{ "uniprot_canonical_ac": "O75695-1", "uniprot_ac": "O75695", "uniprot_id": "XRP2_HUMAN", "mass": { "chemical_mass": 39641.0, "monoisotopic_mass": 39641.0 }, "refseq": { "ac": "NP_008846", "name": "protein XRP2", "summary": "The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" }, "gene_names": [ { "name": "RP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75695", "id": "O75695" }, { "name": "DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846", "id": "NP_008846" }, { "name": "RP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846", "id": "NP_008846" } ], "protein_names": [ { "name": "Protein XRP2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75695" }, { "name": "protein XRP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846", "id": "NP_008846" }, { "name": "retinitis pigmentosa 2 (X-linked recessive); RP2, ARL3 GTPase activating protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846", "id": "NP_008846" } ], "function": [ { "annotation": "A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" }, { "database": "PubMed", "id": "38094283", "url": "https://glygen.org/publication/PubMed/38094283" } ] }, { "annotation": "Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as a guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695#function" }, { "database": "PubMed", "id": "22085962", "url": "https://glygen.org/publication/PubMed/22085962" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" }, { "database": "PubMed", "id": "20106869", "url": "https://glygen.org/publication/PubMed/20106869" }, { "database": "PubMed", "id": "11847227", "url": "https://glygen.org/publication/PubMed/11847227" } ] }, { "annotation": "Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" }, { "database": "PubMed", "id": "36882936", "url": "https://glygen.org/publication/PubMed/36882936" } ] }, { "annotation": "Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" }, { "database": "PubMed", "id": "34208932", "url": "https://glygen.org/publication/PubMed/34208932" } ] }, { "annotation": "RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" }, { "database": "PubMed", "id": "32875684", "url": "https://glygen.org/publication/PubMed/32875684" } ] }, { "annotation": "The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" } ] } ], "disease": [ { "disease_id": "DOID:0110415", "recommended_name": { "id": "DOID:0110415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110415", "name": "retinitis pigmentosa 2", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3." }, "synonyms": [ { "id": "DOID:0110415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110415", "name": "RP2", "description": "" }, { "id": "MONDO:0010723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010723", "name": "retinitis pigmentosa 2", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." }, { "id": "MONDO:0010723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010723", "name": "RP2", "description": "" }, { "id": "MONDO:0010723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010723", "name": "RP2 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0010723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010723", "name": "retinitis pigmentosa 2", "description": "" }, { "id": "MONDO:0010723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010723", "name": "retinitis pigmentosa caused by mutation in RP2", "description": "" }, { "id": "MONDO:0010723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010723", "name": "retinitis pigmentosa type 2", "description": "" }, { "id": "MIM:312600", "resource": "MIM", "url": "https://www.omim.org/entry/312600", "name": "Retinitis pigmentosa 2", "description": "Retinitis pigmentosa 2" } ], "evidence": [ { "id": "312600", "database": "MIM", "url": "https://www.omim.org/entry/312600" } ] } ], "snv": [ { "evidence": [ { "id": "O75695", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75695" } ], "glycoeffect": [], "start_pos": 118, "end_pos": 118, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "46853725", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R118", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 101, "end_pos": 101, "sequence_org": "F", "sequence_mut": "A", "comment": "Reduces affinity for mouse ARL3.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { "start_pos": 115, "end_pos": 115, "sequence_org": "Q", "sequence_mut": "A", "comment": "Reduces affinity for mouse ARL3.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { "start_pos": 116, "end_pos": 116, "sequence_org": "Q", "sequence_mut": "A", "comment": "Reduces affinity and GTP-hydrolysis rate for mouse ARL3.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { "start_pos": 118, "end_pos": 118, "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces affinity and GTP-hydrolysis rate for mouse ARL3.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { "start_pos": 120, "end_pos": 120, "sequence_org": "R", "sequence_mut": "H", "comment": "Reduces affinity for mouse ARL3; when associated with S-121.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { "start_pos": 121, "end_pos": 121, "sequence_org": "D", "sequence_mut": 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"comment": "Reduces affinity for mouse ARL3; when associated with A-28.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { "start_pos": 2, "end_pos": 2, "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of membrane association.