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FLASH GENE
Symbol CRYBB2 contributors: shn/npt - updated : 22-05-2012
HGNC name crystallin, beta B2
HGNC id 2398
Corresponding disease
CCA2 cataract, congenital, cerulean, type 2
Location 22q11.23      Physical location : 25.615.611 - 25.627.836
Synonym name
  • eye lens structural protein
  • beta-crystallin Bp
  • crystallin beta-2
  • cataract autosomal dominant multiple types uncluded
  • CRYBB2P1 included
  • Synonym symbol(s) CRYB2A, CRYB2, D22S665
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text
  • clustered with beta-A4, beta-B1 and beta-B3 (see CRYBalpha)
  • oriented head-to-tail with respect to transcription with CRYBB3
  • STRUCTURE 12.23 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D22S1685 - D22S1174 - CRYBB2 - D22S925 - D22S926 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 781 23 205 - Chamber et al, 1993
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  moderately Mus musculusAdult
    Visualeyelens  specific Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatogonia Mus musculusAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, lens
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • an ABAB pattern structural motif, characteristic of the beta-gamma crystallin superfamily
  • four beta/gamma crystallin 'greek key' domains linked by a connecting peptide and N- and C-terminal extensions
  • 16 beta-strands, 8 in the N-terminal domain and 8 in the C-terminal domain
  • conjugated Other
    mono polymer homomer , heteromer , dimer , oligo
    HOMOLOGY
    interspecies ortholog to crybb2, Danio rerio
    ortholog to Crybb2, Mus musculus
    ortholog to crybb2, Danio rerio
    Homologene
    FAMILY
  • beta/gamma-crystallin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text cell shape and cell size control
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • homo/heterodimer or complexes of higher order
  • the structure of beta-crystallin oligomers sems to be stabilized through interactions between the N-terminal arms
  • being the dominant structural component of the vertebrate eye lens
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • alphaA-, and alphaB- crystallins, and Hsp27 (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CCA2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • decreased levels of Camk4 in the testis is a contributing factor to reduced fertility in male Crybb2-/- mice (