{ "uniprot_canonical_ac": "O95502-1", "uniprot_ac": "O95502", "uniprot_id": "NPTXR_HUMAN", "mass": { "chemical_mass": 52846.0, "monoisotopic_mass": 52846.0 }, "refseq": { "ac": "NP_055108", "name": "neuronal pentraxin receptor", "summary": "This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" }, "gene_names": [ { "name": "NPTXR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95502", "id": "O95502" }, { "name": "NPR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108", "id": "NP_055108" }, { "name": "NPTXR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108", "id": "NP_055108" } ], "protein_names": [ { "name": "Neuronal pentraxin receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95502" }, { "name": "neuronal pentraxin receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108", "id": "NP_055108" } ], "function": [ { "annotation": "Decreased cerebrospinal fluid neuronal pentraxin receptor is associated with PET-Abeta load and cerebrospinal fluid Abeta in a pilot study of Alzheimer's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" }, { "database": "PubMed", "id": "32450185", "url": "https://glygen.org/publication/PubMed/32450185" } ] }, { "annotation": "May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.", "evidence": [ { "database": "UniProtKB", "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502#function" } ] }, { "annotation": "Non-AUG translation initiation site. Comparison of rat determined N-terminal amino acid sequence with cDNA sequence indicates that a CUG codon is used as an initiator codon and codes for a methionine. The CTG is present in cDNAs of mouse, rat, and human.", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" }, { "database": "PubMed", "id": "9261167", "url": "https://glygen.org/publication/PubMed/9261167" } ] }, { "annotation": "Study suggests that NCAM-120, alpha-dystroglycan, and NPR are candidate biomarkers in CSF for neurodegenerative diseases, and that the changes in the CSF level of NPR may be specific for Alzheimer's disease", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" }, { "database": "PubMed", "id": "19368810", "url": "https://glygen.org/publication/PubMed/19368810" } ] }, { "annotation": "The purpose of the present study was to assess the toxic effect of taipoxin in SCLC-cell lines and to determine if toxicity correlates to NPR and NP1 and NP2 expression levels.", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" }, { "database": "PubMed", "id": "16115696", "url": "https://glygen.org/publication/PubMed/16115696" } ] }, { "annotation": "This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1603245346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603245346" }, { "id": "rs1603245346", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1603245346" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 216, "end_pos": 216, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->TLS).", "chr_id": "22", "chr_pos": "38828490", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95502", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95502" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 295, "end_pos": 295, "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": "22", "chr_pos": "38826713", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K295", "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": "rs1018157501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018157501" }, { "id": "rs1018157501", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1018157501" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 305, "end_pos": 305, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYM->NYT).", "chr_id": "22", "chr_pos": "38826684", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M305", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770644558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770644558" }, { "id": "rs770644558", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770644558" }, { "id": "rs770644558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770644558" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 349, "end_pos": 349, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEI->NET).", "chr_id": "22", "chr_pos": "38826552", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200613181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200613181" }, { "id": "rs1200613181", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200613181#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "22", "chr_pos": "38843734", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238795134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238795134" }, { "id": "rs1238795134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1238795134#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 44, "end_pos": 44, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAL).", "chr_id": "22", "chr_pos": "38843728", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1201618291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201618291" }, { "id": "rs1201618291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201618291" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 463, "end_pos": 463, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->KCT).", "chr_id": "22", "chr_pos": "38822723", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760997710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760997710" }, { "id": "rs760997710", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760997710" }, { "id": "rs760997710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760997710" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 463, "end_pos": 463, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->YCT).", "chr_id": "22", "chr_pos": "38822725", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201081137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201081137" }, { "id": "rs201081137", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201081137" }, { "id": "rs201081137", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201081137#frequency_tab" }, { "id": "rs201081137", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201081137" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 465, "end_pos": 465, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCA).", "chr_id": "22", "chr_pos": "38822719", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T465", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "54.77", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "53.89", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "67.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "53.67", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "68.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95502", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95502" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "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, 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": "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95502", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95502" } ], "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 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"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", 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"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": 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95502", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95502" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95502" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502" } ], "common_name": "Human" } ], "gene": [ { "name": "NPTXR", "url": "https://www.uniprot.org/uniprot/O95502", "locus": { "chromosome": "22", "start_pos": 38818452, "end_pos": 38844028, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000221890", "url": "https://www.ensembl.org/id/ENSG00000221890" } ] } } ], "crossref": [ { "id": "ENSG00000221890", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221890", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95502", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95502", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00152", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00152", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NPTXR", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPTXR", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "23467", "url": "https://www.ncbi.nlm.nih.gov/gene/23467", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7954", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7954", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001759", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001759", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013320", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23467", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23467", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "609474", "url": "http://www.omim.org/entry/609474", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95502", "url": "https://www.nextprot.org/entry/NX_O95502", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "IAPWTDQ", "url": "https://omabrowser.org/oma/group/IAPWTDQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4219275at2759", "url": "http://www.orthodb.org/?query=4219275at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19277", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19277", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19277:SF94", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19277:SF94", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00354", "url": "http://pfam.xfam.org/family/PF00354", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95502", "url": "https://pharos.nih.gov/targets/O95502", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050924", "url": "https://proconsortium.org/app/entry/PR:000050924", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O95502", "url": "http://purl.obolibrary.org/obo/PR_O95502", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95502", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A1X7SBT7", "url": "https://www.uniprot.org/uniprot/A0A1X7SBT7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1X7SBT7-1", "url": "https://www.uniprot.org/uniprot/A0A1X7SBT7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95502-1", "url": "https://www.uniprot.org/uniprot/O95502-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKFLAVLLAAGMLAFLGAVICIIASVPLAASPARALPGGADNASVASGAAASPGPQRSLSALHGAGGSAGPPALPGAPAASAHPLPPGPLFSRFLCTPLAAACPSGAQQGDAAGAAPGEREELLLLQSTAEQLRQTALQQEARIRADQDTIRELTGKLGRCESGLPRGLQGAGPRRDTMADGPWDSPALILELEDAVRALRDRIDRLEQELPARVNLSAAPAPVSAVPTGLHSKMDQLEGQLLAQVLALEKERVALSHSSRRQRQEVEKELDVLQGRVAELEHGSSAYSPPDAFKISIPIRNNYMYARVRKALPELYAFTACMWLRSRSSGTGQGTPFSYSVPGQANEIVLLEAGHEPMELLINDKVAQLPLSLKDNGWHHICIAWTTRDGLWSAYQDGELQGSGENLAAWHPIKPHGILILGQEQDTLGGRFDATQAFVGDIAQFNLWDHALTPAQVLGIANCTAPLLGNVLPWEDKLVEAFGGATKAAFDVCKGRAKA", "length": 500, "header": "sp|O95502-1|NPTXR_HUMAN Isoform 1 of Neuronal pentraxin receptor OS=Homo sapiens OX=9606 GN=NPTXR PE=3 SV=2 CANONICAL=O95502-1" }, "isoforms": [ { "isoform_ac": "A0A1X7SBT7-1", "url": "", "sequence": { "sequence": "LKFLAVLLAAGMLAFLGAVICIIASVPLAASPARALPGGADNASVASGAAASPGPQRSLSALHGAGGSAGPPALPGAPAASAHPLPPGPLFSRFLCTPLAAACPSGAQQGDAAGAAPGEREELLLLQSTAEQLRQTALQQEARIRADQDTIRELTGKLGRCESGLPRGLQGAGPRRDTMADGPWDSPALILELEDAVRALRDRIDRLEQELPARVNLSAAPAPVSAVPTGLHSKMDQLEGQLLAQVLALEKERVALSHSSRRQRQEVEKELDVLQGRVAELEHGSSAYSPPDAFKISIPIRNNYMYARVRKALPELYAFTACMWLRSRSSGTGQGTPFSYSVPGQANEIVLLEAGHEPMELLINDKVAQLPLSLKDNGWHHICIAWTTRDGLWSAYQDGELQGSGENLAAWHPIKPHGILILGQEQDTLGGRFDATQAFVGDIAQFNLWDHALTPAQVLGIANCTAPLLGNVLPWEDKLVEAFGGATKAAFDVCKGRAKA", "length": 500, "header": "tr|A0A1X7SBT7-1|NPTXR_HUMAN Computationally mapped isoform of Neuronal