{ "uniprot_canonical_ac": "O43291-1", "uniprot_ac": "O43291", "uniprot_id": "SPIT2_HUMAN", "mass": { "chemical_mass": 28228.0, "monoisotopic_mass": 28228.0 }, "refseq": { "ac": "NP_001159575", "name": "kunitz-type protease inhibitor 2 isoform b precursor", "summary": "This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" }, "gene_names": [ { "name": "SPINT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43291", "id": "O43291" }, { "name": "DIAR3; HAI-2; HAI2; Kop; PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575", "id": "NP_001159575" }, { "name": "HAI2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43291", "id": "O43291" }, { "name": "KOP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43291", "id": "O43291" }, { "name": "SPINT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575", "id": "NP_001159575" } ], "protein_names": [ { "name": "Kunitz-type protease inhibitor 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43291" }, { "name": "HAI-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43291" }, { "name": "Hepatocyte growth factor activator inhibitor type 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43291" }, { "name": "Placental bikunin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43291" }, { "name": "kunitz-type protease inhibitor 2 isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575", "id": "NP_001159575" }, { "name": "serine protease inhibitor, Kunitz type, 2; hepatocyte growth factor activator inhibitor type 2; kunitz-type protease inhibitor 2; testicular tissue protein Li 183; hepatocyte growth factor activator inhibitor-2; HGF activator inhibitor 2; Kunitz domain containing protein overexpressed in pancreatic cancer", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575", "id": "NP_001159575" } ], "function": [ { "annotation": "Comprehensive Analysis of the Expression and Prognostic Value of SPINT1/2 in Breast Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" }, { "database": "PubMed", "id": "34381422", "url": "https://glygen.org/publication/PubMed/34381422" } ] }, { "annotation": "Elevated Circulating and Placental SPINT2 Is Associated with Placental Dysfunction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" }, { "database": "PubMed", "id": "34299087", "url": "https://glygen.org/publication/PubMed/34299087" } ] }, { "annotation": "Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277).", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291#function" }, { "database": "PubMed", "id": "9115294", "url": "https://glygen.org/publication/PubMed/9115294" }, { "database": "PubMed", "id": "20977675", "url": "https://glygen.org/publication/PubMed/20977675" }, { "database": "PubMed", "id": "9346890", "url": "https://glygen.org/publication/PubMed/9346890" }, { "database": "PubMed", "id": "28710277", "url": "https://glygen.org/publication/PubMed/28710277" } ] }, { "annotation": "Loss of USP28 and SPINT2 expression promotes cancer cell survival after whole genome doubling.", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" }, { "database": "PubMed", "id": "34962618", "url": "https://glygen.org/publication/PubMed/34962618" } ] }, { "annotation": "There is a distinct regulation of hepatocyte growth factor activator inhibitor type 2 gene expression in testis and that HAI-2 may play a role in the process of spermatogenesis", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" }, { "database": "PubMed", "id": "12553733", "url": "https://glygen.org/publication/PubMed/12553733" } ] }, { "annotation": "This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" } ] } ], "disease": [ { "disease_id": "DOID:0060781", "recommended_name": { "id": "DOID:0060781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060781", "name": "congenital secretory sodium diarrhea 3", "description": "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13." }, "synonyms": [ { "id": "DOID:0060781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060781", "name": "congenital secretory sodium diarrhea 3 syndromic", "description": "" }, { "id": "DOID:0060781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060781", "name": "congenital secretory sodium diarrhoea 3", "description": "" }, { "id": "DOID:0060781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060781", "name": "congenital secretory sodium diarrhoea 3 syndromic", "description": "" }, { "id": "DOID:0060781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060781", "name": "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies", "description": "" }, { "id": "DOID:0060781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060781", "name": "congenital secretory sodium diarrhea 3 with or without other congenital anomalies", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhea 3", "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "SPINT2 secretory diarrhea", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "SPINT2 secretory diarrhoea", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhea 3 syndromic", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhea 3 with or without other congenital anomalies", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhea type 3", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhoea 3 syndromic", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "congenital secretory sodium diarrhoea type 3", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "secretory diarrhea caused by mutation in