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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. BEST1, bestrophin 1
Sequence ID:NM_001139443
NM_004183
RefSeqGene ID:NG_009033
Entrez Gene ID:7439
Ensembl ID:ENSG00000167995

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BEST MACULAR DYSTROPHY 
BESTROPHINOPATHY 
FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDALNEOVASCULARIZATIONPRPH2
MICROCORNEA, ROD-CONEDYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 
RETINITIS PIGMENTOSA, CONCENTRIC 

Cytogenetic Location (from UniGene)

Cytogenetic Location:11q13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:11: 61717831 - 61731933

 Exon Info From UCSC:
NM_001139443
NM_004183

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3877806Full LengthBC015220bestrophin 1
5194649Full LengthBC041664bestrophin 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_004174  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001139443 NP_001132915    
NM_004183 NP_004174 O76090 Bestrophin

Related Sequences

 
mRNAGenPeptSwissProt
AF073501 AAC33766 O76090
AF057169 AAC64343 O76090
AF057170 AAC64344 O76090
BC015220 AAH15220 O76090
BC041664 AAH41664 O76090
AY515704 AAR99654 O76090
JQ954696 AFR11385 J7LCD9
AB209451 BAD92688 Q59FK9
AK289681 BAF82370 O76090
AK293701 BAH11574 B7Z1N8
AK294577 BAH11817 B7Z2D1
AK295450 BAH12072 B7Z336
AK295580 BAH12111 B7Z375
AK295838 BAH12198 B7Z3G2
AK295998 BAH12234 O76090
AK298747 BAH12865 B7Z5C9
AK301392 BAH13472 O76090

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BEST1 NP_004174 M.musculus Best1 24115 Gene Info NP_036043 70
R.norvegicus Best1 293735   NP_001011940 69

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)