Property Summary

NCBI Gene PubMed Count 50
PubMed Score 147.03
PubTator Score 119.05

Knowledge Summary

Patent

No data available

Expression

Gene RIF (27)

PMID Text
25964531 This is the first study to analyze the association between genetic variations in the CRYBB2 gene with PCa. rs9608380, associated with Prostate cancer, is a potentially functional variant
25489230 Congenital cataracts were caused by the de novo gene conversion event in CRYBB2 in a consanguineous Jewish Ashkenazi family.
24704203 The distinct behaviors of the mutants suggested that the residue at position 188 might play a regulatory role in betaB2-crystallin aggregation/fibrillization but not reside in the core of the aggregates/fibrils.
24312286 missense mutation in CRYBB2 gene leads to progressive congenital membranous cataract by impacting the solubility and function of betaB2-crystallin
24120835 The last strand at the C-terminus of CRYBB2 is important for the protein stability and assembly.
23236454 The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of betaB2-crystallin.
22846113 Identification of the first CRYBB2 mutation in an Italian family causing a clinical picture of autosomal dominant congenital cataract.
22312185 A novel missense mutation, p.Arg188His, in CRYBB2 is associated with congenital cataract in a family of Croatian origin.
21877723 The Asp residue at position 4 of betaB2-crystallin in the lenses of the aged human eye lenses undergoes a significant degree of inversion and isomerization to the biologically D-beta-Asp.
21402992 Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected betaB2-crystallin (CRYBB2). One mutation (R233H) was detected in betaB1-crystallin (CRYBB1).
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AA Sequence

MASDHQTQAGKPQSLNPKIIIFEQENFQGHSHELNGPCPNLKETGVEKAGSVLVQAGPWVGYEQANCKGE      1 - 70
QFVFEKGEYPRWDSWTSSRRTDSLSSLRPIKVDSQEHKIILYENPNFTGKKMEIIDDDVPSFHAHGYQEK     71 - 140
VSSVRVQSGTWVGYQYPGYRGLQYLLEKGDYKDSSDFGAPHPQVQSVRRIRDMQWHQRGAFHPSN         141 - 205
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Text Mined References (51)

PMID Year Title
25964531 2015 Analyzing the Association of Polymorphisms in the CRYBB2 Gene with Prostate Cancer Risk in African Americans.
25489230 2014 Congenital cataracts: de novo gene conversion event in CRYBB2.
24704203 2014 Cataract-linked mutation R188H promotes ?B2-crystallin aggregation and fibrillization during acid denaturation.
24312286 2013 A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of ?B2-crystallin.
24120835 2014 The importance of the last strand at the C-terminus in ?B2-crystallin stability and assembly.
23236454 2012 The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of ?B2-crystallin.
22846113 A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
22312185 2012 Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
21877723 2011 Simultaneous stereoinversion and isomerization at the Asp-4 residue in ?B2-crystallin from the aged human eye lenses.
21402992 2011 Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.
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