SPINT2", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "secretory diarrhoea caused by mutation in SPINT2", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "DIAR3", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "diarrhea 3, secretory sodium, congenital, syndromic", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "diarrhoea 3, secretory sodium, congenital, syndromic", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "diarrhoea 3, secretory sodium, congenital, with or without other congenital anomalies", "description": "" }, { "id": "MONDO:0010036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010036", "name": "sodium diarrhea, congenital", "description": "" }, { "id": "MIM:270420", "resource": "MIM", "url": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239731992" }, { "id": "rs1239731992", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239731992" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 112, "end_pos": 112, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "19", "chr_pos": "38287933", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769628437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769628437" }, { "id": "rs769628437", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs769628437" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 112, "end_pos": 112, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "19", "chr_pos": "38287934", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43291", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43291" } ], "glycoeffect": [], "start_pos": 125, "end_pos": 125, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "38289173", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D125", "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": 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43291", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43291" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43291", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43291" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43291", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43291" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "common_name": "Human" } ], "gene": [ { "name": "SPINT2", "url": "https://www.uniprot.org/uniprot/O43291", "locus": { "chromosome": "19", "start_pos": 38292615, "end_pos": 38244035, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000167642", "url": "https://www.ensembl.org/id/ENSG00000167642" } ] } } ], "crossref": [ { "id": "ENSG00000167642", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167642", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43291", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43291", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd22621", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22621", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22622", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22622", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SPINT2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPINT2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10653", "url": "https://www.ncbi.nlm.nih.gov/gene/10653", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11247", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11247", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43291", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43291*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002223", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002223", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020901", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020901", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036880", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036880", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10653", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10653", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "270420", "url": "http://www.omim.org/entry/270420", "database": "MIM", "categories": [ "Other" ] }, { "id": "605124", "url": "http://www.omim.org/entry/605124", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43291", "url": "https://www.nextprot.org/entry/NX_O43291", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43291", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43291", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KEECMHR", "url": "https://omabrowser.org/oma/group/KEECMHR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3558236at2759", "url": "http://www.orthodb.org/?query=3558236at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47247", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47247", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47247:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47247:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4U32", "url": "https://www.rcsb.org/structure/4U32", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00014", "url": "http://pfam.xfam.org/family/PF00014", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43291", "url": "https://pharos.nih.gov/targets/O43291", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050740", "url": "https://proconsortium.org/app/entry/PR:000050740", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O43291", "url": "http://purl.obolibrary.org/obo/PR_O43291", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43291", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "K7EJS4", "url": "https://www.uniprot.org/uniprot/K7EJS4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJS4-1", "url": "https://www.uniprot.org/uniprot/K7EJS4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKC8", "url": "https://www.uniprot.org/uniprot/K7EKC8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKC8-1", "url": "https://www.uniprot.org/uniprot/K7EKC8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKQ0", "url": "https://www.uniprot.org/uniprot/K7EKQ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKQ0-1", "url": "https://www.uniprot.org/uniprot/K7EKQ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EM91", "url": "https://www.uniprot.org/uniprot/K7EM91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EM91-1", "url": "https://www.uniprot.org/uniprot/K7EM91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES27", "url": "https://www.uniprot.org/uniprot/K7ES27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES27-1", "url": "https://www.uniprot.org/uniprot/K7ES27-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESI5", "url": "https://www.uniprot.org/uniprot/K7ESI5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESI5-1", "url": "https://www.uniprot.org/uniprot/K7ESI5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43291-1", "url": "https://www.uniprot.org/uniprot/O43291-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43291-2", "url": "https://www.uniprot.org/uniprot/O43291-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL", "length": 252, "header": "sp|O43291-1|SPIT2_HUMAN Isoform 1 of Kunitz-type protease inhibitor 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=2 CANONICAL=O43291-1" }, "isoforms": [ { "isoform_ac": "K7EJS4-1", "url": "", "sequence": { "sequence": "MPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATS", "length": 52, "header": "tr|K7EJS4-1|K7EJS4_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=1 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38287904, "end_pos": 38283671, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590510.5", "url": "https://www.ensembl.org/id/ENST00000590510.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465301.1", "url": "https://www.ensembl.org/id/ENSP00000465301.1" } ] } }, { "isoform_ac": "K7EKC8-1", "url": "", "sequence": { "sequence": "MPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPS", "length": 62, "header": "tr|K7EKC8-1|K7EKC8_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=1 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38287934, "end_pos": 38283671, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592007.1", "url": "https://www.ensembl.org/id/ENST00000592007.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465561.1", "url": "https://www.ensembl.org/id/ENSP00000465561.1" } ] } }, { "isoform_ac": "K7EKQ0-1", "url": "", "sequence": { "sequence": "MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPL", "length": 174, "header": "tr|K7EKQ0-1|K7EKQ0_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=8 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38290565, "end_pos": 38264893, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587516.5", "url": "https://www.ensembl.org/id/ENST00000587516.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465721.1", "url": "https://www.ensembl.org/id/ENSP00000465721.1" } ] } }, { "isoform_ac": "K7EM91-1", "url": "", "sequence": { "sequence": "MPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL", "length": 202, "header": "tr|K7EM91-1|K7EM91_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=1 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38292003, "end_pos": 38283671, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587090.5", "url": "https://www.ensembl.org/id/ENST00000587090.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466407.1", "url": "https://www.ensembl.org/id/ENSP00000466407.1" } ] } }, { "isoform_ac": "K7ES27-1", "url": "", "sequence": { "sequence": "XRGTPAITSSMEAAGAIRTATALRRPACSAASAVCSLPGQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL", "length": 106, "header": "tr|K7ES27-1|SPIT2_HUMAN Computationally mapped isoform of Kunitz-type protease inhibitor 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=1 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38292005, "end_pos": 38290187, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587334.1", "url": "https://www.ensembl.org/id/ENST00000587334.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468519.1", "url": "https://www.ensembl.org/id/ENSP00000468519.1" } ] } }, { "isoform_ac": "K7ESI5-1", "url": "", "sequence": { "sequence": "XPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKGKWPLTLLLPSACLLPSLTELSPAQLWFTLSFTVNIILAESHVSA", "length": 130, "header": "tr|K7ESI5-1|K7ESI5_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=1 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38290710, "end_pos": 38289138, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590738.1", "url": "https://www.ensembl.org/id/ENST00000590738.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468728.1", "url": "https://www.ensembl.org/id/ENSP00000468728.1" } ] } }, { "isoform_ac": "O43291-1", "url": "", "sequence": { "sequence": "MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL", "length": 252, "header": "sp|O43291-1|SPIT2_HUMAN Isoform 1 of Kunitz-type protease inhibitor 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=2 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38292003, "end_pos": 38264893, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000301244.12", "url": "https://www.ensembl.org/id/ENST00000301244.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000301244.5", "url": "https://www.ensembl.org/id/ENSP00000301244.5" } ] } }, { "isoform_ac": "O43291-2", "url": "", "sequence": { "sequence": "MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL", "length": 195, "header": "sp|O43291-2|SPIT2_HUMAN Isoform 2 of Kunitz-type protease inhibitor 2 OS=Homo sapiens OX=9606 GN=SPINT2 PE=1 SV=2 CANONICAL=O43291-1" }, "locus": { "chromosome": "19", "start_pos": 38292003, "end_pos": 38264893, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454580.7", "url": "https://www.ensembl.org/id/ENST00000454580.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000389788.2", "url": "https://www.ensembl.org/id/ENSP00000389788.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TS", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 101, "start_aa": "Thr", "end_pos": 102, "end_aa": "Ser", "evidence": [ { "id": "O43291", "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": "NAADSSVPSAPR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 104, "start_aa": "Asn", "end_pos": 115, "end_aa": "Arg", "evidence": [ { "id": "O43291", "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": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 108, "start_aa": "Ser", "end_pos": 108, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser108", "evidence": [ { "id": "O43291", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": 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beta-chain in complex with the Sema domain of the Met receptor.", "journal": "The EMBO journal", "date": "2004", "authors": "Stamos J, Lazarus RA, Yao X, Kirchhofer D, Wiesmann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15167892", "url": "https://glygen.org/publication/PubMed/15167892" } ] }, { "title": "Structural and functional basis of the serine protease-like hepatocyte growth factor beta-chain in Met binding and signaling.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kirchhofer D, Yao X, Peek M, Eigenbrot C, Lipari MT, Billeci KL, Maun HR, Moran P, Santell L, Wiesmann C, Lazarus RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15218027", "url": 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based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "The C terminus of RON tyrosine kinase plays an autoinhibitory role.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Yokoyama N, Ischenko I, Hayman MJ, Miller WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "15632155", "url": "https://glygen.org/publication/PubMed/15632155" } ] }, { "title": "Conformational lability in serine protease active sites: structures of hepatocyte growth factor activator (HGFA) alone and with the inhibitory domain from HGFA inhibitor-1B.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Shia S, Stamos J, Kirchhofer D, Fan B, Wu J, Corpuz RT, Santell L, Lazarus RA, Eigenbrot C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15713485", "url": "https://glygen.org/publication/PubMed/15713485" } ] }, { "title": "Hepsin activates pro-hepatocyte growth factor and is inhibited by hepatocyte growth factor activator inhibitor-1B (HAI-1B) and HAI-2.", "journal": "FEBS letters", "date": "2005", "authors": "Kirchhofer D, Peek M, Lipari MT, Billeci K, Fan B, Moran P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15792801", "url": "https://glygen.org/publication/PubMed/15792801" } ] }, { "title": "Structural basis of hepatocyte growth 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"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": "Functional consequences of the macrophage stimulating protein 689C inflammatory bowel disease risk allele.", "journal": "PloS one", "date": "2013", "authors": "Kauder SE, Santell L, Mai E, Wright LY, Luis E, N'Diaye EN, Lutman J, Ratti N, Sa SM, Maun HR, Stefanich E, Gonzalez LC, Graham RR, Diehl L, Faubion WA Jr, Keir ME, Young J, Chaudhuri A, Lazarus RA, Egen JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "24409221", "url": "https://glygen.org/publication/PubMed/24409221" } ] }, { "title": "Structural basis for the binding specificity of human Recepteur 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43291", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43291" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Elevated Circulating and Placental SPINT2 Is Associated with Placental Dysfunction.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Murphy CN, Walker SP, MacDonald TM, Keenan E, Hannan NJ, Wlodek ME, Myers J, Briffa JF, Romano T, Roddy Mitchell A, Whigham CA, Cannon P, Nguyen TV, Kandel M, Pritchard N, Tong S, Kaitu'u-Lino TJ", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" } ], "reference": [ { "type": "PubMed", "id": "34299087", "url": "https://glygen.org/publication/PubMed/34299087" } ] }, { "title": "Comprehensive Analysis of the Expression and Prognostic Value of SPINT1/2 in Breast Carcinoma.", "journal": "Frontiers in endocrinology", "date": "2021", "authors": "Wu Q, Yin G, Luo J, Zhang Y, Ai T, Tian J, Jin Y, Lei J, Liu S", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" } ], "reference": [ { "type": "PubMed", "id": "34381422", "url": "https://glygen.org/publication/PubMed/34381422" } ] }, { "title": "Posttranslational modifications of serine protease TMPRSS13 regulate zymogen activation, proteolytic activity, and cell surface