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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
  • CRYA1 3 4
  • HSPB4 3 4
  • Human AlphaA-Crystallin (CRYA1) 3
  • Alpha-Crystallin A Chain 3
  • Crystallin, Alpha A 2
  • 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 Protein processing in endoplasmic reticulum and Regulation of degradation of deltaF508 CFTR in CF. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of eye lens. An important paralog of this gene is CRYAA2.

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

Additional gene information for CRYAA Gene

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

Genomics for CRYAA Gene

GeneHancer (GH) Regulatory Elements for CRYAA Gene

Promoters and enhancers for CRYAA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I043168 Promoter 0.7 EPDnew 550.8 +0.0 6 0.1 ZNF316 MAFK EMSY CRYAA LOC105372821
GH21I043170 Enhancer 0.6 ENCODE 550.8 +1.1 1118 0.2 RXRA SAP130 NRF1 REST SKI HMBOX1 SMAD4 ZNF600 NR2F6 RXRB CRYAA LOC105372821
GH21I043158 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.5 -6.5 -6452 7.7 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B YBX1 DMAP1 IRF4 ENSG00000228120 WDR4 RRP1B U2AF1 ENSG00000233754 PWP2 SIK1 TRAPPC10 HSF2BP CRYAA
GH21I043338 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.8 +174.0 173986 8.3 HDGF PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A YBX1 SLC30A9 ZNF207 U2AF1 WDR4 ENSG00000233754 SIK1 PWP2 CSTB PKNOX1 CRYAA LINC00322 LINC01679
GH21I043171 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.8 +3.7 3667 3.2 PKNOX1 ATF1 ZFP64 ARID4B DMAP1 ZBTB7B GLIS2 RUNX3 ZNF202 ZNF263 RRP1B WDR4 PWP2 U2AF1 ENSG00000233754 LINC01678 CRYAA LOC105372821
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRYAA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYAA gene promoter:

Genomic Locations for CRYAA Gene

Genomic Locations for CRYAA Gene
chr21:43,169,008-43,172,810
(GRCh38/hg38)
Size:
3,803 bases
Orientation:
Plus strand
chr21:44,589,118-44,592,915
(GRCh37/hg19)

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:
    P02489-CRYAA_HUMAN
    Recommended name:
    Alpha-crystallin A chain
    Protein Accession:
    P02489
    Secondary Accessions:
    • Q53X53

    Protein attributes for CRYAA Gene

    Size:
    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

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 approximately 50% of the lens molecules.
  • Glycosylation at Ser162

Other Protein References for CRYAA Gene

No data available for DME Specific Peptides for CRYAA Gene

Domains & Families for CRYAA Gene

Gene Families for CRYAA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CRYAA Gene

Graphical View of Domain Structure for InterPro Entry

P02489

UniProtKB/Swiss-Prot:

CRYAA_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
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.

Phenotypes From GWAS Catalog for CRYAA Gene

Gene Ontology (GO) - Molecular Function for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 11700327
GO:0042802 identical protein binding IPI 12601044
GO:0046872 metal ion binding IEA --
GO:0051082 unfolded protein binding IPI 8943244
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYAA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19464326
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 14752512
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome IDA,HDA 23376485
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:0007601 visual perception IMP 9467006
GO:0032387 negative regulation of intracellular transport IDA 14752512
GO:0042026 NOT protein refolding ISS --
GO:0043066 negative regulation of apoptotic process IMP,IDA 14512969
GO:0050821 protein stabilization IMP 12235146
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

(14) Drugs for CRYAA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CRYAA

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

No ASD Table

Relevant External Links for CRYAA Gene

GeneLoc Exon Structure for
CRYAA
ECgene alternative splicing isoforms for
CRYAA

Expression for CRYAA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CRYAA Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYAA Gene:

CRYAA

SOURCE GeneReport for Unigene cluster for CRYAA Gene:

Hs.184085

mRNA Expression by UniProt/SwissProt for CRYAA Gene:

P02489-CRYAA_HUMAN
Tissue specificity: Expressed in eye lens.

Evidence on tissue expression from TISSUES for CRYAA Gene

  • Eye(5)
  • Intestine(4)
  • Spleen(4)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYAA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYAA: view

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
chimpanzee
(Pan troglodytes)
Mammalia CRYAA 33 34
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia CRYAA 33 34
  • 90.75 (n)
dog
(Canis familiaris)
Mammalia CRYAA 33 34
  • 90.56 (n)
rat
(Rattus norvegicus)
Mammalia Cryaa 33
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Cryaa 33 34
  • 88.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CRYAA 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYAA 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYAA 33 34
  • 78.61 (n)
lizard
(Anolis carolinensis)
Reptilia CRYAA 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488185 33
  • 74.9 (n)
zebrafish
(Danio rerio)
Actinopterygii cryaa 33 33 34
  • 74.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005548 33
  • 54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 34
  • 34 (a)
OneToMany
Species where no ortholog for CRYAA was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for CRYAA (if available)
TreeFam:
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 Variation AA Info Type
rs112855370 likely-benign, Congenital cataract 43,172,373(+) T/G 3_prime_UTR_variant
rs121912973 pathogenic, Cataract, autosomal dominant, multiple types, with microcornea, Cataract, autosomal dominant, not provided, Cataract 9, multiple types (CTRCT9) [MIM:604219] 43,172,105(+) G/A coding_sequence_variant, missense_variant
rs13048089 likely-benign, Congenital cataract 43,172,765(+) G/A/T 3_prime_UTR_variant
rs143992484 uncertain-significance, Congenital cataract 43,172,222(+) C/A coding_sequence_variant, missense_variant
rs146914780 uncertain-significance, Congenital cataract 43,169,253(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2666871 CNV deletion 23128226
nsv1056684 CNV gain 25217958
nsv1067412 CNV gain 25217958
nsv3535 CNV insertion 18451855
nsv509798 CNV insertion 20534489
nsv587664 CNV loss 21841781
nsv953638 CNV deletion 24416366

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)

Additional Variant Information for CRYAA Gene

Human Gene Mutation Database (HGMD)
CRYAA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYAA

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

Disorders for CRYAA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cataract 9, multiple types
  • ctrct9
cataract microcornea syndrome
  • microcornea cataract syndrome
cataract 24
  • ctrct24
cataract 44
  • ctrct44
cataract 16, multiple types
  • ctrct16
- elite association - COSMIC cancer census association via MalaCards
Search CRYAA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRYAA_HUMAN
  • 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:11123904, 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}.

Additional Disease Information for CRYAA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. (PMID: 19595763) Bhagyalaxmi SG … Padma T (Biochimica et biophysica acta 2009) 3 22 44 58
  2. C-Terminal truncation affects subunit exchange of human alphaA-crystallin with alphaB-crystallin. (PMID: 17909943) Kallur LS … Abraham EC (Molecular and cellular biochemistry 2008) 3 4 22 58
  3. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). (PMID: 18302245) Richter L … Bateman JB (American journal of medical genetics. Part A 2008) 3 4 22 58
  4. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. (PMID: 18407550) Gu F … Ma X (Human mutation 2008) 3 4 22 58
  5. Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin. (PMID: 18754677) Chaves JM … Srivastava OP (Biochemistry 2008) 3 4 22 58

Products for CRYAA Gene

  • Addgene plasmids for CRYAA

Sources for CRYAA Gene

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