CRYBB2 Gene
protein-coding GIFtS : 53
GCID: GC22 P025615
crystallin, beta B2 (Previous symbols: CCA2, CRYB2A, CRYB2 )
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor CRYBB2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Crystallin, Beta B2 1 2 Beta-Crystallin Bp2 3 CRYB21 2 3 5 D22S6652 CRYB2A1 2 3 Beta-Crystallin B22 CCA21 2 Eye Lens Structural Protein2 Beta-B2 Crystallin2 3
Export aliases for CRYBB2 gene to outside databases Previous GC identifers: GC22P022313 GC22P023940 GC22P023941 GC22P008563
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor CRYBB2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for CRYBB2 : Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: CRBB2_HUMAN, P43320 Function : Crystallins are the dominant structural components of the vertebrate eye lensGene Wiki entry for CRYBB2
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor CRYBB2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000022.10 NC_018933.1 NT_011520.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CRYBB2 gene promoter: Zic1 Brachyury Lmo2 Zic3 E47 Other transcription factors Search SABiosciences Chromatin IP Primers for CRYBB2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYBB2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 22q11.23 Ensembl cytogenetic band: 22q11.23 HGNC cytogenetic band: 22q11.23 CRYBB2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 22 GeneLoc Exon Structure
GeneLoc location for GC22P025615: view genomic region
(about GC identifiers )
Start:
25,615,489 bp from pter
End:
25,627,836 bp from pter
Size:
12,348 bases
Orientation:
plus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor CRYBB2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: CRBB2_HUMAN, P43320 (See
protein sequence )Recommended Name: Beta-crystallin B2 Size : 205 amino acids; 23380 Da
Subunit : Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to bestabilized through interactions between the N-terminal arms (By similarity)
Mass spectrometry : Mass=23291; Mass_error=3; Method=Electrospray; Range=2-205; Source=PubMed:8999933;
Mass spectrometry : Mass=23289; Method=Electrospray; Range=2-205; Source=PubMed:8175657;
Mass spectrometry : Mass=23290; Method=Electrospray; Range=2-205; Source=PubMed:10930324;
1 PDB 3D structure from and Proteopedia for CRYBB2 :1YTQ (3D)
 
Secondary accessions : Q9UCM8Explore the universe of human proteins at neXtProt for CRYBB2: NX_P43320 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P43320 CRYBB2 Protein expression data from MOPED and PaxDb : --REFSEQ proteins: NP_000487.1 ENSEMBL proteins: ENSP00000381273 Human Recombinant Protein Products for CRYBB2: CRYBB2 Antibody Products: Assay Products for CRYBB2:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor CRYBB2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CRYBB2 for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P43320 ProtoNet protein and cluster: P43320
2 Blocks protein families : IPB001064 Beta and gamma crystallin IPB011024 Gamma-crystallin related UniProtKB/Swiss-Prot: CRBB2_HUMAN, P43320 Domain : Has a two-domain beta-structure, folded into four very similar Greek key motifsSimilarity : Belongs to the beta/gamma-crystallin familySimilarity : Contains 4 beta/gamma crystallin 'Greek key' domains
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor CRYBB2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: CRBB2_HUMAN, P43320 Function : Crystallins are the dominant structural components of the vertebrate eye lens
Genatlas biochemistry entry for CRYBB2 : crystallin,beta polypeptide B2 Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
CRYBB2 for ontologies About GeneDecksing Phenotypes: 3 GenomeRNAi human phenotypes for CRYBB2 : 3 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Crybb2) :
CRYBB2 for phenotypes About GeneDecksing Animal Models: Mouse knock-out Crybb2 tm1Itl for CRYBB2Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CRYBB2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CRYBB2OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CRYBB2 (NM_000496 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CRYBB2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CRYBB2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB2
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor CRYBB2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Wnt Signaling Pathway
1 BioSystems Pathway for CRYBB2 Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRYBB2 5/10 Interacting proteins for CRYBB2 (P43320 1 , 2 , 3 ) via UniProtKB, MINT, STRING, and/or I2D (see all 10 )About this table Gene Ontology (GO): 3 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0007601 visual perception
IEA -- GO:0043010 camera-type eye development
IEA -- GO:0050896 response to stimulus
IEA --
CRYBB2 for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor CRYBB2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for CRYBB2 Search CenterWatch for drugs/clinical trials and news about CRYBB2 / CRBB2
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor CRYBB2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for CRYBB2 gene: NM_000496.2 Unigene Cluster for CRYBB2:
Crystallin, beta B2 Hs.373074 [show with all ESTs ] Unigene Representative Sequence: NM_000496 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000398215 (uc003abp.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CRYBB2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CRYBB2OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CRYBB2 (NM_000496 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CRYBB2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CRYBB2
Additional cDNA sequence: BC069535.1 CR456426.1 L10035.1
6 DOTS entries : DT.97855900 DT.120646233
DT.120646267 DT.97855899 DT.97855898 DT.97855901 24/354 AceView cDNA sequences (see all 354 ):
BF727342 BM667918 BF727099 BM705786 BM705681 BU734595 BM705878 BM716449 BM705016 BM696280 BU734986 BM696538 BF726454 BM706040 BM696750 BF727088 BM705662 BF726692 BM696937 BF726391 BM705979 BM706349 BM705381 BM696875 GeneLoc Exon Structure
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for CRYBB2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section CRYBB2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CCTCCTTCCCAbout this image CRYBB2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Eye Lens Eye Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Genevestigator expression for CRYBB2 SOURCE GeneReport for Unigene cluster: Hs.373074 SABiosciences Custom PCR Arrays for CRYBB2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CRYBB2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CRYBB2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CRYBB2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CRYBB2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB2
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor CRYBB2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for CRYBB2 gene from 3/10 species (see all 10 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
CRYBB21
crystallin, beta B2
81.14(n) 82.93(a)
 
396088 NM_205175.3 NP_990506.2
African clawed frog (Xenopus laevis)
Amphibia
Xl.175812
Xenopus laevis transcribed sequence with moderate similarity more
79.32(n)
 
BX847026.1
zebrafish (Danio rerio)
Actinopterygii
crybb21
crystallin, beta B2
75.45(n) 75.12(a)
 
553182 NM_001018128.1 NP_001018138.1
ENSEMBL Gene Tree for CRYBB2 (if available)TreeFam Gene Tree for CRYBB2 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor CRYBB2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CRYBB2 gene CRYBB3 2 CRYBA4 2 CRYGB 2 CRYBA1 2 CRYGD 2 CRYGA 2 CRYBB1 2 CRYGC 2 CRYGN 2 CRYBA2 2 CRYGS 2 15 SIMAP similar genes for CRYBB2 using alignment to 1 protein entry: CRBB2_HUMAN :CRYBB1 CRYBB3 CRYBA1 CRYBA4 CRYBA2 CRYGS DKFZp434A0627 CRYBG3 CRYGB CRYGC AIM1L CRYGA CRYGD DKFZp434L1713 AIM1
CRYBB2 for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for CRYBB2 PGOHUM00000246551
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor CRYBB2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 22 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CRYBB2 (25615489 - 25627836 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 13 variations for CRYBB2 13 CNVs : 2270 67861 34568 90997 5357 3239 54003 79528 8903 4120 31083 53978 34657 Human Gene Mutation Database (HGMD) : CRYBB2 Locus Specific Mutation Databases (LSDB): CRYBB2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CRYBB2
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor CRYBB2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
CRYBB2 for disorders About GeneDecksing OMIM gene information: 123620 OMIM disorders : 601547 607133 604307 UniProtKB/Swiss-Prot: CRBB2_HUMAN, P43320
Defects in CRYBB2 are the cause of cataract congenital cerulean type 2 (CCA2) [MIM:601547]; also known as congenital cataract blue dot type 2. A cerulean form of autosomal dominant congenital cataract. 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 Defects in CRYBB2 are the cause of cataract sutural with punctate and cerulean opacities (CSPC) [MIM:607133]. A form of cataract 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 Defects in CRYBB2 are a cause of cataract Coppock-like (CCL) [MIM:604307]. A congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited 14 diseases for CRYBB2 : About MalaCards cataract, sutural, with punctate and cerulean opacities cerulean cataract cataract, coppock-like cataract cataract, cerulean, type 2 cataracts, autosomal dominant posterior polar cataract age related macular degeneration macular degeneration congenital cataracts senile cataract neurofibromatosis blindness retinitis 1 disease from the University of Copenhagen DISEASES database for CRYBB2 :Senile cataract 3 Novoseek disease relationships for CRYBB2 gene About this table
Export disorders for CRYBB2 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor CRYBB2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for CRYBB2 gene, integrated from 9 sources (see all 66 ): (articles sorted by number of sources associating them with CRYBB2) Utopia : connect your pdf to the dynamic world of online information
Sequence of the human lens beta B2-crystallin-encoding cDNA. (PubMed id 8224918) 1 , 2 , 3, 9 Chambers C. and Russell P. (1993) Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. (PubMed id 9158139) 1 , 2 , 3 Litt M.... Maumenee I.H. (1997) Post-translational modifications of water-soluble human lens crystallins from young adults. (PubMed id 8175657) 1 , 2 , 9 Miesbauer L.R....Smith J.B. (1994) A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802) 1 , 2 Collins J.E.... Dunham I. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage. (PubMed id 10930324) 1 , 2 Hanson S.R.A.... Smith J.B. (2000) Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. (PubMed id 10634616) 1 , 2 Gill D.... Heon E. (2000) The DNA sequence of human chromosome 22. (PubMed id 10591208) 1 , 2 Dunham I....O'Brien K.P. (1999) Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PubMed id 8999933) 1 , 2 Lampi K.J....David L.L. (1997) Amino acid sequence of human lens beta B2-crystallin. (PubMed id 8443605) 1 , 2 Miesbauer L.R.... Smith D.L. (1993)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for CRYBB2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing CRYBB2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing CRYBB2 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing CRYBB2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for CRYBB2 Pharmacogenomics, SNPs, Pathways
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for CRYBB2 gene: Search GeneIP for patents involving CRYBB2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor CRYBB2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for CRYBB2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CRYBB2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CRYBB2 OriGene Protein Over-expression Lysate for CRYBB2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CRYBB2 OriGene 3'-UTR Clone for CRYBB2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CRYBB2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CRYBB2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for CRYBB2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CRYBB2 OriGene Custom Protein Services for CRYBB2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CRYBB2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CRYBB2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYBB2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CRYBB2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CRYBB2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CRYBB2
Search Tocris compounds for CRYBB2
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB2
Search ThermoFisher Antibodies for CRYBB2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CRYBB2
Jump to Section...
Aliases for CRYBB2
Databases for CRYBB2
Disorders / Diseases for CRYBB2
Domains / Families for CRYBB2
Drugs / Compounds for CRYBB2
Expression for CRYBB2
Function for CRYBB2
Genomic Views for CRYBB2
Intellectual Property for CRYBB2
Orthologs for CRYBB2
Paralogs for CRYBB2
Pathways / Interactions for CRYBB2
Products for CRYBB2
Proteins for CRYBB2
Publications for CRYBB2
Search Box for CRYBB2
Summaries for CRYBB2
Transcripts for CRYBB2
Variants for CRYBB2
TOP
BOTTOM