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FLASH GENE
Symbol CRYBA4 contributors: mct - updated : 09-04-2019
HGNC name crystallin, beta A4
HGNC id 2396
Corresponding disease
CATM2 cataract with associated microphthalmia 2
Location 22q12.1      Physical location : 27.017.927 - 27.026.635
Synonym name
  • beta crystallin A4 chain transcript PS
  • crystallin, beta polypeptide A4
  • eye lens structural protein
  • Synonym symbol(s) CTA-445C9.1, CTRCT23, CYRBA4, MCOPCT4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with beta-B1, beta-B2 and beta-B3
    STRUCTURE 22.70 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 828 - 196 - 2015 25910212
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyelens    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal eye, lens
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two ABAB pattern, structural motif characteristic of the beta-gamma crystallin superfamily
  • four beta/gamma crystallin greek key motifs
  • conjugated Other
    mono polymer homomer , heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Cryba4
    homolog to C.elegans Y47D3B.4
    Homologene
    FAMILY
  • crystallin superfamily, beta acidic group member
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • lens crystallin genes, CRYBA4 and CRYBB1, can be simultaneously transcribed from adjacent bidirectional promoters and do not show nuclear accumulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • homo/heterodimer or complexes of higher order
  • structure of oligomers stabilized through interactions between the N-terminal arms
  • being the dominant structural component of the vertebrate eye lens
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CATM2
    Susceptibility to high myopia
    Variant & Polymorphism other
  • rs2009066, was previously reported to be associated with high myopia in a southern Chinese population
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS