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).
21245961 analysis of a novel CRYBB2 gene mutation, resulting in the amino substitution p. A2V in a Chinese family with posterior subcapsular congenital cataracts
21031021 Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany.
20565250 Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic.
19649175 This study identified a missense mutation in CRYBB2 in a family of Basotho with autosomal dominant congenital cataract (ADCC).
19321936 This is the first report of congenital cerulean cataract associated with a mutation in CRYBB2 in a Chinese family.
19190732 deamidation decreased formation of hetero-oligomers between beta-crystallin subunits; excess accumulation of deamidated beta-crystallins in vivo may disrupt normal protein-protein interactions and diminish the stabilizing effects between them
18617901 a novel cataract-causing mutation, c.92C>G in exon 2 of the CRYBB2 gene, which causes the 31st residue serine substituted by tryptophan (S31W), was identified in an autosomal dominant coronary cataract family.
18449377 These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition.
17937660 combined with previously reported observations of alpha-crystallin quaternary structure have led us to propose a structural model of how activated alpha-crystallin chaperones unfolded betaB2-crystallin
17653036 the CRYBB2 D128V mutation segregates only in family members affected with congenital cataracts and is not seen in representative controls; it represents the first mutation outside exon 6 of the human CRYBB2 gene
17234267 Cataracts in ADC53 Chilean family are caused by mutation in CRYBB2 gene; as 2 variations in CRYBB2 are identical to reference sequence of pseudogene CRYBB2P1, which has over 97% homology to CRYBB2, a gene conversion probably has occurred.
16519509 These results suggest that deamidation at critical sites destabilizes betaB2 and may disrupt the function of betaB2 in the lens.
16319073 The V60E and V144E mutants were found to be partially unfolded and incapable of forming a complete dimer.
16179907 Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation.
15452067 Exon 6 of CRYBB2 appears to be a critical region susceptible for mutations leading to lens opacity.
12535638 Results show that betaB2-crystallin undergoes age-related truncation producing fragments with M(r) between 4 and 19kDa that are present in the beta(H)-crystallin oligomer.
12457849 calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride

AA Sequence

MASDHQTQAGKPQSLNPKIIIFEQENFQGHSHELNGPCPNLKETGVEKAGSVLVQAGPWVGYEQANCKGE      1 - 70
QFVFEKGEYPRWDSWTSSRRTDSLSSLRPIKVDSQEHKIILYENPNFTGKKMEIIDDDVPSFHAHGYQEK     71 - 140
VSSVRVQSGTWVGYQYPGYRGLQYLLEKGDYKDSSDFGAPHPQVQSVRRIRDMQWHQRGAFHPSN         141 - 205
//

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.
21245961 2011 Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
21031021 2010 Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
20565250 2010 Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.
19649175 2009 Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
19321936 2009 Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin.
19190732 2009 Deamidation alters interactions of beta-crystallins in hetero-oligomers.
18617901 2009 A novel mutation in CRYBB2 responsible for inherited coronary cataract.
18449377 2008 Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
18162101 2008 Linkage and association analyses of intragenic SNPs in the canine beta-crystallin genes CRYBB1, CRYBB2, CRYBB3, CRYBA1 and CRYBA4 with primary cataracts in wire-haired Dachshunds.
17937660 2008 Association of partially folded lens betaB2-crystallins with the alpha-crystallin molecular chaperone.
17662718 2007 Protein-protein interactions among human lens acidic and basic beta-crystallins.
17653036 2007 Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
17327390 2007 Mutation of interfaces in domain-swapped human betaB2-crystallin.
17234267 2007 Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.
16519509 2006 Deamidation in human lens betaB2-crystallin destabilizes the dimer.
16319073 2006 Domain interaction sites of human lens betaB2-crystallin.
16179907 2005 Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15452067 2004 Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
12601044 2003 Alteration of protein-protein interactions of congenital cataract crystallin mutants.
12535638 2003 BetaB2-crystallin undergoes extensive truncation during aging in human lenses.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12457849 2002 Unfolding of human lens recombinant betaB2- and gammaC-crystallins.
12060738 2002 Shotgun identification of protein modifications from protein complexes and lens tissue.
11700327 2002 Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay.
11424921 2001 A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.
10930324 2000 The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10634616 2000 Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
10591208 1999 The DNA sequence of human chromosome 22.
9158139 1997 Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
8999933 1997 Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8812489 1996 A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.
8443605 1993 Amino acid sequence of human lens beta B2-crystallin.
8224918 1993 Sequence of the human lens beta B2-crystallin-encoding cDNA.
8175657 1994 Post-translational modifications of water-soluble human lens crystallins from young adults.
3436525 1987 Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster.
2055112 1991 Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2.
1521468 1992 Two-dimensional gel electrophoretic analysis of human lens proteins.