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BEST2 (bestrophin 2)

Identity

Alias_namesVMD2L1
vitelliform macular dystrophy 2-like 1
Alias_symbol (synonym)FLJ20132
Other alias
HGNC (Hugo) BEST2
LocusID (NCBI) 54831
Atlas_Id 60740
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 12863407 and ends at 12869271 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RNASEH2A (19p13.2) / BEST2 (19p13.2)

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)BEST2   17107
Cards
Entrez_Gene (NCBI)BEST2  54831  bestrophin 2
AliasesVMD2L1
GeneCards (Weizmann)BEST2
Ensembl hg19 (Hinxton)ENSG00000039987 [Gene_View]  chr19:12863407-12869271 [Contig_View]  BEST2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000039987 [Gene_View]  chr19:12863407-12869271 [Contig_View]  BEST2 [Vega]
ICGC DataPortalENSG00000039987
TCGA cBioPortalBEST2
AceView (NCBI)BEST2
Genatlas (Paris)BEST2
WikiGenes54831
SOURCE (Princeton)BEST2
Genetics Home Reference (NIH)BEST2
Genomic and cartography
GoldenPath hg19 (UCSC)BEST2  -     chr19:12863407-12869271 +  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BEST2  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblBEST2 - 19p13.2 [CytoView hg19]  BEST2 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIBEST2 [Mapview hg19]  BEST2 [Mapview hg38]
OMIM607335   
Gene and transcription
Genbank (Entrez)AF440756 AK000139 AK225232 AY515705 BC169236
RefSeq transcript (Entrez)NM_017682
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)BEST2
Cluster EST : UnigeneHs.435611 [ NCBI ]
CGAP (NCI)Hs.435611
Alternative Splicing GalleryENSG00000039987
Gene ExpressionBEST2 [ NCBI-GEO ]   BEST2 [ EBI - ARRAY_EXPRESS ]   BEST2 [ SEEK ]   BEST2 [ MEM ]
Gene Expression Viewer (FireBrowse)BEST2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54831
GTEX Portal (Tissue expression)BEST2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFU1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFU1
Splice isoforms : SwissVarQ8NFU1
PhosPhoSitePlusQ8NFU1
Domains : Interpro (EBI)Bestrophin    Bestrophin/UPF0187   
Domain families : Pfam (Sanger)Bestrophin (PF01062)   
Domain families : Pfam (NCBI)pfam01062   
Conserved Domain (NCBI)BEST2
DMDM Disease mutations54831
Blocks (Seattle)BEST2
SuperfamilyQ8NFU1
Human Protein AtlasENSG00000039987
Peptide AtlasQ8NFU1
IPIIPI00171687   IPI01022969   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFU1
IntAct (EBI)Q8NFU1
FunCoupENSG00000039987
BioGRIDBEST2
STRING (EMBL)BEST2
ZODIACBEST2
Ontologies - Pathways
QuickGOQ8NFU1
Ontology : AmiGOmolecular_function  chloride channel activity  plasma membrane  cilium  sensory perception of smell  biological_process  chloride channel complex  membrane depolarization  chloride transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBImolecular_function  chloride channel activity  plasma membrane  cilium  sensory perception of smell  biological_process  chloride channel complex  membrane depolarization  chloride transmembrane transport  chloride transmembrane transport  
Pathways : KEGGSalivary secretion   
NDEx NetworkBEST2
Atlas of Cancer Signalling NetworkBEST2
Wikipedia pathwaysBEST2
Orthology - Evolution
OrthoDB54831
GeneTree (enSembl)ENSG00000039987
Phylogenetic Trees/Animal Genes : TreeFamBEST2
HOVERGENQ8NFU1
HOGENOMQ8NFU1
Homologs : HomoloGeneBEST2
Homology/Alignments : Family Browser (UCSC)BEST2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBEST2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BEST2
dbVarBEST2
ClinVarBEST2
1000_GenomesBEST2 
Exome Variant ServerBEST2
ExAC (Exome Aggregation Consortium)BEST2 (select the gene name)
Genetic variants : HAPMAP54831
Genomic Variants (DGV)BEST2 [DGVbeta]
DECIPHER (Syndromes)19:12863407-12869271  ENSG00000039987
CONAN: Copy Number AnalysisBEST2 
Mutations
ICGC Data PortalBEST2 
TCGA Data PortalBEST2 
Broad Tumor PortalBEST2
OASIS PortalBEST2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBEST2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBEST2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BEST2
DgiDB (Drug Gene Interaction Database)BEST2
DoCM (Curated mutations)BEST2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BEST2 (select a term)
intoGenBEST2
Cancer3DBEST2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607335   
Orphanet
MedgenBEST2
Genetic Testing Registry BEST2
NextProtQ8NFU1 [Medical]
TSGene54831
GENETestsBEST2
Huge Navigator BEST2 [HugePedia]
snp3D : Map Gene to Disease54831
BioCentury BCIQBEST2
ClinGenBEST2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54831
Chemical/Pharm GKB GenePA162377481
Clinical trialBEST2
Miscellaneous
canSAR (ICR)BEST2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBEST2
EVEXBEST2
GoPubMedBEST2
iHOPBEST2
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 11:55:47 CET 2017

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