CRYBA2
entrez
1412
canonical
uniprot
P53672
canonical
ensembl
ENSG00000163499
resolver
ensp
ENSP00000295728
resolver
ensp
ENSP00000375946
resolver
ensp
ENSP00000611938
resolver
ensp
ENSP00000611939
resolver
enst
ENST00000295728
resolver
enst
ENST00000392096
resolver
enst
ENST00000941879
resolver
enst
ENST00000941880
resolver
genesymbol
CRYBA2
resolver
hgnc
HGNC:2395
resolver
uniprot
Q4ZFX0
resolver
uniprot
Q9Y562
resolver
uniprot_entry
CRBA2_HUMAN
resolver
uniprot_sec
Q4ZFX0
resolver
uniprot_sec
Q9Y562
resolver
amino_acid_sequence
MSSAPAPGPAPASLTLWDEEDFQGRRCRLLSDCANVCERGGLPRVRSVKVENGVWVAFEYPDFQGQQFILEKGDYPRWSAWSGSSSHNSNQLLSFRPVLCANHNDSRVTLFEGDNFQGCKFDLVDDYPSLPSMGWASKDVGSLKVSSGAWVAYQYPGYRGYQYVLERDRHSGEFCTYGELGTQAHTGQLQSIRRVQH
uniprot
proteins
disease_involvement
DISEASE: Cataract 42 (CTRCT42) [MIM:115900]: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269|PubMed:23508780}. 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
22096
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
23508780
uniprot
proteins
pubmed
24035193
uniprot
proteins
pubmed
7490092
uniprot
proteins
sequence_length
197
uniprot
proteins