Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRYBB2 Gene

protein-coding   GIFtS: 53
GCID: GC22P025615

crystallin, beta B2


(Previous symbols: CCA2, CRYB2A, CRYB2)
 Explore 14 diseases affiliated with
CRYBB2 via our new
 Human Malady Compendium 
Biological research products
for CRYBB2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Crystallin, Beta B21 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     

External Ids:    HGNC: 23981   Entrez Gene: 14152   Ensembl: ENSG000002447527   OMIM: 1236205   UniProtKB: P433203   

Export aliases for CRYBB2 gene to outside databases

Previous GC identifers: GC22P022313 GC22P023940 GC22P023941 GC22P008563


(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 lens

Gene Wiki entry for CRYBB2


(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

SwitchGear Promoter luciferase reporter plasmidCRYBB2 promoter sequence
   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)
CRYBB2 gene location

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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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 be
stabilized 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: Q9UCM8

Explore the universe of human proteins at neXtProt for CRYBB2: NX_P43320

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: CRYBB2
    OriGene Protein Over-expression Lysate: CRYBB2
    OriGene Custom Protein Services for CRYBB2 
    GenScript Custom Purified and Recombinant Proteins Services for CRYBB2
    Novus Biologicals CRYBB2 Protein
    Novus Biologicals CRYBB2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn


    CRYBB2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CRYBB2 
    GenScript Custom Superior Antibodies Services for CRYBB2
    Novus Biologicals CRYBB2 Antibodies
    Abcam antibodies for CRYBB2 
    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for CRYBB2

    Assay Products for CRYBB2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CRYBB2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn


    (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:
     IPR001064 Beta/gamma_crystallin
     IPR011024 G_crystallin-rel

    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 motifs
    Similarity: Belongs to the beta/gamma-crystallin family
    Similarity: Contains 4 beta/gamma crystallin 'Greek key' domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS8224918
    GO:0005212structural constituent of eye lens IEA--
    GO:0042802identical protein binding IPI16319073
    GO:0042803protein homodimerization activity IEA--
         
    CRYBB2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CRYBB2:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with imatinib 

         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Crybb2):
     cellular  nervous system  vision/eye 

    CRYBB2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Crybb2tm1Itl for CRYBB2
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CRYBB2 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: CRYBB2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYBB2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CRYBB2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRYBB2 (see all 7)
    OriGene shRNA RFP: CRYBB2
    OriGene siRNA: CRYBB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRYBB2
    Sirion Biotech Custom design and validation of potent shRNA sequences against CRYBB2 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CRYBB2
    Sirion Biotech Customized adenovirus for overexpression of CRYBB2 
    Sirion Biotech Customized adenovirus for potent knockdown of CRYBB2

    Clone
    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 CRYBB2
    OriGene 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 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CRYBB2
    Search LifeMap BioReagents cell lines for CRYBB2
    Sirion Biotech Customized stable knockdown cell line services for CRYBB2 
    Sirion Biotech Customized inducible knockdown cell line services for CRYBB2
    Sirion Biotech Customized stable overexpressing cell line services for CRYBB2
    Sirion Biotech Customized inducible overexpressing cell line services for CRYBB2

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB2


    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    Wnt Signaling Pathway NetPath0.22


    1 BioSystems Pathway for CRYBB2 
        Wnt Signaling Pathway NetPath


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRYBB2

    5/10 Interacting proteins for CRYBB2 (P433201, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYAAP024892, 3MINT-14200 MINT-14199 MINT-14201 I2D: score=4 
    CRYABP025112, 3MINT-17764 MINT-17762 MINT-17763 I2D: score=4 
    CRYGCP073152, 3MINT-16208 MINT-16209 MINT-16207 I2D: score=3 
    HSPB1P047922, 3MINT-16469 I2D: score=4 
    CRYBA2P536722, 3MINT-5162081 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0043010camera-type eye development IEA--
    GO:0050896response to stimulus IEA--

    CRYBB2 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRYBB2
    Search CenterWatch for drugs/clinical trials and news about CRYBB2 / CRBB2 

    (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)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: CRYBB2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYBB2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CRYBB2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRYBB2 (see all 7)
    OriGene shRNA RFP: CRYBB2
    OriGene siRNA: CRYBB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRYBB2
    Sirion Biotech Custom design and validation of potent shRNA sequences against CRYBB2 
    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 CRYBB2
    OriGene 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 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRYBB2
    Browse 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

    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


    (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 imageBioGPS
    CGAP TAG: CCTCCTTCCC
    CRYBB2 Expression
    About 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 CellCategory (developmental path)
    EyeLensEye
    Expression: Positive    Negative     Selective marker
    Experimental 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 CRYBB2
    Browse 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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl 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) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRYBB2 gene
    CRYBB32  CRYBA42  CRYGB2  CRYBA12  CRYGD2  CRYGA2  CRYBB12  CRYGC2  
    CRYGN2  CRYBA22  CRYGS2  
    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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/386 NCBI SNPs in CRYBB2 are shown (see all 386    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743154891,2
    Cpathogenic8575253(+) GCTACC/TAGTAC 2 Q * stg10--------
    rs1116153811,2
    --8561299(+) TATGCG/ATCAGG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs72841411,2
    H--8561402(+) GAGTAA/TCAGAA 1 -- us2k14Minor allele frequency- T:0.00NS EA 416
    rs96204971,2
    F,H--8561468(+) TGTGTG/TTGTAG 1 -- us2k16Minor allele frequency- T:0.02NS EA WA NA 638
    rs1120743711,2
    C--8561520(+) TGAGAG/AACAGG 1 -- us2k12Minor allele frequency- A:0.04NA 122
    rs96204981,2
    C,F--8561839(+) gaggcG/Agagct 1 -- us2k12Minor allele frequency- A:0.50NA WA 4
    rs60044891,2
    --8561863(+) gatcgC/Tgccac 1 -- us2k10--------
    rs731622391,2
    --8562002(+) CACTCC/TAGGAC 1 -- us2k10--------
    rs72847751,2
    C,F,H--8563393(+) AgtgaC/Gtttgg 1 -- int110Minor allele frequency- G:0.05NS EA NA WA 1306
    rs121610771,2
    C,F,H--8563530(+) agtggG/Ccattg 1 -- int16Minor allele frequency- C:0.02NS EA WA 494

    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
    DNA2.0 Custom Variant and Variant Library Synthesis for CRYBB2

    (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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cataract, autosomal dominant 93.9 2 11424921 (1), 17234267 (1)
    congenital cataract 86.3 1 15452067 (1)
    cataract 68.7 8 19321936 (1), 20450675 (1), 12567263 (1), 15452067 (1) (see all 7)


    Export disorders for CRYBB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    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

    1. Sequence of the human lens beta B2-crystallin-encoding cDNA. (PubMed id 8224918)1, 2, 3, 9 Chambers C. and Russell P. (1993)
    2. 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)
    3. 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)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. 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)
    6. 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)
    7. 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)
    8. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    9. 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)
    10. Amino acid sequence of human lens beta B2-crystallin. (PubMed id 8443605)1, 2 Miesbauer L.R.... Smith D.L. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1415 HGNC: 2398 AceView: CRYBB2 Ensembl:ENSG00000244752 euGenes: HUgn1415
    ECgene: CRYBB2 H-InvDB: CRYBB2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CRYBB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



    (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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     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
     GenScript Custom Purified and Recombinant Proteins Services for CRYBB2 GenScript cDNA clones with any tag delivered in your preferred vector for CRYBB2
     GenScript Custom Assay Services for CRYBB2 GenScript Custom Superior Antibodies Services for CRYBB2
     GenScript Custom overexpressing Cell Line Services for CRYBB2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CRYBB2 promoter
     Search Chromatin IP Primers for CRYBB2
     RT2 qPCR Primer Assay in human, mouse, rat CRYBB2
     GNC Network for CRYBB2
     SABiosciences Custom PCR Arrays for CRYBB2
     Search Tocris compounds for CRYBB2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CRYBB2 antibodies
     CRYBB2 proteins
     CRYBB2 lysates
     Antibodies for CRYBB2
     See all of Abcam's Antibodies, Kits and Proteins for CRYBB2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for CRYBB2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CRYBB2
     SwitchGear Promoter luciferase reporter plasmids for CRYBB2
     Search ThermoFisher Antibodies for CRYBB2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYBB2
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CRYBB2
    Sirion Biotech Customized:
     stable knockdown cell line services for CRYBB2
     inducible knockdown cell line services for CRYBB2
     design and validation of potent shRNA sequences against CRYBB2
     adenovirus for potent knockdown of CRYBB2
     adenovirus for overexpression of CRYBB2
     stable overexpressing cell line services for CRYBB2
     inducible overexpressing cell line services for CRYBB2
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CRYBB2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4