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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CRYBB2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1415
Official gene symbolCRYBB2
Full namecrystallin, beta B2
Aliases,CCA2,CRYB2,CRYB2A,D22S665,
Gene summaryCrystallins 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. [provided by RefSeq]
LocationChromosome: 22   Locus: 22q11.2-q12.1|22q11.
Gene position25615612 - 25627836  Map Viewer
Gene orientationplus
Gene size12225 bp
Gene sequence
OMIM ID123620