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

CRYAA Gene

protein-coding   GIFtS: 66
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

Aliases
Crystallin, Alpha A1 2     CTRCT92
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRYAA 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. 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 (sHSP also known as the 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. 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, Jul 2008)

GeneCards Summary for CRYAA Gene: 
CRYAA (crystallin, alpha A) is a protein-coding gene. Diseases associated with CRYAA include presbyopia, and cataract, autosomal recessive congenital 1, and among its related super-pathways are Regulation of degradation of wt-CFTR. 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: May contribute 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CRYAA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in
sub-nuclear structures known as SC35 speckles or nuclear splicing speckles
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:

  • UniProtKB: O-glycosylated; contains N-acetylglucosamine side chains
  • UniProtKB: 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 individual
  • UniProtKB: 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 individual
  • UniProtKB: Acetylation at Lys-70 seems to increase chaperone activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02489

  • CRYAA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRYAA Protein Expression
    REFSEQ proteins: NP_000385.1  
    ENSEMBL proteins: 
     ENSP00000291554   ENSP00000381201   ENSP00000381200  

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    ProSpec Recombinant Protein for CRYAA
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    CRYAA for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRYAA_HUMAN, P02489
    Function: May contribute 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for CRYAA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYAA
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYAA:
    hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidCRYAA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CRYAA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of wt-CFTR
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRYAA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/14 Interacting proteins for CRYAA (P024892, 3 ENSP000002915544) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYGCP073152, 3, ENSP000002821414MINT-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
    CRYABP025112, 3, ENSP000002272514MINT-17438 MINT-17439 MINT-8286941 MINT-17437 MINT-8408080 I2D: score=4 STRING: ENSP00000227251
    LALBAP007093, ENSP000003010464I2D: score=1 STRING: ENSP00000301046
    About this table

    Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000072M phase specific microtubule process IEA--
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CRYAA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CRYAA

    10/24 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)

    Search CenterWatch for drugs/clinical trials and news about CRYAA

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CRYAA gene: 
    NM_000394.2  

    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
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    Inhib. RNA
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    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 

    24/347 AceView cDNA sequences (see all 347):

    BM697673 BM705911 BF727002 BU737017 BF727170 BU740260 AI765910 BM705535 
    BM705409 BU735436 BU734864 BF726180 BM705546 BM697101 BM721940 BF726441 
    AI671484 BF726880 BM705859 BM697422 BM696689 BM697130 BM688937 BU740343 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See CRYAA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRYAA

    SOURCE GeneReport for Unigene cluster: Hs.184085
        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    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

    This gene was present in the common ancestor of animals.

    Orthologs for CRYAA gene from 7/13 species (see all 13)    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_013501.21  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
    Uncharacterized protein
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hsp67Ba6
    Hsp236
    (see all 8)
    Heat shock protein 23
    (see all 8)
    9(a)
    26(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    3L(9370902-9372634)
    3L(9374982-9375865)
    worm
    (Caenorhabditis elegans)
    Secernentea hsp-436
    hsp-176
    (see all 13)
    Protein HSP-17, isoform b
    (see all 13)
    8(a)
    27(a)
    (see all 13)
    many ↔ many
    many ↔ many
    (see all 13)
    X(6233149-6235541)
    V(8384774-8385927)


    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
    Paralogs for CRYAA gene
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/215 SNPs in CRYAA are shown (see all 215)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    rs788623531,2
    C,F--35086590(+) GCGTTT/GCCTAT 1 -- us2k11Minor allele frequency- G:0.03WA 118

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 123580    OMIM disorders: --

    UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489
  • 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

  • 20/22 diseases for CRYAA (see all 22):    About MalaCards
    presbyopia    cataract, autosomal recessive congenital 1    cataract, marner type    cataract, congenital nuclear, 2
    cataract    cataract microcornea syndrome    cataract, zonular    cataracts, autosomal dominant
    pandas    senile cataract    open-angle glaucoma    primary open angle glaucoma
    leber congenital amaurosis    microphthalmia    coloboma    eye disease
    glaucoma    retinoblastoma    blindness    hypoxia

    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

    PubMed articles for CRYAA gene, integrated from 9 sources (see all 266):
    (articles sorted by number of sources associating them with CRYAA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2003)
    2. Differential phosphorylation of alpha-A crystallin in human lens of different age. (PubMed id 8759518)1, 2, 9 Takemoto L.J. (1996)
    3. 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. (2008)
    4. 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. (2008)
    5. In vivo acetylation identified at lysine 70 of human lens alphaA- crystallin. (PubMed id 9655350)1, 2, 9 Lin P.P.... Smith J.B. (1998)
    6. A novel mutation (F71L) in alphaA-crystallin with def ective chaperone-like function associated with age-related cataract. (PubMed id 19595763)1, 4, 9 Bhagyalaxmi S.G....Padma T. (2009)
    7. 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. (2000)
    8. Acetylation of alphaA-crystallin in the human lens: effects on structure and chaperone function. (PubMed id 22120592)1, 2 Nagaraj R.H....Biswas A. (2012)
    9. HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326)1, 2 Vos M.J....Kampinga H.H. (2009)
    10. Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. (PubMed id 16453125)1, 2 Graw J.... Lorenz B. (2006)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1409 HGNC: 2388 AceView: CRYAA Ensembl:ENSG00000160202 euGenes: HUgn1409
    ECgene: CRYAA Kegg: 1409 H-InvDB: CRYAA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CRYAA Pharmacogenomics, SNPs, Pathways

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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