ABCA4

Summary

ABCA4 (ATP binding cassette subfamily A member 4, HGNC:34) is a protein-coding gene on chromosome 1p22.1, encoding Retinal-specific phospholipid-transporting ATPase ABCA4 (P78363). Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk m….

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2.

Source: NCBI Gene 24 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ABCA4-related retinopathy (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 4,569 total — 840 pathogenic, 392 likely-pathogenic
• Phenotypes (HPO): 59
• MANE Select transcript: NM_000350

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34
Approved symbol	ABCA4
Name	ATP binding cassette subfamily A member 4
Location	1p22.1
Locus type	gene with protein product
Status	Approved
Aliases	FFM, ARMD2, CORD3
Ensembl gene	ENSG00000198691
Ensembl biotype	protein_coding
OMIM	601691
Entrez	24

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000370225, ENST00000460514, ENST00000465352, ENST00000470771, ENST00000472033, ENST00000484388, ENST00000649773

RefSeq mRNA: 2 — MANE Select: NM_000350 NM_000350, NM_001425324

CCDS: CCDS747

Canonical transcript exons

ENST00000370225 — 50 exons

Exon	Start	End
ENSE00000777201	94001858	94001992
ENSE00001003176	94055111	94055315
ENSE00001003180	94041209	94041402
ENSE00001003189	94046919	94047093
ENSE00001003192	94063112	94063317
ENSE00001003208	94112973	94113066
ENSE00001003209	94030996	94031120
ENSE00001003211	94080478	94080718
ENSE00001003212	94030428	94030526
ENSE00001003217	94056601	94056822
ENSE00001003224	94040043	94040127
ENSE00001003229	94098794	94098991
ENSE00001003241	94036740	94036788
ENSE00001003243	94014543	94014690
ENSE00001003245	94077690	94077887
ENSE00001003250	94037145	94037350
ENSE00001067660	94044613	94044744
ENSE00001067662	94051633	94051698
ENSE00001067669	94042761	94042898
ENSE00001067679	94043336	94043475
ENSE00001143234	94062577	94062753
ENSE00001143263	94079322	94079461
ENSE00001143288	94103015	94103142
ENSE00001143297	94108577	94108716
ENSE00001143308	94111438	94111579
ENSE00001143361	94015739	94015854
ENSE00001158185	93997861	93998110
ENSE00001205906	94029445	94029631
ENSE00001205921	94031778	94032043
ENSE00001205962	94048868	94048957
ENSE00001206015	94083352	94083441
ENSE00001206031	93996109	93996195
ENSE00001316639	94078590	94078706
ENSE00001434641	94001002	94001105
ENSE00001434667	94000836	94000928
ENSE00001452106	94120980	94121148
ENSE00001452110	93992834	93993242
ENSE00003472893	94010800	94010929
ENSE00003480149	94008235	94008297
ENSE00003481359	94011262	94011385
ENSE00003496954	94024954	94025048
ENSE00003504852	94021846	94021951
ENSE00003556219	94005441	94005582
ENSE00003601699	94021640	94021714
ENSE00003603120	94023386	94023418
ENSE00003618698	94021240	94021409
ENSE00003638522	94008751	94008871
ENSE00003641790	94019582	94019759
ENSE00003659443	94007634	94007740
ENSE00003692195	94060537	94060759

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 91.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9855 / max 562.7005, expressed in 158 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13377	0.6316	47
13369	0.2429	75
13358	0.0405	17
13368	0.0302	19
13374	0.0145	5
13375	0.0095	3
13367	0.0088	3
13376	0.0076	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	91.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.46	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.67	gold quality
right uterine tube	UBERON:0001302	82.08	gold quality
metanephros cortex	UBERON:0010533	79.42	gold quality
choroid plexus epithelium	UBERON:0003911	77.62	gold quality
cauda epididymis	UBERON:0004360	74.92	gold quality
corpus epididymis	UBERON:0004359	69.89	gold quality
right lobe of liver	UBERON:0001114	68.43	gold quality
skin of abdomen	UBERON:0001416	66.39	gold quality
jejunal mucosa	UBERON:0000399	65.71	silver quality
adult mammalian kidney	UBERON:0000082	65.34	gold quality
duodenum	UBERON:0002114	65.32	gold quality
secondary oocyte	CL:0000655	63.31	gold quality
decidua	UBERON:0002450	63.16	gold quality
small intestine	UBERON:0002108	63.09	gold quality
upper leg skin	UBERON:0004262	63.09	silver quality
small intestine Peyer’s patch	UBERON:0003454	62.96	gold quality
caput epididymis	UBERON:0004358	62.83	gold quality
zone of skin	UBERON:0000014	61.36	gold quality
skin of leg	UBERON:0001511	61.00	gold quality
kidney	UBERON:0002113	60.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.30	gold quality
metanephros	UBERON:0000081	60.27	gold quality
lower esophagus mucosa	UBERON:0035834	59.41	gold quality
mucosa of paranasal sinus	UBERON:0005030	59.20	gold quality
omental fat pad	UBERON:0010414	58.51	gold quality
peritoneum	UBERON:0002358	58.46	gold quality
liver	UBERON:0002107	58.32	gold quality
seminal vesicle	UBERON:0000998	58.22	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	1178.21
E-GEOD-137537	yes	19.45
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, CRX, KDM5B, MYC

miRNA regulators (miRDB)

19 targeting ABCA4, 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-8068	99.98	73.85	2376
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-4712-3P	98.52	65.39	822
HSA-MIR-4448	97.04	66.22	752
HSA-MIR-4268	94.45	64.09	819
HSA-MIR-6767-5P	90.00	62.41	97
HSA-MIR-639	88.87	61.76	78
HSA-MIR-4745-3P	83.50	60.58	126

Literature-anchored findings (GeneRIF, showing 40)

• structure of a bacteriophage T4 gp24 bypass mutant (PMID:16530424)
• The nucleotide binding domain 1 (NBD1) of the retina-specific ATP-binding cassette transporter is a general ribonucleotidase capable of binding ATP, CTP, GTP and UTP. (PMID:11444963)
• Of the 21 missense ABCR mutations reported in patients with AMD, 16 (76%) show abnormalities in protein expression, ATP-binding or ATPase activity. (PMID:11726554)
• Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration (PMID:11919200)
• The ABCA4 2588G>C Stargardt mutation (PMID:11973624)
• Three novel ABCA4 gene mutations were identified in Japanese patients with STGD and arRP. (PMID:12202497)
• Genotype-phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM). (PMID:12442277)
• The ABCA4 gene in autosomal recessive cone-rod dystrophies (PMID:12515255)
• ABCA4 splicing mutations may be associated with a small proportion of AMD (Age-related macular degeneration) cases. (PMID:12592048)
• genomic deletion in patients with Stargardt disease: genomic alterations contribute to only a small fraction of retinopathy-associated alleles (PMID:12754711)
• Patients with autosomal recessive cone-rod dystrophy are likely to harbor a mutation in the ABCA4 gene as the cause of their disease. (PMID:12796258)
• This study confirmed the very high degree of ABCA4 sequence polymorphism in the general population (PMID:12824224)
• nucleotide binding and ATPase activities of the N and C halves of ABCR individually and co-expressed (PMID:12888572)
• A homozygous nonsense mutation 2971G>T (G991X) was detected in a patient diagnosed with cone-rod dystrophy. (PMID:15017103)
• a pilot study by analyzing 8 exudative ARMD patients for allelic variations in the GPX gene and three statistically significant mutations in the ABCR gene (R943Q, G1961E and D2177N) (PMID:15375613)
• ABCA4 splicing mutations may be associated with a small proportion of AMD (Age-related macular degeneration) cases. (PMID:15947798)
• These data indicate that changes in the oligomeric state of the nucleotide binding domains of ABCR are coupled to ATP hydrolysis and might represent a possible signal for the TMDs of ABCR to export the bound substrate. (PMID:16533065)
• Homozygous null mutations in ABCA4 produced a severe widespread retinal degeneration that showed marked central retinal involvement. (PMID:16546111)
• ABCA4 splicing mutations may be associated with a small proportion of AMD (Age-related macular degeneration) cases. (PMID:16604398)
• a new 6730-16del44 deletion is the first de novo mutation associated with cone-rod dystrophy and may contribute to a better understanding of the role of ABCA4 mutations in macular dystrophies [case report] (PMID:16681420)
• Major disease-associated allele, R1129L, which accounted for 24% of the mutated alleles detected, and a high frequency (12%) of complex alleles. (PMID:16917483)
• In the population studied, ABCA4 plays an important role in the pathogenesis of autosomal recessive cone-rod dystrophy . However, mutations in this gene are less frequently identified in other retinal dystrophies. (PMID:17325136)
• Genotype-phenotype correlation of ABCA4, show that homozygosity for the novel c.4254-15del23 splicing mutation is associated with a severe progressive form of Stargardt-like disease. (PMID:17724221)
• Finding a high proportion of novel mutations merits the use of scanning methodologies to analyze the whole coding region of the ABCA4 gene. (PMID:17932850)
• ABCA4 mutation spectrum within relatively stable populations might be skewed due to founder effects. Patients either homozygous or compound heterozygous for N965S mutation show that this mutation has early and profound effect on retinal function. (PMID:17982420)
• We report the unusual association of a retinal astrocytic hamartoma and Stargardt’s disease in a patient with ABCR mutation. (PMID:17997789)
• Variations in the ABCA4 gene are common in bull’s-eye maculopathy. (PMID:18024811)
• Stargardt’s disease is caused by mutations in the ABCR (ABCA4) gene on chromosome 1. (PMID:18214793)
• Disease-associated ABCA4 alleles were identified in 20 of 64 patients with autosomal recessive cone (arCD) and cone rod dystrophy (arCRD). (PMID:18285826)
• Two distinct retinal dystrophies with mutations affecting two different genes ABCA4 and CRB1 genes cosegregated in this family. (PMID:18334942)
• Data show that photoreceptor cell-specific ATP-binding cassette transporter (ABCA4) gene was found to be mutated in patients with Stargardt disease (STGD) and autosomal recessive retinitis pigmentosa (RP). (PMID:18506364)
• associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite (PMID:18523590)
• Stargardt disease (STGD) can present with peripapillary atrophy. This relatively uncommon phenotype may arise from specific combinations of STGD ABCA4 mutations rather than single mutations. (PMID:18854780)
• Calculated prevalence of arSTGD based on the ABCA4 carrier frequency could be higher than previous estimation and this discrepancy between observed and estimated prevalence could be due to the existence of non-pathological or low penetrance alleles. (PMID:18977788)
• a huge number of ABCA4 disease-associated alleles were identified, representing an increment of 4% of novel variants described in this gene, as 500 sequence changes have been described so far. (PMID:19028736)
• Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases. (PMID:19056738)
• ABCA4 mutations lead to a wide spectrum of severity in retinal diseases. (PMID:19074458)
• the G1961E allele contributes to localized macular changes rather than generalized retinal dysfunction, and is a cause of bull’s eye maculopathy in either the homozygosity or heterozygosity state (PMID:19217903)
• In STGD patients, 71 mutations were identified in 68 patients, 43 mutations had been reported in the literature, whereas 28 mutations had not been previously described and were not detected in 150 unaffected control individuals of Italian origin. (PMID:19265867)
• study identified 2 novel ABCA4 mutations, c.655A>T & c.5312+3A>T; in the compound heterozygous state, the mutations cause a phenotype of retinal dystrophy that initially manifests as Stargardt disease and slowly progresses to a severe cone-rod dystrophy (PMID:19352439)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	abca4a	ENSDARG00000057169
danio_rerio	abca4b	ENSDARG00000062661
mus_musculus	Abca4	ENSMUSG00000028125
rattus_norvegicus	Arhgap29	ENSRNOG00000012563
drosophila_melanogaster	Eato	FBGN0028539
drosophila_melanogaster	CG1494	FBGN0031169
drosophila_melanogaster	Abca3	FBGN0031170
drosophila_melanogaster	CG1801	FBGN0031171
drosophila_melanogaster	CG8908	FBGN0034493
drosophila_melanogaster	CG6052	FBGN0036747
drosophila_melanogaster	CG31213	FBGN0051213
drosophila_melanogaster	ldd	FBGN0083956
caenorhabditis_elegans		WBGENE00000019
caenorhabditis_elegans	abt-2	WBGENE00000020
caenorhabditis_elegans		WBGENE00000022
caenorhabditis_elegans	abt-5	WBGENE00000023

