{ "uniprot_canonical_ac": "P09693-1", "uniprot_ac": "P09693", "uniprot_id": "CD3G_HUMAN", "mass": { "chemical_mass": 20469.0, "monoisotopic_mass": 20469.0 }, "refseq": { "ac": "NP_000064", "name": "T-cell surface glycoprotein CD3 gamma chain precursor", "summary": "The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064" }, "gene_names": [ { "name": "CD3G", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09693", "id": "P09693" }, { "name": "CD3-GAMMA; CD3GAMMA; IMD17; T3G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064", "id": "NP_000064" }, { "name": "CD3G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064", "id": "NP_000064" }, { "name": "T3G", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09693", "id": "P09693" } ], "protein_names": [ { "name": "T-cell surface glycoprotein CD3 gamma chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09693" }, { "name": "CD3g antigen, gamma polypeptide (TiT3 complex); T-cell receptor T3 gamma chain; T-cell antigen receptor complex, gamma subunit of T3; T-cell surface glycoprotein CD3 gamma chain; CD3g molecule, epsilon (CD3-TCR complex); CD3g molecule, gamma (CD3-TCR complex)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064", "id": "NP_000064" }, { "name": "T-cell receptor T3 gamma chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09693" }, { "name": "T-cell surface glycoprotein CD3 gamma chain precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064", "id": "NP_000064" } ], "function": [ { "annotation": "Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G.", "evidence": [ { "database": "UniProtKB", "id": "P09693", "url": "https://www.uniprot.org/uniprot/P09693#function" }, { "database": "PubMed", "id": "8187769", "url": "https://glygen.org/publication/PubMed/8187769" }, { "database": "PubMed", "id": "2470098", "url": "https://glygen.org/publication/PubMed/2470098" }, { "database": "PubMed", "id": "8636209", "url": "https://glygen.org/publication/PubMed/8636209" } ] }, { "annotation": "Protein level controlled by OTHER KINASES PROTEINS", "evidence": [ { "database": "RefSeq", "id": "NP_000064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064" }, { "database": "PubMed", "id": "1709425", "url": "https://glygen.org/publication/PubMed/1709425" } ] }, { "annotation": "The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064" } ] }, { "annotation": "These data demonstrate that the T-cell repertoire of patients with CD3G mutations is characterized by a molecular signature that may contribute to the increased rate of autoimmunity associated with this condition.", "evidence": [ { "database": "RefSeq", "id": "NP_000064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064" }, { "database": "PubMed", "id": "29653965", "url": "https://glygen.org/publication/PubMed/29653965" } ] } ], "disease": [ { "disease_id": "DOID:0111973", "recommended_name": { "id": "DOID:0111973", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111973", "name": "immunodeficiency 17", "description": "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3." }, "synonyms": [ { "id": "DOID:0111973", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111973", "name": "CD3-gamma deficiency", "description": "" }, { "id": "DOID:0111973", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111973", "name": "IMD17", "description": "" }, { "id": "DOID:0111973", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111973", "name": "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive", "description": "" }, { "id": "DOID:0111973", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111973", "name": "immunodeficiency 17, CD3 gamma deficient", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "combined immunodeficiency due to CD3gamma deficiency", "description": "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "CD3 deficiency", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "CD3-gamma deficiency", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "CD3gamma deficiency", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "IMD17", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "combined immunodeficiency due to CD3gamma deficiency", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "immunodeficiency 17", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "immunodeficiency 17, CD3 gamma deficient", "description": "" }, { "id": "MONDO:0014276", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014276", "name": "immunodeficiency type 17", "description": "" }, { "id": "MIM:615607", "resource": "MIM", "url": "https://www.omim.org/entry/615607", "name": "Immunodeficiency 17", "description": "Immunodeficiency 17" } ], "evidence": [ { "id": "615607", "database": "MIM", "url": "https://www.omim.org/entry/615607" } ] } ], "snv": [ { "evidence": [ { "id": "rs780585252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780585252" }, { "id": "rs780585252", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780585252" }, { "id": "rs780585252", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780585252" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 108, "end_pos": 108, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCI->NCT).", "chr_id": "11", "chr_pos": "118350567", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P09693", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09693" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 150, "end_pos": 150, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "11", "chr_pos": "118351638", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K150", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P09693", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09693" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 54, "end_pos": 54, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIT->NIR).", "chr_id": "11", "chr_pos": "118349824", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T54", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1033882270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033882270" }, { "id": "rs1033882270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033882270#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 92, "end_pos": 92, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->IKS).", "chr_id": "11", "chr_pos": "118349938", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 153, "end_pos": 153, "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes lysosomal targeting.", "evidence": [ { "database": "UniProtKB", "id": "P09693", "url": "https://www.uniprot.org/uniprot/P09693" }, { "database": "PubMed", "id": "1535555", "url": "https://glygen.org/publication/PubMed/1535555" }, { "database": "PubMed", "id": "8187769", "url": "https://glygen.org/publication/PubMed/8187769" } ] }, { "start_pos": 153, "end_pos": 153, "sequence_org": "L", "sequence_mut": "I", "comment": "Diminished but persistent lysosomal targeting.", "evidence": [ { "database": "UniProtKB", "id": "P09693", "url": "https://www.uniprot.org/uniprot/P09693" }, { "database": "PubMed", "id": "1535555", "url": "https://glygen.org/publication/PubMed/1535555" } ] }, { "start_pos": 154, "end_pos": 154, "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes lysosomal targeting.", "evidence": [ { "database": "UniProtKB", "id": "P09693", 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"database": "BioXpress", "id": "P09693", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09693" } ], "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", 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"journal": "The Journal of cell biology", "date": "2000", "authors": "Krause M, Sechi AS, Konradt M, Monner D, Gertler FB, Wehland J", "evidence": [ { "database": "Reactome", "id": "R-HSA-202433", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202433" } ], "reference": [ { "type": "PubMed", "id": "10747096", "url": "https://glygen.org/publication/PubMed/10747096" } ] }, { "title": "The class II phosphoinositide 3-kinase PI3K-C2alpha is concentrated in the trans-Golgi network and present in clathrin-coated vesicles.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Domin J, Gaidarov I, Smith ME, Keen JH, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10766823", "url": "https://glygen.org/publication/PubMed/10766823" } ] }, { "title": "Cytosolic adaptor protein Dab2 is an intracellular ligand of endocytic 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