-molecule agonist recognition and receptor activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" }, { "database": "PubMed", "id": "33547286", "url": "https://glygen.org/publication/PubMed/33547286" } ] }, { "annotation": "The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs200969438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200969438" }, { "id": "rs200969438", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200969438" }, { "id": "rs200969438", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200969438" }, { "id": "rs200969438", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200969438#frequency_tab" }, { "id": "rs200969438", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200969438" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 14, "end_pos": 14, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->SWS).", "chr_id": "6", "chr_pos": "55174628", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200445620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200445620" }, { "id": "rs200445620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200445620#frequency_tab" }, { "id": "rs200445620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200445620" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 163, "end_pos": 163, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "6", "chr_pos": "55255222", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43614", "database": "BioMuta", 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Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO: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" 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"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": 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"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": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" 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mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43614", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43614" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43614", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43614" } ], "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43614", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43614" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43614" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"MSGTKLEDSPPCRNWSSASELNETQEPFLNPTDYDDEEFLRYLWREYLHPKEYEWVLIAGYIIVFVVALIGNVLVCVAVWKNHHMRTVTNYFIVNLSLADVLVTITCLPATLVVDITETWFFGQSLCKVIPYLQTVSVSVSVLTLSCIALDRWYAICHPLMFKSTAKRARNSIVIIWIVSCIIMIPQAIVMECSTVFPGLANKTTLFTVCDERWGGEIYPKMYHICFFLVTYMAPLCLMVLAYLQIFRKLWCRQIPGTSSVVQRKWKPLQPVSQPRGPGQPTKSRMSAVAAEIKQIRARRKTARMLMIVLLVFAICYLPISILNVLKRVFGMFAHTEDRETVYAWFTFSHWLVYANSAANPIIYNFLSGKFREEFKAAFSCCCLGVHHRQEDRLTRGRTSTESRKSLTTQISNFDNISKLSEQVVLTSISTLPAANGAGPLQNW", "length": 444, "header": "sp|O43614-1|OX2R_HUMAN Isoform 1 of Orexin receptor type 2 OS=Homo sapiens OX=9606 GN=HCRTR2 PE=1 SV=2 CANONICAL=O43614-1" }, "isoforms": [ { "isoform_ac": "O43614-1", "url": "", "sequence": { "sequence": "MSGTKLEDSPPCRNWSSASELNETQEPFLNPTDYDDEEFLRYLWREYLHPKEYEWVLIAGYIIVFVVALIGNVLVCVAVWKNHHMRTVTNYFIVNLSLADVLVTITCLPATLVVDITETWFFGQSLCKVIPYLQTVSVSVSVLTLSCIALDRWYAICHPLMFKSTAKRARNSIVIIWIVSCIIMIPQAIVMECSTVFPGLANKTTLFTVCDERWGGEIYPKMYHICFFLVTYMAPLCLMVLAYLQIFRKLWCRQIPGTSSVVQRKWKPLQPVSQPRGPGQPTKSRMSAVAAEIKQIRARRKTARMLMIVLLVFAICYLPISILNVLKRVFGMFAHTEDRETVYAWFTFSHWLVYANSAANPIIYNFLSGKFREEFKAAFSCCCLGVHHRQEDRLTRGRTSTESRKSLTTQISNFDNISKLSEQVVLTSISTLPAANGAGPLQNW", "length": 444, "header": "sp|O43614-1|OX2R_HUMAN Isoform 1 of Orexin receptor type 2 OS=Homo sapiens OX=9606 GN=HCRTR2 PE=1 SV=2 CANONICAL=O43614-1" }, "locus": { "chromosome": "6", "start_pos": 55282451, "end_pos": 55174588, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370862.4", "url": "https://www.ensembl.org/id/ENST00000370862.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000359899.3", "url": "https://www.ensembl.org/id/ENSP00000359899.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 14, "start_aa": "Asn", "end_pos": 14, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn14", "evidence": [ { "id": "O43614", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43614#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "O43614", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43614#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 22, "start_aa": "Asn", "end_pos": 22, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn22", "evidence": [ { "id": "O43614", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43614#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).", "journal": "Genomics", "date": "1999", "authors": "Rubio JP, Levy ER, Dobson-Stone C, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10191087", "url": "https://glygen.org/publication/PubMed/10191087" } ] }, { "title": "Structure and function of human prepro-orexin gene.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sakurai T, Moriguchi T, Furuya K, Kajiwara N, Nakamura T, Yanagisawa M, Goto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "10364220", "url": "https://glygen.org/publication/PubMed/10364220" } ] }, { "title": "Selective regulation of Galpha(q/11) by an RGS domain in the G protein-coupled receptor kinase, GRK2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Carman CV, Parent JL, Day PW, Pronin AN, Sternweis PM, Wedegaertner PB, Gilman AG, Benovic JL, Kozasa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10567430", "url": "https://glygen.org/publication/PubMed/10567430" } ] }, { "title": "Solution structure of a new hypothalamic neuropeptide, human hypocretin-2/orexin-B.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Lee JH, Bang E, Chae KJ, Kim JY, Lee DW, Lee W", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "10583376", "url": "https://glygen.org/publication/PubMed/10583376" } ] }, { "title": "Selective regulation of Gq signaling by G protein-coupled receptor kinase 2: direct interaction of kinase N terminus with activated galphaq.", "journal": "Molecular pharmacology", "date": "2000", "authors": "Sallese M, Mariggio S, D'Urbano E, Iacovelli L, De Blasi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10727532", "url": "https://glygen.org/publication/PubMed/10727532" } ] }, { "title": "G protein-coupled receptor kinase-5 regulates thrombin-activated signaling in endothelial cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Tiruppathi C, Yan W, Sandoval R, Naqvi T, Pronin AN, Benovic JL, Malik AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "10861009", "url": "https://glygen.org/publication/PubMed/10861009" } ] }, { "title": "Structure, function, and control of phosphoinositide-specific phospholipase C.", "journal": "Physiological reviews", "date": "2000", "authors": "Rebecchi MJ, Pentyala SN", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11015615", "url": "https://glygen.org/publication/PubMed/11015615" } ] }, { "title": "Identification and characterization of two G protein-coupled receptors for neuropeptide FF.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Bonini JA, Jones KA, Adham N, Forray C, Artymyshyn R, Durkin MM, Smith KE, Tamm JA, Boteju LW, Lakhlani PP, Raddatz R, Yao WJ, Ogozalek KL, Boyle N, Kouranova EV, Quan Y, Vaysse PJ, Wetzel JM, Branchek TA, Gerald C, Borowsky B", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "11024015", "url": "https://glygen.org/publication/PubMed/11024015" } ] }, { "title": "Characterization of the binding of [(125)I]-human prolactin releasing peptide (PrRP) to GPR10, a novel G protein coupled receptor.", "journal": "British journal of pharmacology", "date": "2000", "authors": "Langmead CJ, Szekeres PG, Chambers JK, Ratcliffe SJ, Jones DN, Hirst WD, Price GW, Herdon HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "11030716", "url": "https://glygen.org/publication/PubMed/11030716" } ] }, { "title": "To eat or to sleep? Orexin in the regulation of feeding and wakefulness.", "journal": "Annu. Rev. Neurosci.", "date": "2001", "authors": "Willie J T, Chemelli R M, Sinton C M, Yanagisawa M", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614" } ], "reference": [ { "type": "PubMed", "id": "11283317", "url": "https://glygen.org/publication/PubMed/11283317" } ] }, { "title": "Hypocretin/orexin, sleep and narcolepsy.", "journal": "Bioessays", "date": "2001", "authors": "Hungs M, Mignot E", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614" } ], "reference": [ { "type": "PubMed", "id": "11340621", "url": "https://glygen.org/publication/PubMed/11340621" } ] }, { "title": "Discovery and mapping of ten novel G protein-coupled receptor genes.", "journal": "Gene", "date": "2001", "authors": "Lee DK, Nguyen T, Lynch KR, Cheng R, Vanti WB, Arkhitko O, Lewis T, Evans JF, George SR, O'Dowd BF", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "11574155", "url": "https://glygen.org/publication/PubMed/11574155" } ] }, { "title": "Polymorphisms in hypocretin/orexin pathway genes and narcolepsy.", "journal": "Neurology", "date": "2001", "authors": "Olafsd\u00f3ttir B R, Rye D B, Scammell T E, Matheson J K, Stef\u00e1nsson K, Gulcher J R", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614" } ], "reference": [ { "type": "PubMed", "id": "11723285", "url": "https://glygen.org/publication/PubMed/11723285" } ] }, { "title": "Competing modes of self-association in the regulatory domains of Bruton's tyrosine kinase: intramolecular contact versus asymmetric homodimerization.", "journal": "Protein science : a publication of the Protein Society", "date": "2002", "authors": "Laederach A, Cradic KW, Brazin KN, Zamoon J, Fulton DB, Huang XY, Andreotti AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11742120", "url": "https://glygen.org/publication/PubMed/11742120" } ] }, { "title": "A unique fold of phospholipase C-beta mediates dimerization and interaction with G alpha q.", "journal": "Nature structural biology", "date": "2002", "authors": "Singer AU, Waldo GL, Harden TK, Sondek J", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11753430", "url": "https://glygen.org/publication/PubMed/11753430" } ] }, { "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-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "Identification and characterization of a novel RF-amide peptide ligand for orphan G-protein-coupled receptor SP9155.