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CRYBB3 (crystallin, beta B3)

Identity

Alias_namesCRYB3
crystallin, beta B3
Other aliasCATCN2
CTRCT22
HGNC (Hugo) CRYBB3
LocusID (NCBI) 1417
Atlas_Id 62107
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 25595817 and ends at 25603326 bp from pter ( according to hg19-Feb_2009)

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)CRYBB3   2400
Cards
Entrez_Gene (NCBI)CRYBB3  1417  crystallin, beta B3
AliasesCATCN2; CRYB3; CTRCT22
GeneCards (Weizmann)CRYBB3
Ensembl hg19 (Hinxton)ENSG00000100053 [Gene_View]  chr22:25595817-25603326 [Contig_View]  CRYBB3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100053 [Gene_View]  chr22:25595817-25603326 [Contig_View]  CRYBB3 [Vega]
ICGC DataPortalENSG00000100053
TCGA cBioPortalCRYBB3
AceView (NCBI)CRYBB3
Genatlas (Paris)CRYBB3
WikiGenes1417
SOURCE (Princeton)CRYBB3
Genetics Home Reference (NIH)CRYBB3
Genomic and cartography
GoldenPath hg19 (UCSC)CRYBB3  -     chr22:25595817-25603326 +  22q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CRYBB3  -     22q11.23   [Description]    (hg38-Dec_2013)
EnsemblCRYBB3 - 22q11.23 [CytoView hg19]  CRYBB3 - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBICRYBB3 [Mapview hg19]  CRYBB3 [Mapview hg38]
OMIM123630   609741   
Gene and transcription
Genbank (Entrez)BC069479 BC102021 BC102022 BC107482 BF726163
RefSeq transcript (Entrez)NM_004076
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_009828 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)CRYBB3
Cluster EST : UnigeneHs.533022 [ NCBI ]
CGAP (NCI)Hs.533022
Alternative Splicing GalleryENSG00000100053
Gene ExpressionCRYBB3 [ NCBI-GEO ]   CRYBB3 [ EBI - ARRAY_EXPRESS ]   CRYBB3 [ SEEK ]   CRYBB3 [ MEM ]
Gene Expression Viewer (FireBrowse)CRYBB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1417
GTEX Portal (Tissue expression)CRYBB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26998   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP26998  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26998
Splice isoforms : SwissVarP26998
PhosPhoSitePlusP26998
Domaine pattern : Prosite (Expaxy)CRYSTALLIN_BETA_GAMMA (PS50915)   
Domains : Interpro (EBI)Beta/gamma_crystallin    G_crystallin-rel   
Domain families : Pfam (Sanger)Crystall (PF00030)   
Domain families : Pfam (NCBI)pfam00030   
Domain families : Smart (EMBL)XTALbg (SM00247)  
Conserved Domain (NCBI)CRYBB3
DMDM Disease mutations1417
Blocks (Seattle)CRYBB3
PDB (SRS)3QK3   
PDB (PDBSum)3QK3   
PDB (IMB)3QK3   
PDB (RSDB)3QK3   
Structural Biology KnowledgeBase3QK3   
SCOP (Structural Classification of Proteins)3QK3   
CATH (Classification of proteins structures)3QK3   
SuperfamilyP26998
Human Protein AtlasENSG00000100053
Peptide AtlasP26998
HPRD00431
IPIIPI00292238   IPI00880144   
Protein Interaction databases
DIP (DOE-UCLA)P26998
IntAct (EBI)P26998
FunCoupENSG00000100053
BioGRIDCRYBB3
STRING (EMBL)CRYBB3
ZODIACCRYBB3
Ontologies - Pathways
QuickGOP26998
Ontology : AmiGOstructural constituent of eye lens  protein binding  visual perception  
Ontology : EGO-EBIstructural constituent of eye lens  protein binding  visual perception  
NDEx NetworkCRYBB3
Atlas of Cancer Signalling NetworkCRYBB3
Wikipedia pathwaysCRYBB3
Orthology - Evolution
OrthoDB1417
GeneTree (enSembl)ENSG00000100053
Phylogenetic Trees/Animal Genes : TreeFamCRYBB3
HOVERGENP26998
HOGENOMP26998
Homologs : HomoloGeneCRYBB3
Homology/Alignments : Family Browser (UCSC)CRYBB3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYBB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYBB3
dbVarCRYBB3
ClinVarCRYBB3
1000_GenomesCRYBB3 
Exome Variant ServerCRYBB3
ExAC (Exome Aggregation Consortium)CRYBB3 (select the gene name)
Genetic variants : HAPMAP1417
Genomic Variants (DGV)CRYBB3 [DGVbeta]
DECIPHER (Syndromes)22:25595817-25603326  ENSG00000100053
CONAN: Copy Number AnalysisCRYBB3 
Mutations
ICGC Data PortalCRYBB3 
TCGA Data PortalCRYBB3 
Broad Tumor PortalCRYBB3
OASIS PortalCRYBB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYBB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRYBB3
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 CRYBB3
DgiDB (Drug Gene Interaction Database)CRYBB3
DoCM (Curated mutations)CRYBB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYBB3 (select a term)
intoGenCRYBB3
Cancer3DCRYBB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123630    609741   
Orphanet14005    14008   
MedgenCRYBB3
Genetic Testing Registry CRYBB3
NextProtP26998 [Medical]
TSGene1417
GENETestsCRYBB3
Huge Navigator CRYBB3 [HugePedia]
snp3D : Map Gene to Disease1417
BioCentury BCIQCRYBB3
ClinGenCRYBB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1417
Chemical/Pharm GKB GenePA26914
Clinical trialCRYBB3
Miscellaneous
canSAR (ICR)CRYBB3 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYBB3
EVEXCRYBB3
GoPubMedCRYBB3
iHOPCRYBB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:23 CET 2017

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