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

CRYAA Gene

protein-coding   GIFtS: 63
GCID: GC21P044589

crystallin, alpha A


(Previous symbol: CRYA1)
 Explore 23 diseases affiliated with
CRYAA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CRYAA    

Aliases
for CRYAA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
Crystallin, Alpha A1 2     Heat Shock Protein Beta-42 3
CRYA11 2 3 5     Alpha-Crystallin A Chain2
HSPB41 2 3     Crystallin, Alpha-12
Human AlphaA-Crystallin (CRYA1)2 11     HspB43

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


Summaries
for CRYAA gene

(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:
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)

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


Genomic Views
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 69), 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  NC_018932.1  NT_011515.12  
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


Proteins
for CRYAA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02489

    • CRYAA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Browse Proteins at Uscn

    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



    CRYAA Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for CRYAA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CRYAA for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for CRYAA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYAA:
    hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmid: CRYAA 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for CRYAA

    In Situ Assay
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    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 IPI14752512
    GO:0042802identical protein binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0051082unfolded protein binding IPI8943244


    CRYAA for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Cryaatm1Wawr for CRYAA
         2 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Cryaa):
     cellular  vision/eye 

    CRYAA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CRYAA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    2Regulation of degradation of wt-CFTR
    		Regulation of degradation of deltaF508 CFTR in CF0.59

    Pathway sources
    See GeneCards unified pathways
    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): 5/26 biological process terms (GO ID links to tree view) (see all 26):    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



    Drugs & Compounds
    for CRYAA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CRYAA for compounds           About GeneDecksing

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

    Browse Tocris compounds for CRYAA
    10/24 Novoseek 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 

    Transcripts
    for CRYAA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYAA:
    hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmid: CRYAA 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    BE048679 BM678406 BM706237 BM705774 BM696995 BF727252 BF727324 BM697160 
    BM664332 BU734971 BF727170 BF726856 BM705409 BM696921 BM705622 BM705034 
    BU734843 BU734909 AI262258 BF726942 BU734974 BM716399 BM706000 BF726480 

    GeneLoc Exon Structure


    Expression
    for CRYAA gene

    (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
    CGAP TAG: AGAGCGCAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Assay Products:     
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    Orthologs
    for CRYAA gene

    (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 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 3(137147270-137151636)
    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 l(2)efl6
    CG74096
    (see all 9)    		 --
    		 32(a)
    25(a)
    (see all 9)    		 many ↔ many
    many ↔ many
    (see all 9)    		 2R(19572174-19573063)
    3L(7747509-7748268)


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

    Paralogs
    for CRYAA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRYAA gene
    HSPB12  CRYAB2  HSPB2-C11orf522  HSPB82  HSPB22  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



    Genomic Variants
    for CRYAA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/147 NCBI SNPs in CRYAA are shown (see all 147)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154401,2
    		Cpathogenic44589236(+) CCCTGA/GTTCAA 2 * W stg10--------
    rs743154411,2
    		Cpathogenic44589354(+) ACTACC/TGCCAG 2 R C mis10--------
    rs743154391,2
    		Cpathogenic44592214(+) TCCACC/TGCCGC 2 R C mis10--------
    rs8723311,2
    		C,F,O,A,H,untested44589215(+) ATGGAT/CGTGAC 2 /D syn1 ese329Minor allele frequency- C:0.40MN NS EA NA WA CSA EU 8441
    rs788623531,2
    		F,--44587257(+) GCGTTT/GCCTAT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1460577331,2
    		--44587325(+) GCAAAA/GGCTAT 1 -- us2k10--------
    rs1400425071,2
    		--44587355(+) ATCCTA/GTGTCC 1 -- us2k10--------
    rs1146115811,2
    		F,--44587422(+) TGGAGG/TTGCCC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1898885381,2
    		--44587426(+) GGTGCC/TCCGTG 1 -- us2k10--------
    rs1815248151,2
    		--44587449(+) GAGCCC/TCCCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRYAA (44589118 - 44592915 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CRYAA
         1 CNV: 35972
    Human Gene Mutation Database (HGMD): CRYAA

    Locus Specific Mutation Databases (LSDB): CRYAA

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CRYAA

    Disorders / Diseases
    for CRYAA gene

    (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
    CRYAA for disorders           About GeneDecksing

    OMIM gene information: 123580    OMIM disorders: --

    UniProtKB/Swiss-Prot: CRYAA_HUMAN, P02489
  • Defects in CRYAA are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is 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. Cataract is the most common
    treatable cause of visual disability in childhood

    20/23 diseases for CRYAA (see all 23):    About MalaCards
    cataract, zonular central nuclear, autosomal dominant    cataract    congenital cataracts    cataract, autosomal dominant nuclear
    open-angle glaucoma    cataracts, autosomal dominant    cataract, zonular    cataract, congenital, autosomal recessive
    primary open angle glaucoma    leber congenital amaurosis    cataract microcornea syndrome    presbyopia
    glaucoma    microphthalmia    eye disease    coloboma
    retinoblastoma    hermaphroditism    blindness    glioblastoma

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

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CRYAA (2 documents)

    Export disorders for CRYAA gene to outside databases

    Publications
    for CRYAA gene

    (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 257):
    (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. 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)
    5. 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)
    6. 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)
    7. HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326)1, 2 Vos M.J....Kampinga H.H. (2009)
    8. 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)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)

    External Searches for CRYAA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    Genome Databases showing CRYAA gene

    (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

    Other Databases showing CRYAA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CRYAA gene

    (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

    Intellectual Property
    for CRYAA gene

    (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

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