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FLASH GENE

Symbol

BEST1

contributors: shn - updated : 28-03-2017

HGNC name	bestrophin 1
HGNC id	12703

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADVIRC vitreoretinochoroidopathy ARB autosomal recessive bestrophinopathy RP50 retinitis pigmentosa 50 VMD2 macular dystrophy, vitelliform 2, adult-onset
Location	11q12.3      Physical location : 61.717.355 - 61.731.939
Synonym name	vitelliform macular dystrophy protein 2
	bestrophin
Synonym symbol(s)	TU15B, BMD, BEST, ARB, RP50

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	a 3'UTR containing a region of antisense complementary to the 3' end of FTH1
STRUCTURE	14.57 kb     11 Exon(s)

regulatory sequence	Promoter
	Binding site
text structure	both OTX2 and CRX bound to the BEST1 proximal promoter (may act as positive modulators of the BEST1 promoter in the RPE)
	promoter activity was increased by SOX9 overexpression and decreased by siRNA-mediated SOX9 knockdown

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D11S1765 - D11S4076 - BEST1 - D11S4205 - D11S1883 - qter
Text	[VMD2 ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004183 11 splicing 2690 NP_004174 67.55 585 retinal pigment epithelium, airway epithelial cells 2004 15556645 NM_001139443 9 splicing 2852 NP_001132915 69 604 retinal pigment epithelium, airway epithelial cells 2004 15556645

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Endocrine pancreas       moderately Hearing/Equilibrium ear inner cochlea   highly Nervous brain limbic system hippocampus   moderately Homo sapiens Reproductive female system uterus cervix   highly   female system ovary     moderately   male system testis     highly Homo sapiens Respiratory lung       moderately Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective bone     highly Epithelial barrier/lining retinal pigment epithelium (RPE)   predominantly Homo sapiens Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four putative transmembrane domains
	C-terminal region interacts with protein phophatase 2A

mono polymer

dimer , trimer

HOMOLOGY

interspecies	ortholog to Best1, Rattus norvegicus
	ortholog to Best1, Mus musculus
	ortholog to BEST1, Pan troglodytes

Homologene

FAMILY	strongly homolog to C.elegans RFP family
	bestrophin family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	located at the basolateral membrane of the retinal pigment epithelium in which it probably functions as a Cl- channel
	integral membrane protein, localized predominantly to the basolateral membrane of the retinal pigment epithelium

basic FUNCTION	playing a role in cell proliferation
	able to form Ca2+ - activated Cl- channels
	may contribute to the basolateral cell conductance in airway epithelial cells
	may be a component of a Cl- channel complex in epithelial tissues
	causes Ca2+ -activated Cl- conductance in epithelial
	tissues
	displayed a significant glutamate conductance and this current was associated with a sensor current
	KCNK2 and BEST1 mediate fast and slow glutamate release in acutely dissociated astrocytes
	BEST1-mediated astrocytic glutamate release targets neuronal postsynaptic NMDAR, whereas KCNK2-mediated release does not

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	chloride channel calcium sensitive

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	protein phosphatase 2A, PP2A
	PPP2CB
	PPP2R1B
	direct target of OTX2, and possibly CRX

cell & other

REGULATION

Other

regulated by MITF and OTX2

ASSOCIATED DISORDERS

corresponding disease(s)

VMD2 , RP50 , ADVIRC , ARB

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       many mutations involved in Best vitelliform macular dystrophy by forming non functional channels (mutations disrupting an N-C terminal interaction in the multimer) tumoral     --over   in colonic cancer cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS