Affinage

RP2

Protein XRP2 · UniProt O75695

Length
350 aa
Mass
39.6 kDa
Annotated
2026-06-10
100 papers in source corpus 21 papers cited in narrative 19 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RP2 is a dual N-terminally acylated (myristoylated at Gly2, palmitoylated at Cys3) protein that uses this lipid modification to localize to the plasma membrane, the photoreceptor connecting cilium/basal body, and the primary cilium, where it governs ciliary and outer-segment protein trafficking (PMID:10942419, PMID:12037013, PMID:12417528, PMID:20106869, PMID:20729296). Mechanistically, RP2 functions as a GTPase-activating protein for the small GTPase ARL3, binding ARL3 in a nucleotide- and myristoylation-dependent manner and driving an ARL3-GTPase cycle that, together with UNC119b, releases myristoylated cargo such as NPHP3 for delivery to the ciliary membrane (PMID:12417528, PMID:22085962). Through the same axis RP2 promotes membrane association and Rab11-vesicle trafficking of the transducin Gβ1 subunit—an interaction competed by ARL3-GTP and by Gγ1 and dependent on RP2 myristoylation and its TBCC-homology domain (PMID:22072390). RP2 maintains Golgi cohesion and the correct localization of IFT20 and ciliary-tip kinesins Kif17 and Kif7, with loss causing Golgi fragmentation, vesicle dispersal, and depletion of Kif7 from cilia tips (PMID:20106869, PMID:28444310). In vivo, loss of RP2 mislocalizes cone opsins and phototransduction proteins and dysregulates cone outer-segment length, establishing its role in photoreceptor homeostasis and retinitis pigmentosa (PMID:23745007, PMID:26383048, PMID:26034134). Most disease-causing mutations destabilize RP2 and trigger its proteasomal degradation, while a subset of non-destabilizing missense changes (e.g., R118H, E138G) selectively disrupt partner interactions such as ARL3, NSF, or OSTF1 (PMID:20669900, PMID:28209709, PMID:29361551). Additional partners include polycystin-2, with which RP2 forms a calcium-sensitive complex at the primary cilium controlling polycystin-2 trafficking (PMID:20729296).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2000 High

    Established how RP2 reaches its site of action, showing that dual N-terminal acylation targets it to the plasma membrane and defining the motif required.

    Evidence Site-directed mutagenesis of acylation sites in RP2-GFP, confocal imaging, fractionation, and palmitate-analogue inhibition in CHO cells

    PMID:10942419 PMID:12037013

    Open questions at the time
    • Did not define a catalytic or signaling function beyond localization
    • R118H disrupts an unidentified function without affecting membrane targeting
  2. 2001 High

    Connected RP2 mutations to protein instability, showing C-terminal truncations misroute and degrade the protein despite intact mRNA.

    Evidence GFP-RP2 expression in HeLa/COS-7, microscopy, fractionation, Western blot and RT-PCR on patient cells

    PMID:11371510

    Open questions at the time
    • Degradation pathway not yet identified as proteasomal
    • Did not address missense mutations
  3. 2002 High

    Identified RP2's biochemical activities and its key partner, framing it as a tubulin-cofactor-C homologue that interacts with ARL3 nucleotide-dependently.

    Evidence In vitro GTPase stimulation with cofactor D, ARL3 binding assays, and immunolocalization in human retina and HeLa

    PMID:12417528

    Open questions at the time
    • GAP activity toward ARL3 not yet directly demonstrated
    • Functional significance of tubulin-GTPase stimulation in vivo unresolved
  4. 2003 Medium

    Refined RP2 membrane behavior, showing cholesterol-dependent but non-polarized association with lipid rafts.

    Evidence DRM fractionation, cholesterol depletion, and imaging in neuroblastoma and polarized epithelial cells

    PMID:12648035

    Open questions at the time
    • Functional consequence of raft association not established
    • Single-lab observation
  5. 2006 Medium

    Reported an unexpected nuclear exonuclease activity and DNA-damage-induced relocalization, an outlier role relative to the ciliary trafficking model.

    Evidence In vitro exonuclease and DNA-binding assays plus microscopy of RP2 relocalization after UVA/oxidative stress

    PMID:16457815

    Open questions at the time
    • Not independently replicated
    • Relationship to RP2's trafficking function unclear
    • No in vivo confirmation of DNA-repair role
  6. 2010 High

    Placed RP2 at the ciliary base and linked it functionally to ARL3 in Golgi-to-cilium vesicle trafficking.

    Evidence Photoreceptor immunolocalization plus siRNA depletion with Golgi morphology and IFT20 readouts

    PMID:20106869

    Open questions at the time
    • Direct cargo selectivity not defined
    • Mechanism linking GAP activity to Golgi cohesion unresolved
  7. 2010 High

    Expanded the RP2 interactome to NSF and polycystin-2, implicating RP2 in membrane protein trafficking and ciliopathy beyond the retina.

    Evidence MS proteomics, reciprocal Co-IP, domain mapping, and zebrafish/renal-cell knockdown with ciliary phenotypes

    PMID:20669900 PMID:20729296

    Open questions at the time
    • Functional role of NSF binding in trafficking not fully mechanistic
    • How calcium gates the polycystin-2 complex unresolved
  8. 2011 High

    Defined the trafficking cargo logic of the RP2-ARL3 cycle: RP2 chaperones Gβ1 transducin to membranes/vesicles, and ARL3-GTP-driven release delivers myristoylated cargo to cilia.

    Evidence GST pulldowns, competitive binding, siRNA in ARPE19, and structure-guided RNAi in C. elegans/mammalian cells for the UNC119-NPHP3 pathway

    PMID:22072390 PMID:22085962

    Open questions at the time
    • Full repertoire of physiological cargo not enumerated
    • Quantitative coupling between GAP cycle and cargo release in vivo unresolved
  9. 2013 High

    Demonstrated the in vivo retinal consequence of RP2 loss, identifying cone opsin mislocalization as an early disease step.

    Evidence Conditional knockout mice with ERG, histology, immunofluorescence, and electron microscopy

    PMID:23745007

    Open questions at the time
    • Mechanism linking RP2 loss to opsin mistrafficking not dissected
    • Trigger of subsequent degeneration unresolved
  10. 2014 High

    Validated RP2 trafficking functions in patient-derived cells and established therapeutic rescue via nonsense read-through.

    Evidence R120X patient iPSC-RPE with IFT20/Golgi/Gβ1 readouts, GFP-RP2 rescue, and read-through drugs (G418, PTC124)

    PMID:25292197

    Open questions at the time
    • Read-through efficiency limited to ~20% full-length protein
    • Long-term functional restoration not addressed
  11. 2015 High

    Distinguished cell-autonomous photoreceptor roles, showing RP2 negatively regulates cone outer-segment length and supports phototransduction protein localization.

    Evidence Cone- and rod-specific conditional knockout mice and TALEN zebrafish knockouts with EM, IF and Western analyses

    PMID:26034134 PMID:26383048

    Open questions at the time
    • Mechanism of microtubule/outer-segment length control unresolved
    • Cone-specific vs rod-specific molecular basis not fully explained
  12. 2016 Low

    Modeled the catalytic chemistry of ARL3 GTP hydrolysis by the RP2 complex and how E138G impairs it.

    Evidence QM/MM energy calculations on the Arl3-RP2 crystal structure with kinetic simulations

    PMID:27043216 PMID:34208932

    Open questions at the time
    • Computational only, no direct in vitro enzymatic validation reported
    • Predicted catalytic role of Gln71 not experimentally confirmed here
  13. 2017 High

    Linked RP2/ARL3 to ciliary-tip kinesin regulation and provided a unifying mutation-mechanism framework (destabilization vs interaction-disrupting).

    Evidence Co-IP, siRNA, patient fibroblast/iPSC optic cup imaging, plus systematic analysis of >70 mutations with MG132 and zebrafish validation

    PMID:28209709 PMID:28444310

    Open questions at the time
    • Direct GAP-vs-scaffold contribution to kinesin positioning unresolved
    • Functional reading of each interaction-disrupting allele incomplete
  14. 2018 High

    Defined a structurally distinct OSTF1-binding interface and a non-ciliary role for RP2 in promoting cell motility.

    Evidence Structure-based mutagenesis, Co-IP, membrane recruitment and in vitro motility assays

    PMID:29361551

    Open questions at the time
    • Physiological relevance of motility role in tissues unresolved
    • Relationship to ARL3/ciliary functions unclear
  15. 2023 Medium

    Positioned RP2 within a redundant module (with WDR31 and ELMOD) controlling IFT assembly and BBSome recruitment at the ciliary base.

    Evidence Triple-mutant genetic epistasis in C. elegans, zebrafish morpholino knockdown, and live IFT particle tracking

    PMID:37208194

    Open questions at the time
    • Molecular basis of redundancy with ELMOD/WDR31 not defined
    • Direct biochemical interplay among the three factors unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the RP2-ARL3 GAP cycle is spatiotemporally coordinated with cargo selection and the full set of physiological cargoes delivered to cilia remains open.
  • Complete cargo repertoire beyond Gβ1/NPHP3 unknown
  • Reconciliation of nuclear exonuclease activity with the trafficking model unresolved
  • In vivo significance of OSTF1-mediated motility role uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 3 GO:0008092 cytoskeletal protein binding 1 GO:0008289 lipid binding 1
Localization
GO:0005886 plasma membrane 3 GO:0005929 cilium 3 GO:0005794 Golgi apparatus 2 GO:0005815 microtubule organizing center 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 4 R-HSA-1643685 Disease 3 R-HSA-1852241 Organelle biogenesis and maintenance 2 R-HSA-9609507 Protein localization 2
Partners
ARL3GNB1KIF17KIF7NSFOSTF1PKD2UNC119B

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2000 RP2 protein is targeted to the plasma membrane via dual N-terminal acylation (myristoylation at Gly2 and palmitoylation at Cys3). The N-terminal Met-Gly-Cys-X-Phe-Ser-Lys motif is necessary and sufficient for plasma membrane localization. Mutations disrupting this motif (e.g., DeltaS6) prevent plasma membrane targeting, whereas R118H does not affect plasma membrane localization but disrupts another functional aspect of RP2. Mutagenesis of N-terminal acylation sites in RP2-GFP chimeras, confocal microscopy, subcellular fractionation, palmitate analogue inhibition in CHO cells Human molecular genetics High 10942419 12037013
2002 RP2 protein stimulates the GTPase activity of tubulin in combination with cofactor D, functioning as a homologue of tubulin-specific chaperone cofactor C. RP2 also interacts with ADP-ribosylation factor-like 3 (Arl3) in a nucleotide- and myristoylation-dependent manner. In human retina, RP2 localizes to the plasma membrane of photoreceptors throughout all compartments (outer segment through synaptic terminals), while Arl3 localizes predominantly to the connecting cilium and co-purifies with microtubules. In vitro GTPase stimulation assay, immunofluorescence localization in human retina and HeLa cells, microtubule co-sedimentation (bovine brain), taxol stabilization/nocodazole depolymerization experiments Human molecular genetics High 12417528
2003 RP2 associates with detergent-resistant membranes (lipid rafts) in a cholesterol-dependent manner in neuroblastoma cells, though to a lesser extent than other dually acylated proteins. RP2 is present in both apical and basolateral domains of polarized epithelial cells and is not sorted to a specific domain, unlike some other dually acylated proteins. The Arl3-interacting protein is not found in DRMs. Detergent-resistant membrane fractionation, cholesterol depletion, immunofluorescence in polarized epithelial cells in vitro and in vivo The Biochemical journal Medium 12648035
2006 RP2 exhibits 3'-to-5' exonuclease activity with preference for single-stranded or nicked DNA substrates that are intermediates of base excision repair. Upon DNA damage (UVA, solar-simulated light inducing oxidative stress), RP2 translocates from the plasma membrane to the nucleus. In vitro exonuclease assay, DNA binding assay, fluorescence microscopy of RP2 relocalization after DNA damaging agent treatment Experimental cell research Medium 16457815
2010 RP2 localizes to the basal body and associated centriole (ciliary base) of photoreceptors via N-terminal myristoylation. RP2 also localizes to the Golgi and periciliary ridge. Loss of RP2 (siRNA depletion) causes fragmentation of the Golgi network and dispersal of vesicles cycling IFT20 cargo from the Golgi to the cilium, similar to effects seen with Arl3 depletion or expression of constitutively active Arl3-Q71L. Immunofluorescence localization in photoreceptors, siRNA knockdown of RP2 and Kif3a/Arl3, confocal microscopy of Golgi morphology and IFT20 distribution Human molecular genetics High 20106869
2010 RP2 interacts with N-ethylmaleimide sensitive factor (NSF) in retinal cells and HEK293 cells; the interaction is mediated by the N-terminal domain of NSF. Disease-causing RP2 mutations E138G and DeltaI137 abolish the RP2–NSF interaction. RP2 co-localizes with NSF in photoreceptors, with intense punctate staining near the inner/outer segment junction beneath the connecting cilium and in synaptic regions. Mass spectrometry-based proteomics from retinal lysates, co-immunoprecipitation, domain mapping with N-terminal NSF fragment, immunofluorescence co-localization in retina Biochemistry High 20669900
2010 RP2 forms a calcium-sensitive complex with the polycystic kidney disease protein polycystin-2 in renal epithelia. RP2 localizes to the primary cilium via dual acylation in these cells. Ablation of RP2 by shRNA promotes swelling of the cilia tip associated with aberrant trafficking of polycystin-2. Morpholino-mediated knockdown of RP2 in zebrafish causes ciliopathy-related developmental defects (hydrocephalus, kidney cysts, situs inversus); dual knockdown of RP2 and polycystin-2 enhances situs inversus. shRNA knockdown in renal epithelial cells, co-immunoprecipitation, immunofluorescence, morpholino knockdown in zebrafish with phenotypic analysis Human molecular genetics High 20729296
2011 RP2 facilitates membrane association and trafficking of the Gβ1 subunit of transducin. GST-RP2 pulls down Gβ1 (but not Gβ3 or Gβ5L) from retinal lysates. Gγ1 competes with RP2 for Gβ1 binding. RP2 does not interact with the Gβ:Gγ heterodimer. Overexpressed RP2 rescues cytoplasmic accumulation of Gβ1 and promotes its membrane association. RP2 siRNA in ARPE19 cells reduces Gβ1 membrane association. Arl3-Q71L (active) competes with Gβ1 for RP2 binding, suggesting Arl3-GTP would release Gβ1. RP2 also stimulates association of Gβ1 with Rab11 vesicles. The interaction requires RP2 N-terminal myristoylation and the TBCC homology domain, and is disrupted by pathogenic mutation R118H. GST pulldown from retinal lysates, co-expression rescue experiments, siRNA knockdown in ARPE19 cells, immunofluorescence Human molecular genetics High 22072390
2011 ARL3-GTP serves to release myristoylated cargo (NPHP3) from UNC119. The ARL3 GAP RP2 is required for NPHP3 ciliary targeting in a GTPase cycle that delivers myristoylated proteins to the ciliary membrane. UNC119b (but not UNC119a) and RP2 are specifically required for this pathway. Proteomic identification of UNC119-NPHP3 interaction, structural modeling with directed mutants, RNAi knockdown in C. elegans and mammalian cells, myristoylation-dependent binding assays Genes & development High 22085962
2013 Ablation of Rp2 in mice results in mislocalization of cone opsins to nuclear and synaptic layers and reduced rhodopsin content in the outer segment prior to onset of photoreceptor degeneration. Cone opsin mislocalization represents an early step in RP2-associated disease. Conditional knockout mice (loxP-flanked exon 2, CAG-Cre), ERG, histology, immunofluorescence microscopy, electron microscopy Investigative ophthalmology & visual science High 23745007
2014 RP2 protein is required for correct localization of IFT20 and Golgi cohesion in RPE cells. Loss of RP2 (R120X patient iPSC-derived RPE) causes IFT20 mislocalization and Gβ1 trafficking defects. Overexpression of GFP-RP2 corrects these phenotypes. Translational read-through of the R120X nonsense mutation restores up to 20% full-length RP2 protein, sufficient to rescue IFT20 localization, Golgi cohesion, and Gβ1 trafficking defects. iPSC reprogramming, RPE differentiation, immunofluorescence for IFT20/Golgi/Gβ1, GFP-RP2 rescue, translational read-through drugs (G418, PTC124) Human molecular genetics High 25292197
2015 Loss of RP2 specifically in cones (cone-specific Rp2 knockout) results in abnormal elongation of the cone outer segment (COS) with disorganized lamellae and elongation of the microtubule cytoskeleton, but this phenotype is not seen when Rp2 is ablated only in rods. RP2 is thus a negative regulator of cone outer segment length in a cone cell-autonomous manner. Conditional knockout mice (cone-specific and rod-specific Cre drivers), electron microscopy, immunofluorescence, morphometric analysis of outer segment length Cytoskeleton (Hoboken, N.J.) High 26383048
2015 RP2 knockout in zebrafish leads to decreased protein levels and abnormal retinal localization of GRK1 and rod transducin subunits (GNAT1 and GNB1). Distribution of total farnesylated proteins in the zebrafish retina is also affected by RP2 ablation. TALEN-mediated RP2 knockout zebrafish, immunofluorescence, Western blot, histology Human molecular genetics Medium 26034134
2017 RP2 and Arl3 interact with ciliary tip kinesins Kif17 and Kif7. RP2 mediates localization of Kif17 to the cilia tip and competitively binds Kif17 with Arl3. siRNA loss of RP2 or Arl3 reduces Kif7 levels at cilia tips. Reduced Kif7 at cilia tips is confirmed in fibroblasts and iPSC optic cups from RP2-null (R120X) patients. Translational read-through drugs restore Kif7 levels at the ciliary tip of RP2-null cells. Co-immunoprecipitation, siRNA knockdown, immunofluorescence in fibroblasts and iPSC-derived optic cups, translational read-through drug treatment Human molecular genetics High 28444310
2017 Most pathogenic RP2 mutations (missense, single-residue deletion, C-terminal truncation) destabilize the RP2 protein, leading to proteasomal degradation and dramatically decreased protein levels. A subset of non-destabilizing mutations (T87I, R118H/G/L/C, E138G, R211H/L) are predicted to impair interaction with protein partners such as ARL3 rather than affecting protein stability. Equivalent 12-bp deletion in zebrafish rp2 produces near-undetectable protein despite normal mRNA, confirming post-translational destabilization. In silico stability prediction, in vitro expression assays in cell lines, proteasome inhibitor treatment (MG132), zebrafish rp2 mutant model, Western blot, qRT-PCR The Journal of biological chemistry High 28209709
2018 RP2 interacts with osteoclast-stimulating factor 1 (OSTF1) via a conserved cluster of residues on the surface of RP2 spanning both C- and N-terminal domains, structurally distinct from the ARL3-binding site. This interaction is abolished by a pathogenic RP2 mutation. RP2 acts as a positive regulator of cell motility by recruiting OSTF1 to the cell membrane and preventing OSTF1 interaction with the migration regulator Myo1E. Co-immunoprecipitation, structure-based mutagenesis, cell motility assays in vitro, membrane recruitment experiments Journal of cell science High 29361551
2016 Computational QM/MM modeling of the Arl3-RP2 complex reveals the mechanism of GTP hydrolysis: the catalytic glutamine (Gln71 in Arl3) actively participates in the reaction. The Arl3-RP2 complex has two parts: Pγ-Oβγ bond cleavage/Pi formation, and enzyme regeneration. The RP2 mutation E138G slows hydrolysis by altering the active site. QM/MM potential energy calculations using crystal structure of Arl3-RP2 complex with substrate analog, kinetic curve simulations The journal of physical chemistry. B Low 27043216 34208932
2023 WDR31 displays functional redundancy with RP2 and ELMOD in regulating IFT complex assembly at the ciliary base and BBSome recruitment to the cilium. Triple loss of WDR-31, RP-2, and ELMD-1 in C. elegans causes ciliary accumulation of IFT Complex B components and KIF17 kinesin, altered IFT particle trafficking speeds, and leakage of a non-ciliary protein into cilia. Genetic epistasis in C. elegans (triple mutants), zebrafish morpholino knockdown, IFT particle tracking by live imaging, immunofluorescence Life science alliance Medium 37208194
2001 C-terminal protein truncation mutations in RP2 cause intracellular misrouting of the protein to scattered cytoplasmic foci, whereas wild-type RP2 is soluble and plasma membrane-associated. Truncated RP2 proteins accumulate in a low-speed centrifugation pellet. No RP2 protein is detected in patient cell lines carrying truncation mutations despite presence of mRNA, suggesting protein instability/degradation. GFP-tagged RP2 expression in HeLa/COS-7 cells, fluorescence microscopy, subcellular fractionation, Western blot on patient cell lines, RT-PCR Human molecular genetics High 11371510

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
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 217 11992260
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 190 22085962
2020 Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids. Stem cell reports 144 32531192
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 115 16969763
2010 The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Human molecular genetics 114 20106869
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 109 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
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
2010 RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 65 20625056
2010 The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Human molecular genetics 58 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
2017 Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. Human molecular genetics 53 28444310
1995 The miti-mere and pdm1 genes collaborate during specification of the RP2/sib lineage in Drosophila neurogenesis. Molecular and cellular biology 53 7623801
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
2012 Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. Vision research 46 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
2015 Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Human molecular genetics 40 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
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 36 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
2016 Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. Biochemical Society transactions 31 27911705
2010 Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells. Biochemistry 31 20669900
2011 Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. Investigative ophthalmology & visual science 30 21282572
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
2011 Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. PloS one 25 21738648
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
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
2009 Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Investigative ophthalmology & visual science 21 19516003
1991 Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. Journal of medical genetics 21 1895315
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
2009 RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa? Expert opinion on therapeutic targets 19 19702441
1999 Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections. Human immunology 19 10439316
2022 RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. Ophthalmology 18 36423731
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
1987 Evolution of steroid-inducible RP2 mRNA expression in the mouse kidney. Genetics 17 3623081
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
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
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 6 37208194
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
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
2023 A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report. Iranian journal of medical sciences 0 38094283
2000 Cloning, Sequencing and Preliminary Expression of Human RP2 Gene. Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica 0 12098802

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