1. Gene
  2. BEST1 - bestrophin 1 Gene

BEST1 - bestrophin 1 Gene

Homo sapiens

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

Gene ID: 7439 | Gene type: protein coding

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

BEST1 Protein Structure

Bestrophin

Bestrophin: Bestrophin, RFP-TM, chloride channel (1 - 317)

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  • 585 a.a.
Protein Preferred Names Protein Names

bestrophin-1

Best disease

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

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