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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
    Physical map
    HS322B1A 22q12 hypothetical protein HS322B1A LOC391322 22 similar to D-dopachrome tautomerase (Phenylpyruvate tautomerase II) GSTT1 22q11.23 glutathione S-transferase theta 1 LOC343854 22q11.23 similar to RIKEN cDNA 4930583C14 CABIN1 22q11.2-q12.3 similar to RIKEN cDNA 4930583C14 BK65A6.2 GGTLA1 22q11.2 gamma-glutamyltransferase-like activity 1 LOC339661 22q11.23 similar to Gamma-glutamyltransferase-like protein 4 DKFZP434P211 22q11.22 POM121-like protein LOC388885 22 LOC388885 KIAA0376 22q11.2-q12.3 LOC388885 ADORA2A 22q11.22 adenosine A2a receptor UPB1 22q11.2 ureidopropionase, beta MGC1842 22q11.2 hypothetical protein MGC1842 SNRPD3 22q11.21 small nuclear ribonucleoprotein D3 polypeptide 18kDa GGT1 22q11.23 gamma-glutamyltransferase 1 LOC388886 22 similar to hypothetical protein LOC192734 LOC343855 22q11.23 similar to POM121 membrane glycoprotein-like 1 LOC391323 22 similar to actin-related protein 2 LOC388887 22 LOC388887 BCRL6 22q11.22 breakpoint cluster region-like 6 TOP1P2 22q11.2-q13.1 topoisomerase (DNA) I pseudogene 2 KIAA1941 22q11.23 KIAA1941 protein LOC255349 22q11.23 hypothetical LOC255349 KIAA1671  KIAA1671 protein CRYBB3 22q11.23 crystallin, beta B3 CRYBB2 22q11.23 crystallin, beta B2 LOC91353 22q11.23 similar to omega protein DKFZp434O0213 22q11.23 hypothetical protein DKFZp434O0213 CRYBB2P1 22q11.23 crystallin, beta B2 pseudogene 1 ADRBK2 22q11.22 adrenergic, beta, receptor kinase 2 YESP 22q11-q12 v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene MYO18B 22q11.2-q12.1 myosin XVIIIB SEZ6L 22q11.21-q12.2 seizure related 6 homolog (mouse)-like FLJ38343 22q12.1 hypothetical protein FLJ38343 LOC391324 22 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC57168 22q12.1 similar to aspartate beta hydroxylase (ASPH)
    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 (