ZFIN ID: ZDB-GENE-081015-2
Gene Name: retinitis pigmentosa GTPase regulator b
Gene Symbol: rpgrb    Nomenclature History

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Previous Name: rpgr2 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 11 Mapping Details/Browsers
Description: Involved in cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and retina morphogenesis in camera-type eye. Is expressed in several structures, including heart; liver; neural tube; optic cup; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in X-linked cone-rod dystrophy 1; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator).
Genome Resources: Alliance (1),  Gene:557752 (1),  Ensembl(GRCz11):ENSDARG00000057074 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa21936 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-rpgrb N/A 2
    MO2-rpgrb N/A 1
    DISEASE ASSOCIATED WITH rpgrb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    retinitis pigmentosa 3 Alliance Retinitis pigmentosa 3 300029
    X-linked cone-rod dystrophy 1 Alliance Cone-rod dystrophy, X-linked, 1 304020
    Macular degeneration, X-linked atrophic 300834
    Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455
    DISEASE ASSOCIATED WITH rpgrb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process retinal rod cell development (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA rpgrb-201 (1)    Ensembl 4258
    rpgrb-202 (1)    Ensembl 2628
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-rpgr polyclonal IgG Rabbit IHC Atlas Antibodies AB
    3
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM rpgrb No data available
    MARKER RELATIONSHIPS
    rpgrb Contained in: [BAC] CH211-79O8 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001312676 (1)
    Genomic GenBank:CR450831 (1) 190163 nt
    Select Tool
    Polypeptide UniProtKB:D2X899 (1) 1413 aa
    Sequence Information (all 15)
    ORTHOLOGY for rpgrb ( Chr: 11 )
    CITATIONS (18)