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FLASH GENE
Symbol CRYBB3 contributors: mct - updated : 26-10-2018
HGNC name crystallin, beta B3
HGNC id 2400
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem, component of a cluster
text
  • clustered with beta-A4,beta-B1 and beta-B2 (see CRYB@)
  • oriented head-to-tail with respect to transcription with CRYBB2
  • STRUCTURE 13.37 kb     6 Exon(s)    2 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    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)
    regionally located separated from CRYBB2 by 20 kb in the human
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 896 24 211 - 1997 8999933
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyelens  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningcorneal epithelium   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two ABAB pattern, structural motif characterisitc of the beta-gamma crystallin superfamily
  • four greek key motifs
  • mono polymer homomer , heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Crybb3
    homolog to C.elegans Y71H2AM.J
    Homologene
    FAMILY
  • crystallin superfamily
  • beta/gamma-crystallin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • is one of 11 major soluble proteins in the young human lens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    photoreception
    a component
  • homo/heterodimer or complexes of higher order
  • structure of the beta-crystallin oligomers stabilized through interactions between the N-terminal arms
  • being the dominant structural components of the vertebrate eye lens
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    G165R in 2 pakistani families with autosomal recessive congenital nuclear cataract (Riazuddin,05)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS