{ "uniprot_canonical_ac": "O15040-1", "uniprot_ac": "O15040", "uniprot_id": "TCPR2_HUMAN", "mass": { "chemical_mass": 153848.0, "monoisotopic_mass": 153848.0 }, "refseq": { "ac": "NP_001166102", "name": "tectonin beta-propeller repeat-containing protein 2 isoform 2", "summary": "The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" }, "gene_names": [ { "name": "TECPR2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15040", "id": "O15040" }, { "name": "HSAN9; KIAA0329; SPG49", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102", "id": "NP_001166102" }, { "name": "KIAA0297", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15040", "id": "O15040" }, { "name": "KIAA0329", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15040", "id": "O15040" }, { "name": "TECPR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102", "id": "NP_001166102" } ], "protein_names": [ { "name": "Tectonin beta-propeller repeat-containing protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15040" }, { "name": "WD repeat-containing protein KIAA0329/KIAA0297", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15040" }, { "name": "tectonin beta-propeller repeat-containing protein 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102", "id": "NP_001166102" }, { "name": "tectonin beta-propeller repeat-containing protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102", "id": "NP_001166102" } ], "function": [ { "annotation": "Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" }, { "database": "PubMed", "id": "33847017", "url": "https://glygen.org/publication/PubMed/33847017" } ] }, { "annotation": "Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2.", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" }, { "database": "PubMed", "id": "33213269", "url": "https://glygen.org/publication/PubMed/33213269" } ] }, { "annotation": "Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles.", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" }, { "database": "PubMed", "id": "34933910", "url": "https://glygen.org/publication/PubMed/34933910" } ] }, { "annotation": "Probably plays a role as positive regulator of autophagy.", "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040#function" }, { "database": "PubMed", "id": "23176824", "url": "https://glygen.org/publication/PubMed/23176824" } ] }, { "annotation": "Results show that TECPR2 associates with several trafficking components as SEC24D and cooperates with LC3C to regulate ER exit sites and ER export suggesting that TECPR2 functions as molecular scaffold linking early secretion pathway and autophagy.", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" }, { "database": "PubMed", "id": "26431026", "url": "https://glygen.org/publication/PubMed/26431026" } ] }, { "annotation": "The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" }, { "database": "PubMed", "id": "23176824", "url": "https://glygen.org/publication/PubMed/23176824" } ] }, { "annotation": "The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" } ] } ], "disease": [ { "disease_id": "DOID:0110801", "recommended_name": { "id": "DOID:0110801", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110801", "name": "hereditary spastic paraplegia 49", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32." }, "synonyms": [ { "id": "DOID:0110801", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110801", "name": "SPG49", "description": "" }, { "id": "DOID:0110801", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110801", "name": "autosomal recessive spastic paraplegia 49", "description": "" }, { "id": "DOID:0110801", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110801", "name": "autosomal recessive spastic paraplegia type 49", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "hereditary spastic paraplegia 49", "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "SPG49", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "TECPR2 hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "autosomal recessive spastic paraplegia 49", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "autosomal recessive spastic paraplegia type 49", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "hereditary