{ "uniprot_canonical_ac": "O95866-1", "uniprot_ac": "O95866", "uniprot_id": "G6B_HUMAN", "mass": { "chemical_mass": 26163.0, "monoisotopic_mass": 26163.0 }, "refseq": { "ac": "NP_079536", "name": "megakaryocyte and platelet inhibitory receptor G6b isoform G6b-A precursor", "summary": "This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" }, "gene_names": [ { "name": "MPIG6B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95866", "id": "O95866" }, { "name": "C6orf25; G6b; G6b-B; NG31; THAMY", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536", "id": "NP_079536" }, { "name": "C6orf25", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95866", "id": "O95866" }, { "name": "G6B-B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95866", "id": "O95866" }, { "name": "G6B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95866", "id": "O95866" }, { "name": "MPIG6B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536", "id": "NP_079536" } ], "protein_names": [ { "name": "Megakaryocyte and platelet inhibitory receptor G6b", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95866" }, { "name": "Protein G6b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95866" }, { "name": "immunoglobulin receptor; protein G6b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536", "id": "NP_079536" }, { "name": "megakaryocyte and platelet inhibitory receptor G6b isoform G6b-A precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536", "id": "NP_079536" } ], "function": [ { "annotation": "Autosomal recessive loss-of-function mutations in G6b-B (MPIG6B) cause congenital macrothrombocytopenia with focal myelofibrosis. G6b-B has orthologous physiological functions in human and mice regulating megakaryocyte and platelet production and function.", "evidence": [ { "database": "RefSeq", "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" }, { "database": "PubMed", "id": "29898956", "url": "https://glygen.org/publication/PubMed/29898956" } ] }, { "annotation": "Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.", "evidence": [ { "database": "RefSeq", "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" }, { "database": "PubMed", "id": "31276734", "url": "https://glygen.org/publication/PubMed/31276734" } ] }, { "annotation": "Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?", "evidence": [ { "database": "RefSeq", "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" }, { "database": "PubMed", "id": "33871931", "url": "https://glygen.org/publication/PubMed/33871931" } ] }, { "annotation": "Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801).", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866#function" }, { "database": "PubMed", "id": "17311996", "url": "https://glygen.org/publication/PubMed/17311996" }, { "database": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" }, { "database": "PubMed", "id": "27743390", "url": "https://glygen.org/publication/PubMed/27743390" } ] }, { "annotation": "Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866#function" }, { "database": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" } ] }, { "annotation": "Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.", "evidence": [ { "database": "RefSeq", "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" }, { "database": "PubMed", "id": "32386542", "url": "https://glygen.org/publication/PubMed/32386542" } ] }, { "annotation": "This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" } ] }, { "annotation": "Using platelets from humans and genetically modified mice, we demonstrate that binding of G6b-B to heparan sulfate and multivalent heparin inhibits platelet and megakaryocyte function by inducing downstream signaling via the tyrosine phosphatases Shp1 and Shp2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_079536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079536" }, { "database": "PubMed", "id": "31436532", "url": "https://glygen.org/publication/PubMed/31436532" } ] } ], "disease": [ { "disease_id": "MONDO:0044316", "recommended_name": { "id": "MONDO:0044316", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044316", "name": "thrombocytopenia, anemia, and myelofibrosis", "description": "" }, "synonyms": [ { "id": "MONDO:0044316", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044316", "name": "thrombocytopenia, anemia, and myelofibrosis", "description": "" }, { "id": "MONDO:0044316", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044316", "name": "THAMY", "description": "" }, { "id": "MIM:617441", "resource": "MIM", "url": "https://www.omim.org/entry/617441", "name": "Thrombocytopenia, anemia, and myelofibrosis", "description": "Thrombocytopenia, anemia, and myelofibrosis" } ], "evidence": [ { "id": "617441", "database": "MIM", "url": "https://www.omim.org/entry/617441" } ] } ], "snv": [ { "evidence": [ { "id": "rs778675959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778675959" }, { "id": "rs778675959", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778675959" }, { "id": "rs778675959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778675959#frequency_tab" }, { "id": "rs778675959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778675959" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 32, "end_pos": 32, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "6", "chr_pos": "31723671", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N32", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 211, "end_pos": 211, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes the inhibitory effect against ligand-induced activation of PLCG2 by CLEC1B and GP6:FCER1G; when associated with F-237.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "18955485", "url": "https://glygen.org/publication/PubMed/18955485" } ] }, { "start_pos": 211, "end_pos": 211, "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of tyrosine phosphorylation and loss of interaction with PTPN6 and PTPN11.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" } ] }, { "start_pos": 237, "end_pos": 237, "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes the inhibitory effect against ligand-induced activation of PLCG2 by CLEC1B and GP6:FCER1G; when associated with F-237.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "18955485", "url": "https://glygen.org/publication/PubMed/18955485" } ] }, { "start_pos": 237, "end_pos": 237, "sequence_org": "Y", "sequence_mut": "F", "comment": "Reduced level of tyrosine phosphorylation and interaction with PTPN6 and PTPN11.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95866", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95866" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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" 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"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": "" }, { 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"categories": [ "Protein" ] }, { "id": "O95866-7", "url": "https://www.uniprot.org/uniprot/O95866-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV", "length": 241, "header": "sp|O95866-1|G6B_HUMAN Isoform 1 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JJG8-1", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIGPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV", "length": 241, "header": "tr|A0A0G2JJG8-1|A0A0G2JJG8_HUMAN Computationally mapped isoform of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 3030118, "end_pos": 3028430, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441161.2", "url": "https://www.ensembl.org/id/ENST00000441161.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000407677.2", "url": "https://www.ensembl.org/id/ENSP00000407677.2" } ] } }, { "isoform_ac": "A0A140T9L8-1", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIGPLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTEPALCGSGPSSPQQAPPAVHSGPC", "length": 237, "header": "tr|A0A140T9L8-1|G6B_HUMAN Computationally mapped isoform of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 3030087, "end_pos": 3028430, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438769.6", "url": "https://www.ensembl.org/id/ENST00000438769.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000407683.2", "url": "https://www.ensembl.org/id/ENSP00000407683.2" } ] } }, { "isoform_ac": "A0A140T9V1-1", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGACPRNRLDHSLDLLCPPHIAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV", "length": 217, "header": "tr|A0A140T9V1-1|A0A140T9V1_HUMAN Computationally mapped isoform of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 3030118, "end_pos": 3028430, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442871.6", "url": "https://www.ensembl.org/id/ENST00000442871.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000414621.2", "url": "https://www.ensembl.org/id/ENSP00000414621.2" } ] } }, { "isoform_ac": "B7ZLJ5-1", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPVRAWGWEGDSQNL", "length": 220, "header": "tr|B7ZLJ5-1|B7ZLJ5_HUMAN Computationally mapped isoform of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "6", "start_pos": 31724883, "end_pos": 31723384, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480039.5", "url": "https://www.ensembl.org/id/ENST00000480039.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419306.1", "url": "https://www.ensembl.org/id/ENSP00000419306.1" } ] } }, { "isoform_ac": "F8WDG3-1", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSAPDPAAGRWVGARTGSFGPGLVAAQAPAPATDSTTP", "length": 125, "header": "tr|F8WDG3-1|G6B_HUMAN Computationally mapped isoform of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "6", "start_pos": 31724619, "end_pos": 31723384, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000485548.5", "url": "https://www.ensembl.org/id/ENST00000485548.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420355.1", "url": "https://www.ensembl.org/id/ENSP00000420355.1" } ] } }, { "isoform_ac": "O95866-1", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV", "length": 241, "header": "sp|O95866-1|G6B_HUMAN Isoform 1 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_DBB_CTG1", "start_pos": 2972833, "end_pos": 2971146, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415728.2", "url": "https://www.ensembl.org/id/ENST00000415728.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000408430.2", "url": "https://www.ensembl.org/id/ENSP00000408430.2" } ] } }, { "isoform_ac": "O95866-2", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTEPALCGSGPSSPQQAPPAVHSGPC", "length": 237, "header": "sp|O95866-2|G6B_HUMAN Isoform 2 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "6", "start_pos": 31725040, "end_pos": 31723384, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375809.7", "url": "https://www.ensembl.org/id/ENST00000375809.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000364967.3", "url": "https://www.ensembl.org/id/ENSP00000364967.3" } ] } }, { "isoform_ac": "O95866-3", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGACPRNRFDHSLDLLCPPHIAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV", "length": 217, "header": "sp|O95866-3|G6B_HUMAN Isoform 3 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 2980882, "end_pos": 2979195, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383411.8", "url": "https://www.ensembl.org/id/ENST00000383411.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000372903.4", "url": "https://www.ensembl.org/id/ENSP00000372903.4" } ] } }, { "isoform_ac": "O95866-4", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTEPALCGSGPSSPQQAPPAVHSGPC", "length": 193, "header": "sp|O95866-4|G6B_HUMAN Isoform 4 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 3202328, "end_pos": 3200672, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417610.2", "url": "https://www.ensembl.org/id/ENST00000417610.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000412747.2", "url": "https://www.ensembl.org/id/ENSP00000412747.2" } ] } }, { "isoform_ac": "O95866-5", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV", "length": 197, "header": "sp|O95866-5|G6B_HUMAN Isoform 5 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 3030118, "end_pos": 3028430, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433769.6", "url": "https://www.ensembl.org/id/ENST00000433769.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000413647.2", "url": "https://www.ensembl.org/id/ENSP00000413647.2" } ] } }, { "isoform_ac": "O95866-6", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFGETNSTPFSFSYMPTPHPSIPESEPLLGADTLVTFSPSFSSVPPT", "length": 225, "header": "sp|O95866-6|G6B_HUMAN Isoform 6 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": {} }, { "isoform_ac": "O95866-7", "url": "", "sequence": { "sequence": "MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTGKGMGMGRG", "length": 222, "header": "sp|O95866-7|G6B_HUMAN Isoform 7 of Megakaryocyte and platelet inhibitory receptor G6b OS=Homo sapiens OX=9606 GN=MPIG6B PE=1 SV=1 CANONICAL=O95866-1" }, "locus": { "chromosome": "6", "start_pos": 31724870, "end_pos": 31723384, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375810.8", "url": "https://www.ensembl.org/id/ENST00000375810.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000364968.4", "url": "https://www.ensembl.org/id/ENSP00000364968.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "evidence": [ { "id": "O95866", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95866#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 73, "start_aa": "Thr", "end_pos": 73, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr73", "evidence": [ { "id": "O95866", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 211, "end_pos": 211, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" }, { "database": "iPTMnet", "id": "O95866", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95866" }, { "database": "IntAct", "id": "O95866", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95866*" } ], "site_lbl": "Tyr211" }, { "start_pos": 226, "end_pos": 226, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95866", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95866" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "phospho.ELM", "id": "O95866", "url": "http://phospho.elm.eu.org/byAccession/O95866.html" } ], "site_lbl": "Ser226" }, { "start_pos": 227, "end_pos": 227, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95866", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95866" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "phospho.ELM", "id": "O95866", "url": "http://phospho.elm.eu.org/byAccession/O95866.html" } ], "site_lbl": "Thr227" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Tyrosine phosphorylation of SLP-76 is downstream of Syk following stimulation of the collagen receptor in platelets.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gross BS, Lee JR, Clements JL, Turner M, Tybulewicz VL, Findell PR, Koretzky GA, Watson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-114604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114604" } ], "reference": [ { "type": "PubMed", "id": "10026222", "url": "https://glygen.org/publication/PubMed/10026222" } ] }, { "title": "Evidence that phospholipase C-gamma2 interacts with SLP-76, Syk, Lyn, LAT and the Fc receptor gamma-chain after stimulation of the collagen receptor glycoprotein VI in human platelets.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Gross BS, Melford SK, Watson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-114604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114604" } ], "reference": [ { "type": "PubMed", "id": "10469124", "url": "https://glygen.org/publication/PubMed/10469124" } ] }, { "title": "Vav2 activates c-fos serum response element and CD69 expression but negatively regulates nuclear factor of activated T cells and interleukin-2 gene activation in T lymphocyte.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tartare-Deckert S, Monthouel MN, Charvet C, Foucault I, Van Obberghen E, Bernard A, Altman A, Deckert M", "evidence": [ { "database": "Reactome", "id": "R-HSA-114604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114604" } ], "reference": [ { "type": "PubMed", "id": "11262396", "url": "https://glygen.org/publication/PubMed/11262396" } ] }, { "title": "Structure and function of Syk protein-tyrosine kinase.", "journal": "Journal of biochemistry", "date": "2001", "authors": "Sada K, Takano T, Yanagi S, Yamamura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-114604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114604" } ], "reference": [ { "type": "PubMed", "id": "11481033", "url": "https://glygen.org/publication/PubMed/11481033" } ] }, { "title": "G6b, a novel immunoglobulin superfamily member encoded in the human major histocompatibility complex, interacts with SHP-1 and SHP-2.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "de Vet EC, Aguado B, Campbell RD", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "iPTMnet", "id": "O95866-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95866-1" } ], "reference": [ { "type": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nature biotechnology", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Signaling role for phospholipase C gamma 2 in platelet glycoprotein Ib alpha calcium flux and cytoskeletal reorganization. Involvement of a pathway distinct from FcR gamma chain and Fc gamma RIIA.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mangin P, Yuan Y, Goncalves I, Eckly A, Freund M, Cazenave JP, Gachet C, Jackson SP, Lanza F", "evidence": [ { "database": "Reactome", "id": "R-HSA-114604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114604" } ], "reference": [ { "type": "PubMed", "id": "12813055", "url": "https://glygen.org/publication/PubMed/12813055" } ] }, { "title": "Integrin alpha IIb beta 3-dependent calcium signals regulate platelet-fibrinogen interactions under flow. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "megakaryocyte differentiation", "id": "GO:0030219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030219", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "megakaryocyte and platelet inhibitory receptor G6b O-glycosylated 1 (human)", "definition": "A megakaryocyte and platelet inhibitory receptor G6b (human) that has been O-glycosylated at the residue equivalent to Thr-73 of the amino acid sequence represented by UniProtKB:O95866-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O95866-1, Thr-73, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050931", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050931" } ] } ], "site_annotation": [ { "start_pos": 32, "end_pos": 34, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "All isoforms are N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "23112346", "url": "https://glygen.org/publication/PubMed/23112346" }, { "database": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" } ] }, { "annotation": "Isoform E is O-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": "https://www.uniprot.org/uniprot/O95866" }, { "database": "PubMed", "id": "11544253", "url": "https://glygen.org/publication/PubMed/11544253" } ] }, { "annotation": "Phosphorylated.", "evidence": [ { "database": "UniProtKB", "id": "O95866", "url": 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