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CRYBB2 (crystallin beta B2)

Identity

Alias_namesCCA2
CRYB2A
CRYB2
crystallin
Other aliasCTRCT3
D22S665
HGNC (Hugo) CRYBB2
LocusID (NCBI) 1415
Atlas_Id 55362
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 25219645 and ends at 25231869 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CRYBB2 (22q11.23) / FAH (15q25.1)CRYBB2 (22q11.23) / SHB (9p13.2)

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)CRYBB2   2398
Cards
Entrez_Gene (NCBI)CRYBB2  1415  crystallin beta B2
AliasesCCA2; CRYB2; CRYB2A; CTRCT3; 
D22S665
GeneCards (Weizmann)CRYBB2
Ensembl hg19 (Hinxton)ENSG00000244752 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244752 [Gene_View]  chr22:25219645-25231869 [Contig_View]  CRYBB2 [Vega]
ICGC DataPortalENSG00000244752
TCGA cBioPortalCRYBB2
AceView (NCBI)CRYBB2
Genatlas (Paris)CRYBB2
WikiGenes1415
SOURCE (Princeton)CRYBB2
Genetics Home Reference (NIH)CRYBB2
Genomic and cartography
GoldenPath hg38 (UCSC)CRYBB2  -     chr22:25219645-25231869 +  22q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYBB2  -     22q11.23   [Description]    (hg19-Feb_2009)
EnsemblCRYBB2 - 22q11.23 [CytoView hg19]  CRYBB2 - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBICRYBB2 [Mapview hg19]  CRYBB2 [Mapview hg38]
OMIM123620   601547   
Gene and transcription
Genbank (Entrez)BC069535 BF847403 BM667912 CR456426 CU012987
RefSeq transcript (Entrez)NM_000496
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRYBB2
Cluster EST : UnigeneHs.373074 [ NCBI ]
CGAP (NCI)Hs.373074
Alternative Splicing GalleryENSG00000244752
Gene ExpressionCRYBB2 [ NCBI-GEO ]   CRYBB2 [ EBI - ARRAY_EXPRESS ]   CRYBB2 [ SEEK ]   CRYBB2 [ MEM ]
Gene Expression Viewer (FireBrowse)CRYBB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1415
GTEX Portal (Tissue expression)CRYBB2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43320   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43320  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43320
Splice isoforms : SwissVarP43320
PhosPhoSitePlusP43320
Domaine pattern : Prosite (Expaxy)CRYSTALLIN_BETA_GAMMA (PS50915)   
Domains : Interpro (EBI)Beta/gamma_crystallin    CRYBB2    G_crystallin-rel   
Domain families : Pfam (Sanger)Crystall (PF00030)   
Domain families : Pfam (NCBI)pfam00030   
Domain families : Smart (EMBL)XTALbg (SM00247)  
Conserved Domain (NCBI)CRYBB2
DMDM Disease mutations1415
Blocks (Seattle)CRYBB2
PDB (SRS)1YTQ   
PDB (PDBSum)1YTQ   
PDB (IMB)1YTQ   
PDB (RSDB)1YTQ   
Structural Biology KnowledgeBase1YTQ   
SCOP (Structural Classification of Proteins)1YTQ   
CATH (Classification of proteins structures)1YTQ   
SuperfamilyP43320
Human Protein AtlasENSG00000244752
Peptide AtlasP43320
HPRD00430
IPIIPI00218748   
Protein Interaction databases
DIP (DOE-UCLA)P43320
IntAct (EBI)P43320
FunCoupENSG00000244752
BioGRIDCRYBB2
STRING (EMBL)CRYBB2
ZODIACCRYBB2
Ontologies - Pathways
QuickGOP43320
Ontology : AmiGOstructural molecule activity  structural constituent of eye lens  visual perception  identical protein binding  protein homodimerization activity  camera-type eye development  response to stimulus  
Ontology : EGO-EBIstructural molecule activity  structural constituent of eye lens  visual perception  identical protein binding  protein homodimerization activity  camera-type eye development  response to stimulus  
NDEx NetworkCRYBB2
Atlas of Cancer Signalling NetworkCRYBB2
Wikipedia pathwaysCRYBB2
Orthology - Evolution
OrthoDB1415
GeneTree (enSembl)ENSG00000244752
Phylogenetic Trees/Animal Genes : TreeFamCRYBB2
HOVERGENP43320
HOGENOMP43320
Homologs : HomoloGeneCRYBB2
Homology/Alignments : Family Browser (UCSC)CRYBB2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYBB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYBB2
dbVarCRYBB2
ClinVarCRYBB2
1000_GenomesCRYBB2 
Exome Variant ServerCRYBB2
ExAC (Exome Aggregation Consortium)CRYBB2 (select the gene name)
Genetic variants : HAPMAP1415
Genomic Variants (DGV)CRYBB2 [DGVbeta]
DECIPHERCRYBB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRYBB2 
Mutations
ICGC Data PortalCRYBB2 
TCGA Data PortalCRYBB2 
Broad Tumor PortalCRYBB2
OASIS PortalCRYBB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYBB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRYBB2
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 CRYBB2
DgiDB (Drug Gene Interaction Database)CRYBB2
DoCM (Curated mutations)CRYBB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYBB2 (select a term)
intoGenCRYBB2
Cancer3DCRYBB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123620    601547   
Orphanet1584    23422    14006    14001    14002    14008    14011   
MedgenCRYBB2
Genetic Testing Registry CRYBB2
NextProtP43320 [Medical]
TSGene1415
GENETestsCRYBB2
Target ValidationCRYBB2
Huge Navigator CRYBB2 [HugePedia]
snp3D : Map Gene to Disease1415
BioCentury BCIQCRYBB2
ClinGenCRYBB2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1415
Chemical/Pharm GKB GenePA26912
Clinical trialCRYBB2
Miscellaneous
canSAR (ICR)CRYBB2 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYBB2
EVEXCRYBB2
GoPubMedCRYBB2
iHOPCRYBB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:29:40 CEST 2017

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