pentraxin receptor OS=Homo sapiens OX=9606 GN=NPTXR PE=3 SV=1 CANONICAL=O95502-1" }, "locus": { "chromosome": "22", "start_pos": 38843858, "end_pos": 38822612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000333039", "url": "https://www.ensembl.org/id/ENST00000333039" }, { "database": "Ensembl Peptide", "id": "ENSP00000327545", "url": "https://www.ensembl.org/id/ENSP00000327545" } ] } }, { "isoform_ac": "O95502-1", "url": "", "sequence": { "sequence": "MKFLAVLLAAGMLAFLGAVICIIASVPLAASPARALPGGADNASVASGAAASPGPQRSLSALHGAGGSAGPPALPGAPAASAHPLPPGPLFSRFLCTPLAAACPSGAQQGDAAGAAPGEREELLLLQSTAEQLRQTALQQEARIRADQDTIRELTGKLGRCESGLPRGLQGAGPRRDTMADGPWDSPALILELEDAVRALRDRIDRLEQELPARVNLSAAPAPVSAVPTGLHSKMDQLEGQLLAQVLALEKERVALSHSSRRQRQEVEKELDVLQGRVAELEHGSSAYSPPDAFKISIPIRNNYMYARVRKALPELYAFTACMWLRSRSSGTGQGTPFSYSVPGQANEIVLLEAGHEPMELLINDKVAQLPLSLKDNGWHHICIAWTTRDGLWSAYQDGELQGSGENLAAWHPIKPHGILILGQEQDTLGGRFDATQAFVGDIAQFNLWDHALTPAQVLGIANCTAPLLGNVLPWEDKLVEAFGGATKAAFDVCKGRAKA", "length": 500, "header": "sp|O95502-1|NPTXR_HUMAN Isoform 1 of Neuronal pentraxin receptor OS=Homo sapiens OX=9606 GN=NPTXR PE=3 SV=2 CANONICAL=O95502-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "VNLSAAPAPVSAVPTGLHSK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 215, "start_aa": "Val", "end_pos": 234, "end_aa": "Lys", "evidence": [ { "id": "O95502", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 216, "start_aa": "Asn", "end_pos": 216, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn216", "evidence": [ { "id": "O95502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95502#ptm_processing" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "1556", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1556" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 42, "start_aa": "Asn", "end_pos": 42, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn42", "evidence": [ { "id": "O95502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95502#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 463, "start_aa": "Asn", "end_pos": 463, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn463", "evidence": [ { "id": "O95502", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95502#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SLSALHGAGGSAGPPALPGAPAASAHPLPPGPLFSR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 58, "start_aa": "Ser", "end_pos": 93, "end_aa": "Arg", "evidence": [ { "id": "O95502", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 81, "start_aa": "Ser", "end_pos": 81, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser81", "evidence": [ { "id": "O95502", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen .H", "evidence": [ { "database": "UniCarbKB", "id": "O95502", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin.", "journal": "Lung cancer (Amsterdam, Netherlands)", "date": "2005", "authors": "Poulsen TT, Pedersen N, Perin MS, Hansen CK, Poulsen HS", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" } ], "reference": [ { "type": "PubMed", "id": "16115696", "url": "https://glygen.org/publication/PubMed/16115696" } ] }, { "title": "Neuronal pentraxin receptor in cerebrospinal fluid as a potential biomarker for neurodegenerative diseases.", "journal": "Brain research", "date": "2009", "authors": "Yin GN, Lee HW, Cho JY, Suk K", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" } ], "reference": [ { "type": "PubMed", "id": "19368810", "url": "https://glygen.org/publication/PubMed/19368810" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O95502", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1556", "url": "https://glyconnect.expasy.org/browser/proteins/1556" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O95502", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Decreased cerebrospinal fluid neuronal pentraxin receptor is associated with PET-Abeta load and cerebrospinal fluid Abeta in a pilot study of Alzheimer's disease.", "journal": "Neuroscience letters", "date": "2020", "authors": "Lim B, Fowler C, Li QX, Rowe C, Dhiman K, Gupta VB, Masters CL, Doecke JD, Martins RN, Collins S, Diamandis EP", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" } ], "reference": [ { "type": "PubMed", "id": "32450185", "url": "https://glygen.org/publication/PubMed/32450185" } ] }, { "title": "Neuronal pentraxin receptor, a novel putative integral membrane pentraxin that interacts with neuronal pentraxin 1 and 2 and taipoxin-associated calcium-binding protein 49.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Dodds DC, Omeis IA, Cushman SJ, Helms JA, Perin MS", "evidence": [ { "database": "RefSeq", "id": "NP_055108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055108" } ], "reference": [ { "type": "PubMed", "id": "9261167", "url": "https://glygen.org/publication/PubMed/9261167" } ] } ], "pathway": [ { "id": "hsa:23467", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23467", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "regulation of postsynaptic neurotransmitter receptor activity", "id": "GO:0098962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098962", "evidence": [ { "database": "UniProtKB", "id": "O95502", "url": "https://www.uniprot.org/uniprot/O95502" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "neuronal pentraxin receptor O-glycosylated 1 (human)", "definition": "A neuronal pentraxin receptor (human) that has been O-glycosylated at the residue equivalent to Ser-81 of the amino acid sequence represented by UniProtKB:O95502-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O95502-1, Ser-81, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050924", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050924" } ] } ], "site_annotation": [ { "start_pos": 216, "end_pos": 218, "annotation": "n_glycosylation_sequon" }, { "start_pos": 42, "end_pos": 44, "annotation": "n_glycosylation_sequon" }, { "start_pos": 463, "end_pos": 465, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }