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    RP2 RP2, ARL3 GTPase activating protein [ Homo sapiens (human) ]

    Gene ID: 6102, updated on 6-Jun-2017
    Official Symbol
    RP2provided by HGNC
    Official Full Name
    RP2, ARL3 GTPase activating proteinprovided by HGNC
    Primary source
    HGNC:HGNC:10274
    See related
    Ensembl:ENSG00000102218 MIM:300757; Vega:OTTHUMG00000021430
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XRP2; NME10; TBCCD2; NM23-H10; DELXp11.3
    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]
    Orthologs
    Location:
    Xp11.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (46836912..46882358)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46696347..46741793)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member A7 Neighboring gene Y-box binding protein 1 pseudogene 8 Neighboring gene charged multivesicular body protein 5 pseudogene Neighboring gene long intergenic non-protein coding RNA 1545 Neighboring gene jade family PHD finger 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Retinitis pigmentosa 2 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-10-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

    ClinGen Genome Curation PagePubMed
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Trafficking of myristoylated proteins to the cilium, organism-specific biosystem (from REACTOME)
      Trafficking of myristoylated proteins to the cilium, organism-specific biosystemA number of myristoylated proteins have been shown to traffic to the cilium in a myristoyl- and UNC119B:ARL3:RP2-dependent fashion. These include the ciliary proteins Nephrocystin 3 (NPHP3) and Cyst...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0215

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    unfolded protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    post-Golgi vesicle-mediated transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    post-Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT post-chaperonin tubulin folding pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    centriole IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium TAS
    Traceable Author Statement
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    periciliary membrane compartment IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein XRP2
    Names
    retinitis pigmentosa 2 (X-linked recessive)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009107.1 RefSeqGene

      Range
      5001..50447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006915.2NP_008846.2  protein XRP2

      See identical proteins and their annotated locations for NP_008846.2

      Status: REVIEWED

      Source sequence(s)
      AL627143, BC053530, DA211161
      Consensus CDS
      CCDS14270.1
      UniProtKB/Swiss-Prot
      O75695
      UniProtKB/TrEMBL
      A0A1B2JLU2
      Related
      ENSP00000218340.3, OTTHUMP00000023189, ENST00000218340.3, OTTHUMT00000056375
      Conserved Domains (2) summary
      cl00335
      Location:252308
      NDPk; Nucleoside diphosphate kinases (NDP kinases, NDPks): NDP kinases, responsible for the synthesis of nucleoside triphosphates (NTPs), are involved in numerous regulatory processes associated with proliferation, development, and differentiation. They are ...
      pfam07986
      Location:59177
      TBCC; Tubulin binding cofactor C

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      46836912..46882358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      46728434..46773905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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