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CRYBB2 Gene

protein-coding   GIFtS: 52
GCID: GC22P025615

Crystallin, Beta B2


(Previous symbols: CCA2, CRYB2A, CRYB2)
  See CRYBB2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Crystallin, Beta B21 2     Beta-Crystallin Bp2 3
CRYB21 2 3 5     CTRCT32 5
CRYB2A1 2 3     D22S6652
CCA21 2 5     Beta-Crystallin B22
Beta-B2 Crystallin2 3     Eye Lens Structural Protein2

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CRYBB2 Gene:
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)

GeneCards Summary for CRYBB2 Gene:
CRYBB2 (crystallin, beta B2) is a protein-coding gene. Diseases associated with CRYBB2 include cataract 3, multiple types, and cataract 20, multiple types. GO annotations related to this gene include structural molecule activity and protein homodimerization activity. An important paralog of this gene is CRYBB3.

UniProtKB/Swiss-Prot: CRBB2_HUMAN, P43320
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   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 Chromatin IP Primers for CRYBB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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

Explore proteomics data for CRYBB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CRYBB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000487.1  
    ENSEMBL proteins: 
     ENSP00000381273  

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    antibodies-online proteins for CRYBB2 (12 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with CRYBB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with CRYBB2           About GenesLikeMe


    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 

    Find genes that share phenotypes with CRYBB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Crybb2tm1Itl for CRYBB2

       genOway: Develop your customized and physiologically relevant rodent model for CRYBB2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CRYBB2 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt Signaling Pathway NetPath0.37


    1 BioSystems Pathway for CRYBB2
        Wnt Signaling Pathway NetPath


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRYBB2
    Interactions:

        GeneGlobe Interaction Network for CRYBB2

    Selected 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:    About this table

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

    Find genes that share ontologies with CRYBB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRYBB2 (CRBB2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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      QuantiFast Probe-based Assays in human, mouse, rat CRYBB2

    Additional mRNA sequence: 

    BC069535.1 CR456426.1 L10035.1 

    6 DOTS entries:

    DT.97855900  DT.120646233  DT.120646267  DT.97855899  DT.97855898  DT.97855901 

    Selected AceView cDNA sequences (see all 354):

    BM696273 BF727135 BM697292 BF726445 BM697062 BF726340 BM669124 BU734589 
    BU736935 BF726238 BM705381 BF727279 BM705539 BM705805 BM705016 BM696659 
    BF726506 BU734986 BM697395 BM706271 BF727007 BM696434 BM716464 BM705948 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CRYBB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCCTTCCC
    CRYBB2 Expression
    About this image


    CRYBB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)
             Lens
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    CRYBB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRYBB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.373074
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CRYBB2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crybb21 , 5 crystallin, beta B21, 5 89.27(n)1
    97.07(a)1
      5 (55.38 cM)5
    129611  NM_007773.31  NP_031799.11 
     1130582585 
    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)
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    Paralogs for CRYBB2 gene
    CRYBB32  CRYGB2  CRYBA42  CRYBA12  CRYGD2  CRYGA2  CRYBB12  CRYGC2  
    CRYBA22  CRYGN2  CRYGS2  
    15 SIMAP similar genes for CRYBB2 using alignment to 2 protein entries:     CRBB2_HUMAN (see all proteins):
    CRYBB1    CRYBB3    CRYBA1    CRYBA4    CRYBA2    CRYGS
    DKFZp434A0627    CRYBG3    CRYGB    CRYGC    AIM1L    CRYGA
    CRYGD    DKFZp434L1713    AIM1

    Find genes that share paralogs with CRYBB2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CRYBB2
    PGOHUM00000246551


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRYBB2 (see all 459)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743154891,2
    Cpathogenic19550719(+) GCTACC/TAGTAC 2 Q * stg10--------
    rs341915631,2
    C--8561907(+) ATCTC-/AAAAAA 1 -- us2k10--------
    rs1116153811,2
    F--9536759(+) TATGCG/ATCAGG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1904460891,2
    --9536797(+) ACCAGC/GGGGAC 1 -- us2k10--------
    rs1807609541,2
    --9536832(+) ATCTTC/GTCATT 1 -- us2k10--------
    rs72841411,2
    H--9536862(+) GAGTAA/TCAGAA 1 -- us2k14Minor allele frequency- T:0.00NS EA 416
    rs1129042171,2
    C--9536893(+) TGCAAG/AAGGAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs96204971,2
    C,F,H--9536928(+) TGTGTG/TTGTAG 1 -- us2k16Minor allele frequency- T:0.02NS EA WA NA 638
    rs57609161,2
    C,F,A--9536946(+) gcatgT/Cgtgtg 1 -- us2k111Minor allele frequency- C:0.30WA NA CSA EA 372
    rs1120743711,2
    C,F--9536980(+) TGAGAG/AACAGG 1 -- us2k12Minor allele frequency- A:0.04NA 122

    HapMap Linkage Disequilibrium report for CRYBB2 (25615489 - 25627836 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CRYBB2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv778e201CNV Deletion23290073
    dgv24e196CNV Duplication17116639
    dgv575n27CNV Loss19166990
    nsv834162CNV Loss17160897
    nsv428388CNV Loss18775914
    nsv9888CNV Gain18304495
    dgv175e55CNV Gain17911159
    dgv576n27CNV Gain19166990
    nsv834163CNV Gain+Loss17160897
    esv23681CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): CRYBB2
    Locus Specific Mutation Databases (LSDB): CRYBB2

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 123620   
    OMIM disorders: 601547  
    UniProtKB/Swiss-Prot: CRBB2_HUMAN, P43320
  • Cataract 3, multiple types (CTRCT3) [MIM:601547]: 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. CTRCT3 includes congenital cerulean and sutural cataract
    with punctate and cerulean opacities, among others. 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. Sutural cataract with punctate and cerulean opacities is 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for CRYBB2:    
    About MalaCards
    cataract 3, multiple types    cataract 20, multiple types    cataract 10, multiple types    cerulean cataract
    cataracts, autosomal dominant    cataract 4, multiple types    cataract 1, multiple types

    1 disease from the University of Copenhagen DISEASES database for CRYBB2:
    Senile cataract

    Find genes that share disorders with CRYBB2           About GenesLikeMe

    3 Novoseek inferred 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)
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    PubMed articles for CRYBB2 gene, integrated from 10 sources (see all 69):
    (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. (Gene 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. (Hum. Mol. Genet. 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. (J. Biol. Chem. 1994)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 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. (Genome Res. 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. (Exp. Eye Res. 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. (Invest. Ophthalmol. Vis. Sci. 2000)
    8. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 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. (J. Biol. Chem. 1997)
    10. Amino acid sequence of human lens beta B2-crystallin. (PubMed id 8443605)1, 2 Miesbauer L.R.... Smith D.L. (Protein Sci. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
    PubMed
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1415 HGNC: 2398 AceView: CRYBB2 Ensembl:ENSG00000244752 euGenes: HUgn1415
    ECgene: CRYBB2 H-InvDB: CRYBB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



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