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FLASH GENE
Symbol CRB2 contributors: mct - updated : 29-05-2014
HGNC name crumbs homolog 2 (Drosophila)
HGNC id 18688
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 15 extracellular EGF-like domains and 3 extracellular laminin G-like domains, and tenth EGF-like domain might play an important role in CRB2 function in podocytes
  • the Crb cytoplasmic tail domain, CCT domain, functioning as the binding site for PDZ domain of Sdt homologs
  • a short 37 AAs intracellular C-terminus containing single-FERM and -PDZ protein-binding motifs, and a BRCT domain
    • HOMOLOGY
    intraspecies homolog to CRB1
    Homologene
    FAMILY
  • Crumbs protein family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • may play a role during CNS development
  • functions potentially as an inhibitory binding protein that is involved in the formation of a mature but inactive pool of the gamma-secretase complex
  • essential for survival and differentiation of ESC-derived neural progenitors
  • essential role for CRB2 in proper lamination of the photoreceptor layer and suppression of proliferation of late-born retinal progenitor cells
  • potential role for CRB2 in suppressing proliferation of late retinal progenitors
  • plays important roles in maintaining the adhesion, structural integrity, cell polarity, photoreceptor lamination, as well as controlling the differentiation of appropriate numbers of Müller glia cells
  • inhibits retinal progenitor proliferation in the late developing retina
  • CRB1 and CRB2 suppress late progenitor pool expansion by regulating multiple proliferative signaling pathways
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding of the CRB2 BRCT repeats to H2AFX is critical for checkpoint activity and provide new insight into the mechanisms of chromatin-mediated genome stability
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRN5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in cerebral, renal, and cardiac malformations (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Crb2 in the murine retina results in early retinal disorganization leading to severe and progressive retinal degeneration with a concomitant visual loss that mimics retinitis pigmentosa due to mutations in the CRB1 gene
  • severe abnormalities appearing in Crb2-deficient mice embryos at late-gastrulation