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FLASH GENE
Symbol CRYGD contributors: mct/shn - updated : 04-12-2011
HGNC name crystallin, gamma D
HGNC id 2411
Corresponding disease
CACA congenital crystalline cataract, aculeiform type
CCA3 cataract, congenital, cerulean type 3
CCC cataract, crystalline, coralliform
Location 2q33.3      Physical location : 208.986.331 - 208.989.313
Synonym name
  • gamma crystallin 4
  • gamma-crystallin 4
  • gamma-D-crystallin
  • gamma-crystallin D
  • Synonym symbol(s) CRYG4, cry-g-D, CCP
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    text four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster
    STRUCTURE 2.98 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D2S2208 - D2S154 - CRYGD - D2S2178 - D2S2274 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 724 20.61 174 - 1996 8983941
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an ABAB pattern,structural motif characteristic of the beta-gamma crystallin superfamily
  • a two-domain beta-structure, folded into four very similar greek key motifs
  • two highly homologous beta-sheet domains which interact
  • through interdomain side chain contacts forming two structurally distinct regions, a central hydrophobic cluster and peripheral AAs )
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to Crygd, Mus musculus
    ortholog to Crygd, Rattus norvegicus
    ortholog to CRYGD, Pan troglodytes
    Homologene
    FAMILY
  • crystallin superfamily
  • beta/gamma-crystallin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • monomeric eye lens protein, with hydrophobic domain interface interactions contibuting to its folding and stability
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text cell shape and cell size control
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • structural components of the lens
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CACA , CCA3 , CCC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • a G to A transition was found in exon 3 of Crygd associated with the Lens opacity 12 (Lop12) mutation resulting in lens opacity (