CRYBB2
entrez
1415
canonical
uniprot
P43320
canonical
ensembl
ENSG00000244752
resolver
ensp
ENSP00000381273
resolver
ensp
ENSP00000498905
resolver
ensp
ENSP00000525678
resolver
enst
ENST00000398215
resolver
enst
ENST00000651629
resolver
enst
ENST00000855619
resolver
genesymbol
CRYBB2
resolver
genesymbol_syn
CRYB2
resolver
genesymbol_syn
CRYB2A
resolver
hgnc
HGNC:2398
resolver
uniprot
Q9UCM8
resolver
uniprot
R4UMM2
resolver
uniprot_entry
CRBB2_HUMAN
resolver
uniprot_entry
R4UMM2_HUMAN
resolver
uniprot_sec
Q9UCM8
resolver
amino_acid_sequence
MASDHQTQAGKPQSLNPKIIIFEQENFQGHSHELNGPCPNLKETGVEKAGSVLVQAGPWVGYEQANCKGEQFVFEKGEYPRWDSWTSSRRTDSLSSLRPIKVDSQEHKIILYENPNFTGKKMEIIDDDVPSFHAHGYQEKVSSVRVQSGTWVGYQYPGYRGLQYLLEKGDYKDSSDFGAPHPQVQSVRRIRDMQWHQRGAFHPSN
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10634616, ECO:0000269|PubMed:28839118, ECO:0000269|PubMed:29259299, ECO:0000269|PubMed:29386872, ECO:0000269|PubMed:31523120, ECO:0000269|PubMed:9158139}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.
uniprot
proteins
mass_dalton
23380
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10634616
uniprot
proteins
pubmed
10930324
uniprot
proteins
pubmed
1521468
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17327390
uniprot
proteins
pubmed
28839118
uniprot
proteins
pubmed
29259299
uniprot
proteins
pubmed
29386872
uniprot
proteins
pubmed
31523120
uniprot
proteins
pubmed
8175657
uniprot
proteins
pubmed
8224918
uniprot
proteins
pubmed
8443605
uniprot
proteins
pubmed
8999933
uniprot
proteins
pubmed
9158139
uniprot
proteins
sequence_length
205
uniprot
proteins