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CRYAA (crystallin alpha A)

Identity

Alias (NCBI)CRYA1
CTRCT9
HSPB4
HGNC (Hugo) CRYAA
HGNC Alias symbHSPB4
HGNC Previous nameCRYA1
HGNC Previous namecrystallin, alpha A
LocusID (NCBI) 1409
Atlas_Id 51650
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 43170236 and ends at 43172810 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CRYAA   2388
Cards
Entrez_Gene (NCBI)CRYAA  1409  crystallin alpha A
AliasesCRYA1; CTRCT9; HSPB4
GeneCards (Weizmann)CRYAA
Ensembl hg19 (Hinxton)ENSG00000160202 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160202 [Gene_View]  ENSG00000160202 [Sequence]  chr21:43170236-43172810 [Contig_View]  CRYAA [Vega]
ICGC DataPortalENSG00000160202
TCGA cBioPortalCRYAA
AceView (NCBI)CRYAA
Genatlas (Paris)CRYAA
WikiGenes1409
SOURCE (Princeton)CRYAA
Genetics Home Reference (NIH)CRYAA
Genomic and cartography
GoldenPath hg38 (UCSC)CRYAA  -     chr21:43170236-43172810 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYAA  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathCRYAA - 21q22.3 [CytoView hg19]  CRYAA - 21q22.3 [CytoView hg38]
ImmunoBaseENSG00000160202
genome Data Viewer NCBICRYAA [Mapview hg19]  
OMIM123580   604219   
Gene and transcription
Genbank (Entrez)BC113598 BE552434 BM679139 BX118596 CR407691
RefSeq transcript (Entrez)NM_000394 NM_001363766
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRYAA
Alternative Splicing GalleryENSG00000160202
Gene ExpressionCRYAA [ NCBI-GEO ]   CRYAA [ EBI - ARRAY_EXPRESS ]   CRYAA [ SEEK ]   CRYAA [ MEM ]
Gene Expression Viewer (FireBrowse)CRYAA [ Firebrowse - Broad ]
GenevisibleExpression of CRYAA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1409
GTEX Portal (Tissue expression)CRYAA
Human Protein AtlasENSG00000160202-CRYAA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02489   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02489  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02489
Splice isoforms : SwissVarP02489
PhosPhoSitePlusP02489
Domaine pattern : Prosite (Expaxy)SHSP (PS01031)   
Domains : Interpro (EBI)A-crystallin/Hsp20_dom    Alpha-crystallin/HSP    Alpha-crystallin_A    Alpha-crystallin_N    HSP20-like_chaperone   
Domain families : Pfam (Sanger)Crystallin (PF00525)    HSP20 (PF00011)   
Domain families : Pfam (NCBI)pfam00525    pfam00011   
Conserved Domain (NCBI)CRYAA
DMDM Disease mutations1409
Blocks (Seattle)CRYAA
PDB (RSDB)6T1R   
PDB Europe6T1R   
PDB (PDBSum)6T1R   
PDB (IMB)6T1R   
Structural Biology KnowledgeBase6T1R   
SCOP (Structural Classification of Proteins)6T1R   
CATH (Classification of proteins structures)6T1R   
SuperfamilyP02489
Human Protein Atlas [tissue]ENSG00000160202-CRYAA [tissue]
Peptide AtlasP02489
HPRD00427
IPIIPI00021062   IPI00984512   IPI00796777   IPI00795775   
Protein Interaction databases
DIP (DOE-UCLA)P02489
IntAct (EBI)P02489
FunCoupENSG00000160202
BioGRIDCRYAA
STRING (EMBL)CRYAA
ZODIACCRYAA
Ontologies - Pathways
QuickGOP02489
Ontology : AmiGOstructural molecule activity  structural constituent of eye lens  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  visual perception  negative regulation of intracellular transport  protein-containing complex  protein refolding  identical protein binding  negative regulation of apoptotic process  negative regulation of apoptotic process  metal ion binding  protein stabilization  response to stimulus  unfolded protein binding  unfolded protein binding  
Ontology : EGO-EBIstructural molecule activity  structural constituent of eye lens  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  visual perception  negative regulation of intracellular transport  protein-containing complex  protein refolding  identical protein binding  negative regulation of apoptotic process  negative regulation of apoptotic process  metal ion binding  protein stabilization  response to stimulus  unfolded protein binding  unfolded protein binding  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkCRYAA
Atlas of Cancer Signalling NetworkCRYAA
Wikipedia pathwaysCRYAA
Orthology - Evolution
OrthoDB1409
GeneTree (enSembl)ENSG00000160202
Phylogenetic Trees/Animal Genes : TreeFamCRYAA
HOGENOMP02489
Homologs : HomoloGeneCRYAA
Homology/Alignments : Family Browser (UCSC)CRYAA
Gene fusions - Rearrangements
Fusion : QuiverCRYAA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYAA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYAA
dbVarCRYAA
ClinVarCRYAA
1000_GenomesCRYAA 
Exome Variant ServerCRYAA
GNOMAD BrowserENSG00000160202
Varsome BrowserCRYAA
Genetic variants : HAPMAP1409
Genomic Variants (DGV)CRYAA [DGVbeta]
DECIPHERCRYAA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRYAA 
Mutations
ICGC Data PortalCRYAA 
TCGA Data PortalCRYAA 
Broad Tumor PortalCRYAA
OASIS PortalCRYAA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYAA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCRYAA
Mutations and Diseases : HGMDCRYAA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CRYAA
DgiDB (Drug Gene Interaction Database)CRYAA
DoCM (Curated mutations)CRYAA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYAA (select a term)
intoGenCRYAA
Cancer3DCRYAA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123580    604219   
Orphanet1584    23423    14005    14008    14011   
DisGeNETCRYAA
MedgenCRYAA
Genetic Testing Registry CRYAA
NextProtP02489 [Medical]
TSGene1409
GENETestsCRYAA
Target ValidationCRYAA
Huge Navigator CRYAA [HugePedia]
snp3D : Map Gene to Disease1409
BioCentury BCIQCRYAA
ClinGenCRYAA
Clinical trials, drugs, therapy
Protein Interactions : CTD1409
Pharm GKB GenePA26906
Clinical trialCRYAA
Miscellaneous
canSAR (ICR)CRYAA (select the gene name)
HarmonizomeCRYAA
DataMed IndexCRYAA
Probes
Litterature
PubMed188 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYAA
EVEXCRYAA
GoPubMedCRYAA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:09:10 CEST 2020

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