{ "uniprot_canonical_ac": "A0PJZ3-1", "uniprot_ac": "A0PJZ3", "uniprot_id": "GXLT2_HUMAN", "mass": { "chemical_mass": 51056.0, "monoisotopic_mass": 51056.0 }, "refseq": { "ac": "NP_001073862", "name": "glucoside xylosyltransferase 2 precursor", "summary": "The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" }, "gene_names": [ { "name": "GXYLT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0PJZ3", "id": "A0PJZ3" }, { "name": "GLT8D4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862", "id": "NP_001073862" }, { "name": "GLT8D4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0PJZ3", "id": "A0PJZ3" }, { "name": "GXYLT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862", "id": "NP_001073862" } ], "protein_names": [ { "name": "Glucoside xylosyltransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0PJZ3" }, { "name": "2.4.2.42", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0PJZ3" }, { "name": "Glycosyltransferase 8 domain-containing protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0PJZ3" }, { "name": "glucoside xylosyltransferase 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862", "id": "NP_001073862" }, { "name": "glycosyltransferase 8 domain containing 4; glycosyltransferase 8 domain-containing protein 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862", "id": "NP_001073862" } ], "function": [ { "annotation": "Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" }, { "database": "PubMed", "id": "34506251", "url": "https://glygen.org/publication/PubMed/34506251" } ] }, { "annotation": "Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.", "evidence": [ { "database": "UniProtKB", "id": "A0PJZ3", "url": "https://www.uniprot.org/uniprot/A0PJZ3#function" }, { "database": "PubMed", "id": "19940119", "url": "https://glygen.org/publication/PubMed/19940119" } ] }, { "annotation": "MicroRNA-204-5p Hampers the Malignant Progression of Clear Cell Renal Cell Carcinoma through GXYLT2 Downregulation.", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" }, { "database": "PubMed", "id": "36063796", "url": "https://glygen.org/publication/PubMed/36063796" } ] }, { "annotation": "Our findings indicated that GXYLT2 plays an important role in cell activities via regulation of the Notch signaling", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" }, { "database": "PubMed", "id": "30716301", "url": "https://glygen.org/publication/PubMed/30716301" } ] }, { "annotation": "Pan-cancer analysis of the prognostic significance and oncogenic role of GXYLT2.", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" }, { "database": "PubMed", "id": "37986328", "url": "https://glygen.org/publication/PubMed/37986328" } ] }, { "annotation": "The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" } ] }, { "annotation": "We have identified two enzymes of the human glycosyltransferase 8 family, now named GXYLT1 and GXYLT2 (glucoside xylosyltransferase), as UDP-d-xylose:beta-d-glucoside alpha1,3-d-xylosyltransferases adding the first xylose.", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" }, { "database": "PubMed", "id": "19940119", "url": "https://glygen.org/publication/PubMed/19940119" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1575811444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575811444" }, { "id": "rs1575811444", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575811444" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 235, "end_pos": 235, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSP).", "chr_id": "3", "chr_pos": "72955200", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772953155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772953155" }, { "id": "rs772953155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772953155" }, { "id": "rs772953155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772953155" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 261, "end_pos": 261, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YGS->NGS).", "chr_id": "3", "chr_pos": "72955278", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y261", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "60.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "71.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.18", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "66.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "72.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172986", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172986" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A0PJZ3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJZ3" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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, 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A0PJZ3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJZ3" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "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": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J3Q6-1", "url": "https://www.uniprot.org/uniprot/C9J3Q6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JND4", "url": "https://www.uniprot.org/uniprot/C9JND4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JND4-1", "url": "https://www.uniprot.org/uniprot/C9JND4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKLRSKAAALLLLALAALLLALLSLRAGRAEPPALPARPASAPQRHPAPVPARWPGPGALPGASPGVRRRRPPRPRPRAGRRGAARLEKLARRPGEPRSFQAVLPPELWIHLAVVACGNRLEETLVMLKSAVLFSHRKIQFHIFTEDSLKPEFDKQLRQWPDSYTKKFEHRIYPITFSVGNPQEWKKLFKPCAAQRLFLPVILKDVDSLLYVDTDVLFLRPVDDIWKLLRLFNSTQLAAMAPEHEIPKIGWYSRFARHPFYGSAGVNSGVMLMNLTRIRSTQFKNSMIPTGLAWEDMLYPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSNCREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIEKTMKRAYEKHVIIHVGPNQMH", "length": 