{ "uniprot_canonical_ac": "Q9BRN9-1", "uniprot_ac": "Q9BRN9", "uniprot_id": "TM2D3_HUMAN", "mass": { "chemical_mass": 27118.0, "monoisotopic_mass": 27118.0 }, "refseq": { "ac": "NP_001294955", "name": "TM2 domain-containing protein 3 isoform d precursor", "summary": "The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" }, "gene_names": [ { "name": "TM2D3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9BRN9", "id": "Q9BRN9" }, { "name": "BLP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417", "id": "NP_079417" }, { "name": "BLP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BRN9", "id": "Q9BRN9" }, { "name": "TM2D3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417", "id": "NP_079417" }, { "name": "hCG_26600", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9BRN9", "id": "Q9BRN9" } ], "protein_names": [ { "name": "TM2 domain-containing protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9BRN9" }, { "name": "BBP-like protein 2; TM2 domain-containing protein 3; beta-amyloid-binding protein-like protein 2; almondex homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955", "id": "NP_001294955" }, { "name": "BBP-like protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BRN9" }, { "name": "Beta-amyloid-binding protein-like protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BRN9" }, { "name": "TM2 domain-containing protein 3 isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417", "id": "NP_079417" }, { "name": "TM2 domain-containing protein 3 isoform c precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889", "id": "NP_001294889" }, { "name": "TM2 domain-containing protein 3 isoform d precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955", "id": "NP_001294955" } ], "function": [ { "annotation": "Our approach yielded 26 candidate genes differentially expressed between patients (Osteoarthritis) and controls. BLP2 and CIAS1 seem to be trans-regulated, as the absence of allelic expression imbalances suggests.", "evidence": [ { "database": "RefSeq", "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417" }, { "database": "PubMed", "id": "16642435", "url": "https://glygen.org/publication/PubMed/16642435" }, { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_001294955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" } ] }, { "annotation": "Our results establish a rare TM2D3 variant in association with late-onset Alzheimer's disease susceptibility, and together with prior work suggests possible links to the beta-amyloid cascade Erratum:[PLoS Genet. 2016 Nov 28;12 (11):e1006456. PMID: 27893753] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417" }, { "database": "PubMed", "id": "27764101", "url": "https://glygen.org/publication/PubMed/27764101" }, { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_001294955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" } ] }, { "annotation": "The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417" }, { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_001294955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" } ] }, { "annotation": "These findings indicated that the TT genotype and T allele frequencies of TM2D3 rs675436 were associated with an increased risk of Epstein-Barr virus-associated gastric carcinoma, while allele A or G of FGFR2 rs755793 had no effect on the occurrence of Epstein-Barr virus-associated tumors in Chinese Han population.", "evidence": [ { "database": "RefSeq", "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417" }, { "database": "PubMed", "id": "29446487", "url": "https://glygen.org/publication/PubMed/29446487" }, { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_001294955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs781185063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781185063" }, { "id": "rs781185063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781185063" }, { "id": "rs781185063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781185063#frequency_tab" }, { "id": "rs781185063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781185063" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 120, "end_pos": 120, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "15", "chr_pos": "101646868", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1267321849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267321849" }, { "id": "rs1267321849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267321849" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->DMT).", "chr_id": "15", "chr_pos": "101646863", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304801416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304801416" }, { "id": "rs1304801416", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304801416" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 140, "end_pos": 140, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "15", "chr_pos": "101646808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9BRN9", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BRN9" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 142, "end_pos": 142, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "15", "chr_pos": "101646803", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T142", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1165567926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165567926" }, { "id": "rs1165567926", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165567926#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 159, "end_pos": 159, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCA).", "chr_id": "15", "chr_pos": "101646752", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9BRN9", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BRN9" }, { "id": "rs144526936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144526936" }, { "id": "rs144526936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144526936" }, { "id": "rs144526936", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144526936" }, { "id": "rs144526936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144526936#frequency_tab" }, { "id": "rs144526936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144526936" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 159, "end_pos": 159, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCT->NCM).", "chr_id": "15", "chr_pos": "101646751", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T159", "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", "ebi" ] }, { "evidence": [ { "id": "rs758043335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758043335" }, { "id": "rs758043335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758043335" }, { "id": "rs758043335", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758043335#frequency_tab" }, { "id": "rs758043335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758043335" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 46, "end_pos": 46, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "101651728", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151143463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151143463" }, { "id": "rs151143463", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151143463" }, { "id": "rs151143463", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151143463" }, { "id": "rs151143463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151143463#frequency_tab" }, { "id": "rs151143463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151143463" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->DFS).", "chr_id": "15", "chr_pos": "101650072", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764687650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764687650" }, { "id": "rs764687650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764687650" }, { "id": "rs764687650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764687650#frequency_tab" }, { "id": "rs764687650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764687650" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "15", "chr_pos": "101650071", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs151143463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151143463" }, { "id": "rs151143463", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151143463" }, { "id": "rs151143463", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151143463" }, { "id": "rs151143463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151143463#frequency_tab" }, { "id": "rs151143463", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151143463" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->YFS).", "chr_id": "15", "chr_pos": "101650072", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201592525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201592525" }, { "id": "rs201592525", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201592525" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 89, "end_pos": 89, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFA).", "chr_id": "15", "chr_pos": "101646884", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147649783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147649783" }, { "id": "rs147649783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147649783" }, { "id": "rs147649783", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147649783#frequency_tab" }, { "id": "rs147649783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147649783" }, { "id": "rs1435834852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1435834852" }, { "id": "rs1435834852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1435834852#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 89, "end_pos": 89, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFF).", "chr_id": "15", "chr_pos": "101646883", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S89", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184277", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184277" } ] }, { "tissue": { "name": "Prostate gland", 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"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 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9BRN9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BRN9" } ], "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": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q9BRN9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BRN9" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9BRN9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BRN9" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ 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"http://pfam.xfam.org/family/PF05154", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9BRN9", "url": "https://pharos.nih.gov/targets/Q9BRN9", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9BRN9", "url": "http://purl.obolibrary.org/obo/PR_Q9BRN9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9BRN9", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "B3KT51", "url": "https://www.uniprot.org/uniprot/B3KT51", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3KT51-1", "url": "https://www.uniprot.org/uniprot/B3KT51-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EPS7", "url": "https://www.uniprot.org/uniprot/E7EPS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EPS7-1", "url": 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"tr|E7EPS7-1|TM2D3_HUMAN Computationally mapped isoform of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=1 CANONICAL=Q9BRN9-1" }, "locus": { "chromosome": "15", "start_pos": 101652361, "end_pos": 101633680, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428002.6", "url": "https://www.ensembl.org/id/ENST00000428002.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000402179.2", "url": "https://www.ensembl.org/id/ENSP00000402179.2" } ] } }, { "isoform_ac": "H0YM84-1", "url": "", "sequence": { "sequence": "MAGGVLPLRGLRALCRVLLFLSQFCILSGGGESKAGFSAGWG", "length": 42, "header": "tr|H0YM84-1|TM2D3_HUMAN Computationally mapped isoform of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=1 CANONICAL=Q9BRN9-1" }, "locus": {} }, { "isoform_ac": "H0YNF6-1", "url": "", "sequence": { "sequence": "XSTEIPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAVKPSVTCVDQDFKSQKNFIINMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTVRDHVHCLGNRTFPKMLYCNWTGGYKWSTALALRVGLFIDTVTTPLHSSLSHRARHCL", "length": 161, "header": "tr|H0YNF6-1|TM2D3_HUMAN Computationally mapped isoform of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=1 CANONICAL=Q9BRN9-1" }, "locus": { "chromosome": "15", "start_pos": 101650161, "end_pos": 101636861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558129.5", "url": "https://www.ensembl.org/id/ENST00000558129.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453990.1", "url": "https://www.ensembl.org/id/ENSP00000453990.1" } ] } }, { "isoform_ac": "H0YNS4-1", "url": "", "sequence": { "sequence": "MAGGVLPLRGLRALCRVLLFLSQFCILSGGEQSQALAQSIKDPGPTRTFTVVPRAAESTEIPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAVKPSVTCVDQDFKSQKNFIINMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTVRDHVHCLGNRTFPKMLYCNWTGGYKWSTALALSLQAQVGLHVQLTVGLH", "length": 209, "header": "tr|H0YNS4-1|TM2D3_HUMAN Computationally mapped isoform of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=1 CANONICAL=Q9BRN9-1" }, "locus": { "chromosome": "15", "start_pos": 101652361, "end_pos": 101633680, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559107.5", "url": "https://www.ensembl.org/id/ENST00000559107.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454131.1", "url": "https://www.ensembl.org/id/ENSP00000454131.1" } ] } }, { "isoform_ac": "H3BSX6-1", "url": "", "sequence": { "sequence": "XQFCILSGGGESKAGFSAGWG", "length": 21, "header": "tr|H3BSX6-1|TM2D3_HUMAN Computationally mapped isoform of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=1 CANONICAL=Q9BRN9-1" }, "locus": { "chromosome": "15", "start_pos": 101652297, "end_pos": 101652235, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558677.5", "url": "https://www.ensembl.org/id/ENST00000558677.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456921.1", "url": "https://www.ensembl.org/id/ENSP00000456921.1" } ] } }, { "isoform_ac": "Q9BRN9-1", "url": "", "sequence": { "sequence": "MAGGVLPLRGLRALCRVLLFLSQFCILSGGEQSQALAQSIKDPGPTRTFTVVPRAAESTEIPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAVKPSVTCVDQDFKSQKNFIINMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTVRDHVHCLGNRTFPKMLYCNWTGGYKWSTALALSITLGGFGADRFYLGQWREGLGKLFSFGGLGIWTLIDVLLIGVGYVGPADGSLYI", "length": 247, "header": "sp|Q9BRN9-1|TM2D3_HUMAN Isoform 1 of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=2 CANONICAL=Q9BRN9-1" }, "locus": { "chromosome": "15", "start_pos": 101652361, "end_pos": 101642482, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000333202.8", "url": "https://www.ensembl.org/id/ENST00000333202.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000330433.3", "url": "https://www.ensembl.org/id/ENSP00000330433.3" } ] } }, { "isoform_ac": "Q9BRN9-2", "url": "", "sequence": { "sequence": "MAGGVLPLRGLRALCRVLLFLSQFCILSGGESTEIPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAVKPSVTCVDQDFKSQKNFIINMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTVRDHVHCLGNRTFPKMLYCNWTGGYKWSTALALSITLGGFGADRFYLGQWREGLGKLFSFGGLGIWTLIDVLLIGVGYVGPADGSLYI", "length": 221, "header": "sp|Q9BRN9-2|TM2D3_HUMAN Isoform 2 of TM2 domain-containing protein 3 OS=Homo sapiens OX=9606 GN=TM2D3 PE=2 SV=2 CANONICAL=Q9BRN9-1" }, "locus": { "chromosome": "15", "start_pos": 101652361, "end_pos": 101642482, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000347970.7", "url": "https://www.ensembl.org/id/ENST00000347970.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000327584.3", "url": "https://www.ensembl.org/id/ENSP00000327584.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "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": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "Q9BRN9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BRN9#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 148, "start_aa": "Ser", "end_pos": 148, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser148", "evidence": [ { "id": "Q9BRN9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BRN9" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "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": "", "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 169, "start_aa": "Asn", "end_pos": 169, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn169", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "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": "", "start_pos": 169, "start_aa": "Asn", "end_pos": 169, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn169", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AQSIKDPGPTRTF", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 37, "start_aa": "Ala", "end_pos": 49, "end_aa": "Phe", "evidence": [ { "id": "Q9BRN9", "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 46, "start_aa": "Thr", "end_pos": 46, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr46", "evidence": [ { "id": "Q9BRN9", "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TFTVVPR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 48, "start_aa": "Thr", "end_pos": 54, "end_aa": "Arg", "evidence": [ { "id": "Q9BRN9", "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AAESTEIPPYVMK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 55, "start_aa": "Ala", "end_pos": 67, "end_aa": "Lys", "evidence": [ { "id": "Q9BRN9", "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": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "1814", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1814" }, { "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": "", "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [ { "start_pos": 28, "end_pos": 28, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q9BRN9", "url": "http://phospho.elm.eu.org/byAccession/Q9BRN9.html" }, { "database": "iPTMnet", "id": "Q9BRN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BRN9" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Ser28" }, { "start_pos": 58, "end_pos": 58, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q9BRN9", "url": "http://phospho.elm.eu.org/byAccession/Q9BRN9.html" }, { "database": "iPTMnet", "id": "Q9BRN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BRN9" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Ser58" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "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": "Q9BRN9", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Beta-amyloid peptide-induced apoptosis regulated by a novel protein containing a G protein activation module.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Kajkowski EM, Lo CF, Ning X, Walker S, Sofia HJ, Wang W, Edris W, Chanda P, Wagner E, Vile S, Ryan K, McHendry-Rinde B, Smith SC, Wood A, Rhodes KJ, Kennedy JD, Bard J, Jacobsen JS, Ozenberger BA", "evidence": [ { "database": "UniProtKB", "id": "Q9BRN9", "url": "https://www.uniprot.org/uniprot/Q9BRN9" } ], "reference": [ { "type": "PubMed", "id": "11278849", "url": "https://glygen.org/publication/PubMed/11278849" } ] }, { "title": "Cis- and trans-acting gene regulation is associated with osteoarthritis.", "journal": "American journal of human genetics", "date": "2006", "authors": "Mahr S, Burmester GR, Hilke D, Gobel U, Grutzkau A, Haupl T, Hauschild M, Koczan D, Krenn V, Neidel J, Perka C, Radbruch A, Thiesen HJ, Muller B", "evidence": [ { "database": "RefSeq", "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417" }, { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_001294955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" } ], "reference": [ { "type": "PubMed", "id": "16642435", "url": "https://glygen.org/publication/PubMed/16642435" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "Q9BRN9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BRN9" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "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": "Q9BRN9", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.", "journal": "PLoS genetics", "date": "2016", "authors": "Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, DeStefano AL, Brody JA, Smith AV, Amin N, Sims R, Ibrahim-Verbaas CA, Choi SH, Satizabal CL, Lopez OL, Beiser A, Ikram MA, Garcia ME, Hayward C, Varga TV, Ripatti S, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Porteous DJ, Salomaa V, Eiriksdottir G, Rice KM, Bellen HJ, Levy D, Uitterlinden AG, Emilsson V, Rotter JI, Aspelund T, O'Donnell CJ, Fitzpatrick AL, Launer LJ, Hofman A, Wang LS, Williams J, Schellenberg GD, Boerwinkle E, Psaty BM, Seshadri S, Shulman JM, Gudnason V, van Duijn CM", "evidence": [ { "database": "RefSeq", "id": "NP_001294955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294955" }, { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417" } ], "reference": [ { "type": "PubMed", "id": "27764101", "url": "https://glygen.org/publication/PubMed/27764101" } ] }, { "title": "TM2D3 rs675436 or FGFR2 rs755793 polymorphisms and susceptibility to Epstein-Barr virus-associated tumors in Chinese Han population.", "journal": "Journal of medical virology", "date": "2018", "authors": "Zhang Q, Liu W, Yang Y, Zhao Z, Luo B", "evidence": [ { "database": "RefSeq", "id": "NP_001294889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294889" }, { "database": "RefSeq", "id": "NP_001294955", "url": 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