BEST1 - bestrophin 1 Gene

Also Known as ARB; BMD; BEST; RP50; VMD2; TU15B; Best1V1Delta2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7439

About BEST1

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:61,949,821-61,965,515 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 15 phenotypes. Broad expression in brain (RPKM 5.3), appendix (RPKM 3.0) and 23 other tissues.

Summary

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and Other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]

BEST1 Products (7)

mRNA	Protein	Name
NM_001139443.2	NP_001132915.1	bestrophin-1 isoform 2
NM_001300786.2	NP_001287715.1	bestrophin-1 isoform 3
NM_001300787.2	NP_001287716.1	bestrophin-1 isoform 4
NM_001363591.2	NP_001350520.1	bestrophin-1 isoform 5
NM_001363592.1	NP_001350521.1	bestrophin-1 isoform 6
NM_001363593.2	NP_001350522.1	bestrophin-1 isoform 7
NM_004183.4	NP_004174.1	bestrophin-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables bicarbonate channel activity	IDA IDA: Inferred from direct assay	18400985	GOA
contributes to chloride channel activity	IDA IDA: Inferred from direct assay	17003041	GOA
enables chloride channel activity	IDA IDA: Inferred from direct assay	17003041	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19372599	GOA
enables intracellularly calcium-gated chloride channel activity	IDA IDA: Inferred from direct assay	11904445	GOA
enables intracellularly calcium-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	18179881	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within chloride transport	IDA IDA: Inferred from direct assay	17003041	GOA
involved in protein complex oligomerization	IDA IDA: Inferred from direct assay	26200502	GOA
involved in transepithelial chloride transport	IDA IDA: Inferred from direct assay	17003041	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basal plasma membrane	IDA IDA: Inferred from direct assay	31791063	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	11050159	GOA
part of chloride channel complex	IDA IDA: Inferred from direct assay	17003041	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26200502	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BEST1 Protein Structure

Bestrophin

0
100
200
300
400
500
585 a.a.

Protein Preferred Names	Protein Names
bestrophin-1	Best disease

BEST1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BEST1	O76090	BEST1	Homo sapiens	O76090	Pull Down	19372599
Intra	BEST1	O76090	BEST1	Homo sapiens	O76090	FRET	19372599
Intra	BEST1	O76090	DNAJC5	Homo sapiens	Q9H3Z4	Lumier	29997244
Intra	BEST1	O76090	RPLP2	Homo sapiens	P05387	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Macular Dystrophy, Vitelliform, 2	Best Macular Dystrophy Juvenile-Onset Vitelliform Macular Dystrophy VMD2 Bmd Macular Degeneration, Polymorphic Vitelline Best Vitelliform Macular Dystrophy Best Disease Early-Onset Vitelliform Macular Dystrophy Best Vitelliform Macular Dystrophy, Multifocal Bvmd Polymorphic Vitelline Macular Degeneration Vitelliform Macular Dystrophy Type 2 Vitelliform Macular Dystrophy 2 Vitelliform Macular Dystrophy, Early-Onset Vitelliform Macular Dystrophy, Juvenile-Onset Autosomal Recessive Bestrophinopathy Retinopathy, Burgess-Black Type Best'S Macular Dystrophy Vmd Vitelliform Macular Dystrophy
Retinitis Pigmentosa 50	RP50 Retinitis Pigmentosa, Concentric Retinitis Pigmentosa-50 Retinitis Pigmentosa Concentric
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Mrcs Syndrome	Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
Isolated Macular Dystrophy
Macular Dystrophy, Vitelliform, 3	Adult-Onset Vitelliform Macular Dystrophy Avmd Adult-Onset Foveomacular Vitelliform Dystrophy Aofmd VMD3 Vitelliform Macular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset, With Or Without Choroidal Neovascularization Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization Adult-Onset Foveomacular Dystrophy Vitelliform Macular Dystrophy 3 Foveomacular Dystrophy, Adult-Onset Foveomacular Dystrophy, Adult-Onset Aofmd Macular Dystrophy, Vitelliform, Adult-Onset Adult-Onset Foveomacular Dystrophy With Choroidal Neovascularization Gass Disease Pseudo-Best Disease Pseudo-Vitelliform Macular Dystrophy Gas
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Nanophthalmos	Nanophthalmia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Retinal Degeneration	Degeneration Of Retina
Macular Dystrophy, Patterned, 1	Patterned Macular Dystrophy 1 MDPT1 Patterned Dystrophy Of Retinal Pigment Epithelium Macular Dystrophy, Butterfly-Shaped Pigmentary Butterfly Dystrophy Of Retinal Pigment Epithelium Butterfly-Shaped Pigmentary Maculary Dystrophy 1 Dystrophy, Macular, Patterned, Type 1
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Acute Closed-Angle Glaucoma	Acute Angle-Closure Glaucoma
Aqueous Misdirection
Basal Laminar Drusen	Drusen Of Bruch Membrane Drusen, Cuticular Drusen, Early Adult-Onset, Grouped Cuticular Drusen Early Adult-Onset Grouped Drusen BLD Drusen Cuticular Drusen Early Adult-Onset Grouped
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Macular Degeneration, Age-Related, 4	Age Related Macular Degeneration 4 ARMD4 Macular Degeneration, Age-Related, Type 4
Filamentary Keratitis
Eye Degenerative Disease
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Interval Angle-Closure Glaucoma	Intermittent Angle-Closure Glaucoma Angle-Closure Glaucoma, Subacute Prodromal Angle Closure Glaucoma
Retinal Drusen
Microphthalmia, Isolated 6	Isolated Microphthalmia 6 MCOP6 Microphthalmia, Posterior Nonsyndromic Posterior Nonsyndromic Microphthalmia Microphthalmia, Isolated, 6 Autosomal Recessive Posterior Microphthalmos Posterior Non-Syndromic Microphthalmia Microphthalmia, Isolated, Type 6
Macular Dystrophy, Patterned, 2	Patterned Macular Dystrophy 2 MDPT2 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Butterfly-Shaped Pigmentary Maculary Dystrophy 2
Macular Retinal Edema	Macular Edema Macular Oedema Macular Retinal Oedema Macular Edema, Cystoid
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Tremor, Hereditary Essential, 2	ETM2 Essential Tremor 2 Essential Tremor, Hereditary, 2 Hereditary Essential Tremor 2 Tremor Hereditary Essential, 2
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Vitreoretinal Degeneration, Snowflake Type	Snowflake Vitreoretinal Degeneration SVD Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
Vitreoretinal Dystrophy	Vitreoretinal Dystrophies
Chorioretinal Scar	Chorioretinal Cicatrix Cicatrix Of Choroid Choroid Scar Macula Scar Macular Scarring Retinal Cicatrix Retinal Scar
Patterned Macular Dystrophy	Patterned Dystrophy Of Retinal Pigment Epithelium
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Cold-Induced Sweating Syndrome 3
Vitreous Disease	Disorder Of Vitreous Body
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Refractive Error	Refractive Errors
Amblyopia	Lazy Eye
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Sensory System Disease
Lens Disease	Lens Diseases
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-163126	AChE-IN-52	Inhibitor	/	Unkown
HY-RS01474	BEST1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BEST1	MGD	MGI:1346332
Canis familiaris	BEST1	VGNC	VGNC:38434
Bos taurus	BEST1	VGNC	VGNC:26471
Macaca mulatta	BEST1	VGNC	VGNC:70299
Rattus norvegicus	BEST1	RGD	RGD:1311656
Felis catus	BEST1	VGNC	VGNC:105840
Others	BEST1	NCBI