Gene: CRYBB2

Alternate names for this Gene: CCA2|CRYB2|CRYB2A|CTRCT3|D22S665

Gene Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23

Description of this Gene: crystallin beta B2

Type of Gene: protein-coding

rs2267078 in CRYBB2 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs886041410 in CRYBB2 gene and Cataract, Congenital, Cerulean Type, 2 PMID 24120835 2014 The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly.

PMID 24704203 2014 Cataract-linked mutation R188H promotes βB2-crystallin aggregation and fibrillization during acid denaturation.

rs147344332 in CRYBB2 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.