BEST1 (bestrophin 1)

2014-11-01  

Identity

HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
ARB,BEST,BMD,Best1V1Delta2,RP50,TU15B,VMD2
FUSION GENES

Other Information

Locus ID:

NCBI: 7439
MIM: 607854
HGNC: 12703
Ensembl: ENSG00000167995

Variants:

dbSNP: 7439
ClinVar: 7439
TCGA: ENSG00000167995
COSMIC: BEST1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167995ENST00000378043O76090
ENSG00000167995ENST00000449131O76090
ENSG00000167995ENST00000524926A0A0C4DGE9
ENSG00000167995ENST00000526988B7Z1N8
ENSG00000167995ENST00000534553E9PMB5

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
119044452002The vitelliform macular dystrophy protein defines a new family of chloride channels.153
181798812008Biallelic mutation of BEST1 causes a distinct retinopathy in humans.89
129076792003Structure-function analysis of the bestrophin family of anion channels.87
193755152009The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.80
198532382009Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.68
154520772004Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).67
193980342009Functional roles of bestrophins in ocular epithelia.56
184009852008Bestrophin Cl- channels are highly permeable to HCO3-.49
175919112007Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.46
149829382004Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation.44

Citation

Dessen P

BEST1 (bestrophin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60739/best1