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FLASH GENE
Symbol RP2 contributors: npt/mct/shn/pgu - updated : 25-08-2017
HGNC name retinitis pigmentosa 2 (X-linked recessive)
HGNC id 10274
DNA
TYPE functioning gene
STRUCTURE 45.44 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - DXS1055 -DXS1003 - RP2 RP2 - DXS1208 - DXS1039 - cen
Authors PMID: 9697692
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3831 39.51 350 - 2010 20729296
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunelymph node   highly
Respiratoryrespiratory tracttrachea  highly
Urinarykidney     Homo sapiens
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Epithelialabsorptive excretoryrenal tubular epithelium   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • N acylation site at N terminus (involved in ultimate step of tubulin folding), and N-terminal domain sharing amino acid sequence similarity to the tubulin-specific chaperone protein co-factor C
  • a MAP homology domain
  • a NM23 homologous domain
  • a strech of 40 hydrophobic AA
  • a homology domain of 151 amino acids to TBCC, which binds ARL3, and the GAP critical arginine finger residue R118 appear to be important for GNB1 binding
  • C-terminus consists of a domain with similarity to nucleoside diphosphate kinases (NDKs)
  • HOMOLOGY
    interspecies ortholog to rp2, Danio rerio
    ortholog to RP2, Pan troglodytes
    ortholog to Rp2, Rattus norvegicus
    ortholog to Rp2, Mus musculus
    intraspecies homolog to cofactor C
    Homologene
    FAMILY
  • TBCC family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • localized to plasma membranes via N-terminal myristoyl and palmitoyl anchors (myristoylation is required to target RP2 to the basal body, whereas palmitoylation, the interaction of RP2 with ARL3 and the C-terminal domain of RP2 were not essential)
  • localizes to the ciliary apparatus, namely the basal body and the associated centriole at the base of the photoreceptor cilium
  • in renal epithelia, RP2 localizes to the primary cilium
  • basic FUNCTION
  • involved in beta-tubulin folding
  • stimulates the GTPase activity of tubulin, but does not enhance tubulin heterodimerization
  • acting as guanine nucleotide dissociation inhibitor for ARL3
  • DNA-binding protein that exhibits exonuclease activity, with a preference for single-stranded or nicked DNA substrates that occur as intermediates of base excision repair pathways
  • may have previously unrecognized roles as a DNA damage response factor and 3' to 5' exonuclease
  • may play a role in regulating vesicle traffic and docking
  • playing a role in pericentriolar vesicle trafficking and intraflagellar transport
  • RP2/NSF complex may play an important role in membrane protein trafficking in photoreceptors and other cells of the retina
  • may be an important regulator of ciliary function through its association with polycystin 2 (
  • essential for ciliary function during vertebrate development (
  • RP2 and PKD2 function in a common developmental process (
  • could have a role in the photoreceptor machinery to reduce the stress caused by free GNB1, by sequestering free GNB1 and facilitating the assembly and membrane association of the GNB1:GNG1 heterodimer
  • RP2 and ARL3 regulate the trafficking of specific kinesins to cilia tips
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component RP2 forms a calcium-sensitive complex with polycystin 2 (
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • ARL3 (to link the cell membrane with the cytoskeleton in photoreceptors)and TBCC, binds the GTP-bound but not the GDP-bound form of ARL3 with high affinities
  • RP2 regulation of ARL3 is important for maintaining Golgi cohesion, facilitating the transport and docking of vesicles and thereby carrying proteins to the base of the photoreceptor connecting cilium for transport to the outer segment
  • N-ethylmaleimide sensitive factor, NSF
  • interacts with PKD2 and regulates ciliary trafficking of the product of the polycystic kidney disease 2 (PKD2) gene, polycystin 2
  • transportin 1, TNPO1
  • may co-operate with ARL3 and its effectors in the cilia-associated traffic of G proteins
  • GNB1 is a novel RP2 interaction partner (RP2 specifically binds GNB1 and facilitates membrane association)
  • ciliary tip kinesins KIF7 and KIF17 are novel interaction partners of the small GTPase ARL3 and its regulatory GTPase activating protein (GAP) Retinitis Pigmentosa 2 (RP2)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP2
    related resource Retinal Information Network
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    Xp11.3 microdeletion with association of RP and mental retardation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS