BEST1

Summary

BEST1 (bestrophin 1, HGNC:12703) is a protein-coding gene on chromosome 11q12.3, encoding Bestrophin-1 (O76090). Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+).

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.

Source: NCBI Gene 7439 — RefSeq curated summary.

At a glance

• Gene–disease (curated): BEST1-related dominant retinopathy (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 13
• Clinical variants (ClinVar): 1,028 total — 150 pathogenic, 108 likely-pathogenic
• Phenotypes (HPO): 65
• MANE Select transcript: NM_004183

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12703
Approved symbol	BEST1
Name	bestrophin 1
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	BMD, BEST, RP50
Ensembl gene	ENSG00000167995
Ensembl biotype	protein_coding
OMIM	607854
Entrez	7439

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000378043, ENST00000449131, ENST00000524877, ENST00000524926, ENST00000526988, ENST00000529265, ENST00000533521, ENST00000534553

RefSeq mRNA: 7 — MANE Select: NM_004183 NM_001139443, NM_001300786, NM_001300787, NM_001363591, NM_001363592, NM_001363593, NM_004183

CCDS: CCDS31580, CCDS44623, CCDS86208

Canonical transcript exons

ENST00000378043 — 11 exons

Exon	Start	End
ENSE00001119147	61958146	61958298
ENSE00002182324	61950351	61950427
ENSE00003463426	61959892	61960043
ENSE00003465370	61957387	61957464
ENSE00003502325	61956844	61956998
ENSE00003565169	61955718	61955951
ENSE00003584534	61964104	61964461
ENSE00003654022	61959498	61959578
ENSE00003658293	61951771	61951958
ENSE00003663965	61962255	61962893
ENSE00003686424	61955107	61955201

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 99.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9091 / max 1245.4755, expressed in 923 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114636	1.8192	125
114639	0.9444	406
114633	0.7191	281
114642	0.6123	143
114641	0.5418	188
114643	0.4070	60
114634	0.2883	82
114640	0.1455	64
114644	0.1434	27
114638	0.1401	64

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	99.77	gold quality
lateral globus pallidus	UBERON:0002476	95.56	gold quality
inferior olivary complex	UBERON:0002127	92.67	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.65	gold quality
spinal cord	UBERON:0002240	91.69	gold quality
olfactory bulb	UBERON:0002264	91.51	silver quality
substantia nigra pars reticulata	UBERON:0001966	91.37	gold quality
monocyte	CL:0000576	91.15	gold quality
globus pallidus	UBERON:0001875	90.96	gold quality
tibial nerve	UBERON:0001323	90.84	gold quality
substantia nigra pars compacta	UBERON:0001965	90.57	gold quality
mononuclear cell	CL:0000842	90.22	gold quality
medial globus pallidus	UBERON:0002477	90.03	gold quality
putamen	UBERON:0001874	89.67	gold quality
subthalamic nucleus	UBERON:0001906	89.55	gold quality
leukocyte	CL:0000738	89.47	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.89	gold quality
caudate nucleus	UBERON:0001873	88.57	gold quality
substantia nigra	UBERON:0002038	88.29	gold quality
middle frontal gyrus	UBERON:0002702	88.07	gold quality
inferior vagus X ganglion	UBERON:0005363	87.83	gold quality
midbrain	UBERON:0001891	87.81	gold quality
blood	UBERON:0000178	87.72	gold quality
dorsal plus ventral thalamus	UBERON:0001897	87.49	gold quality
type B pancreatic cell	CL:0000169	86.73	gold quality
pons	UBERON:0000988	86.37	gold quality
amygdala	UBERON:0001876	86.27	gold quality
granulocyte	CL:0000094	86.24	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	85.42	gold quality
medulla oblongata	UBERON:0001896	84.56	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	41355.92
E-CURD-112	yes	17483.28
E-MTAB-8142	yes	1005.81
E-MTAB-10283	yes	886.75
E-GEOD-149689	yes	857.87
E-MTAB-8495	yes	713.09
E-HCAD-56	yes	663.69
E-MTAB-8410	yes	588.39
E-GEOD-81383	yes	181.71
E-GEOD-135922	yes	19.10
E-GEOD-111727	no	145.84
E-MTAB-7606	no	132.35
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CLDN19, CLDN3, CRX, MITF, OTX1, OTX2, SOX10, SOX8, SOX9, TCF4, TFE3, TFEB

miRNA regulators (miRDB)

23 targeting BEST1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-3138	98.41	67.53	744
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-22-5P	97.67	68.92	1355
HSA-MIR-6729-3P	96.91	66.79	703
HSA-MIR-324-5P	95.68	65.20	560

Literature-anchored findings (GeneRIF, showing 40)

• Using heterologous expression, we show here that human, Drosophila, and C. elegans bestrophins form oligomeric chloride channels, and that human bestrophin is sensitive to intracellular calcium (PMID:11904445)
• the gene causing the Best’s macular dystrophy (bestrophin) encodes a putative ion exchanger (PMID:11913792)
• Bestrophin modulates the light peak of the electrooculogram, that it is regulated by phosphorylation. (PMID:12058047)
• analysis of bestrophin mutations to identify regions responsible for distinctive plasma membrane conductance (PMID:12907679)
• All family members with maculopathy consistent with Best disease (n = 10) had an amino acid-changing mutation in the VMD2 gene. (PMID:13129869)
• studies define the VMD2 promoter region sufficient to drive retinal pigment epithelium-specific expression, identify positive regulatory regions, and suggest that MITF as well as other E-box binding factors act as positive regulators of VMD2 expression (PMID:14982938)
• The data showed that VMD2 mutations caused defects of ocular patterning (PMID:15452077)
• VMD2 has a role in airway epithelial ion transport. (PMID:15556645)
• Best-like lesions may develop in older patients without associated VMD2 mutations. (PMID:15808248)
• In the present series I295del, the most frequent mutation in our study, and N99K showed reduced penetrance. EOG was normal in young patients even if prime signs were visible. (PMID:16612637)
• Understanding the structure of the anion conduction pathway of bestrophins provides insights into how mutations produce channel dysfunction and may provide important information for development of therapeutic strategies for treating macular degeneration. (PMID:16707793)
• A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2. (PMID:16754206)
• A novel de novo mutation in the VMD2 gene was found in a patient whose phenotype and electro-oculographic findings were characteristic of Best macular dystrophy (PMID:16769844)
• Although RDS and VMD2 are the only known genes with mutations contributing to adult-onset vitelliform macular dystropht, our series demonstrates that most patients have mutations in genes that have yet to be discovered. (PMID:16885924)
• BEST1 may form the Ca2+-activated Cl(-) current, or it may be a component of a Cl(-) channel complex in epithelial tissues. (PMID:17003041)
• The disease-causing A243V mutation is associated with altered hBest1 Cl(-) channel activity. (PMID:17065513)
• our data suggest a topological model of bestrophin-1 with four transmembrane-spanning segments and one large cytoplasmatic loop between putative TMD2 and TMD5 (PMID:17110374)
• 6 new VMD2 mutations were identified, located exclusively in exons 4, 6 & 8. Q293H is non-functional & inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner. (PMID:17287362)
• bestrophin could be particularly important in diseases such as cystic fibrosis and secretory diarrhea–REVIEW (PMID:17361457)
• Basolateral Cl(-) channels play a major role in the NO-dependent regulation of anion secretion in Calu-3 cells. (PMID:17468957)
• Topographic differences in the levels of bestrophin protein may in part explain the propensity for the macula to develop lesions in Best disease. (PMID:17591911)
• A novel mutation (R218G), probably involving a functionally active region of the bestrophin protein, was found in Italian families with differing Best disease phenotypes. (PMID:17646752)
• Multifocal vitelliform dystrophy is a clinically and genetically heterogeneous retinal disease that can be caused by mutations in the VMD2 gene. (PMID:17698758)
• Study demonstrates that homozygous or compound heterozygous sequence variants in BEST1 cause a retinal phenotype that termed autosomal-recessive bestrophinopathy. (PMID:18179881)
• Eag1 and Best1 improve intracellular Ca(2+) signaling and cell volume regulation. (PMID:18222922)
• Disease-causing mutations in hBest1 may produce disease by altering HCO3(-) homeostasis as well as Cl(-) transport in the retina. (PMID:18400985)
• We found that mouse exocrine glands expressed an alternately spliced variant of Best3, a member of the Bestrophin (Vmd2) Ca2+-activated Cl channel gene family, whereas the heart expressed full-length Best3. (PMID:18414923)
• This study describes a novel autosomal dominant vitreoretinochoroidopathy (ADVIRC) BEST1 mutation and shows that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein. (PMID:18611979)
• The Val-242-Met mutation is associated with a late-onset visual disturbance and the Arg-218-Cys mutation was associated with marked intra-familial clinical variability of expression. (PMID:18766995)
• OTR1, OTX2 and CRX act as positive modulators of the BEST1 promoter in the retinal pigment epithelium. (PMID:18849347)
• The (293-308) acidic aa in the C terminus, followed by an EF hand (D312G and D312G and D323N mutations dramatically reduced the apparent Ca2+ affinity) and another regulatory domain (350-390) are essential for Ca2+ sensing. (PMID:19029375)
• Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells. (PMID:19237432)
• homology models were constructed of human Best1 Asp-rich domain using thrombospondin-1 X-ray structure as a template. Molecular dynamics simulations identified Asp and Glu residues binding Ca2+ and predicted the effects of their mutations to alanine. (PMID:19262692)
• A broad phenotypic variability may be observed in Best vitelliform macular dystrophy (BVMD), even with a single BEST1 mutation. (PMID:19357557)
• hBest1 functions as a multimer in the plasma membrane, and disruption of the N-C interaction by mutations leads to hBest1 channel dysfunction (PMID:19372599)
• The genotype-phenotype correlations that are observed in association with BEST1 mutations are discussed. Describes the spectrum of phenotypes.[REVIEW] (PMID:19375515)
• we examine data obtained from tissue-type and animal models and discuss the current state of bestrophin research, what roles Best1 may play in ocular epithelia and electrophysiology, how perturbation of these functions may result in disease. [REVIEW] (PMID:19398034)
• Patients with the Glu292Lys variation in BEST1 exhibit intrafamilial and interfamilial phenotypic variability. (PMID:19597114)
• Our results support a model in which ceramide accumulation during early stages of retinopathy inhibits hBest1 function, leading to abnormal fluid transport across the retina, and enhanced inflammation. (PMID:19635817)
• Data demonstrate that bestrophin 1 is localized in the endoplasmic reticulum (ER), where it interacts with the ER-Ca(2+) sensor and can enhance Ca(2+) signaling and activation of Ca(2+)-dependent Cl(-) (TMEM16A) and K(+) (SK4) channels. (PMID:19823864)

Cross-species orthologs

23 orthologs

Organism	Symbol	Gene ID
danio_rerio	best1	ENSDARG00000078331
mus_musculus	Best1	ENSMUSG00000037418
rattus_norvegicus	Best1	ENSRNOG00000020346
drosophila_melanogaster	Best4	FBGN0036491
drosophila_melanogaster	Best3	FBGN0036492
drosophila_melanogaster	Best1	FBGN0040238
caenorhabditis_elegans		WBGENE00007203
caenorhabditis_elegans		WBGENE00007204
caenorhabditis_elegans		WBGENE00007404
caenorhabditis_elegans		WBGENE00007808
caenorhabditis_elegans	best-8	WBGENE00007988
caenorhabditis_elegans	best-10	WBGENE00008185
caenorhabditis_elegans	best-11	WBGENE00008186
caenorhabditis_elegans		WBGENE00008821
caenorhabditis_elegans		WBGENE00013520
caenorhabditis_elegans	best-25	WBGENE00014102
caenorhabditis_elegans	best-26	WBGENE00014103
caenorhabditis_elegans		WBGENE00015628
caenorhabditis_elegans		WBGENE00020046
caenorhabditis_elegans		WBGENE00021368
caenorhabditis_elegans		WBGENE00022797
caenorhabditis_elegans		WBGENE00206487
caenorhabditis_elegans		WBGENE00220250

Paralogs (3): BEST2 (ENSG00000039987), BEST3 (ENSG00000127325), BEST4 (ENSG00000142959)

Protein

Protein identifiers

Bestrophin-1 — O76090 (reviewed: O76090)

Alternative names: TU15B, Vitelliform macular dystrophy protein 2

All UniProt accessions (4): A0A0C4DGE9, B7Z1N8, E9PMB5, O76090

UniProt curated annotations — full annotation on UniProt →

Function. Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+). Allows the movement of chloride and hydrogencarbonate. Found in a partially open conformation leading to significantly smaller chloride movement. Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L-glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation. Upon activation of the norepinephrine-alpha-1 adrenergic receptor signaling pathway, transports as well D-serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition. Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells.

Subunit / interactions. Interacts with YWHAG; this interaction promotes the ligand-gated L-glutamate channel activity leading to the positive regulation of NMDA glutamate receptor activity through the L-glutamate secretion.

Subcellular location. Cell membrane. Basolateral cell membrane.

Tissue specificity. Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Disease relevance. Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical ’egg-yolk’ macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 50 (RP50) [MIM:613194] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. The disease is caused by variants affecting the gene represented in this entry. Vitreoretinochoroidopathy (VRCP) [MIM:193220] An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inactivated by sulfhydryl-reactive agents.

Domain organisation. The C-terminal auto-inhibitory segment (AS) modulates the open/closed conformation of the channel. In a closed conformation, the C-terminal auto-inhibitory segment constricts the channel concentrically by wrapping around the channel periphery in an inter-protomer manner. To allow chloride movement, the C-terminal auto-inhibitory segment opens partially, leading to significantly smaller chloride movement.

Similarity. Belongs to the anion channel-forming bestrophin (TC 1.A.46) family. Calcium-sensitive chloride channel subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
O76090-1	1	yes
O76090-3	3
O76090-4	4

RefSeq proteins (7): NP_001132915, NP_001287715, NP_001287716, NP_001350520, NP_001350521, NP_001350522, NP_004174* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000615	Bestrophin	Family
IPR021134	Bestrophin-like	Family

Pfam: PF01062

Catalyzed reactions (Rhea), 4 shown:

• hydrogencarbonate(in) = hydrogencarbonate(out) (RHEA:28695)
• chloride(in) = chloride(out) (RHEA:29823)
• 4-aminobutanoate(in) = 4-aminobutanoate(out) (RHEA:35035)
• L-glutamate(out) = L-glutamate(in) (RHEA:66336)

UniProt features (171 total): sequence variant 120, helix 18, topological domain 5, binding site 5, mutagenesis site 5, turn 5, transmembrane region 4, strand 3, splice variant 3, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

19 structures.

PDB	Method	Resolution (Å)
8D1I	ELECTRON MICROSCOPY	1.82
8D1J	ELECTRON MICROSCOPY	2.05
8D1L	ELECTRON MICROSCOPY	2.12
8D1K	ELECTRON MICROSCOPY	2.28
9CTQ	ELECTRON MICROSCOPY	2.41
9CTR	ELECTRON MICROSCOPY	2.42
8D1O	ELECTRON MICROSCOPY	2.44
9CTS	ELECTRON MICROSCOPY	2.45
9EGM	ELECTRON MICROSCOPY	2.45
9EGS	ELECTRON MICROSCOPY	2.45
9CTT	ELECTRON MICROSCOPY	2.5
9EGT	ELECTRON MICROSCOPY	2.57
9DYL	ELECTRON MICROSCOPY	2.6
9EGQ	ELECTRON MICROSCOPY	2.62
9DYM	ELECTRON MICROSCOPY	2.67
9KC9	ELECTRON MICROSCOPY	3.1
8D1M	ELECTRON MICROSCOPY	3.11
9KCA	ELECTRON MICROSCOPY	3.18
9KP6	ELECTRON MICROSCOPY	3.18

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76090-F1	72.46	0.55

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 10 (in other chain); 293; 296; 301; 304

Mutagenesis-validated functional residues (5):

Position	Phenotype
23	impairs inactivation of ligand-gated anion channel activity by sulfhydryl-reactive agents; when associated with a-42; a-
42	impairs inactivation of ligand-gated anion channel activity by sulfhydryl-reactive agents; when associated with a-23; a-
69	impairs inactivation of ligand-gated anion channel activity by sulfhydryl-reactive agents; when associated with a-23; a-
221	impairs inactivation of ligand-gated anion channel activity by sulfhydryl-reactive agents; when associated with a-23; a-
251	impairs inactivation of ligand-gated anion channel activity by sulfhydryl-reactive agents; when associated with a-23; a-

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 265 (showing top): RNGTGGGC_UNKNOWN, GOBP_GLUTAMATE_SECRETION, GOBP_ACID_SECRETION, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, GOBP_CHLORIDE_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (13): chloride transport (GO:0006821), visual perception (GO:0007601), glutamate secretion (GO:0014047), transepithelial chloride transport (GO:0030321), monoatomic ion transmembrane transport (GO:0034220), regulation of synaptic plasticity (GO:0048167), detection of light stimulus involved in visual perception (GO:0050908), protein complex oligomerization (GO:0051259), regulation of calcium ion transport (GO:0051924), gamma-aminobutyric acid secretion, neurotransmission (GO:0061534), chloride transmembrane transport (GO:1902476), monoatomic ion transport (GO:0006811), bicarbonate transport (GO:0015701)

GO Molecular Function (7): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), bicarbonate transmembrane transporter activity (GO:0015106), ligand-gated channel activity (GO:0022834), identical protein binding (GO:0042802), bicarbonate channel activity (GO:0160133), channel activity (GO:0015267)

GO Cellular Component (8): cytosol (GO:0005829), plasma membrane (GO:0005886), basal plasma membrane (GO:0009925), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), chloride channel complex (GO:0034707), presynapse (GO:0098793), membrane microdomain (GO:0098857)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Ion channel transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
chloride transport	2
transport	2
membrane	2
plasma membrane region	2
monoatomic anion transport	1
inorganic anion transport	1
sensory perception of light stimulus	1
dicarboxylic acid transport	1
acidic amino acid transport	1
secretion by cell	1
nitrogen compound transport	1
transepithelial transport	1
monoatomic ion transport	1
transmembrane transport	1
modulation of chemical synaptic transmission	1
regulation of biological quality	1
visual perception	1
detection of light stimulus involved in sensory perception	1
protein-containing complex assembly	1
calcium ion transport	1
regulation of metal ion transport	1
neurotransmitter secretion	1
gamma-aminobutyric acid secretion	1
synaptic transmission, GABAergic	1
monoatomic anion transmembrane transport	1
chloride channel activity	1
ligand-gated monoatomic anion channel activity	1
intracellularly calcium-gated channel activity	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
bicarbonate transport	1
transmembrane transporter activity	1
gated channel activity	1
protein binding	1
bicarbonate transmembrane transporter activity	1
channel activity	1
passive transmembrane transporter activity	1
cytoplasm	1
cell periphery	1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BEST1	RPE65	Q16518	892
BEST1	PRPH2	P23942	868
BEST1	MYRF	Q9Y2G1	832
BEST1	ABCA4	P78363	812
BEST1	CRX	O43186	789
BEST1	RLBP1	P12271	782
BEST1	IMPG2	Q9BZV3	775
BEST1	RPGR	Q92834	746
BEST1	EYS	Q5T1H1	744
BEST1	PRPF31	Q8WWY3	742
BEST1	LRRC8A	Q8IWT6	741
BEST1	PRCD	Q00LT1	728
BEST1	MERTK	Q12866	720
BEST1	RDH12	Q96NR8	708
BEST1	FSCN2	O14926	707

IntAct

5 interactions, top by confidence:

A	B	Type	Score
BEST1	BEST1	psi-mi:“MI:0407”(direct interaction)	0.510
BEST1	BEST1	psi-mi:“MI:2364”(proximity)	0.510
BEST1	DNAJC5	psi-mi:“MI:0915”(physical association)	0.400
BEST1	RPLP2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (12): BEST1 (Affinity Capture-RNA), BEST1 (Affinity Capture-Luminescence), NEDD4L (Affinity Capture-Western), BEST1 (PCA), BEST1 (Affinity Capture-Western), MS4A13 (Two-hybrid), FXYD6-FXYD2 (Two-hybrid), RPLP2 (Proximity Label-MS), PPP2CA (Affinity Capture-Western), PPP2CA (Reconstituted Complex), BEST1 (Positive Genetic), KIAA1551 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0U1QT59, A4GG66, A4GVD1, A6XKM2, D3KZG3, G5EBQ8, O45813, O57474, O76090, P08050, P14154, P16863, P17302, P18246, P18861, P19334, P23242, P28228, P28229, P34586, P34672, P36383, P48994, P91682, Q0V990, Q11069, Q21123, Q22549, Q29101, Q2HJ66, Q4R4S7, Q5XXA6, Q5YCC7, Q6H1V1, Q6PYT3, Q6R4A8, Q6S9C0, Q6TYA7, Q6TYA8, Q6TYA9

Diamond homologs: E1BF86, O18304, O45435, O76090, O88870, P34319, P34577, P34672, Q17528, Q17529, Q17851, Q19978, Q21973, Q22566, Q23369, Q6H1V1, Q6UY87, Q8BGM5, Q8N1M1, Q8NFU0, Q8NFU1, Q8WMR7, Q94175, O18303, O45363

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
MITF	“up-regulates quantity by expression”	BEST1	“transcriptional regulation”
PRKCD	“down-regulates activity”	BEST1	phosphorylation
OTX2	“up-regulates quantity by expression”	BEST1	“transcriptional regulation”
SOX9	“up-regulates quantity by expression”	BEST1	“transcriptional regulation”
CRX	“up-regulates quantity by expression”	BEST1	“transcriptional regulation”
OTX1	“up-regulates quantity by expression”	BEST1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

1028 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	150
Likely pathogenic	108
Uncertain significance	347
Likely benign	193
Benign	58

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1000927	NM_004183.4(BEST1):c.47C>A (p.Ser16Tyr)	Pathogenic
1058157	NM_004183.4(BEST1):c.241G>C (p.Val81Leu)	Pathogenic
1059329	NM_004183.4(BEST1):c.292G>A (p.Glu98Lys)	Pathogenic
1068677	NM_004183.4(BEST1):c.190A>T (p.Lys64Ter)	Pathogenic
1069277	NM_004183.4(BEST1):c.579_580insCATT (p.Lys194delinsHisTer)	Pathogenic
1070185	NM_004183.4(BEST1):c.652C>G (p.Arg218Gly)	Pathogenic
1074134	NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter)	Pathogenic
1074923	NM_004183.4(BEST1):c.868-1G>A	Pathogenic
1075048	NM_004183.4(BEST1):c.725_726del (p.Val242fs)	Pathogenic
1075489	NM_004183.4(BEST1):c.1319_1388del (p.Glu440fs)	Pathogenic
1297719	NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu)	Pathogenic
1344923	NM_004183.4(BEST1):c.454C>G (p.Pro152Ala)	Pathogenic
1351735	NM_004183.4(BEST1):c.890C>A (p.Pro297His)	Pathogenic
1375926	NM_004183.4(BEST1):c.224T>C (p.Leu75Pro)	Pathogenic
1404062	NM_004183.4(BEST1):c.671T>G (p.Leu224Arg)	Pathogenic
143127	NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	Pathogenic
1451704	NM_004183.4(BEST1):c.119dup (p.Leu41fs)	Pathogenic
1451804	NM_004183.4(BEST1):c.1533_1534del (p.Ser512fs)	Pathogenic
1452856	NM_004183.4(BEST1):c.427G>T (p.Val143Phe)	Pathogenic
1457091	NM_004183.4(BEST1):c.902A>G (p.Asp301Gly)	Pathogenic
1457855	NM_004183.4(BEST1):c.860G>A (p.Trp287Ter)	Pathogenic
1458361	NC_000011.9:g.(?61717900)(61719450_?)del	Pathogenic
1458641	NM_004183.4(BEST1):c.475C>T (p.Gln159Ter)	Pathogenic
1459557	NM_004183.4(BEST1):c.240C>G (p.Phe80Leu)	Pathogenic
1482656	NM_004183.4(BEST1):c.916G>C (p.Glu306Gln)	Pathogenic
1491457	NM_004183.4(BEST1):c.701T>G (p.Leu234Arg)	Pathogenic
1501574	NM_004183.4(BEST1):c.241G>T (p.Val81Leu)	Pathogenic
1503600	NM_004183.4(BEST1):c.8T>A (p.Ile3Asn)	Pathogenic
162042	NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)	Pathogenic
1685569	NM_004183.4(BEST1):c.737G>A (p.Ser246Asn)	Pathogenic

SpliceAI

1791 predictions. Top by Δscore:

Variant	Effect	Δscore
11:61955200:GG:G	donor_gain	1.0000
11:61955201:GG:G	donor_gain	1.0000
11:61955948:GCAG:G	donor_gain	1.0000
11:61955949:CAGGT:C	donor_loss	1.0000
11:61955950:AGGTG:A	donor_loss	1.0000
11:61955951:GGTGG:G	donor_loss	1.0000
11:61955953:T:A	donor_loss	1.0000
11:61956999:G:GG	donor_gain	1.0000
11:61957381:CCCCA:C	acceptor_loss	1.0000
11:61957382:CCCA:C	acceptor_loss	1.0000
11:61957383:CCA:C	acceptor_loss	1.0000
11:61957384:CAG:C	acceptor_loss	1.0000
11:61957385:A:AC	acceptor_loss	1.0000
11:61957385:A:AG	acceptor_gain	1.0000
11:61957386:G:GG	acceptor_gain	1.0000
11:61957386:G:T	acceptor_loss	1.0000
11:61957386:GGA:G	acceptor_gain	1.0000
11:61957461:ACAGG:A	donor_loss	1.0000
11:61957463:AG:A	donor_loss	1.0000
11:61957464:GGTGA:G	donor_loss	1.0000
11:61957465:GT:G	donor_loss	1.0000
11:61958141:CCCAG:C	acceptor_loss	1.0000
11:61958142:CCAGG:C	acceptor_loss	1.0000
11:61958144:AGGT:A	acceptor_gain	1.0000
11:61958145:G:GT	acceptor_loss	1.0000
11:61958145:GGTG:G	acceptor_gain	1.0000
11:61959495:AAGGT:A	acceptor_gain	1.0000
11:61959882:T:TA	acceptor_gain	1.0000
11:61959891:GGT:G	acceptor_gain	1.0000
11:61960041:CAG:C	donor_loss	1.0000

AlphaMissense

3864 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:61955192:T:C	F80L	0.999
11:61955194:C:A	F80L	0.999
11:61955194:C:G	F80L	0.999
11:61955718:G:A	G83D	0.999
11:61955720:T:C	F84L	0.999
11:61955722:C:A	F84L	0.999
11:61955722:C:G	F84L	0.999
11:61955747:T:A	W93R	0.999
11:61955747:T:C	W93R	0.999
11:61955900:A:C	S144R	0.999
11:61955902:C:A	S144R	0.999
11:61955902:C:G	S144R	0.999
11:61957448:C:A	P233Q	0.999
11:61958167:A:C	S246R	0.999
11:61958169:C:A	S246R	0.999
11:61958169:C:G	S246R	0.999
11:61958290:T:A	W287R	0.999
11:61958290:T:C	W287R	0.999
11:61958294:T:C	L288P	0.999
11:61959511:T:C	L294P	0.999
11:61955201:G:C	G83R	0.998
11:61955736:T:A	V89D	0.998
11:61955745:G:C	R92P	0.998
11:61955847:G:C	R126P	0.998
11:61955922:T:C	F151S	0.998
11:61957448:C:G	P233R	0.998
11:61958288:G:A	G286D	0.998
11:61959502:C:A	A291E	0.998
11:61959511:T:A	L294H	0.998
11:61955184:C:G	P77R	0.997

dbSNP variants (sampled 300 via entrez): RS1000112531 (11:61954624 C>T), RS1000197238 (11:61950308 C>A,T), RS1000202955 (11:61949862 C>T), RS1000545008 (11:61948383 T>C), RS1000545692 (11:61955335 C>G,T), RS1000705146 (11:61955972 G>A,C), RS1000828274 (11:61962272 T>C), RS1000936762 (11:61948768 C>G), RS1000977222 (11:61955041 C>A), RS1001076703 (11:61955606 A>G,T), RS1001291744 (11:61961538 A>G), RS1001489113 (11:61962014 G>A,C), RS1001576388 (11:61955875 C>A), RS1001709350 (11:61949684 T>A,C), RS1001851310 (11:61954505 G>A,C)

Disease associations

OMIM: gene MIM:607854 | disease phenotypes: MIM:153700, MIM:611809, MIM:193220, MIM:613194, MIM:248200, MIM:268000, MIM:620669, MIM:153840, MIM:615517, MIM:601777

GenCC curated gene-disease

Disease	Classification	Inheritance
vitelliform macular dystrophy 2	Definitive	Autosomal dominant
autosomal dominant vitreoretinochoroidopathy	Definitive	Autosomal dominant
autosomal recessive bestrophinopathy	Definitive	Autosomal recessive
retinitis pigmentosa	Definitive	Autosomal recessive
retinitis pigmentosa 50	Strong	Autosomal dominant
MRCS syndrome	Supportive	Autosomal dominant
nanophthalmia	Supportive	Autosomal dominant
adult-onset foveomacular vitelliform dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
BEST1-related dominant retinopathy	Definitive	AD

Mondo (19): vitelliform macular dystrophy 2 (MONDO:0007931), autosomal recessive bestrophinopathy (MONDO:0012733), autosomal dominant vitreoretinochoroidopathy (MONDO:0008662), retinitis pigmentosa 50 (MONDO:0013175), inherited retinal dystrophy (MONDO:0019118), Stargardt disease (MONDO:0019353), retinitis pigmentosa (MONDO:0019200), BEST1-related dominant retinopathy (MONDO:0700238), neurodegeneration with brain iron accumulation 9 (MONDO:0958012), retinal disorder (MONDO:0005283), vitelliform macular dystrophy 1 (MONDO:0007933), microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 (MONDO:0800296), hemochromatosis type 5 (MONDO:0014225), cone-rod dystrophy 6 (MONDO:0011143), isolated macular dystrophy (MONDO:0957048)

Orphanet (13): Best vitelliform macular dystrophy (Orphanet:1243), Autosomal recessive bestrophinopathy (Orphanet:139455), MRCS syndrome (Orphanet:263347), Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Stargardt disease (Orphanet:827), Adult-onset foveomacular vitelliform dystrophy (Orphanet:99000), FTH1-related iron overload (Orphanet:247790), Cone rod dystrophy (Orphanet:1872), OBSOLETE: Isolated macular dystrophy (Orphanet:519302), Severe early-childhood-onset retinal dystrophy (Orphanet:364055), OBSOLETE: Hemochromatosis type 5 (Orphanet:447792)

HPO phenotypes

65 total (30 of 65 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000478	Abnormality of the eye
HP:0000482	Microcornea
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000519	Developmental cataract
HP:0000540	Hypermetropia
HP:0000541	Retinal detachment
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000568	Microphthalmia
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000610	Abnormal choroid morphology
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001178_12	Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)	5.000000e-09
GCST001179_8	Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid)	2.000000e-09
GCST001553_6	Estradiol levels	3.000000e-06
GCST002444_5	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	5.000000e-168
GCST002446_1	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	4.000000e-274
GCST002446_7	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	3.000000e-21
GCST002448_6	Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)	4.000000e-140
GCST002449_6	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	0.000000e+00
GCST002449_8	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	7.000000e-147
GCST002450_8	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	2.000000e-72
GCST002712_4	Red blood cell fatty acid levels	3.000000e-305
GCST009391_1052	Metabolite levels	3.000000e-06
GCST90011899_120	Aspartate aminotransferase levels	2.000000e-09

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007760	eicosapentaenoic acid measurement
EFO:0006809	docosapentaenoic acid measurement
EFO:0004697	estradiol measurement
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0006811	linolenic acid measurement
EFO:0010363	lysophosphatidylcholine 20:4 measurement
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
D000080362	Stargardt Disease	C11.270.872; C11.768.585.439.339; C16.320.290.724
C567518	Bestrophinopathy (supp.)
C565020	Iron Overload, Autosomal Dominant (supp.)
C537832	Macular dystrophy, atypical vitelliform (supp.)
C538363	Retinal cone dystrophy 2 (supp.)
C567712	Retinitis Pigmentosa, Concentric (supp.)
C536352	Vitreoretinochoroidopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Air Pollutants	affects expression, increases expression, affects cotreatment, decreases expression, increases abundance	3
bisphenol A	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
Tunicamycin	increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
thallium sulfate	decreases expression	1
beta-lapachone	increases expression	1
sodium bichromate	decreases expression	1
N(1)-methyl-4-pyridone-5-carboxamide	increases expression	1
perfluorooctanoic acid	increases expression	1
tri-o-cresyl phosphate	increases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
prothioconazole	increases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	increases expression	1
Decitabine	affects expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, decreases expression	1
Calcium	increases activity	1

Cellosaurus cell lines

6 cell lines: 4 induced pluripotent stem cell, 1 embryonic stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_9078	GENEA069	Embryonic stem cell	Male
CVCL_D1RR	Abcam U-87MG BEST1 KO	Cancer cell line	Male
CVCL_QY14	TVGH-iPSC-012-04	Induced pluripotent stem cell	Female
CVCL_VN08	HPS1012	Induced pluripotent stem cell	Female
CVCL_WP90	FDEENTi002-A	Induced pluripotent stem cell	Male
CVCL_XJ88	FRIMOi006-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

310 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05704088	PHASE4	COMPLETED	SGLT2 Inhibitors Between Reno Protective Effects and Impact on Bone and Mineral Disease Among Lupus Nephritis Patients
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT05457530	PHASE3	WITHDRAWN	Doravirine and Weight Gain in Antiretroviral Naive
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT03772665	PHASE3	COMPLETED	Safety and Efficacy of Emixustat in Stargardt Disease
NCT05244304	PHASE3	COMPLETED	Phase 3, Randomized, Placebo-Controlled Study of Tinlarebant to Explore Safety and Efficacy in Adolescent Stargardt Disease
NCT07419334	PHASE3	RECRUITING	Study of ALK-001 on the Progression of Stargardt Disease
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa