{ "uniprot_canonical_ac": "P15153-1", "uniprot_ac": "P15153", "uniprot_id": "RAC2_HUMAN", "mass": { "chemical_mass": 21429.0, "monoisotopic_mass": 21429.0 }, "refseq": { "ac": "NP_002863", "name": "ras-related C3 botulinum toxin substrate 2", "summary": "This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863" }, "gene_names": [ { "name": "RAC2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P15153", "id": "P15153" }, { "name": "EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C; p21-Rac2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863", "id": "NP_002863" }, { "name": "RAC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863", "id": "NP_002863" }, { "name": "hCG_1811995", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P15153", "id": "P15153" } ], "protein_names": [ { "name": "Ras-related C3 botulinum toxin substrate 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P15153" }, { "name": "GX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P15153" }, { "name": "Small G protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P15153" }, { "name": "p21-Rac2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P15153" }, { "name": "ras-related C3 botulinum toxin substrate 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863", "id": "NP_002863" }, { "name": "small G protein; ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2); Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863", "id": "NP_002863" } ], "function": [ { "annotation": "Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863" }, { "database": "PubMed", "id": "36617178", "url": "https://glygen.org/publication/PubMed/36617178" } ] }, { "annotation": "Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863" }, { "database": "PubMed", "id": "34943902", "url": "https://glygen.org/publication/PubMed/34943902" } ] }, { "annotation": "Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.", "evidence": [ { "database": "UniProtKB", "id": "P15153", "url": "https://www.uniprot.org/uniprot/P15153#function" }, { "database": "PubMed", "id": "1660188", "url": "https://glygen.org/publication/PubMed/1660188" }, { "database": "PubMed", "id": "30723080", "url": "https://glygen.org/publication/PubMed/30723080" } ] }, { "annotation": "Rac2 regulates immune complex-mediated granule polarization and exocytosis in neutrophils.", "evidence": [ { "database": "RefSeq", "id": "NP_002863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863" }, { "database": "PubMed", "id": "37017007", "url": "https://glygen.org/publication/PubMed/37017007" } ] }, { "annotation": "This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_002863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002863" } ] } ], "disease": [ { "disease_id": "DOID:0112061", "recommended_name": { "id": "DOID:0112061", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112061", "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "description": "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1." }, "synonyms": [ { "id": "DOID:0112061", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112061", "name": "IMD73B", "description": "" }, { "id": "MONDO:0033554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033554", "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "description": "" }, { "id": "MONDO:0033554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033554", "name": "IMD73B", "description": "" }, { "id": "MONDO:0033554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033554", "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "description": "" }, { "id": "MIM:618986", "resource": "MIM", "url": "https://www.omim.org/entry/618986", "name": "Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia", "description": "Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia" } ], "evidence": [ { "id": "618986", "database": "MIM", "url": "https://www.omim.org/entry/618986" } ] }, { "disease_id": "DOID:0112062", "recommended_name": { "id": "DOID:0112062", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112062", "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "description": "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0112062", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112062", "name": "IMD73C", "description": "" }, { "id": "MONDO:0033555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033555", "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "description": "" }, { "id": "MONDO:0033555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033555", "name": "IMD73C", "description": "" }, { "id": "MONDO:0033555", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033555", "name": "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA", "description": "" }, { "id": "MIM:618987", "resource": "MIM", "url": "https://www.omim.org/entry/618987", "name": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia", "description": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia" } ], "evidence": [ { "id": "618987", "database": "MIM", "url": "https://www.omim.org/entry/618987" } ] }, { "disease_id": "DOID:0112064", "recommended_name": { "id": "DOID:0112064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112064", "name": "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis", "description": "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1." }, "synonyms": [ { "id": "DOID:0112064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112064", "name": "IMD73A", "description": "" }, { "id": "DOID:0112064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112064", "name": "neutrophil immunodeficiency syndrome", "description": "" }, { "id": "MONDO:0011988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011988", "name": "neutrophil immunodeficiency syndrome", "description": "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." }, { "id": "MONDO:0011988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011988", "name": "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis", "description": "" }, { "id": "MONDO:0011988", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011988", "name": "neutrophil immunodeficiency syndrome", "description": "" }, { "id": "MIM:608203", "resource": "MIM", "url": "https://www.omim.org/entry/608203", "name": "Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis", "description": "Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis" } ], "evidence": [ { "id": "608203", "database": "MIM", "url": "https://www.omim.org/entry/608203" } ] } ], "snv": [ { "evidence": [ { "id": "rs373618247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373618247" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 32, "end_pos": 32, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (Y->H).", "chr_id": "22", "chr_pos": "37241600", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y32", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1425346700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1425346700" }, { "id": "rs1425346700", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1425346700#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 41, "end_pos": 41, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "22", "chr_pos": "37232883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1601672693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601672693" }, { "id": "rs1601672693", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601672693" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 41, "end_pos": 41, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "22", "chr_pos": "37232905", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S41", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 189, "end_pos": 189, "sequence_org": "C", "sequence_mut": "W", "comment": "Abolishes in vitro prenylation.", "evidence": [ { "database": "UniProtKB", "id": "P15153", "url": "https://www.uniprot.org/uniprot/P15153" }, { "database": "PubMed", "id": "1903399", "url": "https://glygen.org/publication/PubMed/1903399" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "82.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000128340", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000128340" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P15153", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15153" } ], "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 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"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 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"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, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P15153", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15153" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", 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"https://www.ensembl.org/id/ENST00000406508.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385270.1", "url": "https://www.ensembl.org/id/ENSP00000385270.1" } ] } }, { "isoform_ac": "B1AH78-1", "url": "", "sequence": { "sequence": "MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAGQEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLRDDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLK", "length": 166, "header": "tr|B1AH78-1|RAC2_HUMAN Computationally mapped isoform of Ras-related C3 botulinum toxin substrate 2 OS=Homo sapiens OX=9606 GN=RAC2 PE=1 SV=1 CANONICAL=P15153-1" }, "locus": { "chromosome": "22", "start_pos": 37244148, "end_pos": 37226754, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441619.5", "url": "https://www.ensembl.org/id/ENST00000441619.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403778.1", "url": "https://www.ensembl.org/id/ENSP00000403778.1" } ] } }, { "isoform_ac": "B1AH79-1", "url": "", "sequence": { "sequence": "MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVPGRPCALLQDAEAGLSSDVEGACWCQTQEGRMTGEAPAPPWPALRGPHHS", "length": 86, "header": "tr|B1AH79-1|RAC2_HUMAN Computationally mapped isoform of Ras-related C3 botulinum toxin substrate 2 OS=Homo sapiens OX=9606 GN=RAC2 PE=1 SV=1 CANONICAL=P15153-1" }, "locus": { "chromosome": "22", "start_pos": 37244148, "end_pos": 37241016, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401529.3", "url": "https://www.ensembl.org/id/ENST00000401529.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000385666.3", "url": "https://www.ensembl.org/id/ENSP00000385666.3" } ] } }, { "isoform_ac": "B1AH80-1", "url": "", "sequence": { "sequence": "MQAIKAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAGQEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLRDDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLKTVFDEAIRAVLCPQPTRQQKRACSLL", "length": 185, "header": "tr|B1AH80-1|RAC2_HUMAN Computationally mapped isoform of Ras-related C3 botulinum toxin substrate 2 OS=Homo sapiens OX=9606 GN=RAC2 PE=1 SV=1 CANONICAL=P15153-1" }, "locus": { "chromosome": "22", "start_pos": 37244148, "end_pos": 37226676, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405484.5", "url": "https://www.ensembl.org/id/ENST00000405484.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385590.1", "url": "https://www.ensembl.org/id/ENSP00000385590.1" } ] } }, { "isoform_ac": "P15153-1", "url": "", "sequence": { "sequence": "MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAGQEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLRDDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLKTVFDEAIRAVLCPQPTRQQKRACSLL", "length": 192, "header": "sp|P15153-1|RAC2_HUMAN Isoform 1 of Ras-related C3 botulinum toxin substrate 2 OS=Homo sapiens OX=9606 GN=RAC2 PE=1 SV=1 CANONICAL=P15153-1" }, "locus": { "chromosome": "22", "start_pos": 37244148, "end_pos": 37226676, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000249071.11", "url": "https://www.ensembl.org/id/ENST00000249071.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000249071.6", "url": "https://www.ensembl.org/id/ENSP00000249071.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 17, "start_aa": "Thr", "end_pos": 17, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr17", "evidence": [ { "id": "P15153", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P15153" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "24141704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24141704" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P15153", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P15153" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported", "site_seq": "Y", "relation": "attached", "comment": "O-linked (GlcNAc) tyrosine; by Photorhabdus PAU_02230 O-GlcNAcylation", "start_pos": 32, "start_aa": "Tyr", "end_pos": 32, "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr32", "evidence": [ { "id": "P15153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15153#ptm_processing" }, { "id": "24141704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24141704" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 41, "start_aa": "Ser", "end_pos": 41, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser41", "evidence": [ { "id": "P15153", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P15153" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "24141704", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24141704" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P15153", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P15153" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "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": "NADPH oxidase: an update.", "journal": "Blood", "date": "1999", "authors": "Babior BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1222556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1222556" } ], "reference": [ { "type": "PubMed", "id": "10029572", "url": "https://glygen.org/publication/PubMed/10029572" } ] }, { "title": "Deficiency of the hematopoietic cell-specific Rho family GTPase Rac2 is characterized by abnormalities in neutrophil function and host defense.", "journal": "Immunity", "date": "1999", "authors": "Roberts AW, Kim C, Zhen L, Lowe JB, Kapur R, Petryniak B, Spaetti A, Pollock JD, Borneo JB, Bradford GB, Atkinson SJ, Dinauer MC, Williams DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" } ], "reference": [ { "type": "PubMed", "id": "10072071", "url": "https://glygen.org/publication/PubMed/10072071" } ] }, { "title": "Activation of serum- and glucocorticoid-regulated protein kinase by agonists that activate phosphatidylinositide 3-kinase is mediated by 3-phosphoinositide-dependent protein kinase-1 (PDK1) and PDK2.", "journal": "The Biochemical journal", "date": "1999", "authors": "Kobayashi T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604" } ], "reference": [ { "type": "PubMed", "id": "10191262", "url": "https://glygen.org/publication/PubMed/10191262" } ] }, { "title": "Priming of human neutrophil respiratory burst by granulocyte/macrophage colony-stimulating factor (GM-CSF) involves partial phosphorylation of p47(phox).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Dang PM, Dewas C, Gaudry M, Fay M, Pedruzzi E, Gougerot-Pocidalo MA, El Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" } ], "reference": [ { "type": "PubMed", "id": "10400704", "url": "https://glygen.org/publication/PubMed/10400704" } ] }, { "title": "Tetratricopeptide repeat (TPR) motifs of p67(phox) participate in interaction with the small GTPase Rac and activation of the phagocyte NADPH oxidase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Koga H, Terasawa H, Nunoi H, Takeshige K, Inagaki F, Sumimoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" } ], "reference": [ { "type": "PubMed", "id": "10455184", "url": "https://glygen.org/publication/PubMed/10455184" } ] }, { "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": "Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Nishihara H, Kobayashi S, Hashimoto Y, Ohba F, Mochizuki N, Kurata T, Nagashima K, Matsuda M", "evidence": [ { "database": "UniProtKB", "id": "P15153", "url": "https://www.uniprot.org/uniprot/P15153" } ], "reference": [ { "type": "PubMed", "id": "10559471", "url": "https://glygen.org/publication/PubMed/10559471" } ] }, { "title": "The Rac-RhoGDI complex and the structural basis for the regulation of Rho proteins by RhoGDI.", "journal": "Nat. Struct. Biol.", "date": "2000", "authors": "Scheffzek K, Stephan I, Jensen ON, Illenberger D, Gierschik P", "evidence": [ { "database": "UniProtKB", "id": "P15153", "url": "https://www.uniprot.org/uniprot/P15153" } ], "reference": [ { "type": "PubMed", "id": "10655614", "url": "https://glygen.org/publication/PubMed/10655614" } ] }, { "title": "Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis.", "journal": "The EMBO journal", "date": "2000", "authors": "Rothbacher U, Laurent MN, Deardorff MA, Klein PS, Cho KW, Fraser SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "10698942", "url": "https://glygen.org/publication/PubMed/10698942" } ] }, { "title": "Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D", "evidence": [ { "database": "UniProtKB", "id": "P15153", "url": "https://www.uniprot.org/uniprot/P15153" } ], "reference": [ { "type": "PubMed", "id": "10758162", "url": "https://glygen.org/publication/PubMed/10758162" } ] }, { "title": "Trio combines with dock to regulate Pak activity during photoreceptor axon pathfinding in Drosophila.", "journal": "Cell", "date": "2000", "authors": "Newsome TP, Schmidt S, Dietzl G, Keleman K, Asling B, Debant A, Dickson BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013404", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013404" } ], "reference": [ { "type": "PubMed", "id": "10847683", "url": "https://glygen.org/publication/PubMed/10847683" } ] }, { "title": "Role of frizzled 7 in the regulation of convergent extension movements during 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