Affinage

NUDT19

Acyl-coenzyme A diphosphatase NUDT19 · UniProt A8MXV4

Round 2 corrected
Length
375 aa
Mass
42.2 kDa
Annotated
2026-04-29
130 papers in source corpus 7 papers cited in narrative 7 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NUDT19 is a peroxisomal Nudix hydrolase that degrades free CoA and acyl-CoA esters by cleaving their diphosphate bond to yield 3',5'-ADP and 4'-(acyl)phosphopantetheine, thereby functioning as a tissue-specific regulator of coenzyme A homeostasis (PMID:16185196, PMID:29378847). The enzyme requires Mg²⁺ or Mn²⁺ for catalysis, operates optimally at alkaline pH, and accepts a broad range of acyl-CoA substrates including choloyl-CoA and branched-chain fatty acyl-CoAs; it is specifically inhibited by chenodeoxycholic acid, which competes with CoA for binding (PMID:16185196, PMID:29378847). Deletion of Nudt19 in mice elevates kidney CoA levels without regulation by nutritional state, distinguishing it from the liver paralog Nudt7, while knockdown in hepatocytes increases mitochondrial ATP production and fatty acid oxidation, linking NUDT19 activity to lipid metabolic flux (PMID:29378847, PMID:35367353).

Mechanistic history

Synthesis pass · year-by-year structured walk · 5 steps
  1. 1986 Medium

    Initial molecular cloning of the mouse kidney androgen-inducible RP2 gene (later recognized as the Nudt19 ortholog) established that it encodes a broadly expressed ~40 kDa protein, providing the first sequence-level entry point for functional characterization.

    Evidence cDNA and genomic cloning with Northern blot analysis in mouse tissues

    PMID:3755524

    Open questions at the time
    • Biochemical function of the encoded protein was unknown
    • Subcellular localization was not determined
    • Identity as a Nudix hydrolase had not yet been recognized
  2. 1989 Medium

    Genetic and transcriptional analyses across Mus species resolved that androgen inducibility of RP2/Nudt19 in the kidney is controlled by cis-acting regulatory elements linked to the gene, with trans-acting modifiers contributing in certain species, clarifying that transcriptional regulation of this gene varies through distinct evolutionary mechanisms.

    Evidence Nuclear run-on assays, interspecies backcross mapping, and allele-specific primer extension in hybrid mice

    PMID:1766361 PMID:2710112 PMID:3623081

    Open questions at the time
    • Relevance of androgen regulation to CoA metabolism was not explored
    • Whether androgen regulation occurs in human NUDT19 is unknown
    • Cis-regulatory elements were not mapped at nucleotide resolution
  3. 2006 High

    Peroxisome proteomics and in vitro reconstitution identified RP2p/NUDT19 as a Mg²⁺/Mn²⁺-dependent CoA diphosphatase that accepts free CoA, oxidized CoA, and diverse acyl-CoA esters, and that all kidney CoA diphosphatase activity resides in peroxisomes, answering the long-standing question of what biochemical reaction this protein catalyzes.

    Evidence Mouse kidney peroxisome proteomics, in vitro activity assays with multiple substrates, subcellular fractionation, PTS1 signal identification

    PMID:16185196

    Open questions at the time
    • In vivo relevance of the enzymatic activity had not been tested
    • Relationship to other CoA-degrading Nudix hydrolases (e.g., Nudt7) was uncharacterized
    • No structural model was available
  4. 2018 High

    Knockout of Nudt19 in mice elevated kidney CoA levels under ad libitum feeding, establishing its non-redundant in vivo role in CoA homeostasis; identification of chenodeoxycholic acid as a specific competitive inhibitor and domain-swap mutagenesis delineated catalytic determinants distinguishing NUDT19 from the paralog NUDT7.

    Evidence Nudt19 knockout mouse with CoA measurements, in vitro inhibitor competition assays, domain-swap and site-directed mutagenesis of Nudix and CoA signature motifs

    PMID:29378847

    Open questions at the time
    • No crystal structure to explain isoform-specific inhibitor selectivity
    • Physiological consequences of elevated kidney CoA beyond steady-state levels were not characterized
    • Whether NUDT19 loss alters peroxisomal lipid metabolism in vivo was not tested
  5. 2022 Medium

    Knockdown of Nudt19 in hepatocytes increased mitochondrial ATP production and enhanced fatty acid oxidation, extending the enzyme's functional impact beyond peroxisomal CoA degradation to broader mitochondrial energy metabolism and lipid utilization.

    Evidence siRNA knockdown in murine Hepa 1-6 cells with Seahorse metabolic flux analysis and palmitate/oleate challenge

    PMID:35367353

    Open questions at the time
    • Results are from a single hepatocyte cell line and have not been confirmed in vivo or in primary cells
    • Mechanism linking peroxisomal CoA pool changes to mitochondrial ATP production is undefined
    • Pdk4 upregulation was correlative; causal role not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • No crystal structure of NUDT19 exists to explain substrate promiscuity, isoform-specific inhibitor selectivity, or the catalytic consequences of the Nudix/CoA motif divergence from NUDT7; the physiological significance of peroxisomal CoA degradation in tissues beyond kidney and in human disease contexts remains unresolved.
  • No structural data available for NUDT19
  • Human tissue-specific expression and regulation largely uncharacterized
  • Potential role in peroxisomal lipid disorders has not been investigated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016787 hydrolase activity 2
Localization
GO:0005777 peroxisome 2
Pathway
R-HSA-1430728 Metabolism 3

Evidence

Reading pass · 7 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1986 The mouse kidney androgen-inducible RP2 protein (later identified as the Nudt19 ortholog) was characterized as a 357-amino-acid, ~40 kDa proline-rich protein encoded by a single-copy gene with three mRNA forms arising from alternative polyadenylation; mRNA was detected in all tissues examined, suggesting a housekeeping function. cDNA cloning, Northern blot analysis, genomic cloning Nucleic acids research Medium 3755524
1987 Androgen (testosterone) inducibility of the mouse kidney RP2 (Nudt19 ortholog) mRNA varies markedly across Mus species (10–20-fold in M. domesticus, absent in some species), and this variability is inherited as a single Mendelian locus tightly linked to the RP2 gene itself, indicating that cis-acting regulatory elements drive interspecies differences in transcriptional induction. Interspecies comparative Northern blot, genetic backcross analysis, transcriptional induction assays Genetics Medium 3623081
1989 Androgens induce transcription of the mouse kidney RP2 gene (Nudt19 ortholog) through a promoter that is specifically testosterone-sensitive; the gene contains at least two promoters, only one of which is highly androgen-responsive. Reduced inducibility in M. hortulanus maps as a cis-acting element tightly linked (0/47 recombinants) to the RP2 locus. Nuclear run-on transcription assay, interspecies backcross mapping, primer extension, promoter analysis Molecular and cellular biology Medium 2710112
1991 Cis/trans analyses in interspecific mouse hybrids revealed that androgen resistance of the kidney RP2 gene (Nudt19 ortholog) in M. hortulanus is due to a cis-acting element, while that in M. caroli is due to a trans-acting element, demonstrating that distinct genetic mechanisms underlie the convergent androgen-resistant phenotypes in different species. Allele-specific primer extension assay in interspecific heterozygotes, cis/trans genetic analysis Molecular biology and evolution Medium 1766361
2006 Proteomic analysis of mouse kidney peroxisomes identified RP2p (encoded by D7RP2e, the mouse Nudt19 gene) as a peroxisomal Nudix hydrolase containing a Nudix hydrolase domain, a CoA-binding domain, and a C-terminal PTS1 (Ala-His-Leu) peroxisomal targeting signal. In vitro enzyme assays showed it is a CoA diphosphatase active on free CoA, oxidized CoA, and a wide range of acyl-CoA esters (including choloyl-CoA and branched-chain fatty-acyl-CoAs), with optimal activity at pH ≥9 requiring Mg²⁺ or Mn²⁺. Subcellular fractionation demonstrated that all CoA diphosphatase activity in mouse kidney is restricted to peroxisomes. Peroxisome proteomics, in vitro enzyme activity assay, subcellular fractionation, C-terminal PTS1 identification The Biochemical journal High 16185196
2018 Nudt19 is a peroxisomal CoA diphosphohydrolase highly expressed in mouse kidney. It specifically hydrolyzes the diphosphate bond of free CoA and acyl-CoAs, producing 3',5'-ADP and 4'-(acyl)phosphopantetheine. Deletion of Nudt19 in mice elevates kidney CoA levels under ad libitum feeding, demonstrating its role in in vivo CoA regulation in the kidney. Unlike the liver isoform Nudt7, Nudt19 protein and transcript levels are not regulated by fed/fasted state. Chenodeoxycholic acid was identified as a specific Nudt19 inhibitor competing with CoA for binding (does not inhibit Nudt7). Exchange of Nudix and CoA signature motifs between Nudt19 and Nudt7 dramatically decreased kcat, and mutagenesis of conserved residues within these motifs identified amino acids with distinct roles in CoA binding versus hydrolysis in each isoform. Nudt19 knockout mouse analysis, in vitro enzyme assays, inhibitor binding/competition assays, domain-swap and site-directed mutagenesis, CoA level measurements The Journal of biological chemistry High 29378847
2022 Knockdown of Nudt19 in murine Hepa 1-6 hepatocytes increased mitochondrial ATP production by 41% and glycolytic ATP production by 10%. Nudt19 KD cells showed enhanced fatty acid oxidation in response to palmitate or oleate (increased mitochondrial ATP production by 31% and 20%, respectively, and uncoupled respiration by 23% and 30%), accompanied by a 1.3-fold increased abundance of Pdk4, a regulator of pyruvate dehydrogenase. These data identify Nudt19 as a regulator of hepatic lipid metabolism and mitochondrial function. siRNA knockdown, Seahorse metabolic flux analysis (mitochondrial and glycolytic ATP production rates), fatty acid substrate challenge, qPCR/Western blot for Pdk4 Biochimica et biophysica acta. Molecular and cell biology of lipids Medium 35367353

Source papers

Stage 0 corpus · 130 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2018 High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies. Molecular cell 580 29395067
2021 Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Nature 532 33845483
2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell 433 26638075
2005 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome research 409 16344560
2021 A proximity-dependent biotinylation map of a human cell. Nature 339 34079125
2019 Mitochondrial ClpP-Mediated Proteolysis Induces Selective Cancer Cell Lethality. Cancer cell 298 31056398
2012 Seventy-five genetic loci influencing the human red blood cell. Nature 266 23222517
2021 Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Cell metabolism 239 34800366
2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Molecular cell 220 27499296
2002 A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. American journal of human genetics 216 11992260
2018 An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Nature communications 201 29568061
2003 RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. American journal of human genetics 197 14564670
2011 An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes & development 188 22085962
2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. The American journal of psychiatry 186 23377640
2019 A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. Nature immunology 159 30833792
2020 A High-Density Human Mitochondrial Proximity Interaction Network. Cell metabolism 148 32877691
2020 Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids. Stem cell reports 139 32531192
2010 The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Human molecular genetics 114 20106869
2007 Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Human mutation 114 16969763
2013 Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 111 23372056
2012 Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative ophthalmology & visual science 108 23150612
2002 Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Human molecular genetics 106 12417528
2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Investigative ophthalmology & visual science 95 10937588
2000 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. Human molecular genetics 95 10942419
1998 Identification of glycosylated 38-kDa connective tissue growth factor (IGFBP-related protein 2) and proteolytic fragments in human biological fluids, and up-regulation of IGFBP-rP2 expression by TGF-beta in Hs578T human breast cancer cells. The Journal of clinical endocrinology and metabolism 90 9661651
2021 SARS-CoV-2-host proteome interactions for antiviral drug discovery. Molecular systems biology 86 34709727
2014 Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Human molecular genetics 84 25292197
1996 Cloning of a cDNA encoding a novel interleukin-1 receptor related protein (IL 1R-rp2). Journal of neuroimmunology 67 8898719
2021 Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Acta pharmaceutica Sinica. B 66 35256949
2022 Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. Nature communications 65 35831314
2010 RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 65 20625056
2021 Comprehensive interactome profiling of the human Hsp70 network highlights functional differentiation of J domains. Molecular cell 64 33957083
2006 Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity. The Biochemical journal 62 16185196
2010 The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Human molecular genetics 57 20729296
1994 The Drosophila miti-mere gene, a member of the POU family, is required for the specification of the RP2/sibling lineage during neurogenesis. Development (Cambridge, England) 56 8050358
1998 A 29-kilodalton Golgi soluble N-ethylmaleimide-sensitive factor attachment protein receptor (Vti1-rp2) implicated in protein trafficking in the secretory pathway. The Journal of biological chemistry 54 9705316
1995 The miti-mere and pdm1 genes collaborate during specification of the RP2/sib lineage in Drosophila neurogenesis. Molecular and cellular biology 53 7623801
2017 Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. Human molecular genetics 52 28444310
2022 Physical and functional interactome atlas of human receptor tyrosine kinases. EMBO reports 50 35384245
1999 Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. The British journal of ophthalmology 49 10502575
2002 Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2. Investigative ophthalmology & visual science 48 12037013
2019 Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. iScience 45 31536960
2012 Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. Vision research 45 22884633
2013 Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Investigative ophthalmology & visual science 44 23745007
2010 A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities. Journal of the American Chemical Society 42 20178365
2015 Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Human molecular genetics 39 26358772
2012 Positional cloning of rp2 QTL associates the P450 genes CYP6Z1, CYP6Z3 and CYP6M7 with pyrethroid resistance in the malaria vector Anopheles funestus. Heredity 39 22948188
2001 Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Human mutation 39 11462235
1999 Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic genetics 39 10520237
2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. PloS one 37 20877624
2006 Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. Molecular vision 37 17093403
2015 Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. Human molecular genetics 35 26034134
2001 Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Human molecular genetics 35 11371510
1999 Connective tissue growth factor (IGFBP-rP2) expression and regulation in cultured bovine endothelial cells. Endocrinology 34 10098490
2000 Novel frameshift mutations in the RP2 gene and polymorphic variants. Human mutation 32 10862093
2021 The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside. Journal of ginseng research 31 35509820
2010 Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells. Biochemistry 31 20669900
2016 Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. Biochemical Society transactions 30 27911705
2011 Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. Investigative ophthalmology & visual science 30 21282572
2018 Nudt19 is a renal CoA diphosphohydrolase with biochemical and regulatory properties that are distinct from the hepatic Nudt7 isoform. The Journal of biological chemistry 29 29378847
2011 The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic. Human molecular genetics 28 22072390
1996 Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome research 27 8938433
2003 Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic genetics 26 14566651
2000 CTGF (IGFBP-rP2) is specifically expressed in malignant lymphoblasts of patients with acute lymphoblastic leukaemia (ALL). British journal of cancer 26 10952780
2023 TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing. Neuro-oncology 25 36215168
2011 Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PloS one 25 21738648
2019 Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Proteomics 24 31617661
2000 A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. Investigative ophthalmology & visual science 24 10634633
1999 An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis. Experimental and clinical immunogenetics 24 10343159
2018 Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B. Journal of molecular biology 23 29778605
2006 The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. Experimental cell research 23 16457815
1991 Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. Journal of medical genetics 21 1895315
2009 Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Investigative ophthalmology & visual science 20 19516003
2006 Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. Investigative ophthalmology & visual science 20 16936086
2004 An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene. The British journal of ophthalmology 20 15031171
2003 Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting. The Biochemical journal 20 12648035
1979 Characterization and persistence of actinophage RP2 isolated from Streptomyces rimosus ATCC 10970. Journal of general microbiology 20 541659
2013 An alternative model for the role of RP2 protein in flagellum assembly in the African trypanosome. The Journal of biological chemistry 19 24257747
1999 Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections. Human immunology 19 10439316
1998 Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. American journal of human genetics 18 9443860
1989 Molecular genetics of androgen-inducible RP2 gene transcription in the mouse kidney. Molecular and cellular biology 18 2710112
2010 Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. Current eye research 17 20021257
2009 RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa? Expert opinion on therapeutic targets 17 19702441
1987 Evolution of steroid-inducible RP2 mRNA expression in the mouse kidney. Genetics 17 3623081
2022 RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. Ophthalmology 16 36423731
2017 Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. The Journal of biological chemistry 16 28209709
1997 Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Investigative ophthalmology & visual science 16 9418727
2024 A novel PDPN antagonist peptide CY12-RP2 inhibits melanoma growth via Wnt/β-catenin and modulates the immune cells. Journal of experimental & clinical cancer research : CR 15 38167452
2015 Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. Cytoskeleton (Hoboken, N.J.) 14 26383048
2015 Lipid Selectivity, Orientation, and Extent of Membrane Binding of Nonacylated RP2. Biochemistry 12 25844643
2022 Nudix hydrolase NUDT19 regulates mitochondrial function and ATP production in murine hepatocytes. Biochimica et biophysica acta. Molecular and cell biology of lipids 11 35367353
2004 Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? Clinical genetics 11 15032968
2022 Comparative Performance Evaluation of FilmArray BioFire RP2.1 and MAScIR 2.0 Assays for SARS-CoV-2 Detection. Advances in virology 10 35693128
2019 A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. Gene 10 31071385
2017 Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa. Scientific reports 10 28294154
2001 Characterization of PSA-RP2, a protein related to prostate-specific antigen and encoded by alternative hKLK3 transcripts. European journal of biochemistry 10 11502200
2015 An immortalized rat pancreatic stellate cell line RP-2 as a new cell model for evaluating pancreatic fibrosis, inflammation and immunity. Hepatobiliary & pancreatic diseases international : HBPD INT 9 26663014
2020 RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. American journal of medical genetics. Part C, Seminars in medical genetics 8 32875684
2018 Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling. Journal of cell science 8 29361551
1994 Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. Journal of medical genetics 8 7853368
1993 The temperate phages RP2 and RP3 of Streptomyces rimosus. Journal of general microbiology 8 8254321
1991 Evolution of messenger RNA structure and regulation in the genus Mus: the androgen-inducible RP2 mRNAs. Molecular biology and evolution 8 1766361
1986 Amino acid sequence of the testosterone-regulated mouse kidney RP2 protein deduced from its complementary DNA sequence. Nucleic acids research 8 3755524
2017 Variation in Basal Body Localisation and Targeting of Trypanosome RP2 and FOR20 Proteins. Protist 7 28822909
2010 Expression of PSA-RP2, an alternatively spliced variant from the PSA gene, is increased in prostate cancer tissues but the protein is not secreted from prostate cancer cells. Biological chemistry 7 20180647
2016 Reaction Mechanism of Guanosine Triphosphate Hydrolysis by the Vision-Related Protein Complex Arl3-RP2. The journal of physical chemistry. B 6 27043216
1968 An investigation of acid-soluble nuclear proteins of human leucocytes in relation to fraction RP2-L, a component of neoplastic cells. The Biochemical journal 6 16742605
2023 Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations. Clinical & experimental ophthalmology 5 36882936
2023 WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium. Life science alliance 5 37208194
2022 Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males. Eye (London, England) 5 35094030
2021 Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. Molecules (Basel, Switzerland) 5 34208932
2019 Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement. BMJ case reports 5 31079036
2005 Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa. Methods in enzymology 5 16413292
2000 Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity. American journal of ophthalmology 5 11020419
2012 Distribution of polymorphisms IL4-590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau. International journal of molecular epidemiology and genetics 4 22724055
1998 Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype. Ophthalmic genetics 4 9895243
2019 Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina. Frontiers in genetics 3 31024631
2001 Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. Ophthalmic genetics 3 11262649
2022 RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY. Retinal cases & brief reports 2 37643038
2016 Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa. Genetics and molecular research : GMR 2 27323122
2016 Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2 27769321
2001 Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. Mutation research 2 11465545
2023 Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report. BMC ophthalmology 1 37198560
2009 The CNS midline cells and Egfr signaling genes are required for establishment of the RP2 motoneuron lineage in the Drosophila central nervous system. Biochemical and biophysical research communications 1 19250628
2001 Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function. Journal of human genetics 1 11322665
2001 [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families]. Zhonghua yi xue za zhi 1 11798852