localization.", "journal": "J. Biol. Chem.", "date": "2021", "authors": "Martin CE, Murray AS, Sala-Hamrick KE, Mackinder JR, Harrison EC, Lundgren JG, Varela FA, List K", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "reference": [ { "type": "PubMed", "id": "34562451", "url": "https://glygen.org/publication/PubMed/34562451" } ] }, { "title": "Loss of USP28 and SPINT2 expression promotes cancer cell survival after whole genome doubling.", "journal": "Cellular oncology (Dordrecht)", "date": "2022", "authors": "Bernhard SV, Seget-Trzensiok K, Kuffer C, Krastev DB, Stautmeister LM, Theis M, Keuper K, Boekenkamp JE, Kschischo M, Buchholz F, Storchova Z", "evidence": [ { "database": "RefSeq", "id": "NP_001159575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159575" } ], "reference": [ { "type": "PubMed", "id": "34962618", "url": "https://glygen.org/publication/PubMed/34962618" } ] }, { "title": "N-glycosylation on Asn-57 is required for the correct HAI-2 protein folding and protease inhibitory activity.", "journal": "Glycobiology", "date": "2023-01-13", "authors": "Huang Nanxi, Wang Qiaochu, Chen Chao-Yang, Hu Je-Ming, Wang Jehng-Kang, Chang Ping-Ying, Johnson Michael D, Lin Chen-Yong", "evidence": [ { "database": "Automatic Literature Mining", "id": "36637420", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/36637420" } ], "reference": [ { "type": "PubMed", "id": "36637420", "url": "https://glygen.org/publication/PubMed/36637420" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43291", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43291" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "A multifunctional docking site mediates signaling and transformation by the hepatocyte growth factor/scatter factor receptor family.", "journal": "Cell", "date": "1994", "authors": "Ponzetto C, Bardelli A, Zhen Z, Maina F, dalla Zonca P, Giordano S, Graziani A, Panayotou G, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "7513258", "url": "https://glygen.org/publication/PubMed/7513258" } ] }, { "title": "Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud.", "journal": "Nature", "date": "1995", "authors": "Bladt F, Riethmacher D, Isenmann S, Aguzzi A, Birchmeier C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "7651534", "url": "https://glygen.org/publication/PubMed/7651534" } ] }, { "title": "Mutation of juxtamembrane tyrosine residue 1001 suppresses loss-of-function mutations of the met receptor in epithelial cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Weidner KM, Sachs M, Riethmacher D, Birchmeier W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "7708691", "url": "https://glygen.org/publication/PubMed/7708691" } ] }, { "title": "Scatter factor/hepatocyte growth factor is essential for liver development.", "journal": "Nature", "date": "1995", "authors": "Schmidt C, Bladt F, Goedecke S, Brinkmann V, Zschiesche W, Sharpe M, Gherardi E, Birchmeier C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "7854452", "url": "https://glygen.org/publication/PubMed/7854452" } ] }, { "title": "Placental defect and embryonic lethality in mice lacking hepatocyte growth factor/scatter factor.", "journal": "Nature", "date": "1995", "authors": "Uehara Y, Minowa O, Mori C, Shiota K, Kuno J, Noda T, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "7854453", "url": "https://glygen.org/publication/PubMed/7854453" } ] }, { "title": "Invasiveness and metastasis of NIH 3T3 cells induced by Met-hepatocyte growth factor/scatter factor autocrine stimulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Rong S, Segal S, Anver M, Resau JH, Vande Woude GF", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "8197126", "url": "https://glygen.org/publication/PubMed/8197126" } ] }, { "title": "Autophosphorylation modulates the kinase activity and oncogenic potential of the Met receptor tyrosine kinase.", "journal": "Oncogene", "date": "1994", "authors": "Rodrigues GA, Park M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "8208547", "url": "https://glygen.org/publication/PubMed/8208547" } ] }, { "title": "Tyrosines1234-1235 are critical for activation of the tyrosine kinase encoded by the MET proto-oncogene (HGF receptor).", "journal": "Oncogene", "date": "1994", "authors": "Longati P, Bardelli A, Ponzetto C, Naldini L, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "8302603", "url": "https://glygen.org/publication/PubMed/8302603" } ] }, { "title": "Hepsin, a putative cell-surface serine protease, is required for mammalian cell growth.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Torres-Rosado A, O'Shea KS, Tsuji A, Chou SH, Kurachi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "8346233", "url": "https://glygen.org/publication/PubMed/8346233" } ] }, { "title": "Hepatocyte growth factor activator inhibitor, a novel Kunitz-type serine protease inhibitor.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shimomura T, Denda K, Kitamura A, Kawaguchi T, Kito M, Kondo J, Kagaya S, Qin L, Takata H, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "9045658", "url": "https://glygen.org/publication/PubMed/9045658" } ] }, { "title": "Identification and cloning of human placental bikunin, a novel serine protease inhibitor containing two Kunitz domains.