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Aliases for CRYAA Gene

Aliases for CRYAA Gene

  • Crystallin Alpha A 2 3 5
  • Heat Shock Protein Beta-4 3 4
  • Crystallin, Alpha A 2 3
  • CRYA1 3 4
  • HSPB4 3 4
  • Human AlphaA-Crystallin (CRYA1) 3
  • Alpha Crystallin A Chain 3
  • Crystallin, Alpha-1 3
  • CTRCT9 3

External Ids for CRYAA Gene

Previous HGNC Symbols for CRYAA Gene

  • CRYA1

Previous GeneCards Identifiers for CRYAA Gene

  • GC21P041136
  • GC21P043483
  • GC21P043462
  • GC21P044589
  • GC21P030007

Summaries for CRYAA Gene

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 Cataract Microcornea Syndrome. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Protein processing in endoplasmic reticulum. GO annotations related to this gene include identical protein binding and structural constituent of eye lens. An important paralog of this gene is HSPB6.

UniProtKB/Swiss-Prot for CRYAA Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYAA Gene

Genomics for CRYAA Gene

Regulatory Elements for CRYAA Gene

Enhancers for CRYAA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CRYAA on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYAA Gene

43,169,008 bp from pter
43,172,810 bp from pter
3,803 bases
Plus strand

Genomic View for CRYAA Gene

Genes around CRYAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYAA Gene

Proteins for CRYAA Gene

  • Protein details for CRYAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha-crystallin A chain
    Protein Accession:
    Secondary Accessions:
    • Q53X53

    Protein attributes for CRYAA Gene

    173 amino acids
    Molecular mass:
    19909 Da
    Quaternary structure:
    • 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.

neXtProt entry for CRYAA Gene

Proteomics data for CRYAA Gene at MOPED

Post-translational modifications for CRYAA Gene

  • Acetylation at Lys-70 seems to increase chaperone activity.
  • 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.
  • O-glycosylated; contains N-acetylglucosamine side chains.
  • 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.
  • 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 molecules.
  • Glycosylation at Ser 162
  • Modification sites at PhosphoSitePlus

Other Protein References for CRYAA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYAA Gene

Domains & Families for CRYAA Gene

Gene Families for CRYAA Gene

Suggested Antigen Peptide Sequences for CRYAA Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the small heat shock protein (HSP20) family.
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with CRYAA: view

Function for CRYAA Gene

Molecular function for CRYAA Gene

GENATLAS Biochemistry:
crystallin,alpha polypeptide (alphaA),potentially involved in chaperone activity and maintenance of cytoskeletal network in muscle,alpha crystallin/small hsp family
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
genes like me logo Genes that share ontologies with CRYAA: view
genes like me logo Genes that share phenotypes with CRYAA: view

Human Phenotype Ontology for CRYAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CRYAA Gene

miRTarBase miRNAs that target CRYAA

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CRYAA Gene

Localization for CRYAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRYAA Gene

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

Jensen Localization Image for CRYAA Gene COMPARTMENTS Subcellular localization image for CRYAA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 14752512
genes like me logo Genes that share ontologies with CRYAA: view

Pathways & Interactions for CRYAA Gene

genes like me logo Genes that share pathways with CRYAA: view

Pathways by source for CRYAA Gene

1 KEGG pathway for CRYAA Gene
1 GeneGo (Thomson Reuters) pathway for CRYAA Gene

Gene Ontology (GO) - Biological Process for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032387 negative regulation of intracellular transport IDA 14752512
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CRYAA: view

No data available for SIGNOR curated interactions for CRYAA Gene

Drugs & Compounds for CRYAA Gene

(13) Drugs for CRYAA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for CRYAA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CRYAA: view

Transcripts for CRYAA Gene

Unigene Clusters for CRYAA Gene

Crystallin, alpha A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRYAA Gene

No ASD Table

Relevant External Links for CRYAA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRYAA Gene

mRNA expression in normal human tissues for CRYAA Gene

mRNA differential expression in normal tissues according to GTEx for CRYAA Gene

This gene is overexpressed in Kidney - Cortex (x40.4) and Liver (x11.2).

Protein differential expression in normal tissues from HIPED for CRYAA Gene

This gene is overexpressed in Vitreous humor (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYAA Gene

SOURCE GeneReport for Unigene cluster for CRYAA Gene Hs.184085

mRNA Expression by UniProt/SwissProt for CRYAA Gene

Tissue specificity: Expressed in eye lens.
genes like me logo Genes that share expression patterns with CRYAA: view

Protein tissue co-expression partners for CRYAA Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CRYAA Gene

Orthologs for CRYAA Gene

This gene was present in the common ancestor of animals.

Orthologs for CRYAA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CRYAA 35
  • 90.75 (n)
  • 94.22 (a)
  • 94 (a)
(Canis familiaris)
Mammalia CRYAA 35
  • 90.56 (n)
  • 92.49 (a)
  • 92 (a)
(Mus musculus)
Mammalia Cryaa 35
  • 88.44 (n)
  • 94.8 (a)
Cryaa 36
  • 84 (a)
(Pan troglodytes)
Mammalia CRYAA 35
  • 99.61 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Cryaa 35
  • 89.4 (n)
  • 94.8 (a)
(Monodelphis domestica)
Mammalia CRYAA 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia CRYAA 36
  • 74 (a)
(Gallus gallus)
Aves CRYAA 35
  • 78.61 (n)
  • 83.24 (a)
  • 83 (a)
(Anolis carolinensis)
Reptilia CRYAA 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488185 35
  • 74.9 (n)
  • 75.29 (a)
(Danio rerio)
Actinopterygii cryaa 35
  • 74.12 (n)
  • 74.71 (a)
cryaa 35
cryaa 36
  • 73 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005548 35
  • 54 (n)
  • 46.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 36
  • 34 (a)
Species with no ortholog for CRYAA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYAA Gene

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

Paralogs for CRYAA Gene

(5) SIMAP similar genes for CRYAA Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CRYAA: view

Variants for CRYAA Gene

Sequence variations from dbSNP and Humsavar for CRYAA Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_003819 Cataract 9, multiple types (CTRCT9)
VAR_036564 A breast cancer sample
VAR_038375 Cataract 9, multiple types (CTRCT9)
VAR_046892 Cataract 9, multiple types (CTRCT9)
VAR_046893 Cataract 9, multiple types (CTRCT9)

Structural Variations from Database of Genomic Variants (DGV) for CRYAA Gene

Variant ID Type Subtype PubMed ID
esv2666871 CNV Deletion 23128226
nsv913812 CNV Gain 21882294
nsv913828 CNV Loss 21882294
nsv913831 CNV Loss 21882294
nsv509798 CNV Insertion 20534489
nsv3535 CNV Insertion 18451855
nsv913832 CNV Loss 21882294

Variation tolerance for CRYAA Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYAA Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYAA Gene

Disorders for CRYAA Gene

MalaCards: The human disease database

(38) MalaCards diseases for CRYAA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 9, multiple types
  • cataract, autosomal recessive congenital 1
cataract microcornea syndrome
  • microcornea cataract syndrome
early-onset anterior polar cataract
  • early-onset anterior subcapsular cataract
early-onset lamellar cataract
total early-onset cataract
- elite association - COSMIC cancer census association via MalaCards
Search CRYAA in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:14512969, ECO:0000269 PubMed:16453125, ECO:0000269 PubMed:18302245, ECO:0000269 PubMed:18407550, ECO:0000269 PubMed:23508780, ECO:0000269 PubMed:9467006}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Alpha-crystallin A 1-172 is found at nearly twofold higher levels in diabetic lenses than in age-matched control lenses. {ECO:0000269 PubMed:12356833}.

Relevant External Links for CRYAA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CRYAA: view

No data available for Genatlas for CRYAA Gene

Publications for CRYAA Gene

  1. Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin. (PMID: 18754677) Chaves J.M. … Srivastava O.P. (Biochemistry 2008) 3 4 23 67
  2. Role of cysteine residues in the enhancement of chaperone function in methylglyoxal-modified human alpha A-crystallin. (PMID: 19020808) Kanade S.R. … Nagaraj R.H. (Mol. Cell. Biochem. 2009) 3 23
  3. Disulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallin. (PMID: 19071118) Kumar M.S. … Mchaourab H.S. (FEBS Lett. 2009) 3 23
  4. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. (PMID: 19390652) Santana A. … Barbosa de Melo M. (Mol. Vis. 2009) 3 23
  5. An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. (PMID: 19503744) Zhang L.Y. … Fan D.S. (Mol. Vis. 2009) 3 23

Products for CRYAA Gene

Sources for CRYAA Gene