{ "uniprot_canonical_ac": "A1X283-1", "uniprot_ac": "A1X283", "uniprot_id": "SPD2B_HUMAN", "mass": { "chemical_mass": 101579.0, "monoisotopic_mass": 101579.0 }, "refseq": { "ac": "NP_001017995", "name": "SH3 and PX domain-containing protein 2B isoform a", "summary": "This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, "gene_names": [ { "name": "SH3PXD2B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283" }, { "name": "FAD49; FTHS; HOFI; KIAA1295; TKS4; TSK4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995", "id": "NP_001017995" }, { "name": "FAD49", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283" }, { "name": "KIAA1295", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283" }, { "name": "SH3PXD2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995", "id": "NP_001017995" }, { "name": "TKS4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283" }, { "name": "hCG_40282", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1X283", "id": "A1X283" } ], "protein_names": [ { "name": "SH3 and PX domain-containing protein 2B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A1X283" }, { "name": "Adapter protein HOFI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1X283" }, { "name": "Factor for adipocyte differentiation 49", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1X283" }, { "name": "SH3 and PX domain-containing protein 2B isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995", "id": "NP_001017995" }, { "name": "Tyrosine kinase substrate with four SH3 domains", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1X283" }, { "name": "adapter protein HOFI; adaptor protein HOFI; tyrosine kinase substrate with four SH3 domains; factor for adipocyte differentiation 49", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995", "id": "NP_001017995" } ], "function": [ { "annotation": "Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, { "database": "PubMed", "id": "36674824", "url": "https://glygen.org/publication/PubMed/36674824" } ] }, { "annotation": "Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, { "database": "PubMed", "id": "31671862", "url": "https://glygen.org/publication/PubMed/31671862" } ] }, { "annotation": "Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283#function" }, { "database": "PubMed", "id": "19755710", "url": "https://glygen.org/publication/PubMed/19755710" }, { "database": "PubMed", "id": "20609497", "url": "https://glygen.org/publication/PubMed/20609497" }, { "database": "PubMed", "id": "12615925", "url": "https://glygen.org/publication/PubMed/12615925" } ] }, { "annotation": "Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, { "database": "PubMed", "id": "37211344", "url": "https://glygen.org/publication/PubMed/37211344" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, { "database": "PubMed", "id": "19228371", "url": "https://glygen.org/publication/PubMed/19228371" } ] }, { "annotation": "Studying the Association of TKS4 and CD2AP Scaffold Proteins and Their Implications in the Partial Epithelial-Mesenchymal Transition (EMT) Process. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, { "database": "PubMed", "id": "37894817", "url": "https://glygen.org/publication/PubMed/37894817" } ] }, { "annotation": "These findings establish a role for TKS4 in Frank-Ter Haar syndrome and embryonic development.", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" }, { "database": "PubMed", "id": "20137777", "url": "https://glygen.org/publication/PubMed/20137777" } ] }, { "annotation": "This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ] } ], "disease": [ { "disease_id": "DOID:0111789", "recommended_name": { "id": "DOID:0111789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111789", "name": "Frank-Ter Haar syndrome", "description": "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1." }, "synonyms": [ { "id": "DOID:0111789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111789", "name": "Borrone dermatocardioskeletal syndrome", "description": "" }, { "id": "DOID:0111789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111789", "name": "FTHS", "description": "" }, { "id": "DOID:0111789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111789", "name": "Ter Haar syndrome", "description": "" }, { "id": "DOID:0111789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111789", "name": "megalocornea, multiple skeletal anomalies, and developmental delay", "description": "" }, { "id": "DOID:0111789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111789", "name": "autosomal recessive Melnick-Needles syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Frank-Ter Haar syndrome", "description": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Borrone Dermatocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Borrone di Rocco Crovato syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Frank-Ter Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Ter Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Borrone dermatocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "FRANK-TER Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "FTHS", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Frank Ter Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Melnick-Needles syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Melnick-Needles syndrome, autosomal recessive, formerly", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "autosomal recessive Melnick-Needles syndrome (formerly)", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "megalocornea, multiple skeletal anomalies, and developmental delay", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Frank-Ter Haar syndrome", "description": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Borrone Dermatocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Borrone di Rocco Crovato syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Frank-Ter Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Ter Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Borrone dermatocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "FRANK-TER Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "FTHS", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Frank Ter Haar syndrome", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Melnick-Needles syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "Melnick-Needles syndrome, autosomal recessive, formerly", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "autosomal recessive Melnick-Needles syndrome (formerly)", "description": "" }, { "id": "MONDO:0009579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009579", "name": "megalocornea, multiple skeletal anomalies, and developmental delay", "description": "" }, { "id": "MIM:249420", "resource": "MIM", "url": "https://www.omim.org/entry/249420", "name": "Frank-Ter Haar syndrome", "description": "Frank-Ter Haar syndrome" } ], "evidence": [ { "id": "249420", "database": "MIM", "url": "https://www.omim.org/entry/249420" } ] } ], "snv": [ { "evidence": [ { "id": "A1X283", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1X283" } ], "glycoeffect": [], "start_pos": 698, "end_pos": 698, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "172339012", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R698", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease 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"url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", 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"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", 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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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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1X283" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP", "length": 911, "header": "sp|A1X283-1|SPD2B_HUMAN Isoform 1 of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=3 CANONICAL=A1X283-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GUF2-1", "url": "", "sequence": { "sequence": "XQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEVSWRYWSLPRPVGRRRTLGDLYAISWRQEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEDHKNVHLESPVEVPLRRIKMRTALGKHVAASMEM", "length": 444, "header": "tr|A0A1B0GUF2-1|A0A1B0GUF2_HUMAN Computationally mapped isoform of SH3 and PX domains 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=1 CANONICAL=A1X283-1" }, "locus": { "chromosome": "5", "start_pos": 172454308, "end_pos": 172325277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636523.1", "url": "https://www.ensembl.org/id/ENST00000636523.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490082.1", "url": "https://www.ensembl.org/id/ENSP00000490082.1" } ] } }, { "isoform_ac": "A1X283-1", "url": "", "sequence": { "sequence": "MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP", "length": 911, "header": "sp|A1X283-1|SPD2B_HUMAN Isoform 1 of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=3 CANONICAL=A1X283-1" }, "locus": { "chromosome": "5", "start_pos": 172454352, "end_pos": 172338372, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000311601.6", "url": "https://www.ensembl.org/id/ENST00000311601.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000309714.5", "url": "https://www.ensembl.org/id/ENSP00000309714.5" } ] } }, { "isoform_ac": "G3V144-1", "url": "", "sequence": { "sequence": "MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVVANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEDHKNVHLESPVEVPLRRIKMRTALGKHVAASMEM", "length": 430, "header": "tr|G3V144-1|SPD2B_HUMAN Computationally mapped isoform of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=1 CANONICAL=A1X283-1" }, "locus": { "chromosome": "5", "start_pos": 172454352, "end_pos": 172325279, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519643.5", "url": "https://www.ensembl.org/id/ENST00000519643.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430890.1", "url": "https://www.ensembl.org/id/ENSP00000430890.1" } ] } }, { "isoform_ac": "H0YAU1-1", "url": "", "sequence": { "sequence": "XPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEEQWALPTTSCLLIG", "length": 81, "header": "tr|H0YAU1-1|SPD2B_HUMAN Computationally mapped isoform of SH3 and PX domain-containing protein 2B OS=Homo sapiens OX=9606 GN=SH3PXD2B PE=1 SV=1 CANONICAL=A1X283-1" }, "locus": { "chromosome": "5", "start_pos": 172350386, "end_pos": 172333727, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518522.5", "url": "https://www.ensembl.org/id/ENST00000518522.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428076.1", "url": "https://www.ensembl.org/id/ENSP00000428076.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 25, "end_pos": 25, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" }, { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "20943948", "url": "https://glygen.org/publication/PubMed/20943948" } ], "site_lbl": "Tyr25" }, { "start_pos": 279, "end_pos": 279, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "site_lbl": "Ser279" }, { "start_pos": 291, "end_pos": 291, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser291" }, { "start_pos": 353, "end_pos": 353, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr353" }, { "start_pos": 373, "end_pos": 373, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "20943948", "url": "https://glygen.org/publication/PubMed/20943948" } ], "site_lbl": "Tyr373" }, { "start_pos": 499, "end_pos": 499, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "site_lbl": "Ser499" }, { "start_pos": 508, "end_pos": 508, "kinase_uniprot_canonical_ac": "P12931-1", "kinase_gene_name": "SRC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "20943948", "url": "https://glygen.org/publication/PubMed/20943948" } ], "site_lbl": "Tyr508" }, { "start_pos": 508, "end_pos": 508, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "20943948", "url": "https://glygen.org/publication/PubMed/20943948" } ], "site_lbl": "Tyr508" }, { "start_pos": 528, "end_pos": 528, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "site_lbl": "Ser528" }, { "start_pos": 679, "end_pos": 679, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser679" }, { "start_pos": 843, "end_pos": 843, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "site_lbl": "Ser843" }, { "start_pos": 855, "end_pos": 855, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ], "site_lbl": "Tyr855" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Abram CL, Seals DF, Pass I, Salinsky D, Maurer L, Roth TM, Courtneidge SA", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "reference": [ { "type": "PubMed", "id": "12615925", "url": "https://glygen.org/publication/PubMed/12615925" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "TiO(2)-based phosphoproteomic analysis of the plasma membrane and the effects of phosphatase inhibitor treatment.", "journal": "Journal of proteome research", "date": "2008", "authors": "Thingholm TE, Larsen MR, Ingrell CR, Kassem M, Jensen ON", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "reference": [ { "type": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" }, { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion.", "journal": "FEBS J.", "date": "2008", "authors": "Hishida T, Eguchi T, Osada S, Nishizuka M, Imagawa M", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "reference": [ { "type": "PubMed", "id": "18959745", "url": "https://glygen.org/publication/PubMed/18959745" } ] }, { "title": "Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry.", "journal": "BMC medical genetics", "date": "2009", "authors": "Vogel CI, Greene B, Scherag A, Muller TD, Friedel S, Grallert H, Heid IM, Illig T, Wichmann HE, Schafer H, Hebebrand J, Hinney A", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ], "reference": [ { "type": "PubMed", "id": "19228371", "url": "https://glygen.org/publication/PubMed/19228371" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity.", "journal": "Science signaling", "date": "2009-09-15", "authors": "Gianni Davide, Diaz Bego\u00f1a, Taulet Nicolas, Fowler Bruce, Courtneidge Sara A, Bokoch Gary M", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "reference": [ { "type": "PubMed", "id": "19755710", "url": "https://glygen.org/publication/PubMed/19755710" } ] }, { "title": "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.", "journal": "BMC Immunol.", "date": "2009", "authors": "Voss M, Lettau M, Janssen O", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "reference": [ { "type": "PubMed", "id": "19807924", "url": "https://glygen.org/publication/PubMed/19807924" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" }, { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.", "journal": "American journal of human genetics", "date": "2010", "authors": "Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millan JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" }, { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ], "reference": [ { "type": "PubMed", "id": "20137777", "url": "https://glygen.org/publication/PubMed/20137777" } ] }, { "title": "Direct interaction between Tks proteins and the N-terminal proline-rich region (PRR) of NoxA1 mediates Nox1-dependent ROS generation.", "journal": "European journal of cell biology", "date": "2011", "authors": "Gianni Davide, DerMardirossian C\u00e9line, Bokoch Gary M", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "reference": [ { "type": "PubMed", "id": "20609497", "url": "https://glygen.org/publication/PubMed/20609497" } ] }, { "title": "c-Src-mediated phosphorylation of NoxA1 and Tks4 induces the reactive oxygen species (ROS)-dependent formation of functional invadopodia in human colon cancer cells.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Gianni D, Taulet N, DerMardirossian C, Bokoch GM", "evidence": [ { "database": "iPTMnet", "id": "A1X283", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A1X283" } ], "reference": [ { "type": "PubMed", "id": "20943948", "url": "https://glygen.org/publication/PubMed/20943948" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "A1X283", "url": "https://www.uniprot.org/uniprot/A1X283" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells.", "journal": "Cells", "date": "2019", "authors": "Szeder B, Tarnoki-Zach J, Lakatos D, Vas V, Kudlik G, Mero B, Koprivanacz K, Banyai L, Hamori L, Rona G, Czirok A, Furedi A, Buday AL", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ], "reference": [ { "type": "PubMed", "id": "31671862", "url": "https://glygen.org/publication/PubMed/31671862" } ] }, { "title": "Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells.", "journal": "International journal of molecular sciences", "date": "2023-01-09", "authors": "Jacksi Mevan, Schad Eva, Buday L\u00e1szl\u00f3, Tantos Agnes", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ], "reference": [ { "type": "PubMed", "id": "36674824", "url": "https://glygen.org/publication/PubMed/36674824" } ] }, { "title": "Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma.", "journal": "Life sciences", "date": "2023-05-19", "authors": "Zhu Ying, Hu Yunhong, Wang Peipei, Dai Xinyang, Fu Yuhan, Xia Yuwei, Sun Leitao, Ruan Shanming", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ], "reference": [ { "type": "PubMed", "id": "37211344", "url": "https://glygen.org/publication/PubMed/37211344" } ] }, { "title": "Studying the Association of TKS4 and CD2AP Scaffold Proteins and Their Implications in the Partial Epithelial-Mesenchymal Transition (EMT) Process.", "journal": "International journal of molecular sciences", "date": "2023-10-13", "authors": "Kurilla Anita, L\u00e1szl\u00f3 Loretta, Tak\u00e1cs Tam\u00e1s, Tilajka \u00c1lmos, Luk\u00e1cs Laura, Nov\u00e1k Julianna, Pancsa Rita, Buday L\u00e1szl\u00f3, Vas Vir\u00e1g", "evidence": [ { "database": "RefSeq", "id": "NP_001017995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017995" } ], "reference": [ { "type": "PubMed", "id": "37894817", "url": "https://glygen.org/publication/PubMed/37894817" } ] } ], "pathway": [ { "id": "hsa:285590", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:285590", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A5G2QR03-1", "protein_name": "SH3 and PX domains 2B", "gene_name": 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