Paralogs (11): ABCA7 (ENSG00000064687), ABCA2 (ENSG00000107331), ABCA8 (ENSG00000141338), ABCA12 (ENSG00000144452), ABCA9 (ENSG00000154258), ABCA6 (ENSG00000154262), ABCA10 (ENSG00000154263), ABCA5 (ENSG00000154265), ABCA1 (ENSG00000165029), ABCA3 (ENSG00000167972), ABCA13 (ENSG00000179869)

Protein

Protein identifiers

Retinal-specific phospholipid-transporting ATPase ABCA4 — P78363 (reviewed: P78363)

Alternative names: ATP-binding cassette sub-family A member 4, RIM ABC transporter, Retinal-specific ATP-binding cassette transporter, Stargardt disease protein

All UniProt accessions (2): A0A3B3IRV8, P78363

UniProt curated annotations — full annotation on UniProt →

Function. Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where 11-cis-retinylidene-phosphatidylethanolamine is then isomerized to its all-trans isomer and reduced by RDH8 to produce all-trans-retinol. This transport activity ensures that all-trans-retinal generated from photoexcitation and 11-cis-retinal not needed for the regeneration of rhodopsin and cone opsins are effectively cleared from the photoreceptors, therefore preventing their accumulation and the formation of toxic bisretinoid. Displays ATPase activity in vitro in absence of retinal substrate. May display GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds. Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes N-retinylidene-phosphatidylethanolamine release.

Subcellular location. Membrane. Endoplasmic reticulum. Cytoplasmic vesicle. Cell projection. Cilium. Photoreceptor outer segment.

Tissue specificity. Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Post-translational modifications. Proteolytic cleavage by trypsin leads to a 120-kDa N-terminal fragment and a 115-kDa C-terminal fragment that are linked through disulfide bonds. N-glycosylated. Phosphorylation is independent of light exposure and modulates ATPase activity.

Disease relevance. Stargardt disease 1 (STGD1) [MIM:248200] An autosomal recessive form of Stargardt disease, a retinal degenerative disease characterized by macular dystrophy, progressive bilateral atrophy of the foveal retinal pigment epithelium, and accumulation of fluorescent flecks around the macula and/or in the central and near-peripheral areas of the retina. STGD1 patients typically lose central vision in their first or second decade of life. The disease is caused by variants affecting the gene represented in this entry. Fundus flavimaculatus (FFM) [MIM:248200] Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. The disease is caused by variants affecting the gene represented in this entry. Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Disease susceptibility is associated with variants affecting the gene represented in this entry. Cone-rod dystrophy 3 (CORD3) [MIM:604116] An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 19 (RP19) [MIM:601718] 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. RP19 is characterized by choroidal atrophy. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. ATPase activity is decreased by cholesterol and ceramide. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity.

Domain organisation. The second extracellular domain (ECD2, aa 1395-1680) undergoes conformational change in response to its specific interaction with its substrate all-trans-retinal. Nucleotide binding domain 1 (NBD1, aa 854-1375) binds preferentially and with high affinity with the 11-cis retinal.

Similarity. Belongs to the ABC transporter superfamily. ABCA family.

RefSeq proteins (2): NP_000341, NP_001412253 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR005951	ABCA4/ABCR	Family
IPR013525	ABC2_TM	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR026082	ABCA	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR056264	R2_ABCA1-4-like	Domain

Pfam: PF00005, PF12698, PF23321

Catalyzed reactions (Rhea), 4 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
• a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ADP + phosphate + H(+) (RHEA:66132)
• an N-all-trans-retinylidenephosphatidylethanolamine(out) + ATP + H2O = an N-all-trans-retinylidenephosphatidylethanolamine(in) + ADP + phosphate + H(+) (RHEA:67188)
• N-11-cis-retinylidenephosphatidylethanolamine(out) + ATP + H2O = N-11-cis-retinylidenephosphatidylethanolamine(in) + ADP + phosphate + H(+) (RHEA:67192)

UniProt features (705 total): sequence variant 391, helix 86, strand 84, turn 35, mutagenesis site 25, binding site 21, topological domain 13, transmembrane region 12, sequence conflict 12, glycosylation site 8, disulfide bond 6, modified residue 4, region of interest 3, domain 2, chain 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
7M1Q	ELECTRON MICROSCOPY	2.92
7LKP	ELECTRON MICROSCOPY	3.27
7LKZ	ELECTRON MICROSCOPY	3.27
7E7I	ELECTRON MICROSCOPY	3.3
7E7Q	ELECTRON MICROSCOPY	3.3
7E7O	ELECTRON MICROSCOPY	3.4
7M1P	ELECTRON MICROSCOPY	3.6
8F5B	ELECTRON MICROSCOPY	3.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78363-F1	75.96	0.10

Functional residue map

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

Catalytic / active sites (1): 1309 (cleavage; by trypsin)

Ligand- & substrate-binding residues (21): 336; 338; 587; 653; 938; 966; 969; 970; 971; 1010; 1054; 1064 …

Post-translational modifications (4): 901, 1185, 1313, 1317

Disulfide bonds (6): 54–81, 75–324, 370–519, 641–1490, 1444–1455, 1488–1502

Glycosylation sites (8): 98, 415, 444, 504, 1469, 1529, 1588, 1662

Mutagenesis-validated functional residues (25):

Position	Phenotype
345	loss of n-ret-pe-stimulated atpase activity. no effect on basal atpase activity.
345	loss of n-ret-pe-stimulated atpase activity. no effect on basal atpase activity. decreased n-retinylidene-phosphatidylet
587	loss of n-ret-pe-stimulated atpase activity. no effect on basal atpase activity. decreased n-retinylidene-phosphatidylet
863	reduced retinal-stimulated atp hydrolysis.
940	decreases 11-cis-retinal binding affinity by 50%.
965	no significant effect on basal atpase activity. decreased n-ret-pe-stimulated atpase activity.
965	decreased n-ret-pe binding to 50%-63% of wild-type values.
965	results in minimal, if any, basal atpase activity. loss of n-ret-pe-stimulated atpase activity.
965	decreased basal atpase activity. loss of n-ret-pe-stimulated atpase activity.
966	abolishes basal and retinal-stimulated atp hydrolysis.
969	abolishes basal and retinal-stimulated atp hydrolysis.
969	inhibits atpase activity; when associated with m-1978. decreases translocase activity; when associated with m-1978. does
1087	severely decreased basal atpase activity and loss of n-ret-pe-stimulated atpase activity. does not affect protein foldin
1502	moderately decreased protein abundance. moderately decreased atpase activity. moderately decreased phospholipid transloc
1703	decreased solubility. loss of cytoplasmic vesicle localization. severely decreased basal and n-ret-pe-induced atpase act
1838	severely decreases solubility. loss of cytoplasmic vesicle localization. decreases basal atpase activity below 50%. seve
1974	decreased basal atpase activity and loss of n-ret-pe-stimulated atpase activity.
1974	decreased n-ret-pe binding to 25% of wild-type values.
1974	no significant effect on basal atpase activity. decreased n-ret-pe-stimulated atpase activity.
1975	inhibition of retinal-stimulated atp hydrolysis.
1978	inhibits atpase activity; when associated with m-969. decreases translocase activity; when associated with m-969. does n
2096	decreased basal atpase activity and loss of n-ret-pe-stimulated atpase activity. does not affect protein folding; when a
2107	highly decreased protein abundance. highly decreased atpase activity. highly decreased phospholipid translocase activity
2175	2-fold decreased binding affinity for atp. loss of atpase activity.
2180	does not affect protein abundance. does not affect atpase activity. moderately decreased phospholipid translocase activi

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)
R-HSA-382556	ABC-family protein mediated transport
R-HSA-9918454	Defective visual phototransduction due to ABCA4 loss of function
R-HSA-1643685	Disease
R-HSA-2187338	Visual phototransduction
R-HSA-2453864	Retinoid cycle disease events
R-HSA-2474795	Diseases associated with visual transduction
R-HSA-382551	Transport of small molecules
R-HSA-9675143	Diseases of the neuronal system
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 244 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_PHOTOTRANSDUCTION, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, KEGG_ABC_TRANSPORTERS, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, BROWNE_HCMV_INFECTION_48HR_DN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_PHOTOTRANSDUCTION_VISIBLE_LIGHT, GOBP_PHOTORECEPTOR_CELL_MAINTENANCE, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_RADIATION, GOBP_RETINAL_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (11): retinoid metabolic process (GO:0001523), phospholipid transfer to membrane (GO:0006649), lipid transport (GO:0006869), visual perception (GO:0007601), phototransduction, visible light (GO:0007603), retinal metabolic process (GO:0042574), phospholipid translocation (GO:0045332), photoreceptor cell maintenance (GO:0045494), transmembrane transport (GO:0055085), organic hydroxy compound transport (GO:0015850), retinol transport (GO:0034633)

GO Molecular Function (16): GTPase activity (GO:0003924), retinoid binding (GO:0005501), 11-cis retinal binding (GO:0005502), all-trans retinal binding (GO:0005503), ATP binding (GO:0005524), obsolete phospholipid transporter activity (GO:0005548), ATP hydrolysis activity (GO:0016887), retinol transmembrane transporter activity (GO:0034632), ATPase-coupled transmembrane transporter activity (GO:0042626), phosphatidylethanolamine flippase activity (GO:0090555), ATPase-coupled intramembrane lipid carrier activity (GO:0140326), flippase activity (GO:0140327), N-retinylidene-phosphatidylethanolamine flippase activity (GO:0140347), ABC-type transporter activity (GO:0140359), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787)

GO Cellular Component (8): photoreceptor outer segment (GO:0001750), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), photoreceptor disc membrane (GO:0097381), rod photoreceptor disc membrane (GO:0120202), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Visual phototransduction	1
Transport of small molecules	1
Retinoid cycle disease events	1
Sensory Perception	1
Diseases associated with visual transduction	1
Diseases of the neuronal system	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
ATP-dependent activity	3
cellular anatomical structure	3
phospholipid transport	2
ribonucleoside triphosphate phosphatase activity	2
retinal binding	2
cytoplasm	2
diterpenoid metabolic process	1
membrane organization	1
lipid localization	1
sensory perception of light stimulus	1
phototransduction	1
detection of visible light	1
retinoid metabolic process	1
aldehyde metabolic process	1
olefinic compound metabolic process	1
lipid translocation	1
retina homeostasis	1
multicellular organismal process	1
cellular process	1
organic hydroxy compound transport	1
terpenoid transport	1
isoprenoid binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
alcohol transmembrane transporter activity	1
retinol transport	1
vitamin transmembrane transporter activity	1
lipid transmembrane transporter activity	1
primary active transmembrane transporter activity	1
ATP hydrolysis activity	1
glycerophospholipid flippase activity	1
intramembrane lipid carrier activity	1
ATPase-coupled intramembrane lipid carrier activity	1
flippase activity	1
ATPase-coupled transmembrane transporter activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
photoreceptor cell cilium	1

Protein interactions and networks

STRING

1522 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCA4	RPGR	Q92834	899
ABCA4	ELOVL4	Q9GZR5	891
ABCA4	PRPH2	P23942	889
ABCA4	RPE65	Q16518	867
ABCA4	CNGB3	Q9NQW8	834
ABCA4	EYS	Q5T1H1	829
ABCA4	RDH12	Q96NR8	824
ABCA4	GUCY2D	Q02846	820
ABCA4	CERKL	Q49MI3	819
ABCA4	BEST1	O76090	812
ABCA4	RHO	P08100	809
ABCA4	TULP1	O00294	806
ABCA4	CNGB1	Q14028	795
ABCA4	PROM1	O43490	794
ABCA4	RDH8	Q9NYR8	786

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ABCA4	EPS15	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA4	RALY	psi-mi:“MI:0915”(physical association)	0.400
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (5): RALY (Proximity Label-MS), CNGB1 (Affinity Capture-Western), ABCA4 (Proximity Label-MS), ABCA4 (Affinity Capture-MS), ABCA4 (Co-localization)

ESM2 similar proteins: A0A0G2K1Q8, B2RX12, E9PU17, E9PX95, F1MWM0, O00329, O15438, O35600, O75899, O88563, O88871, O94911, O95477, P41233, P55205, P58428, P78363, Q09427, Q09428, Q09429, Q2NKY8, Q5BJS0, Q5R607, Q5ZI74, Q6TL19, Q7L2E3, Q7TNJ2, Q80T41, Q84M24, Q8CF82, Q8IUA7, Q8K440, Q8K441, Q8K442, Q8K448, Q8K449, Q8LPK0, Q8N139, Q8NCL4, Q8R420

Diamond homologs: A0A0G2K1Q8, C0SPB4, E9PU17, E9PX95, E9Q876, F1MWM0, O35600, O52618, O95477, P08720, P0A9U1, P0A9U2, P0DXG8, P0DXU5, P0DXU7, P19844, P22040, P23703, P26050, P30750, P32010, P36879, P37624, P41233, P41234, P44785, P50332, P54592, P55476, P63355, P63356, P70970, P72335, P78363, P94374, P94440, Q05067, Q0I5E9, Q0TLD2, Q13ZJ1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4569 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	840
Likely pathogenic	392
Uncertain significance	1095
Likely benign	1261
Benign	204

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
100555	NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter)	Pathogenic
1006993	NM_000350.3(ABCA4):c.3241_3253delinsTTTGTGGGAGATG (p.Lys1081_Leu1085delinsPheValGlyAspVal)	Pathogenic
1008599	NM_000350.3(ABCA4):c.5417G>A (p.Ser1806Asn)	Pathogenic
1011177	NM_000350.3(ABCA4):c.1237A>T (p.Asn413Tyr)	Pathogenic
1013518	NM_000350.3(ABCA4):c.2040del (p.Leu680fs)	Pathogenic
1019412	NM_000350.3(ABCA4):c.3299T>C (p.Ile1100Thr)	Pathogenic
1019575	NM_000350.3(ABCA4):c.5084C>A (p.Ala1695Asp)	Pathogenic
1024921	NM_000350.3(ABCA4):c.1758C>G (p.Asp586Glu)	Pathogenic
1042099	NM_000350.3(ABCA4):c.2909C>T (p.Thr970Ile)	Pathogenic
1044852	NM_000350.3(ABCA4):c.1913C>T (p.Pro638Leu)	Pathogenic
1052465	NM_000350.3(ABCA4):c.3344T>C (p.Met1115Thr)	Pathogenic
1062821	NM_000350.3(ABCA4):c.3277G>A (p.Asp1093Asn)	Pathogenic
1064072	NM_000350.3(ABCA4):c.5309A>G (p.Tyr1770Cys)	Pathogenic
1065650	NM_000350.3(ABCA4):c.5461-1G>T	Pathogenic
1065685	NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer)	Pathogenic
1066209	NM_000350.3(ABCA4):c.4979C>G (p.Pro1660Arg)	Pathogenic
1066460	NM_000350.3(ABCA4):c.3352C>G (p.His1118Asp)	Pathogenic
1066885	NM_000350.3(ABCA4):c.1099+2T>G	Pathogenic
1067270	NM_000350.3(ABCA4):c.95C>T (p.Pro32Leu)	Pathogenic
1067805	NM_000350.3(ABCA4):c.3814-2A>G	Pathogenic
1068257	NM_000350.3(ABCA4):c.3260A>G (p.Glu1087Gly)	Pathogenic
1068500	NM_000350.3(ABCA4):c.4237C>T (p.Gln1413Ter)	Pathogenic
1068694	NM_000350.3(ABCA4):c.4938del (p.Asp1646fs)	Pathogenic
1069098	NM_000350.3(ABCA4):c.4671T>A (p.Tyr1557Ter)	Pathogenic
1069499	NM_000350.3(ABCA4):c.2069del (p.Gly690fs)	Pathogenic
1070137	NM_000350.3(ABCA4):c.1069_1075del (p.Asp357fs)	Pathogenic
1070445	NM_000350.3(ABCA4):c.2967del (p.Gly991fs)	Pathogenic
1070817	NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)	Pathogenic
1070984	NM_000350.3(ABCA4):c.1368dup (p.Asn457fs)	Pathogenic
1071049	NM_000350.3(ABCA4):c.6221G>A (p.Gly2074Asp)	Pathogenic

SpliceAI

8234 predictions. Top by Δscore:

Variant	Effect	Δscore
1:93996193:CAC:C	acceptor_gain	1.0000
1:93996195:CCTAG:C	acceptor_loss	1.0000
1:93996196:CT:C	acceptor_loss	1.0000
1:93997893:C:CA	donor_gain	1.0000
1:93998109:ATC:A	acceptor_loss	1.0000
1:93998110:TC:T	acceptor_loss	1.0000
1:93998111:C:CA	acceptor_loss	1.0000
1:93998111:C:CC	acceptor_gain	1.0000
1:93998112:T:A	acceptor_loss	1.0000
1:94000834:A:AC	donor_gain	1.0000
1:94000835:C:CC	donor_gain	1.0000
1:94000837:TGG:T	donor_gain	1.0000
1:94000924:CCATG:C	acceptor_gain	1.0000
1:94000925:CATGC:C	acceptor_gain	1.0000
1:94000927:TG:T	acceptor_gain	1.0000
1:94000929:C:CC	acceptor_gain	1.0000
1:94001028:C:A	donor_gain	1.0000
1:94001826:AAGC:A	donor_gain	1.0000
1:94001854:TTA:T	donor_loss	1.0000
1:94001855:TA:T	donor_loss	1.0000
1:94001856:A:AC	donor_gain	1.0000
1:94001856:A:AG	donor_loss	1.0000
1:94001857:C:CC	donor_gain	1.0000
1:94001857:CCAG:C	donor_gain	1.0000
1:94001988:GCAAC:G	acceptor_gain	1.0000
1:94001989:CAACC:C	acceptor_gain	1.0000
1:94001993:C:CC	acceptor_gain	1.0000
1:94001994:T:A	acceptor_loss	1.0000
1:94005578:AAATA:A	acceptor_gain	1.0000
1:94005579:AATA:A	acceptor_gain	1.0000

AlphaMissense

14975 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:94007706:T:A	K1978I	0.999
1:93997883:A:T	V2236D	0.998
1:93998090:A:T	V2167D	0.998
1:94001098:G:T	P2097H	0.998
1:94046931:T:A	K969I	0.998
1:93996190:A:C	F2245L	0.997
1:93996190:A:T	F2245L	0.997
1:93996192:A:G	F2245L	0.997
1:94001017:A:T	V2124D	0.997
1:94001101:T:A	E2096V	0.997
1:94007730:A:G	L1970P	0.997
1:94014582:A:C	S1807R	0.997
1:94014582:A:T	S1807R	0.997
1:94014584:T:G	S1807R	0.997
1:94042829:T:A	E1087V	0.997
1:94000845:A:G	L2157P	0.996
1:94001014:A:G	L2125P	0.996
1:94001060:A:G	W2110R	0.996
1:94001060:A:T	W2110R	0.996
1:94001098:G:C	P2097R	0.996
1:94001859:A:G	L2094P	0.996
1:94001910:C:G	R2077P	0.996
1:94007707:T:G	K1978Q	0.996
1:94007709:C:T	G1977D	0.996
1:94007725:C:G	G1972R	0.996
1:94007725:C:T	G1972R	0.996
1:94007733:C:T	G1969D	0.996
1:94014585:G:C	S1806R	0.996
1:94014585:G:T	S1806R	0.996
1:94014587:T:G	S1806R	0.996

dbSNP variants (sampled 300 via entrez): RS1000014220 (1:94085919 T>C), RS1000077058 (1:94044338 G>A,C), RS1000087166 (1:94085621 T>C), RS1000138648 (1:94001196 G>A,T), RS1000144193 (1:94076822 C>T), RS1000156371 (1:94095787 A>G), RS1000164879 (1:94045715 G>A), RS1000169583 (1:94022496 G>A), RS1000173043 (1:94012542 G>A), RS1000177041 (1:94077092 A>C), RS1000214348 (1:94063773 C>T), RS1000238305 (1:94116314 CA>C), RS1000249870 (1:94046176 C>T), RS1000313869 (1:94120882 A>C), RS1000334604 (1:94002590 C>G,T)

Disease associations

OMIM: gene MIM:601691 | disease phenotypes: MIM:248200, MIM:153800, MIM:601718, MIM:604116, MIM:268000, MIM:600110, MIM:120970, MIM:180100, MIM:210370, MIM:310500, MIM:603075, MIM:248400, MIM:613341, MIM:153870, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
severe early-childhood-onset retinal dystrophy	Definitive	Autosomal recessive
cone-rod dystrophy 3	Definitive	Autosomal recessive
retinitis pigmentosa 19	Strong	Autosomal recessive
ABCA4-related retinopathy	Strong	Autosomal recessive
cone-rod dystrophy	Supportive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant
Stargardt disease	Supportive	Autosomal dominant
age related macular degeneration 2	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
ABCA4-related retinopathy	Definitive	AR
age related macular degeneration 2	Disputed	AD

Mondo (26): severe early-childhood-onset retinal dystrophy (MONDO:0009549), Stargardt disease (MONDO:0019353), retinal disorder (MONDO:0005283), age related macular degeneration 2 (MONDO:0007932), retinitis pigmentosa 19 (MONDO:0011137), cone-rod dystrophy 3 (MONDO:0011395), inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608), retinitis pigmentosa (MONDO:0019200), ABCA4-related retinopathy (MONDO:0800406), cone dystrophy (MONDO:0000455), Stargardt disease 3 (MONDO:0010819), cone-rod dystrophy (MONDO:0015993), retinitis pigmentosa 1 (MONDO:0008377), Bietti crystalline corneoretinal dystrophy (MONDO:0008865)

Orphanet (14): Severe early-childhood-onset retinal dystrophy (Orphanet:364055), Stargardt disease (Orphanet:827), Cone rod dystrophy (Orphanet:1872), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Progressive cone dystrophy (Orphanet:1871), Bietti crystalline dystrophy (Orphanet:41751), OBSOLETE: Isolated macular dystrophy (Orphanet:519302), Congenital stationary night blindness (Orphanet:215), OBSOLETE: Syndromic rod-cone dystrophy (Orphanet:98661), Benign concentric annular macular dystrophy (Orphanet:251287), Leber congenital amaurosis (Orphanet:65), NON RARE IN EUROPE: Age-related macular degeneration (Orphanet:279), OBSOLETE: Vitreoretinal degeneration (Orphanet:98670)

HPO phenotypes

59 total (30 of 59 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:0000493	Abnormal foveal morphology
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000529	Progressive visual loss
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000548	Cone/cone-rod dystrophy
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000572	Visual loss
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000603	Central scotoma
HP:0000608	Macular degeneration
HP:0000610	Abnormal choroid morphology
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001049_8	D-dimer levels	1.000000e-06
GCST001066_20	Dialysis-related mortality	5.000000e-06
GCST001841_8	Palmitoleic acid (16:1n-7) levels	2.000000e-06
GCST004166_13	Nonsyndromic cleft lip with cleft palate	1.000000e-12
GCST010002_363	Refractive error	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004507	D dimer measurement
EFO:0003959	cleft lip

MeSH disease descriptors (20)

Descriptor	Name	Tree numbers
D001766	Blindness	C10.597.751.941.162; C11.966.075; C23.888.592.763.941.162
D000077765	Cone Dystrophy	C11.270.151; C11.768.216
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D008268	Macular Degeneration	C11.768.585.439
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
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
C535440	Bietti Crystalline Dystrophy (supp.)
C565827	Cone-Rod Dystrophy 3 (supp.)
C567636	Leber Congenital Amaurosis 14 (supp.)
C562479	Macular Degeneration, Age-Related, 2 (supp.)
C537833	Macular dystrophy, concentric annular (supp.)
C565420	Mandibulofacial Dysostosis with Mental Deficiency (supp.)
C536122	Night blindness, congenital stationary (supp.)
C566637	Retinitis Pigmentosa 19 (supp.)
C538365	Retinitis pigmentosa 1 (supp.)
C535805	Stargardt disease 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCA subfamily

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
sodium arsenite	increases expression	2
Zoledronic Acid	increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
fluorene-9-bisphenol	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
arsenite	affects binding, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
Docetaxel	decreases response to substance, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Fluorocarbons	affects cotreatment, decreases expression	1
Hydrocarbons, Chlorinated	decreases expression, affects cotreatment	1
Metals	affects cotreatment, decreases expression	1
Pentachlorophenol	affects cotreatment, decreases expression	1
Polychlorinated Biphenyls	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Vincristine	decreases response to substance, increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	increases expression	1

Cellosaurus cell lines

30 cell lines: 26 induced pluripotent stem cell, 3 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A8MI	LEIi017-A	Induced pluripotent stem cell	Female
CVCL_A8MJ	LEIi017-B	Induced pluripotent stem cell	Female
CVCL_A8MK	LEIi018-A	Induced pluripotent stem cell	Male
CVCL_B5T6	SCTCi017-A	Induced pluripotent stem cell	Female
CVCL_B5T8	SCTCi018-A	Induced pluripotent stem cell	Female
CVCL_C1NS	BIOi003-A	Induced pluripotent stem cell	Female
CVCL_C1SZ	CUIMCi005-A	Induced pluripotent stem cell	Male
CVCL_C9I0	RMCGENi005-A	Induced pluripotent stem cell	Female
CVCL_C9I1	RMCGENi005-A-1	Induced pluripotent stem cell	Female
CVCL_C9I2	SCTCi018-A-1	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT01955135	PHASE4	COMPLETED	Anesthesia for Retinopathy of Prematurity
NCT05244304	PHASE3	COMPLETED	Phase 3, Randomized, Placebo-Controlled Study of Tinlarebant to Explore Safety and Efficacy in Adolescent Stargardt Disease
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
NCT07419334	PHASE3	RECRUITING	Study of ALK-001 on the Progression of Stargardt Disease
NCT04489511	PHASE2	COMPLETED	Study of STG-001 in Subjects With Stargardt Disease
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
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
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