Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CRYAA Gene

protein-coding   GIFtS: 67
GCID: GC21P044589

Crystallin, Alpha A


(Previous symbol: CRYA1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

TryGeneCards Plus

Aliases
Crystallin, Alpha A1 2     CTRCT92 5
CRYA11 2 3 5     Alpha-Crystallin A Chain2
Human AlphaA-Crystallin (CRYA1)2 11     Crystallin, Alpha-12
Heat Shock Protein Beta-42 3     HspB43
HSPB42 3     

External Ids:    HGNC: 23881   Entrez Gene: 14092   Ensembl: ENSG000001602027   OMIM: 1235805   UniProtKB: P024893   

Export aliases for CRYAA gene to outside databases

Previous GC identifers: GC21P041136 GC21P043483 GC21P043462 GC21P030007


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CRYAA Gene:
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two
gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat
shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although
they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in
large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous
aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two
additional functions of alpha crystallins are an autokinase activity and participation in the intracellular
architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform
mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is
preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this
gene cause autosomal dominant congenital cataract (ADCC). (provided by RefSeq, Jan 2014)

GeneCards Summary for CRYAA Gene:
CRYAA (crystallin, alpha A) is a protein-coding gene. Diseases associated with CRYAA include cataract 9, multiple types, and presbyopia. GO annotations related to this gene include structural constituent of eye lens and identical protein binding. An important paralog of this gene is HSPB1.

UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489
Function: Contributes to the transparency and refractive index of the lens. Has chaperone-like activity,
preventing aggregation of various proteins under a wide range of stress conditions

Gene Wiki entry for CRYAA 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000021.9  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRYAA gene promoter:
         CREB   deltaCREB   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CRYAA promoter sequence

   Search Chromatin IP Primers for CRYAA

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


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
CRYAA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYAA gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P044589:   GeneLoc Nature:405,311-319
Start:
44,589,118 bp from pter       30,136,479 bp from centromere
End:
44,592,915 bp from pter 30,140,239 bp from centromere
Size:
3,798 bases 3,761 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: U05569
genomic clones: KB2007G4


(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489 (See protein sequence)
Recommended Name: Alpha-crystallin A chain  
Size: 173 amino acids; 19909 Da
Subunit: Heteropolymer composed of three CRYAA and one CRYAB subunits. Inter-subunit bridging via zinc ions
enhances stability, which is crucial as there is no protein turn over in the lens. Can also form homodimers and
higher homooligomers. Age-dependent C-terminal truncation affects oligomerization
Mass spectrometry: Mass=19950; Method=Electrospray; Range=1-173; Source=PubMed:8175657;
Mass spectrometry: Mass=19863; Method=Electrospray; Range=1-172; Source=PubMed:8175657;
Mass spectrometry: Mass=20029; Method=Electrospray; Range=1-173; Note=With 1 phosphate group;
Source=PubMed:8175657;
Mass spectrometry: Mass=19951; Method=Electrospray; Range=1-173; Source=PubMed:9655350;
Mass spectrometry: Mass=19864; Method=Electrospray; Range=1-172; Source=PubMed:9655350;
Mass spectrometry: Mass=19947; Method=Electrospray; Range=1-173; Source=PubMed:10930324;
Mass spectrometry: Mass=19851; Method=Electrospray; Range=1-172; Source=PubMed:10930324;
Secondary accessions: Q53X53

Explore the universe of human proteins at neXtProt for CRYAA: NX_P02489

Explore proteomics data for CRYAA at MOPED

Post-translational modifications: 

  • O-glycosylated; contains N-acetylglucosamine side chains1
  • Deamidation of Asn-101 in lens occurs mostly during the first 30 years of age, followed by a small additional
    amount of deamidation (approximately 5%) during the next approximately 38 years, resulting in a maximum of
    approximately 50% deamidation during the lifetime of the individual1
  • Phosphorylation on Ser-122 seems to be developmentally regulated. Absent in the first months of life, it appears
    during the first 12 years of human lifetime. The relative amount of phosphorylated form versus unphosphorylated
    form does not change over the lifetime of the individual1
  • Acetylation at Lys-70 seems to increase chaperone activity1
  • Undergoes age-dependent proteolytical cleavage at the C-terminus. Alpha-crystallin A(1-172) is the most
    predominant form produced most rapidly during the first 12 years of age and after this age is present in
    approximatley 50% of the lens molecules1
  • Glycosylation2 at Ser162
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000385.1  
    ENSEMBL proteins: 
     ENSP00000291554   ENSP00000381201   ENSP00000381200  

    CRYAA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for CRYAA
    OriGene Purified Protein for CRYAA
    OriGene Protein Over-expression Lysate for CRYAA
    OriGene MassSpec for CRYAA
    OriGene Custom Protein Services for CRYAA
    GenScript Custom Purified and Recombinant Proteins Services for CRYAA
    Novus Biologicals CRYAA Proteins
    Novus Biologicals CRYAA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CRYAA
    Browse Proteins at Cloud-Clone Corp.

    CRYAA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CRYAA (AlphaA Crystallin/CRYAA)
    OriGene Antibodies for CRYAA
    OriGene Custom Antibody Services for CRYAA
    Novus Biologicals CRYAA Antibodies
    Abcam antibodies for CRYAA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CRYAA
    LSBio Antibodies in human, mouse, rat for CRYAA

    CRYAA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CRYAA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CRYAA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    HSPB: Heat shock proteins / HSPB

    5 InterPro protein domains:
     IPR002068 a-crystallin/Hsp20_dom
     IPR012274 Alpha-crystallin_A
     IPR008978 HSP20-like_chaperone
     IPR001436 Alpha-crystallin/HSP
     IPR003090 Alpha-crystallin_N

    Graphical View of Domain Structure for InterPro Entry P02489

    ProtoNet protein and cluster: P02489

    2 Blocks protein domains:
    IPB001436 Alpha crystallin signature
    IPB002068 Heat shock protein Hsp20


    UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489
    Similarity: Belongs to the small heat shock protein (HSP20) family


    CRYAA for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRYAA_HUMAN, P02489
    Function: Contributes to the transparency and refractive index of the lens. Has chaperone-like activity,
    preventing aggregation of various proteins under a wide range of stress conditions

         Genatlas biochemistry entry for CRYAA:
    crystallin,alpha polypeptide (alphaA),potentially involved in chaperone activity and maintenance of cytoskeletal
    network in muscle,alpha crystallin/small hsp family

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens IEA--
    GO:0005515protein binding IPI11700327
    GO:0042802identical protein binding IPI12601044
    GO:0046872metal ion binding IEA--
    GO:0051082unfolded protein binding IPI8943244
         
    CRYAA for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CRYAA:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Cryaa):
     cellular  vision/eye 

    CRYAA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cryaatm1Wawr for CRYAA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRYAA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CRYAA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRYAA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRYAA

    miRNA
    Products:
        
    miRTarBase miRNAs that target CRYAA:
    hsa-mir-26b-5p (MIRT030179), hsa-mir-34a-5p (MIRT025225)

    Block miRNA regulation of human, mouse, rat CRYAA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CRYAA:
    hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidCRYAA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CRYAA
    Predesigned siRNA for gene silencing in human, mouse, rat CRYAA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CRYAA

    Clone
    Products:
         
    OriGene clones in human, mouse for CRYAA (see all 6)
    OriGene ORF clones in mouse, rat for CRYAA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CRYAA (NM_000394)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRYAA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYAA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CRYAA
    Browse ESI BIO Cell Lines and PureStem Progenitors for CRYAA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYAA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CRYAA_HUMAN, P02489: Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in
    sub-nuclear structures known as SC35 speckles or nuclear splicing speckles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19464326
    GO:0005737cytoplasm IDA14752512

    CRYAA for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CRYAA About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CRYAA
        Regulation of degradation of deltaF508 CFTR in CF


    1 Kegg Pathway  (Kegg details for CRYAA):
        Protein processing in endoplasmic reticulum


    CRYAA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CRYAA: 
              Apoptosis 384HT in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CRYAA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for CRYAA (P024891, 2, 3 ENSP000002915544) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYGCP073151, 2, 3, ENSP000002821414EBI-6875961,EBI-6875941 MINT-14643 MINT-14642 MINT-14641 I2D: score=3 STRING: ENSP00000282141
    CRYBB2P433202, 3MINT-14200 MINT-14199 MINT-14201 I2D: score=4 
    HSPB1P047922, 3, ENSP000002485534MINT-16434 I2D: score=4 STRING: ENSP00000248553
    CRYAAP024891, 2EBI-6875961,EBI-6875961 MINT-8283288
    CRYABP025111, 2, 3, ENSP000002272514EBI-6875961,EBI-739060 MINT-17438 MINT-17439 MINT-8286941 MINT-17437 MINT-8408080 I2D: score=4 STRING: ENSP00000227251
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000072M phase specific microtubule process ----
    GO:0001666response to hypoxia IEA--
    GO:0001934positive regulation of protein phosphorylation IEA--
    GO:0002088lens development in camera-type eye ----
    GO:0002089lens morphogenesis in camera-type eye ----

    CRYAA for ontologies           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRYAA

    Selected Novoseek inferred chemical compound relationships for CRYAA gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mp 26 76.1 3 10569167 (2), 1483508 (1)
    methylglyoxal 62.6 29 18344542 (3), 19020808 (3), 20085807 (3), 17941823 (2) (see all 7)
    3-hydroxykynurenine 56 4 10089824 (1), 8405181 (1), 16460031 (1)
    methionine sulfoxide 55.7 4 15042443 (1), 9068373 (1), 11594064 (1)
    succinimide 49.7 1 7852288 (1)
    cysteine 43.1 14 11162107 (2), 19020808 (2), 11123904 (1), 9296605 (1) (see all 11)
    8-anilino-1-naphthalenesulfonic acid 40.5 2 9045637 (1), 10574947 (1)
    kynurenine 36.2 1 10089824 (1)
    citrate 34.3 3 18344542 (1), 19862354 (1), 16584192 (1)
    arginine 34.2 9 18344542 (2), 16584192 (2), 19390652 (1), 17149363 (1) (see all 7)



    CRYAA for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CRYAA gene: 
    NM_000394.3  

    Unigene Cluster for CRYAA:

    Crystallin, alpha A
    Hs.184085  [show with all ESTs]
    Unigene Representative Sequence: X14789
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291554(uc002zdd.1) ENST00000482775 ENST00000398133 ENST00000398132
    ENST00000468016
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CRYAA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CRYAA:
    hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidCRYAA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CRYAA
    Predesigned siRNA for gene silencing in human, mouse, rat CRYAA
    Clone
    Products:
         
    OriGene clones in human, mouse for CRYAA (see all 6)
    OriGene ORF clones in mouse, rat for CRYAA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CRYAA (NM_000394)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRYAA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYAA
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CRYAA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRYAA
      QuantiTect SYBR Green Assays in human, mouse, rat CRYAA
      QuantiFast Probe-based Assays in human, mouse, rat CRYAA

    Additional mRNA sequence: 

    BC069528.1 BC113598.1 CR407691.1 L25781.1 U05569.1 U66584.1 X14789.1 

    5 DOTS entries:

    DT.212828  DT.100748820  DT.212827  DT.95369054  DT.95369056 

    Selected AceView cDNA sequences (see all 347):

    BU734787 BF726253 BM710837 BM671946 BM688937 BM696477 BM706160 BM664316 
    BU734947 BU734642 BM696679 BU734843 BU735114 BF727264 BM679127 BU734884 
    BU735458 BQ636140 BM697130 BU735189 BM705808 BU737017 BM697099 BF727002 

    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)
    About This Section

    TryGeneCards Plus

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


    CRYAA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Secondary Lens Fiber Cells Lens
             Lens
     
     Epithelial Cells
             Secondary Lens Fiber Cells Lens
    CRYAA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRYAA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.184085

    UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489
    Tissue specificity: Expressed in eye lens

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CRYAA: 
              Apoptosis 384HT in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CRYAA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRYAA
    QuantiTect SYBR Green Assays in human, mouse, rat CRYAA
    QuantiFast Probe-based Assays in human, mouse, rat CRYAA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYAA

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CRYAA gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cryaa1 , 5 crystallin, alpha A1, 5 88.44(n)1
    94.8(a)1
      17 (17.09 cM)5
    129541  NM_013501.31  NP_038529.11 
     316779455 
    chicken
    (Gallus gallus)
    Aves CRYAA1 crystallin, alpha A 78.61(n)
    83.24(a)
      418546  NM_001030797.2  NP_001025968.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRYAA6
    crystallin, alpha A
    80(a)
    1 ↔ 1
    3(137146449-137151667)
    African clawed frog
    (Xenopus laevis)
    Amphibia D88185.12   -- 78.19(n)    D88185.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cryaa2 crystallin, alpha A 77.2(n)   245947  AY035778.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0055481 AgaP_AGAP005548 54(n)
    46.67(a)
      1276232  XM_315550.4  XP_315550.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CRYAA gene
    LOC102724652  HSPB12  CRYAB2  HSPB22  HSPB82  HSPB2-C11orf522  HSPB62  HSPB32  
    5 SIMAP similar genes for CRYAA using alignment to 4 protein entries:     CRYAA_HUMAN (see all proteins):
    CRYAB    HSPB6    HSPB3    HSPB1    HSPB2

    CRYAA for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CRYAA (see all 216)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700324
    Cataract 9, multiple types (CTRCT9)4--see VAR_0700322 R C mis40--------
    VAR_0468924
    Cataract 9, multiple types (CTRCT9)4--see VAR_0468922 R L mis40--------
    VAR_0383754
    Cataract 9, multiple types (CTRCT9)4--see VAR_0383752 R C mis40--------
    VAR_0365644
    A breast cancer sample4--see VAR_0365642 D H mis40--------
    VAR_0038194
    Cataract 9, multiple types (CTRCT9)4--see VAR_0038192 R C mis40--------
    VAR_0468934
    Cataract 9, multiple types (CTRCT9)4--see VAR_0468932 R H mis40--------
    rs743154401,2
    Cpathogenic135088569(+) CCCTGA/GTTCAA 2 * W stg10--------
    rs743154411,2
    Cpathogenic135088687(+) ACTACC/TGCCAG 2 R C mis10--------
    rs743154391,2
    Cpathogenic135091548(+) TCCACC/TGCCGC 2 R C mis10--------
    rs8723311,2
    C,F,O,A,Huntested135088548(+) ATGGAT/CGTGAC 2 /D syn1 ese329Minor allele frequency- C:0.40MN NS EA NA WA CSA EU 8441

    HapMap Linkage Disequilibrium report for CRYAA (44589118 - 44592915 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CRYAA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666871CNV Deletion23128226
    nsv3535CNV Insertion18451855
    nsv509798CNV Insertion20534489
    nsv913831CNV Loss21882294
    nsv913832CNV Loss21882294
    nsv913828CNV Loss21882294
    nsv913812CNV Gain21882294

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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRYAA
    DNA2.0 Custom Variant and Variant Library Synthesis for CRYAA

    (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

    TryGeneCards Plus
    OMIM gene information: 123580   
    OMIM disorders: 604219  
    UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489
  • Note=Alpha-crystallin A 1-172 is found at nearly twofold higher levels in diabetic lenses than in
    age-matched control lenses (PubMed:12356833)
  • Cataract 9, multiple types (CTRCT9) [MIM:604219]: 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. CTRCT9 includes nuclear, zonular central nuclear, anterior
    polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases
    cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined
    by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for CRYAA (see all 32):    
    About MalaCards
    cataract 9, multiple types    presbyopia    cataract, autosomal recessive congenital 1    cataracts, autosomal recessive
    cataract microcornea syndrome    cataract    cataract 23    cataract, zonular
    cataracts, autosomal dominant    cataract 4, multiple types    cataract 1, multiple types    senile cataract
    sympathetic ophthalmia    cataract, congenital    pandas    primary open angle glaucoma
    open-angle glaucoma    coloboma    microphthalmia    eye disease

    3 diseases from the University of Copenhagen DISEASES database for CRYAA:
    Microphthalmia     Blindness     Senile cataract

    CRYAA for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for CRYAA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cataract, autosomal dominant 86.5 3 18199971 (1), 18302245 (1), 19503744 (1)
    congenital cataract 82.2 14 10684623 (2), 19390652 (2), 11123904 (1), 17937925 (1) (see all 10)
    cataract 78.5 38 18700785 (3), 19860667 (2), 16728471 (2), 18056999 (2) (see all 25)
    nuclear cataract 69.9 1 19390652 (1)
    shock 59 20 18056999 (2), 12646227 (1), 15722220 (1), 16080680 (1) (see all 16)
    retinoblastoma 31.8 6 19204237 (2), 18812387 (2)
    microphthalmia 22.9 1 17277743 (1)
    tumors 2.89 7 19204237 (2), 8603844 (1), 19787585 (1), 10967101 (1)

    Genetic Association Database (GAD): CRYAA
    Human Genome Epidemiology (HuGE) Navigator: CRYAA (2 documents)

    Export disorders for CRYAA 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

    TryGeneCards Plus

    PubMed articles for CRYAA gene, integrated from 10 sources (see all 274):
    (articles sorted by number of sources associating them with CRYAA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin. (PubMed id 18754677)1, 2, 9 Chaves J.M....Srivastava O.P. (Biochemistry 2008)
    2. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. (PubMed id 14512969)1, 2, 9 Mackay D.S.... Shiels A. (Eur. J. Hum. Genet. 2003)
    3. Differential phosphorylation of alpha-A crystallin in human lens of different age. (PubMed id 8759518)1, 2, 9 Takemoto L.J. (Exp. Eye Res. 1996)
    4. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. (PubMed id 18407550)1, 2, 9 Gu F.... Ma X. (Hum. Mutat. 2008)
    5. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). (PubMed id 18302245)1, 2, 9 Richter L.... Bateman J.B. (Am. J. Med. Genet. A 2008)
    6. C-Terminal truncation affects subunit exchange of human alphaA-crystallin with alphaB-crystallin. (PubMed id 17909943)1, 2, 9 Kallur L.S....Abraham E.C. (Mol. Cell. Biochem. 2008)
    7. In vivo acetylation identified at lysine 70 of human lens alphaA- crystallin. (PubMed id 9655350)1, 2, 9 Lin P.P.... Smith J.B. (Protein Sci. 1998)
    8. Enhanced C-terminal truncation of alphaA- and alphaB-crystallins in diabetic lenses. (PubMed id 12356833)1, 2, 9 Thampi P....Abraham E.C. (amp 2002)
    9. A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. (PubMed id 19595763)1, 4, 9 Bhagyalaxmi S.G....Padma T. (Biochim. Biophys. Acta 2009)
    10. Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. (PubMed id 11123904)1, 2, 9 Cobb B.A. and Petrash J.M. (Biochemistry 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 1409 HGNC: 2388 AceView: CRYAA Ensembl:ENSG00000160202 euGenes: HUgn1409
    ECgene: CRYAA Kegg: 1409 H-InvDB: CRYAA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CRYAA Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for CRYAA gene:
    Search GeneIP for patents involving CRYAA

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for CRYAA (AlphaA Crystallin/CRYAA)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CRYAA   OriGene RNAi products in human, mouse, rat for CRYAA  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CRYAA  
     OriGene MassSpec something-or-other for CRYAA   OriGene clones in human, mouse for CRYAA  
     OriGene qSTAR qPCR primer pairs in human, mouse for CRYAA   OriGene Purified Protein for CRYAA  
     OriGene ORF clones in mouse, rat for CRYAA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CRYAA   OriGene Custom Protein Services for CRYAA  

     
     
     Block miRNA regulation of human, mouse, rat CRYAA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CRYAA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRYAA Predesigned siRNA for gene silencing in human, mouse, rat CRYAA
     QuantiFast Probe-based Assays in human, mouse, rat CRYAA QuantiTect SYBR Green Assays in human, mouse, rat CRYAA
     PCR Arrays including human, mouse, rat CRYAA Search Chromatin IP Primers for CRYAA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRYAA  GeneGlobe Interaction Network for CRYAA
     Regulatory tfbs in CRYAA promoter
     GenScript Custom Purified and Recombinant Proteins Services for CRYAA GenScript cDNA clones with any tag delivered in your preferred vector for CRYAA
     GenScript Custom Assay Services for CRYAA GenScript Custom overexpressing Cell Line Services for CRYAA
     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

     Search Tocris compounds for CRYAA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Proteins for CRYAA
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CRYAA antibodies
     CRYAA proteins
     CRYAA lysates
     Antibodies for CRYAA
     See all of Abcam's Antibodies, Kits and Proteins for CRYAA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for CRYAA
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for CRYAA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYAA
     SwitchGear 3'UTR luciferase reporter plasmids for CRYAA
     SwitchGear Promoter luciferase reporter plasmids for CRYAA
     ThermoFisher Antibodies for CRYAA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRYAA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRYAA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CRYAA
     LSBio Antibodies in human, mouse, rat for CRYAA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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      CRYAA gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4