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Jiang Y, Luo L, Gustafson EL, Yadav D, Laverty M, Murgolo N, Vassileva G, Zeng M, Laz TM, Behan J, Qiu P, Wang L, Wang S, Bayne M, Greene J, Monsma F Jr, Zhang FL", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "12714592", "url": "https://glygen.org/publication/PubMed/12714592" } ] }, { "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-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Cell signalling diversity of the Gqalpha family of heterotrimeric G proteins.", "journal": "Cellular signalling", "date": "2006", "authors": "Hubbard KB, Hepler JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16182515", "url": "https://glygen.org/publication/PubMed/16182515" } ] }, { "title": "Galphaq binds to p110alpha/p85alpha phosphoinositide 3-kinase and displaces Ras.", "journal": "The Biochemical journal", "date": "2006", "authors": "Ballou LM, Chattopadhyay M, Li Y, Scarlata S, Lin RZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16268778", "url": "https://glygen.org/publication/PubMed/16268778" } ] }, { "title": "Snapshot of activated G proteins at the membrane: the Galphaq-GRK2-Gbetagamma complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Tesmer VM, Kawano T, Shankaranarayanan A, Kozasa T, Tesmer JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16339447", "url": "https://glygen.org/publication/PubMed/16339447" } ] }, { "title": "Orexin-A is composed of a highly conserved C-terminal and a specific, hydrophilic N-terminal region, revealing the structural basis of specific recognition by the orexin-1 receptor.", "journal": "Journal of peptide science : an official publication of the European Peptide Society", "date": "2006", "authors": "Takai T, Takaya T, Nakano M, Akutsu H, Nakagawa A, Aimoto S, Nagai K, Ikegami T", "evidence": [ { "database": "Reactome", "id": "R-HSA-389397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389397" } ], "reference": [ { "type": "PubMed", "id": "16429482", "url": "https://glygen.org/publication/PubMed/16429482" } ] }, { "title": "Stable association between G alpha(q) and phospholipase C beta 1 in living cells.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Dowal L, Provitera P, Scarlata S", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16754659", "url": "https://glygen.org/publication/PubMed/16754659" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Galphaq binds two effectors separately in cells: evidence for predetermined signaling pathways.", "journal": "Biophysical journal", "date": "2008", "authors": "Golebiewska U, Scarlata S", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18515384", "url": "https://glygen.org/publication/PubMed/18515384" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Assembly of high order G alpha q-effector complexes with RGS proteins.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Shankaranarayanan A, Thal DM, Tesmer VM, Roman DL, Neubig RR, Kozasa T, Tesmer JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18936096", "url": "https://glygen.org/publication/PubMed/18936096" } ] }, { "title": "G alpha 16, a G protein alpha subunit specifically expressed in hematopoietic cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Amatruda TT 3rd, Steele DA, Slepak VZ, Simon MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "1905813", "url": "https://glygen.org/publication/PubMed/1905813" } ] }, { "title": "Crystal structure of the human OX2 orexin receptor bound to the insomnia drug suvorexant.", "journal": "Nature", "date": "2015", "authors": "Yin J, Mobarec JC, Kolb P, Rosenbaum DM", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614" } ], "reference": [ { "type": "PubMed", "id": "25533960", "url": "https://glygen.org/publication/PubMed/25533960" } ] }, { "title": "Structure and ligand-binding mechanism of the human OX1 and OX2 orexin receptors.", "journal": "Nature structural & molecular biology", "date": "2016", "authors": "Yin J, Babaoglu K, Brautigam CA, Clark L, Shao Z, Scheuermann TH, Harrell CM, Gotter AL, Roecker AJ, Winrow CJ, Renger JJ, Coleman PJ, Rosenbaum DM", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614" } ], "reference": [ { "type": "PubMed", "id": "26950369", "url": "https://glygen.org/publication/PubMed/26950369" } ] }, { "title": "Purification and characterization of membrane-bound phospholipase C specific for phosphoinositides from human platelets.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Banno Y, Yada Y, Nozawa 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Commun.", "date": "2021", "authors": "Hong C, Byrne NJ, Zamlynny B, Tummala S, Xiao L, Shipman JM, Partridge AT, Minnick C, Breslin MJ, Rudd MT, Stachel SJ, Rada VL, Kern JC, Armacost KA, Hollingsworth SA, O'Brien JA, Hall DL, McDonald TP, Strickland C, Brooun A, Soisson SM, Hollenstein K", "evidence": [ { "database": "UniProtKB", "id": "O43614", "url": "https://www.uniprot.org/uniprot/O43614" }, { "database": "RefSeq", "id": "NP_001517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001517" } ], "reference": [ { "type": "PubMed", "id": "33547286", "url": "https://glygen.org/publication/PubMed/33547286" } ] }, { "title": "Human adipose tissue is a putative direct target of daytime orexin with favorable metabolic effects: A cross-sectional study.", "journal": "Obesity (Silver Spring, Md.)", "date": "2021", "authors": "Goldstein N, Tsuneki H, Bhandarkar N, Aimaretti E, Haim Y, Kon K, Sato K, Wada T, Liberty IF, Kirshtein B, Dukhno O, Maixner N, Gepner Y, Sasaoka T, Rudich A", 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