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Marlor CW, Delaria KA, Davis G, Muller DK, Greve JM, Tamburini PP", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "reference": [ { "type": "PubMed", "id": "9115294", "url": "https://glygen.org/publication/PubMed/9115294" } ] }, { "title": "Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.", "journal": "Nature genetics", "date": "1997", "authors": "Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, Lerman MI, Linehan WM, Zbar B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "9140397", "url": "https://glygen.org/publication/PubMed/9140397" } ] }, { "title": "Macrophage stimulating protein (MSP) binds to its receptor via the MSP beta chain.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wang MH, Julian FM, Breathnach R, Godowski PJ, Takehara T, Yoshikawa W, Hagiya M, Leonard EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "9202013", "url": "https://glygen.org/publication/PubMed/9202013" } ] }, { "title": "Purification and cloning of hepatocyte growth factor activator inhibitor type 2, a Kunitz-type serine protease inhibitor.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kawaguchi T, Qin L, Shimomura T, Kondo J, Matsumoto K, Denda K, Kitamura N", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" }, { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "9346890", "url": "https://glygen.org/publication/PubMed/9346890" } ] }, { "title": "Cloning of a new Kunitz-type protease inhibitor with a putative transmembrane domain overexpressed in pancreatic cancer.", "journal": "Biochim. Biophys. Acta", "date": "1998", "authors": "Muller-Pillasch F, Wallrapp C, Bartels K, Varga G, Friess H, Buchler M, Adler G, Gress TM", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "reference": [ { "type": "PubMed", "id": "9434156", "url": "https://glygen.org/publication/PubMed/9434156" } ] }, { "title": "Mode of receptor binding and activation by plasminogen-related growth factors.", "journal": "FEBS letters", "date": "1998", "authors": "Miller M, Leonard EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "9657372", "url": "https://glygen.org/publication/PubMed/9657372" } ] } ], "pathway": [ { "id": "hsa:10653", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10653", "resource": "KEGG Pathway" }, { "id": "R-HSA-6806942", "name": "MET Receptor Activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942", "resource": "Reactome", "description": "MET Receptor Activation" }, { "id": "R-HSA-8852405", "name": "Signaling by MST1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405", "resource": "Reactome", "description": "Signaling by MST1" } ], "orthologs": [ { "uniprot_canonical_ac": "F6QKA3-1", "protein_name": "Serine peptidase inhibitor, Kunitz type, 2", "gene_name": "Spint2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAQLCEPRRGRALLALLASLLLSGAQAASRDLDVHESCGVSKVVGKCRASIPRWWYNVTDGTCQPFVYGGCEGNGNNYPSKEECLDKCAGITENTIDGLARSSDGASALSVPRKQDSADLAGEIFNYEEYCVPKAVTGPCRAAFPRWYYDVEKNSCSSFIYGGCRGNKNSYLSQEACMQHCSGKQMYPFLTPGTKAVILVGLFIMVLILLLGSSMVFLIRMVRRKQERALRTVWSTADDKEQLVKNTCVL", "length": 250 }, "evidence": [ { "id": "45929735", "url": "http://www.informatics.jax.org/homology/45929735", "database": "MGI" }, { "id": "O43291", "url": "https://omabrowser.org/oma/group/O43291/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9WU03-1", "protein_name": "Kunitz-type protease inhibitor 2", "gene_name": "Spint2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAQLCELRRGRALLALVASLLLSGAQVASRELDVHESCGVSKVVGKCRASIPRWWYNITDGSCQPFVYGGCEGNGNNYQSKEECLDKCAGVTENTTDDMARNRNGADSSVLSVPRKQSAEDLSAEIFNYEEYCVPKAVTGPCRAAFPRWYYDTEKNSCISFIYGGCRGNKNSYLSQEACMQHCSGKQMHPFLTPGLKAVILVGLFLMVLILLLGTSMVCLIRVVRRKQERALRTVWSTADDKEQLVKNTCVL", "length": 252 }, "evidence": [ { "id": "45929735", "url": "http://www.informatics.jax.org/homology/45929735", "database": "MGI" }, { "id": "O43291", "url": "https://omabrowser.org/oma/group/O43291/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "epithelial cell morphogenesis involved in placental branching", "id": "GO:0060672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060672", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "negative regulation of cell motility", "id": "GO:2000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000146", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "negative regulation of neural precursor cell proliferation", "id": "GO:2000178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000178", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43291", "url": "https://www.uniprot.org/uniprot/O43291" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "Kunitz-type protease inhibitor 2 O-glycosylated 1 (human)", "definition": "A Kunitz-type protease inhibitor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-134 of the amino acid sequence represented by UniProtKB:O43291-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43291-1, Thr-134, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050740", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050740" } ] } ], "site_annotation": [ { "start_pos": 57, "end_pos": 59, "annotation": "n_glycosylation_sequon" }, { "start_pos": 94, "end_pos": 96, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 57, 94 ], "o_linked_sites": [ 88, 101, 104, 108, 109, 112, 134 ], "snv_sites": [ 57, 94, 96, 106, 108, 112, 125, 134 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 57, "end_pos": 59 }, { "start_pos": 94, "end_pos": 96 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 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_with_glycan", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 52 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }