InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYBB2

Summary

InnateDB Protein

IDBP-233627.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRYBB2

Protein Name

crystallin, beta B2

Synonyms

CCA2; CRYB2; CRYB2A; CTRCT3; D22S665;

Species

Homo sapiens

Ensembl Protein

ENSP00000381273

InnateDB Gene

IDBG-401988 (CRYBB2)

Protein Structure

UniProt Annotation

Function

Crystallins are the dominant structural components of the vertebrate eye lens.

Subcellular Localization

Disease Associations

Cataract 3, multiple types (CTRCT3) [MIM:601547]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. {ECO:0000269PubMed:10634616, ECO:0000269PubMed:9158139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005212	structural constituent of eye lens
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity