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CRYBB3 Gene

protein-coding   GIFtS: 54
GCID: GC22P025595

Crystallin, Beta B3


(Previous symbol: CRYB3)
  See CRYBB3-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Crystallin, Beta B31 2     Beta-Crystallin B32
CRYB31 2 3 5     Eye Lens Structural Protein2
CATCN22 5     Beta-B3 Crystallin3
CTRCT222 5     

External Ids:    HGNC: 24001   Entrez Gene: 14172   Ensembl: ENSG000001000537   OMIM: 1236305   UniProtKB: P269983   
ORGUL members:         

Export aliases for CRYBB3 gene to outside databases

Previous GC identifers: GC22P022291 GC22P023920 GC22P008543


(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 CRYBB3 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-B2. Mutations in this gene result in cataract congenital nuclear autosomal
recessive type 2. (provided by RefSeq, Feb 2013)

GeneCards Summary for CRYBB3 Gene:
CRYBB3 (crystallin, beta B3) is a protein-coding gene. Diseases associated with CRYBB3 include cataract, congenital nuclear, autosomal recessive 2, and cataract 22, autosomal recessive. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGB.

UniProtKB/Swiss-Prot: CRBB3_HUMAN, P26998
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYBB3 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  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRYBB3 gene promoter:
         AhR   HFH-3   Spz1   AML1a   Brachyury   Lmo2   AP-4   E47   Arnt   FOXI1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRYBB3 promoter sequence
   Search Chromatin IP Primers for CRYBB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRYBB3


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

CRYBB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYBB3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P025595:  view genomic region     (about GC identifiers)

Start:
25,595,817 bp from pter      End:
25,603,330 bp from pter
Size:
7,514 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CRBB3_HUMAN, P26998 (See protein sequence)
Recommended Name: Beta-crystallin B3  
Size: 211 amino acids; 24252 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=24222; Mass_error=3; Method=Electrospray; Range=1-211; Source=PubMed:8999933;
1 PDB 3D structure from and Proteopedia for CRYBB3:
3QK3 (3D)    
Secondary accessions: Q3B7S9 Q3T1B7 Q6ISK6 Q92965 Q9UH09

Explore the universe of human proteins at neXtProt for CRYBB3: NX_P26998

Explore proteomics data for CRYBB3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CRYBB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004067.1  
    ENSEMBL proteins: 
     ENSP00000215855   ENSP00000386123  

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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 P26998

    ProtoNet protein and cluster: P26998

    2 Blocks protein domains:
    IPB001064 Beta and gamma crystallin
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: CRBB3_HUMAN, P26998
    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 CRYBB3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: CRBB3_HUMAN, P26998
    Function: Crystallins are the dominant structural components of the vertebrate eye lens

         Genatlas biochemistry entry for CRYBB3:
    crystallin,beta polypeptide B3 (see CRYB@)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens IEA--
         
    Find genes that share ontologies with CRYBB3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CRYBB3:
     Increased cell number in G2M,   Small cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRYBB3
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    1 qRT-PCR Assays for microRNA that regulate CRYBB3:
    hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidCRYBB3 3' UTR sequence
    Inhib. RNA
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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
    extracellular1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRYBB3
    Interactions:

        Search GeneGlobe Interaction Network for CRYBB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for CRYBB3 (P269982, 3 ENSP000002158554) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYBA2P536722, 3, ENSP000002957284MINT-5161919 I2D: score=2 STRING: ENSP00000295728
    CRYBA1P058133, ENSP000002253874I2D: score=1 STRING: ENSP00000225387
    SRRM1Q8IYB33, ENSP000003262614I2D: score=1 STRING: ENSP00000326261
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    CRYBB3P269982MINT-5161902
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS8999933

    Find genes that share ontologies with CRYBB3           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 CRYBB3 (CRBB3)

    2 Novoseek inferred chemical compound relationships for CRYBB3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreozymin 93.1 2 9183670 (1), 9645429 (1)
    progesterone 22.2 2 9183670 (1), 9645429 (1)



    Find genes that share compounds with CRYBB3           About GenesLikeMe



    (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 CRYBB3 gene: 
    NM_004076.4  

    Unigene Cluster for CRYBB3:

    Crystallin, beta B3
    Hs.533022  [show with all ESTs]
    Unigene Representative Sequence: NM_004076
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215855(uc003abo.1) ENST00000404334
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CRYBB3:
    hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidCRYBB3 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CRYBB3

    Additional mRNA sequence: 

    BC069479.1 BC102021.1 BC102022.1 BC107482.1 CR456427.1 U71216.1 

    1 DOTS entry:

    DT.40226435 

    22 AceView cDNA sequences:

    BU734551 BM706274 NM_004076 BM711382 BM716587 BM697349 BF726162 BF726163 
    BC069479 BF726571 BF726617 CR456427 BF727357 BU737654 BM699711 BU737044 
    U71216 BF726971 BM699917 BU737531 BF726385 AA652300 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CRYBB3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                          -               
    SP2:                                          


    ECgene alternative splicing isoforms for CRYBB3

    (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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    CRYBB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCCAGGA
    CRYBB3 Expression
    About this image


    CRYBB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Eye (Sensory Organs)
    CRYBB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRYBB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533022
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    In Situ
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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 CRYBB3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crybb31 , 5 crystallin, beta B31, 5 89.1(n)1
    91.94(a)1
      5 (55.38 cM)5
    129621  NM_021352.31  NP_067327.11 
     1130758395 
    chicken
    (Gallus gallus)
    Aves CRYBB31 crystallin, beta B3 75.67(n)
    75.36(a)
      396108  NM_205191.1  NP_990522.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.263492 Xenopus laevis transcribed sequence with weak similarity more 76.44(n)    CD362449.1 
    zebrafish
    (Danio rerio)
    Actinopterygii crybb31 crystallin, beta B3 70.03(n)
    68.75(a)
      553184  NM_001018130.1  NP_001018140.1 


    ENSEMBL Gene Tree for CRYBB3 (if available)
    TreeFam Gene Tree for CRYBB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CRYBB3 gene
    CRYGB2  CRYBA42  CRYBA12  CRYBB22  CRYGD2  CRYGA2  CRYBB12  CRYGC2  
    CRYBA22  CRYGN2  CRYGS2  
    16 SIMAP similar genes for CRYBB3 using alignment to 2 protein entries:     CRBB3_HUMAN (see all proteins):
    CRYBB1    CRYBB2    CRYBA2    CRYBA1    CRYBA4    CRYGN
    CRYGS    CRYGB    CRYGC    CRYGA    CRYGD    CRYBG3
    AIM1L    DKFZp434A0627    DKFZp434L1713    AIM1

    Find genes that share paralogs with CRYBB3           About GenesLikeMe



    (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 CRYBB3 (see all 287)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0252804
    Cataract 22 (CTRCT22)4--see VAR_0252802 G R mis40--------
    VAR_0700314
    Cataract 22 (CTRCT22)4--see VAR_0700312 V E mis40--------
    rs743154901,2
    Cpathogenic19526179(+) TCCCCC/GGCTAC 2 R G mis10--------
    rs354203691,2
    C,F--8549898(+) CTCTG-/GCCCTC 1 -- int13Minor allele frequency- G:0.33NA CSA 6
    rs1510449671,2
    --9517046(+) AAGAAC/TGACCC 1 -- us2k10--------
    rs60044791,2
    C,F,A--9517142(+) GCAAGG/ATCCTC 1 -- us2k1 tfbs314Minor allele frequency- A:0.37NA WA CSA EA 515
    rs797881891,2
    C,F--9517161(+) GATGGG/AAGGGG 1 -- us2k15Minor allele frequency- A:0.05NA CSA WA 244
    rs1499622221,2
    --9517195(+) CCTTCC/TTCCTT 1 -- us2k10--------
    rs1909787451,2
    --9517243(+) GGTCCA/CAACCG 1 -- us2k10--------
    rs1449810521,2
    --9517349(+) CTGTGC/TGCAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRYBB3 (25595817 - 25603330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CRYBB3:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv24e196CNV Duplication17116639
    nsv428388CNV Loss18775914
    nsv834162CNV Loss17160897
    nsv9888CNV Gain18304495
    nsv469659CNV Complex16826518
    dgv1393e1CNV Complex17122850
    dgv1392e1CNV Complex17122850
    nsv7350OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): CRYBB3
    Locus Specific Mutation Databases (LSDB): CRYBB3

    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: 123630   
    OMIM disorders: 609741  
    UniProtKB/Swiss-Prot: CRBB3_HUMAN, P26998
  • Cataract 22 (CTRCT22) [MIM:609741]: 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. In general, the more posteriorly located and dense an opacity, the
    greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect
    the central nucleus of the eye, and are often not highly visually significant. The density of the opacities
    varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually
    bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity,
    which are referred to as cortical riders. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 7 diseases for CRYBB3:    
    About MalaCards
    cataract, congenital nuclear, autosomal recessive 2    cataract 22, autosomal recessive    cataract, congenital    cataract 39, multiple types, autosomal dominant
    cataract 4, multiple types    cerulean cataract    cataract


    Find genes that share disorders with CRYBB3           About GenesLikeMe

    2 Novoseek inferred disease relationships for CRYBB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital cataract 83.4 1 15914629 (1)
    cataract 65.4 3 20450675 (1), 19262743 (1)


    Export disorders for CRYBB3 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 CRYBB3 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with CRYBB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PubMed id 8999933)1, 2, 3 Lampi K.J....David L.L. (J. Biol. Chem. 1997)
    2. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. (PubMed id 15914629)1, 2, 9 Riazuddin S.A.... Hejtmancik J.F. (Invest. Ophthalmol. Vis. Sci. 2005)
    3. 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)
    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 DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. Different evolution rates within the lens-specific beta-crystallin gene family. (PubMed id 2499686)1, 2 Aarts H.J.M....Schoenmakers J.G.G. (J. Mol. Evol. 1989)
    7. A possibility of all mRNA expression in a human single lymphocyte. (PubMed id 9183670)1, 9 Kimoto Y. (Hum. Cell 1996)
    8. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. (PubMed id 8812489)1, 9 Kramer P....Litt M. (Genomics 1996)
    9. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. (PubMed id 23508780)2 Reis L.M....Semina E.V. (Hum. Genet. 2013)
    10. Linkage and association analyses of intragenic SNPs in the canine beta-crystallin genes CRYBB1, CRYBB2, CRYBB3, CRYBA1 and CRYBA4 with primary cataracts in wire-haired Dachshunds. (PubMed id 18162101)1 MA1ller C. and Distl O. (Anim. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      Query String
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      (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)
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    Entrez Gene: 1417 HGNC: 2400 AceView: CRYBB3 Ensembl:ENSG00000100053 euGenes: HUgn1417
    ECgene: CRYBB3 H-InvDB: CRYBB3

    (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)
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    NameDescription
    PharmGKB entry for CRYBB3 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 CRYBB3 gene:
    Search GeneIP for patents involving CRYBB3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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