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "10942419", "url": "https://glygen.org/publication/PubMed/10942419" } ] }, { "start_pos": 31, "end_pos": 31, "sequence_org": "Q", "sequence_mut": "A", "comment": "Does not reduce affinity for mouse ARL3; when associated with A-32.", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "PubMed", "id": "18376416", "url": "https://glygen.org/publication/PubMed/18376416" } ] }, { 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75695", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75695" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75695" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75695", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75695" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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X-linked retinitis pigmentosa assessed in this study.", "journal": "American journal of human genetics", "date": "1999", "authors": "Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "10090907", "url": "https://glygen.org/publication/PubMed/10090907" } ] }, { "title": "Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).", "journal": "Ophthalmic genetics", "date": "1999", "authors": "Rosenberg T, Schwahn U, Feil S, Berger W", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "10520237", "url": "https://glygen.org/publication/PubMed/10520237" } ] }, { "title": "A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Wada Y, Nakazawa M, Abe T, Tamai M", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "10634633", "url": "https://glygen.org/publication/PubMed/10634633" } ] }, { "title": "Novel frameshift mutations in the RP2 gene and polymorphic variants.", "journal": "Human mutation", "date": "2000", "authors": "Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "10862093", "url": "https://glygen.org/publication/PubMed/10862093" } ] }, { "title": "X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "10937588", "url": "https://glygen.org/publication/PubMed/10937588" } ] }, { "title": "Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.", "journal": "Human molecular genetics", "date": "2000", "authors": "Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "10942419", "url": "https://glygen.org/publication/PubMed/10942419" } ] }, { "title": "Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.", "journal": "Human mutation", "date": "2001", "authors": "Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millan JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "11462235", "url": "https://glygen.org/publication/PubMed/11462235" } ] }, { "title": "Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Bartolini F, Bhamidipati A, Thomas S, Schwahn U, Lewis SA, Cowan NJ", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "11847227", "url": "https://glygen.org/publication/PubMed/11847227" } ] }, { "title": "A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.", "journal": "American journal of human genetics", "date": "2002", "authors": "Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "11992260", "url": "https://glygen.org/publication/PubMed/11992260" } ] }, { "title": "Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.", "journal": "Hum. Mol. Genet.", "date": "2002", "authors": "Grayson Celene, Bartolini Francesca, Chapple J Paul, Willison Keith R, Bhamidipati Arunashree, Lewis Sally A, Luthert Philip J, Hardcastle Alison J, Cowan Nicholas J, Cheetham Michael E", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "12417528", "url": "https://glygen.org/publication/PubMed/12417528" } ] }, { "title": "X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "12657579", "url": "https://glygen.org/publication/PubMed/12657579" } ] }, { "title": "RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.", "journal": "American journal of human genetics", "date": "2003", "authors": "Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "14564670", "url": "https://glygen.org/publication/PubMed/14564670" } ] }, { "title": "Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.", "journal": "Structure (London, England : 1993)", "date": "2006", "authors": "Kuhnel K, Veltel S, Schlichting I, Wittinghofer A", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "Reactome", "id": "R-HSA-5624138", "url": 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Cheetham ME", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" }, { "database": "Reactome", "id": "R-HSA-5624138", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5624138" } ], "reference": [ { "type": "PubMed", "id": "20106869", "url": "https://glygen.org/publication/PubMed/20106869" } ] }, { "title": "Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.", "journal": "Journal of cell science", "date": "2011", "authors": "Hurd TW, Fan S, Margolis BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5624138", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5624138" } ], "reference": [ { "type": "PubMed", "id": "21285245", "url": "https://glygen.org/publication/PubMed/21285245" } ] }, { "title": "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.", "journal": "Genes & development", "date": "2011", "authors": "Wright KJ, Baye LM, Olivier-Mason A, 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Commun.", "date": "2014", "authors": "Thinon E, Serwa RA, Broncel M, Brannigan JA, Brassat U, Wright MH, Heal WP, Wilkinson AJ, Mann DJ, Tate EW", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "25255805", "url": "https://glygen.org/publication/PubMed/25255805" } ] }, { "title": "Analysis of protein-coding genetic variation in 60,706 humans.", "journal": "Nature", "date": "2016", "authors": "Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG", "evidence": [ { "database": "UniProtKB", "id": "O75695", "url": "https://www.uniprot.org/uniprot/O75695" } ], "reference": [ { "type": "PubMed", "id": "27535533", "url": "https://glygen.org/publication/PubMed/27535533" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75695", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75695" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.", "journal": "American journal of medical genetics. Part C, Seminars in medical genetics", "date": "2020", "authors": "Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" } ], "reference": [ { "type": "PubMed", "id": "32875684", "url": "https://glygen.org/publication/PubMed/32875684" } ] }, { "title": "Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials.", "journal": "Molecules (Basel, Switzerland)", "date": "2021", "authors": "Khrenova MG, Bulavko ES, Mulashkin FD, Nemukhin AV", "evidence": [ { "database": "RefSeq", "id": "NP_008846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008846" } ], "reference": [ { "type": "PubMed", "id": 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