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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. [provided by RefSeq, Jul 2008]
CRYBB2 (Crystallin Beta B2) is a Protein Coding gene. Diseases associated with CRYBB2 include Cataract 3, Multiple Types and Cerulean Cataract. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and structural molecule activity. An important paralog of this gene is CRYBB3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | NAS | 8224918 |
GO:0005212 | structural constituent of eye lens | IBA | 21873635 |
GO:0042802 | identical protein binding | IPI | 16319073 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002088 | lens development in camera-type eye | IBA | 21873635 |
GO:0007601 | visual perception | IBA | 21873635 |
GO:0043010 | camera-type eye development | IEA | -- |
GO:0050896 | response to stimulus | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CRYBB2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CRYBB2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CRYBB2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CRYBB2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Crybb2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Crybb2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CRYBB2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CRYBB2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | crybb2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17581 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | crybb2 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2640 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
667923 | Benign: Cataract 3, multiple types; not provided | 25,221,469(+) | T/A | MISSENSE_VARIANT | |
729477 | Likely Benign: not provided | 25,227,958(+) | C/T | SYNONYMOUS_VARIANT | |
849925 | Uncertain Significance: Cataract 3, multiple types | 25,227,860(+) | G/A | MISSENSE_VARIANT | |
863971 | Uncertain Significance: Cataract 3, multiple types | 25,224,942(+) | T/G | MISSENSE_VARIANT | |
rs146763276 | Uncertain Significance: Cataract 3, multiple types | 25,227,921(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv175e55 | CNV | gain | 17911159 |
dgv24e196 | CNV | duplication | 17116639 |
dgv575n27 | CNV | loss | 19166990 |
dgv576n27 | CNV | gain | 19166990 |
dgv731e201 | CNV | deletion | 23290073 |
dgv8071n54 | CNV | gain | 21841781 |
esv23681 | CNV | gain+loss | 19812545 |
esv2758829 | CNV | gain+loss | 17122850 |
esv3575452 | CNV | gain | 25503493 |
nsv1110863 | OTHER | inversion | 24896259 |
nsv428388 | CNV | loss | 18775914 |
nsv469659 | CNV | gain+loss | 16826518 |
nsv588756 | CNV | gain+loss | 21841781 |
nsv7350 | OTHER | inversion | 18451855 |
nsv834162 | CNV | loss | 17160897 |
nsv834163 | CNV | gain+loss | 17160897 |
nsv962779 | CNV | duplication | 23825009 |
nsv9888 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cataract 3, multiple types |
|
|
cerulean cataract |
|
|
early-onset posterior subcapsular cataract |
|
|
early-onset sutural cataract |
|
|
cataract 30, multiple types |
|
|