443, "header": "sp|A0PJZ3-1|GXLT2_HUMAN Isoform 1 of Glucoside xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=GXYLT2 PE=2 SV=2 CANONICAL=A0PJZ3-1" }, "isoforms": [ { "isoform_ac": "A0PJZ3-1", "url": "", "sequence": { "sequence": "MKLRSKAAALLLLALAALLLALLSLRAGRAEPPALPARPASAPQRHPAPVPARWPGPGALPGASPGVRRRRPPRPRPRAGRRGAARLEKLARRPGEPRSFQAVLPPELWIHLAVVACGNRLEETLVMLKSAVLFSHRKIQFHIFTEDSLKPEFDKQLRQWPDSYTKKFEHRIYPITFSVGNPQEWKKLFKPCAAQRLFLPVILKDVDSLLYVDTDVLFLRPVDDIWKLLRLFNSTQLAAMAPEHEIPKIGWYSRFARHPFYGSAGVNSGVMLMNLTRIRSTQFKNSMIPTGLAWEDMLYPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSNCREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIEKTMKRAYEKHVIIHVGPNQMH", "length": 443, "header": "sp|A0PJZ3-1|GXLT2_HUMAN Isoform 1 of Glucoside xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=GXYLT2 PE=2 SV=2 CANONICAL=A0PJZ3-1" }, "locus": { "chromosome": "3", "start_pos": 72975156, "end_pos": 72888234, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389617.9", "url": "https://www.ensembl.org/id/ENST00000389617.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000374268.4", "url": "https://www.ensembl.org/id/ENSP00000374268.4" } ] } }, { "isoform_ac": "C9J3Q6-1", "url": "", "sequence": { "sequence": "MLKSAVLFSHRKIQFHIFTEDSLKPEFDKQLRQWPDSYTKKFEHRIYPITFSVGNPQEWKKLFKPCAAQRLFLPVILKDVDSLLYVDTDVLFLRPVDDIWKL", "length": 102, "header": "tr|C9J3Q6-1|C9J3Q6_HUMAN Computationally mapped isoform of Glucoside xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=GXYLT2 PE=1 SV=1 CANONICAL=A0PJZ3-1" }, "locus": { "chromosome": "3", "start_pos": 72955181, "end_pos": 72908470, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498315.1", "url": "https://www.ensembl.org/id/ENST00000498315.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417239.1", "url": "https://www.ensembl.org/id/ENSP00000417239.1" } ] } }, { "isoform_ac": "C9JND4-1", "url": "", "sequence": { "sequence": "MAPEHEIPKIGWYSRFARHPFYGSAGVNSGVMLMNLTRIRSTQFKNSMIPTGLAWEDMLYPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSNCREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDILRRGGKRKFVLSWISFFVM", "length": 164, "header": "tr|C9JND4-1|GXLT2_HUMAN Computationally mapped isoform of Glucoside xylosyltransferase 2 OS=Homo sapiens OX=9606 GN=GXYLT2 PE=2 SV=1 CANONICAL=A0PJZ3-1" }, "locus": { "chromosome": "3", "start_pos": 72998136, "end_pos": 72955215, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491839.1", "url": "https://www.ensembl.org/id/ENST00000491839.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420426.1", "url": "https://www.ensembl.org/id/ENSP00000420426.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 233, "start_aa": "Asn", "end_pos": 233, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn233", "evidence": [ { "id": "A0PJZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PJZ3#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 274, "start_aa": "Asn", "end_pos": 274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn274", "evidence": [ { "id": "A0PJZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PJZ3#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Sethi MK, Buettner FF, Krylov VB, Takeuchi H, Nifantiev NE, Haltiwanger RS, Gerardy-Schahn R, Bakker H", "evidence": [ { "database": "UniProtKB", "id": "A0PJZ3", "url": "https://www.uniprot.org/uniprot/A0PJZ3" }, { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" } ], "reference": [ { "type": "PubMed", "id": "19940119", "url": "https://glygen.org/publication/PubMed/19940119" } ] }, { "title": "GXYLT2 accelerates cell growth and migration by regulating the Notch pathway in human cancer cells.", "journal": "Experimental cell research", "date": "2019", "authors": "Cui Q, Xing J, Gu Y, Nan X, Ma W, Chen Y, Zhao H", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" } ], "reference": [ { "type": "PubMed", "id": "30716301", "url": "https://glygen.org/publication/PubMed/30716301" } ] }, { "title": "Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis.", "journal": "Bioengineered", "date": "2021", "authors": "Zhao Y, Hu S, Zhang J, Cai Z, Wang S, Liu M, Dai J, Gao Y", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" } ], "reference": [ { "type": "PubMed", "id": "34506251", "url": "https://glygen.org/publication/PubMed/34506251" } ] }, { "title": "MicroRNA-204-5p Hampers the Malignant Progression of Clear Cell Renal Cell Carcinoma through GXYLT2 Downregulation.", "journal": "Kidney & blood pressure research", "date": "2022", "authors": "Wu Ying, Liao Qin", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" } ], "reference": [ { "type": "PubMed", "id": "36063796", "url": "https://glygen.org/publication/PubMed/36063796" } ] }, { "title": "Pan-cancer analysis of the prognostic significance and oncogenic role of GXYLT2.", "journal": "Medicine", "date": "2023-11-17", "authors": "Song Yi-Bei, Bao Wen-Guang, Liu Deng-He, Wei Li-Qiang, Yang Shu-Ting, Miao Xue-Jing, Lin Chun-Yu, Li Hong-Jun, Lan Dong, He Hui-Min", "evidence": [ { "database": "RefSeq", "id": "NP_001073862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073862" } ], "reference": [ { "type": "PubMed", "id": "37986328", "url": "https://glygen.org/publication/PubMed/37986328" } ] } ], "pathway": [ { "id": "hsa:727936", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:727936", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A275-1", "protein_name": "UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase", "gene_name": "Gxylt2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKLRSKAAALLLLALAVLLLALLSLRARQDLEPPGFPARPEAAPQRRHAPVPTLPPEPRAFPGAAGPRFPRRRPPRLRPGASRPRAASRGKLARRSGEVRSLHSVPPELWIHLAVVACGNRLEETLVMLKSAVLFSHRKMRFHIFTEDALKPEFDKQLRQWPDSYTKKFEHKLYPITFSVGNPQEWKKLFKPCAAQRLFLPVILKDVDSLLYVDTDVLFLRPVDDIWKLLRQFNSTQLAAMAPEHEIPKIGWYSRFARHPFYGSAGVNSGVMLMNLTRIRSTQFKNSLIPTGLAWEEMLLPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSNCKEAEREGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFRDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIEKTMRRAYEKHIVIHVGPNPMS", "length": 444 }, "evidence": [ { "id": "45929611", "url": "http://www.informatics.jax.org/homology/45929611", "database": "MGI" }, { "id": "A0PJZ3", "url": "https://omabrowser.org/oma/group/A0PJZ3/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q810K9-1", "protein_name": "Glucoside xylosyltransferase 2", "gene_name": "Gxylt2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKLRSKAAALLLLALAVLLLALLSLRARRDPEPPGFPARPEAAPQRRHAPVPTLPPEPRAFPGAAGRRSPRRQPPRLRPRAGRPRAASREKLARRPGETRSLHSVPPELWIHLAVVACGNRLEETLVMLKSAVLFSHRKMRFHIFTEDALKPEFDKQLRQWPDSYTKKFEHRLYPITFSVGNPQEWKKLFKPCAAQRLFLPAILKDVDSLLYVDTDVLFLRPVDDIWKLLRQFNSTQLAAMAPEHEIPKIGWYSRFARHPFYGSAGVNSGVMLMNLTRIRNTQFKNSLIPAGLAWEEMLLPLYQKYKSAITWGDQDLLNIIFYYNPECLYVFPCQWNYRPDHCMYGSNCKEAEREGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIEKTMRRAYEKHVIIHMGPNPMS", "length": 444 }, "evidence": [ { "id": "45929611", "url": "http://www.informatics.jax.org/homology/45929611", "database": "MGI" }, { "id": "A0PJZ3", "url": "https://omabrowser.org/oma/group/A0PJZ3/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0PJZ3", "url": "https://www.uniprot.org/uniprot/A0PJZ3" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "O-glycan processing", "id": "GO:0016266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016266", "evidence": [ { "database": "UniProtKB", "id": "A0PJZ3", "url": "https://www.uniprot.org/uniprot/A0PJZ3" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "UDP-xylosyltransferase activity", "id": "GO:0035252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035252", "evidence": [ { "database": "UniProtKB", "id": "A0PJZ3", "url": "https://www.uniprot.org/uniprot/A0PJZ3" } ], "pmid": "" }, { "name": "UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity", "id": "GO:0140563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140563", "evidence": [ { "database": "UniProtKB", "id": "A0PJZ3", "url": "https://www.uniprot.org/uniprot/A0PJZ3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 233, "end_pos": 235, "annotation": "n_glycosylation_sequon" }, { "start_pos": 274, "end_pos": 276, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "56064", "name": "", "equation": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6GX83-1", "D4A275-1", "A0PJZ3-1", "Q4G148-1", "Q810K9-1", "Q3UHH8-1", "Q9VBY3-1" ], "evidence": [ { "id": "56064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/56064" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0PJZ3", "gene_name": "GXYLT2", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "A0PJZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PJZ3" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "A0PJZ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PJZ3" } ] } ] }, { "uniprot_ac": "D4A275", "gene_name": "Gxylt2", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "D4A275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A275" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "D4A275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A275" } ] } ] }, { "uniprot_ac": "Q3UHH8", "gene_name": "Gxylt1", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "Q3UHH8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UHH8" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "Q3UHH8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UHH8" } ] } ] }, { "uniprot_ac": "Q4G148", "gene_name": "GXYLT1", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "Q4G148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G148" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "Q4G148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G148" } ] } ] }, { "uniprot_ac": "Q6GX83", "gene_name": "Gxylt1", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "Q6GX83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GX83" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "Q6GX83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GX83" } ] } ] }, { "uniprot_ac": "Q810K9", "gene_name": "Gxylt2", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "Q810K9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q810K9" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "Q810K9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q810K9" } ] } ] }, { "uniprot_ac": "Q9VBY3", "gene_name": "shams", "activity": [ { "ec_number": "2.4.2.42", "activity": "3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP.", "evidence": [ { "id": "Q9VBY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VBY3" } ] }, { "ec_number": "2.4.2.42", "activity": "", "evidence": [ { "id": "Q9VBY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VBY3" } ] } ] } ], "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": [ 233, 274 ], "o_linked_sites": [], "snv_sites": [ 235, 261 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 233, "end_pos": 235 }, { "start_pos": 274, "end_pos": 276 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 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_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }