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ZIRC
ZFIN ID: ZDB-GENE-081015-2
Gene Name: retinitis pigmentosa GTPase regulator b
Gene Symbol: rpgrb
Sequence Ontology ID : SO:0000704

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Previous Name: rpgr2 (1)

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(Including Attributions)
Location: Chr: 11 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and eye morphogenesis. Human ortholog(s) of this gene implicated in X-linked cone-rod  ...
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)
  • Targeting reagents:
    DISEASE ASSOCIATED WITH rpgrb HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    retinitis pigmentosa 3 Retinitis pigmentosa 3 300029
    X-linked cone-rod dystrophy 1 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
  • InterPro:IPR000408 (1)
  • InterPro:IPR009091 (1)
  • PROSITE:PS00626 (1)
  • PROSITE:PS50012 (1)
  • Pfam:PF00415 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA rpgrb-201 (1) 4258
    rpgrb-202 (1) 2628
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM rpgrb No data available
    MARKER RELATIONSHIPS
    rpgrbContained in: [BAC] CH211-79O8 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001312676 (1)
    Genomic GenBank:CR450831 (1) 190163bp
    Select Tool
    Polypeptide UniProtKB:D2X899 (1) 1413aa
    Sequence Clusters UniGene:100975 (1)
    Sequence Information (all 16)
    ORTHOLOGY for rpgrb (Chr: 11)
    CITATIONS (17)