spastic paraplegia 49", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "hereditary spastic paraplegia caused by mutation in TECPR2", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "hereditary spastic paraplegia type 49", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay", "description": "" }, { "id": "MONDO:0014016", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014016", "name": "spastic paraplegia 49, autosomal recessive", "description": "" }, { "id": "MIM:615031", "resource": "MIM", "url": "https://www.omim.org/entry/615031", "name": "Neuropathy, hereditary sensory and autonomic, 9, with developmental delay", "description": "Neuropathy, hereditary sensory and autonomic, 9, with developmental delay" } ], "evidence": [ { "id": "615031", "database": "MIM", "url": "https://www.omim.org/entry/615031" } ] } ], "snv": [ { "evidence": [ { "id": "rs1567347061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567347061" }, { "id": "rs1567347061", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567347061" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1027, "end_pos": 1027, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "14", "chr_pos": "102449633", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1027", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1482724789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482724789" }, { "id": "rs1482724789", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482724789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1087, "end_pos": 1087, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "14", "chr_pos": "102449812", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747893184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747893184" }, { "id": "rs747893184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747893184" }, { "id": "rs747893184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747893184" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1150, "end_pos": 1150, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "14", "chr_pos": "102452436", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1150", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1484834472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1484834472" }, { "id": "rs1484834472", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1484834472#frequency_tab" }, { "id": "rs1484834472", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1484834472" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 121, "end_pos": 121, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "14", "chr_pos": "102408500", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15040", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15040" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1248, "end_pos": 1248, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "14", "chr_pos": "102465243", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1248", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768252426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768252426" }, { "id": "rs768252426", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768252426" }, { "id": "rs768252426", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768252426#frequency_tab" }, { "id": "rs768252426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768252426" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1248, "end_pos": 1248, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "14", "chr_pos": "102465242", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759279744", "database": "dbSNP", "url": 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"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", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "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, 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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15040" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15040" } ], "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": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"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": "O15040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15040" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15040", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15040" } ], "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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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040" } ], "common_name": "Human" } ], "gene": [ { "name": "TECPR2", "url": "https://www.uniprot.org/uniprot/O15040", "locus": { "chromosome": "14", "start_pos": 102502477, "end_pos": 102362941, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000196663", "url": "https://www.ensembl.org/id/ENSG00000196663" } ] } } ], "crossref": [ { "id": "ENSG00000196663", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196663", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15040", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15040", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "TECPR2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECPR2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9895", "url": "https://www.ncbi.nlm.nih.gov/gene/9895", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "19957", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=19957", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15040", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15040*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001680", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006624", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006624", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009091", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009091", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9895", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9895", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "615000", "url": "http://www.omim.org/entry/615000", "database": "MIM", "categories": [ "Other" ] }, { "id": "615031", "url": "http://www.omim.org/entry/615031", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15040", "url": "https://www.nextprot.org/entry/NX_O15040", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15040", "url": "https://oglcnac.org/atlas/detail/O15040", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15040", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15040", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WFRTGVC", "url": "https://omabrowser.org/oma/group/WFRTGVC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3675109at2759", "url": "http://www.orthodb.org/?query=3675109at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23287", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23287", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23287:SF16", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23287:SF16", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF06462", "url": "http://pfam.xfam.org/family/PF06462", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19193", "url": "http://pfam.xfam.org/family/PF19193", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15040", "url": "https://pharos.nih.gov/targets/O15040", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15040", "url": "http://purl.obolibrary.org/obo/PR_O15040", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15040-1", "url": "https://www.uniprot.org/uniprot/O15040-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15040-2", "url": "https://www.uniprot.org/uniprot/O15040-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASISEPVTFREFCPLYYLLNAIPTKIQKGFRSIVVYLTALDTNGDYIAVGSSIGMLYLYCRHLNQMRKYNFEGKTESITVVKLLSCFDDLVAAGTASGRVAVFQLVSSLPGRNKQLRRFDVTGIHKNSITALAWSPNGMKLFSGDDKGKIVYSSLDLDQGLCNSQLVLEEPSSIVQLDYSQKVLLVSTLQRSLLFYTEEKSVRQIGTQPRKSTGKFGACFIPGLCKQSDLTLYASRPGLRLWKADVHGTVQATFILKDAFAGGVKPFELHPRLESPNSGSCSLPERHLGLVSCFFQEGWVLSWNEYSIYLLDTVNQATVAGLEGSGDIVSVSCTENEIFFLKGDRNIIRISSRPEGLTSTVRDGLEMSGCSERVHVQQAEKLPGATVSETRLRGSSMASSVASEPRSRSSSLNSTDSGSGLLPPGLQATPELGKGSQPLSQRFNAISSEDFDQELVVKPIKVKRKKKKKKTEGGSRSTCHSSLESTPCSEFPGDSPQSLNTDLLSMTSSVLGSSVDQLSAESPDQESSFNGEVNGVPQENTDPETFNVLEVSGSMPDSLAEEDDIRTEMPHCHHAHGRELLNGAREDVGGSDVTGLGDEPCPADDGPNSTQLPFQEQDSSPGAHDGEDIQPIGPQSTFCEVPLLNSLTVPSSLSWAPSAEQWLPGTRADEGSPVEPSQEQDILTSMEASGHLSTNLWHAVTDDDTGQKEIPISERVLGSVGGQLTPVSALAASTHKPWLEQPPRDQTLTSSDEEDIYAHGLPSSSSETSVTELGPSCSQQDLSRLGAEDAGLLKPDQFAESWMGYSGPGYGILSLVVSEKYIWCLDYKGGLFCSALPGAGLRWQKFEDAVQQVAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVALSDDTAWIIRTSGDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNNVVWALTEQRALLYREGVSSFCPEGEQWKCDIVSERQALEPVCITLGDQQTLWALDIHGNLWFRTGIISKKPQGDDDHWWQVSITDYVVFDQCSLFQTIIHATHSVATAAQAPVEKVADKLRMAFWSQQLQCQPSLLGVNNSGVWISSGKNEFHVAKGSLIGTYWNHVVPRGTASATKWAFVLASAAPTKEGSFLWLCQSSKDLCSVSAQSAQSRPSTVQLPPEAEMRAYAACQDALWALDSLGQVFIRTLSKSCPTGMHWTRLDLSQLGAVKLTSLACGNQHIWACDSRGGVYFRVGTQPLNPSLMLPAWIMIEPPVQPAGVSLVSVHSSPNDQMLWVLDSRWNVHVRTGITEEMPVGTAWEHVPGLQACQLALSTRTVWARCPNGDLARRYGVTDKNPAGDYWKKIPGSVSCFTVTASDELWAVGPPGYLLQRLTKTFSHSHGTQKSSQAAMPHPEDLEDEWEVI", "length": 1411, "header": "sp|O15040-1|TCPR2_HUMAN Isoform 1 of Tectonin beta-propeller repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=TECPR2 PE=1 SV=4 CANONICAL=O15040-1" }, "isoforms": [ { "isoform_ac": "O15040-1", "url": "", "sequence": { "sequence": "MASISEPVTFREFCPLYYLLNAIPTKIQKGFRSIVVYLTALDTNGDYIAVGSSIGMLYLYCRHLNQMRKYNFEGKTESITVVKLLSCFDDLVAAGTASGRVAVFQLVSSLPGRNKQLRRFDVTGIHKNSITALAWSPNGMKLFSGDDKGKIVYSSLDLDQGLCNSQLVLEEPSSIVQLDYSQKVLLVSTLQRSLLFYTEEKSVRQIGTQPRKSTGKFGACFIPGLCKQSDLTLYASRPGLRLWKADVHGTVQATFILKDAFAGGVKPFELHPRLESPNSGSCSLPERHLGLVSCFFQEGWVLSWNEYSIYLLDTVNQATVAGLEGSGDIVSVSCTENEIFFLKGDRNIIRISSRPEGLTSTVRDGLEMSGCSERVHVQQAEKLPGATVSETRLRGSSMASSVASEPRSRSSSLNSTDSGSGLLPPGLQATPELGKGSQPLSQRFNAISSEDFDQELVVKPIKVKRKKKKKKTEGGSRSTCHSSLESTPCSEFPGDSPQSLNTDLLSMTSSVLGSSVDQLSAESPDQESSFNGEVNGVPQENTDPETFNVLEVSGSMPDSLAEEDDIRTEMPHCHHAHGRELLNGAREDVGGSDVTGLGDEPCPADDGPNSTQLPFQEQDSSPGAHDGEDIQPIGPQSTFCEVPLLNSLTVPSSLSWAPSAEQWLPGTRADEGSPVEPSQEQDILTSMEASGHLSTNLWHAVTDDDTGQKEIPISERVLGSVGGQLTPVSALAASTHKPWLEQPPRDQTLTSSDEEDIYAHGLPSSSSETSVTELGPSCSQQDLSRLGAEDAGLLKPDQFAESWMGYSGPGYGILSLVVSEKYIWCLDYKGGLFCSALPGAGLRWQKFEDAVQQVAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVALSDDTAWIIRTSGDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNNVVWALTEQRALLYREGVSSFCPEGEQWKCDIVSERQALEPVCITLGDQQTLWALDIHGNLWFRTGIISKKPQGDDDHWWQVSITDYVVFDQCSLFQTIIHATHSVATAAQAPVEKVADKLRMAFWSQQLQCQPSLLGVNNSGVWISSGKNEFHVAKGSLIGTYWNHVVPRGTASATKWAFVLASAAPTKEGSFLWLCQSSKDLCSVSAQSAQSRPSTVQLPPEAEMRAYAACQDALWALDSLGQVFIRTLSKSCPTGMHWTRLDLSQLGAVKLTSLACGNQHIWACDSRGGVYFRVGTQPLNPSLMLPAWIMIEPPVQPAGVSLVSVHSSPNDQMLWVLDSRWNVHVRTGITEEMPVGTAWEHVPGLQACQLALSTRTVWARCPNGDLARRYGVTDKNPAGDYWKKIPGSVSCFTVTASDELWAVGPPGYLLQRLTKTFSHSHGTQKSSQAAMPHPEDLEDEWEVI", "length": 1411, "header": "sp|O15040-1|TCPR2_HUMAN Isoform 1 of Tectonin beta-propeller repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=TECPR2 PE=1 SV=4 CANONICAL=O15040-1" }, "locus": { "chromosome": "14", "start_pos": 102498254, "end_pos": 102376722, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359520.12", "url": "https://www.ensembl.org/id/ENST00000359520.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000352510.7", "url": "https://www.ensembl.org/id/ENSP00000352510.7" } ] } }, { "isoform_ac": "O15040-2", "url": "", "sequence": { "sequence": "MASISEPVTFREFCPLYYLLNAIPTKIQKGFRSIVVYLTALDTNGDYIAVGSSIGMLYLYCRHLNQMRKYNFEGKTESITVVKLLSCFDDLVAAGTASGRVAVFQLVSSLPGRNKQLRRFDVTGIHKNSITALAWSPNGMKLFSGDDKGKIVYSSLDLDQGLCNSQLVLEEPSSIVQLDYSQKVLLVSTLQRSLLFYTEEKSVRQIGTQPRKSTGKFGACFIPGLCKQSDLTLYASRPGLRLWKADVHGTVQATFILKDAFAGGVKPFELHPRLESPNSGSCSLPERHLGLVSCFFQEGWVLSWNEYSIYLLDTVNQATVAGLEGSGDIVSVSCTENEIFFLKGDRNIIRISSRPEGLTSTVRDGLEMSGCSERVHVQQAEKLPGATVSETRLRGSSMASSVASEPRSRSSSLNSTDSGSGLLPPGLQATPELGKGSQPLSQRFNAISSEDFDQELVVKPIKVKRKKKKKKTEGGSRSTCHSSLESTPCSEFPGDSPQSLNTDLLSMTSSVLGSSVDQLSAESPDQESSFNGEVNGVPQENTDPETFNVLEVSGSMPDSLAEEDDIRTEMPHCHHAHGRELLNGAREDVGGSDVTGLGDEPCPADDGPNSTQLPFQEQDSSPGAHDGEDIQPIGPQSTFCEVPLLNSLTVPSSLSWAPSAEQWLPGTRADEGSPVEPSQEQDILTSMEASGHLSTNLWHAVTDDDTGQKEIPISERVLGSVGGQLTPVSALAASTHKPWLEQPPRDQTLTSSDEEDIYAHGLPSSSSETSVTELGPSCSQQDLSRLGAEDAGLLKPDQFAESWMGYSGPGYGILSLVVSEKYIWCLDYKGGLFCSALPGAGLRWQKFEDAVQQVAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVALSDDTAWIIRTSGDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNNVVWALTEQRALLYREGVSSFCPEGEQWKCDIVSERQALEPVCITLGDQQTLWALDIHGNLWFRTGIISKKPQGDDDHWWQVSITDYVVFDQCSLFQTIIHATHSVATAAQAPVEKVADKLRMAFWSQQLQCQPSLLGVNNSGVWISSGKNEFHVAKGSLIGTYWNHVVPRGTASATKWAFVLASAAPTKEGSFLWLCQSSKDLCSVSAQSAQSRPSTVQLPPEAEMRAYAACQDALWALDSLGQVFIRTLSKSCPTGMHWTRLDLSQLGAVKLTSLACGNQHIWACDSRGGVYFRVGTQPLNPSLMLPAWIMIEPPVQVSRS", "length": 1267, "header": "sp|O15040-2|TCPR2_HUMAN Isoform 2 of Tectonin beta-propeller repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=TECPR2 PE=1 SV=4 CANONICAL=O15040-1" }, "locus": { "chromosome": "14", "start_pos": 102465301, "end_pos": 102376722, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558678.1", "url": "https://www.ensembl.org/id/ENST00000558678.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453671.1", "url": "https://www.ensembl.org/id/ENSP00000453671.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 387, "start_aa": "Thr", "end_pos": 387, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr387", "evidence": [ { "id": "O15040", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15040" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "O15040", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15040" } ] } ], "phosphorylation": [ { "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15040", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15040" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser33" }, { "start_pos": 448, "end_pos": 448, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O15040", "url": "http://phospho.elm.eu.org/byAccession/O15040.html" }, { "database": "iPTMnet", "id": "O15040", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15040" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser448" }, { "start_pos": 449, "end_pos": 449, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O15040", "url": "http://phospho.elm.eu.org/byAccession/O15040.html" }, { "database": "iPTMnet", "id": "O15040", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15040" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser449" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O15040", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15040" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Network organization of the human autophagy system.", "journal": "Nature", "date": "2010", "authors": "Behrends C, Sowa ME, Gygi SP, Harper JW", "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040" } ], "reference": [ { "type": "PubMed", "id": "20562859", "url": "https://glygen.org/publication/PubMed/20562859" } ] }, { "title": "Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.", "journal": "American journal of human genetics", "date": "2012", "authors": "Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D", "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040" }, { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" } ], "reference": [ { "type": "PubMed", "id": "23176824", "url": "https://glygen.org/publication/PubMed/23176824" } ] }, { "title": "TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.", "journal": "Molecular cell", "date": "2015", "authors": "Stadel D, Millarte V, Tillmann KD, Huber J, Tamin-Yecheskel BC, Akutsu M, Demishtein A, Ben-Zeev B, Anikster Y, Perez F, Dotsch V, Elazar Z, Rogov V, Farhan H, Behrends C", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" } ], "reference": [ { "type": "PubMed", "id": "26431026", "url": "https://glygen.org/publication/PubMed/26431026" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15040", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15040" }, { "database": "O-GlcNAc Atlas", "id": "O15040", "url": "https://oglcnac.org/atlas/detail/O15040" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2.", "journal": "Autophagy", "date": "2021", "authors": "Fraiberg M, Tamim-Yecheskel BC, Kokabi K, Subic N, Heimer G, Eck F, Nalbach K, Behrends C, Ben-Zeev B, Shatz O, Elazar Z", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" } ], "reference": [ { "type": "PubMed", "id": "33213269", "url": "https://glygen.org/publication/PubMed/33213269" } ] }, { "title": "Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.", "journal": "Human mutation", "date": "2021", "authors": "Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Munoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" } ], "reference": [ { "type": "PubMed", "id": "33847017", "url": "https://glygen.org/publication/PubMed/33847017" } ] }, { "title": "Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles.", "journal": "Journal of medical genetics", "date": "2022-10", "authors": "Shalev Ido, Somekh Judith, Eran Alal", "evidence": [ { "database": "RefSeq", "id": "NP_001166102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166102" } ], "reference": [ { "type": "PubMed", "id": "34933910", "url": "https://glygen.org/publication/PubMed/34933910" } ] } ], "pathway": [ { "id": "hsa:9895", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9895", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A6U4-1", "protein_name": "Tectonin beta-propeller repeat containing 2", "gene_name": "Tecpr2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASVSEPVTFREFCPLYYLLNAIPTKIQRGFRSIVVYLTALDTNGDYIAVGSSIGMLYLYCRHLNQMKKYNFEGKTESITVVKLLSCFDDLVAVGTASGRVAVFQLVSSLPGRNKQLRRFDVTGVHKTSITALAWSPNGMKLFSGDDKGKIVYSSLDLDQGICNSHLVLEEPSSIVQLDYSQKVLLVSTLQRSLLFYTEEKAVKQIGSQPRKSTGKFGACFIPGLCKQSDLTLYAARPGLRLWKADVHGTVQATFILKDVFAGGVTPFELYPRLEPSDGGSCSAPEKHLGLVSCFFQEGWVLSWNEYSIYLLDTVNQATVAGLEGLGDIVSVSCTENEIFFLKGDRNIIRISSRPEGLASIVRDSPEMARCSEQVHGQHLEKSLGGTVCEARLRGSSVASSVASEQRSRSSSFNSTDSGSGLLPPGSQAAPELGHSGQPSSQRFSVISSEDFDQELIVKPIKVKKRRRKRKPEGGSKSTCHSSLESTPCSELPADSPQSLSTDLVSLASSVLSGSSVDQLSTEPPDQEISPSGELDGIIQDNNGPQTLHDLEVPGSTPSPVDEENSPRKEASQCDHTQDTDLLKGVLTLPLQPGEDEGDADVTSELEEKPGPAADAAIHTELCLQEQNSSAEQQEVDTMEFSDPQSTFSEAPLLDSSMLPASLSWPPGAEQWLPEIEGYEVSTEEASPEADILTQAEVPSHLSSNPWHLLTDSQKEAPAFECDMGNVKGQVTPLTSALVANTHAHWLDQPFQDQAVTSSDEEDIYAHRLPSSSSETSVTELGAGRSLQDLSQPGAEETSLLKADQFAESWMGYSGPGYGILSLAVSEKFIWCLDYKGGLFCSALPGAGLRWQRFEDAVQQMAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVTLSDDTAWIIRTNGDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNSVVWALTEQRALLYREGVSSFCPEGEQWKCDIVSERQALEPVCITLGDQHTLWALDIHGKLWFRTGVIPKKPQGDDDHWWQVSITDYVVFDQCSLFQTIMHATHSVATAAQAPVEKVADKLRMAFWSQQLQCQPSLLGVNKSGVWISSGKNEFHVAKGSLIGTYWNNVVPRGTASATKWAFVLASPAPTQDGSSLWLCQSSKDLCVLSAQSAQCRPSTVQLPPDAEMRTYAACQDALWALDSLGQVFIRTLSKSCPTGMHWTKLDLSQLGAVRLTSLACGNEHIWACDSKGGLYFRVGTQPLNPSLMLPAWITIEPPVQLAGVTLVSVHSSPNDQMLWALDSRWNVHVRTGVTEEMPVGTDWEHVPGLQACQLALSTRTVWARCPNGDLARRYGITDKNPAGDYWKKIPGNVSCFTVTSSDELWAVGSSGCLLQRLTKTFSHSHNTQNNQAATSHPEELEDEWEVI", "length": 1417 }, "evidence": [ { "id": "45926514", "url": "http://www.informatics.jax.org/homology/45926514", "database": "MGI" }, { "id": "O15040", "url": "https://omabrowser.org/oma/group/O15040/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q3UH45-1", "protein_name": "Tectonin beta-propeller repeat containing 2", "gene_name": "Tecpr2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"length": 1423 }, "evidence": [ { "id": "45926514", "url": "http://www.informatics.jax.org/homology/45926514", "database": "MGI" }, { "id": "O15040", "url": "https://omabrowser.org/oma/group/O15040/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040" } ], "pmid": "" }, { "name": "protein exit from endoplasmic reticulum", "id": "GO:0032527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032527", "evidence": [ { "database": "UniProtKB", "id": "O15040", "url": "https://www.uniprot.org/uniprot/O15040" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1084, "end_pos": 1086, "annotation": "n_glycosylation_sequon" }, { "start_pos": 414, "end_pos": 416, "annotation": "n_glycosylation_sequon" }, { "start_pos": 609, "end_pos": 611, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 387 ], "snv_sites": [ 67, 121, 129, 279, 318, 333, 387, 476, 585, 619, 777, 873, 901, 1027, 1087, 1150, 1248, 1385 ], "glycation_sites": [], "phosphorylation_sites": [ 33, 448, 449 ], "sequon_annotation_sites": [ { "start_pos": 1084, "end_pos": 1086 }, { "start_pos": 414, "end_pos": 416 }, { "start_pos": 609, "end_pos": 611 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 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": "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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 18 } ], "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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 15 }, { "field": "total_sites", "count": 15 } ], "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" ] } ] }