PROM1

Summary

PROM1 (prominin 1, HGNC:9454) is a protein-coding gene on chromosome 4p15.32, encoding Prominin-1 (O43490). May play a role in cell differentiation, proliferation and apoptosis. In precision oncology, PROM1 EXPRESSION is associated with resistance to Sorafenib in Hepatocellular Carcinoma (CIViC Level B).

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 8842 — RefSeq curated summary.

At a glance

• Gene–disease (curated): PROM1-related dominant retinopathy (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 10
• Clinical variants (ClinVar): 1,198 total — 108 pathogenic, 40 likely-pathogenic
• Phenotypes (HPO): 60
• Precision-oncology evidence (CIViC): 1 curated variant–drug association
• MANE Select transcript: NM_006017

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9454
Approved symbol	PROM1
Name	prominin 1
Location	4p15.32
Locus type	gene with protein product
Status	Approved
Aliases	AC133, CD133, RP41, CORD12
Ensembl gene	ENSG00000007062
Ensembl biotype	protein_coding
OMIM	604365
Entrez	8842

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 32 protein_coding, 7 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000447510, ENST00000502501, ENST00000502943, ENST00000503884, ENST00000504842, ENST00000505450, ENST00000508167, ENST00000508322, ENST00000508940, ENST00000510224, ENST00000511153, ENST00000511270, ENST00000512304, ENST00000513108, ENST00000513448, ENST00000513946, ENST00000514693, ENST00000514967, ENST00000539194, ENST00000540805, ENST00000675377, ENST00000675613, ENST00000888869, ENST00000888870, ENST00000888871, ENST00000888872, ENST00000888873, ENST00000888874, ENST00000888875, ENST00000888876, ENST00000888877, ENST00000888878, ENST00000888879, ENST00000888880, ENST00000888881, ENST00000938908, ENST00000938909, ENST00000938910, ENST00000938911, ENST00000938912, ENST00000971409, ENST00000971410, ENST00000971411

RefSeq mRNA: 10 — MANE Select: NM_006017 NM_001145847, NM_001145848, NM_001145849, NM_001145850, NM_001145851, NM_001145852, NM_001371406, NM_001371407, NM_001371408, NM_006017

CCDS: CCDS47029, CCDS54746, CCDS54747, CCDS54748, CCDS93482, CCDS93483

Canonical transcript exons

ENST00000447510 — 28 exons

Exon	Start	End
ENSE00000705330	16000496	16000619
ENSE00000705331	15998385	15998488
ENSE00000705332	15993987	15994071
ENSE00000705333	15992248	15992391
ENSE00000705334	15991222	15991293
ENSE00000705335	15989732	15989824
ENSE00000705341	15984263	15984355
ENSE00000705342	15980422	15980537
ENSE00001000248	16035735	16035761
ENSE00001072737	15987663	15987716
ENSE00001072746	15979881	15979904
ENSE00001131089	15979395	15979463
ENSE00001131099	16075687	16076118
ENSE00001714999	15971043	15971082
ENSE00002069245	15968228	15969368
ENSE00003483802	16038946	16039001
ENSE00003495755	15985957	15986037
ENSE00003496014	16016166	16016240
ENSE00003524628	16006538	16006690
ENSE00003561279	16024295	16024358
ENSE00003566373	16013275	16013338
ENSE00003571625	15985760	15985828
ENSE00003593045	16023326	16023415
ENSE00003629163	16025192	16025312
ENSE00003633245	16008949	16009108
ENSE00003656917	16018323	16018540
ENSE00003680030	16033304	16033509
ENSE00003901502	16083978	16084023

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 99.73.

FANTOM5 (CAGE): breadth broad, TPM avg 5.3821 / max 379.1063, expressed in 398 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51488	4.7157	379
51489	0.1983	109
51487	0.1733	97
51486	0.1693	91
51483	0.0991	10
51484	0.0076	3
51480	0.0072	3
51481	0.0072	3
51482	0.0043	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.73	gold quality
epithelium of bronchus	UBERON:0002031	99.43	gold quality
bronchus	UBERON:0002185	99.35	gold quality
nasal cavity epithelium	UBERON:0005384	99.28	gold quality
nasal cavity mucosa	UBERON:0001826	98.27	gold quality
parotid gland	UBERON:0001831	98.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.78	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.48	gold quality
trachea	UBERON:0003126	97.09	gold quality
pylorus	UBERON:0001166	96.50	gold quality
renal medulla	UBERON:0000362	95.61	gold quality
colonic mucosa	UBERON:0000317	95.45	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.23	gold quality
metanephros cortex	UBERON:0010533	94.66	gold quality
epithelium of mammary gland	UBERON:0003244	93.16	gold quality
gall bladder	UBERON:0002110	92.68	gold quality
caput epididymis	UBERON:0004358	92.68	gold quality
mammary duct	UBERON:0001765	92.67	gold quality
saliva-secreting gland	UBERON:0001044	92.20	gold quality
ileal mucosa	UBERON:0000331	91.84	gold quality
epithelium of nasopharynx	UBERON:0001951	91.23	gold quality
ventricular zone	UBERON:0003053	91.22	gold quality
minor salivary gland	UBERON:0001830	90.92	gold quality
corpus epididymis	UBERON:0004359	90.57	gold quality
mucosa of transverse colon	UBERON:0004991	90.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.06	gold quality
cardia of stomach	UBERON:0001162	89.34	gold quality
jejunal mucosa	UBERON:0000399	88.78	gold quality
transverse colon	UBERON:0001157	88.73	gold quality
islet of Langerhans	UBERON:0000006	87.93	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-CURD-6	yes	559.29
E-MTAB-9067	yes	307.04
E-MTAB-5061	yes	26.91
E-CURD-114	yes	22.13
E-GEOD-93593	yes	14.93
E-GEOD-137537	yes	14.39
E-GEOD-83139	yes	12.67
E-MTAB-6678	yes	8.50
E-ENAD-27	yes	6.09
E-MTAB-3929	no	550.95
E-GEOD-76312	no	501.16
E-MTAB-10283	no	440.22
E-GEOD-125970	no	3.74
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT1, EPAS1, GSC, HIF1A, HNF1B, HOXB4, MYB, MYC, PEG3, SATB2, SMAD4, SMAD6, SMAD7, SOX2, SP1, SRY

miRNA regulators (miRDB)

67 targeting PROM1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514

Literature-anchored findings (GeneRIF, showing 40)

• A new locus was identified for a bull’s-eye macular dystrophy on the short arm of chromosome 4. (PMID:12657606)
• transcription of AC133 isoforms is controlled by 5 alternative promoters, and in vitro methylation of 2 of these AC133 promoters completely suppresses their activity, suggesting that methylation plays a role in their regulation (PMID:14630820)
• immediately after separation, 96.75+/-0.58% of CD133+ cells and 97.04+/-1.76% of CD133- cells were in G0/G1-phase (PMID:15115691)
• a small population (approximately 1%) of human prostate basal cells express the cell surface marker CD133 (PMID:15226377)
• redistribute several lipid raft markers including cholesterol-binding protein prominin-1 (CD133) in specialized plasma membrane domains (PMID:15231568)
• Data report that a subpopulation of circulating cells expressing AC133 can restore dystrophin expression and ameliorate function in dystrophic skeletal muscle. (PMID:15254585)
• In adults, the expression of human prominin-1 is not limited to stem and progenitor cells, and the epitopes of prominin-1 might be useful for investigating solid cancers. (PMID:15558321)
• New cd133+ cell subpopulation, which is apparently a precursor classical endothelial progenitor cells more potent with respect too homing and vasscular repair. (PMID:16439688)
• CD133 mRNA expression is increased in cancer patients with metastatic disease, specifically with bone metastasis. In addition, CD133 mRNA expression seems to be an independent prognostic factor for overall survival. (PMID:16914572)
• sialomucin endolyn (CD164), an adhesion receptor that regulates the adhesion of CD34+ cells to bone marrow stroma and the recruitment of CD34+CD38(lo/-) cells into cycle, associates with CXCR4 (PMID:17077324)
• CD133-posistive and CD133-negative glioma cells may be similarly resistant to immune surveillance, but INF-gamma may partially restore their immunogenicity and potentiate their lysis by NK cells. (PMID:17077937)
• colon cancer is created and propagated by a small number of undifferentiated tumorigenic CD133+ cells (PMID:17122772)
• CD133 positive hepatocellular carcinoma cells possess high capacity for tumorigenicity (PMID:17205516)
• The differences between the gene expression profiles of CD34(+) and CD133(+) cells indicate the more primitive nature of CD133(+) cells suggesting that CD34(+) and CD133(+) cells may have different roles in hematopoietic regeneration. (PMID:17253947)
• Comparative genomics on PROM1 gene encoding stem cell marker CD133. (PMID:17487431)
• Data show that CD133 and ECE expressions are associated with lymphoid metastasis and prognosis of NSCLC, and their overexpression often suggests unfavorable prognosis of NSCLC. (PMID:17545092)
• Elevated circulating endothelial progenitor marker CD133 messenger RNA levels are associated with colon cancer recurrence (PMID:17594720)
• phenotypic characteristics of retinopathy caused by nonsense mutations in PROM1 (PMID:17605048)
• Expression of CD133 in bone marrow cells of patients with acute leukemia is higher than that in control group. (PMID:17605847)
• Novel germ cell markers PROM1 were significantly upregulated in seminoma specimens, compared to normal testes. (PMID:17785371)
• CD133-1 and CD133-2 may be useful in order to select and enrich the population of CD133(+) ovarian tumor cells, which are characterized by a higher clonogenic efficiency and proliferative potential. (PMID:17868344)
• Tissue factor expression contributes to tumor growth/regulating properties of CD133-positive tumor stem cells. (PMID:17883595)
• Here we tested the safety of autologous transplantation of muscle-derived CD133+ cells in eight boys with Duchenne muscular dystrophy in a 7-month, double-blind phase I clinical trial. (PMID:17912948)
• Data show that a reduction in the oxygen level in these cell cultures dramatically increases the percentage of CD133 expressing cells. (PMID:17977646)
• The neurotransmitter GABA is a potent blocker of the SDF-1alpha-induced migration of CD133(+) hematopoietic stem and progenitor cells from mobilized peripheral blood. (PMID:17999603)
• Human cerebrospinal fluid contains specific membrane particles that carry prominin-1/CD133, a neural stem cell marker implicated in brain tumors, notably glioblastoma. (PMID:18096722)
• CD133 stem cell antigen expression correlates with patient survival in gliomas. (PMID:18172261)
• data show that pancreatic duct cells express prominin-1 and surprisingly reveal that its particular AC133 epitope is not an exclusive stem and progenitor cell marker (PMID:18192867)
• cancer stem cells and expression of CD133 is predictive of prognosis in high-grade oligodendroglial tumors. (PMID:18371181)
• CD133 molecule represents another cell surface marker suitable for identification and isolation of pancreatic endocrine progenitors. (PMID:18374086)
• analysis of CD133-expression and neuronal lineage differentiation potential in high-grade glioma (PMID:18398462)
• Study provides a unique genome-wide molecular signature of CD133+ and CD133- human prostate epithelial cells. (PMID:18398820)
• CD133 which might be correlated with the development and progression of neuroblastoma can serve as one of the important indicators for prognosis of neuroblastoma. (PMID:18402255)
• Relevant animal models can reliably preserve CD133(+) tumor cell pools even during serial in vivo subtransplantations. (PMID:18403755)
• The phenotypic, functional and gene expression differences between endothelial progenitor cells and lymphatic and macrovascular endothelial cells isolated were compared. (PMID:18410526)
• CD133 has roles in metastatic colon cancer and is expressed in colon cancer stem cells (PMID:18497883)
• CD133 associates with the endosomal compartment of mitotic hHSCs (PMID:18511311)
• hepatocellular, pancreatic and gastric cancer cell lines expressed CD133 at levels higher than normal epithelial cells or bone marrow progenitor cells. (PMID:18542072)
• Report a correlation between expression of CD133 and drug resistance in glioblastomas. (PMID:18568776)
• The methylation of promoter P2 was tissue specific, and hypomethylation of this promoter is probably necessary but not sufficient for efficient transcription of the PROM1 gene. (PMID:18602031)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	prom1b	ENSDARG00000034007
danio_rerio	prom1a	ENSDARG00000039966
mus_musculus	Prom1	ENSMUSG00000029086
rattus_norvegicus	Prom1	ENSRNOG00000003098
drosophila_melanogaster	promL	FBGN0026189
drosophila_melanogaster	CG45067	FBGN0266437
caenorhabditis_elegans		WBGENE00008571

Paralogs (1): PROM2 (ENSG00000155066)

Protein

Protein identifiers

Prominin-1 — O43490 (reviewed: O43490)

Alternative names: Antigen AC133, Prominin-like protein 1

All UniProt accessions (8): O43490, A0A0A0N0M1, D6RBI0, D6RCC3, D6RIF3, H0Y9D4, H0Y9M7, H0Y9Q5

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in cell differentiation, proliferation and apoptosis. Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner.

Subunit / interactions. Interacts with CDHR1 and with actin filaments. Interacts with NAT8 and NAT8B.

Subcellular location. Apical cell membrane. Cell projection. Microvillus membrane. Cilium. Photoreceptor outer segment. Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment.

Tissue specificity. Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).

Post-translational modifications. Isoform 1 and isoform 2 are glycosylated. Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.

Disease relevance. Retinitis pigmentosa 41 (RP41) [MIM:612095] 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. Cone-rod dystrophy 12 (CORD12) [MIM:612657] 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. Stargardt disease 4 (STGD4) [MIM:603786] An autosomal dominant form of Stargardt disease, a common hereditary macular degeneration characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. The disease is caused by variants affecting the gene represented in this entry. Macular dystrophy, retinal, 2 (MCDR2) [MIM:608051] An autosomal dominant retinal disease characterized by dyschromatopsia, gradual progressive loss of central visual acuity, and bilateral annular atrophy of retinal pigment epithelium at the macula. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.

Similarity. Belongs to the prominin family.

Isoforms (7)

UniProt ID	Names	Canonical?
O43490-1	1, AC133-1, S2	yes
O43490-2	2, AC133-2, S1
O43490-3	3, S3
O43490-4	4, S10
O43490-5	5, S7
O43490-6	6, S11
O43490-7	7, S12

RefSeq proteins (10): NP_001139319, NP_001139320, NP_001139321, NP_001139322, NP_001139323, NP_001139324, NP_001358335, NP_001358336, NP_001358337, NP_006008* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008795	Prominin	Family

Pfam: PF05478

UniProt features (44 total): glycosylation site 8, topological domain 6, splice variant 6, mutagenesis site 6, transmembrane region 5, modified residue 4, sequence conflict 4, sequence variant 3, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43490-F1	85.68	0.58

Functional residue map

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

Post-translational modifications (4): 225, 257, 264, 863

Glycosylation sites (8): 220, 274, 395, 414, 548, 580, 729, 730

Mutagenesis-validated functional residues (6):

Position	Phenotype
225	loss of acetylation; when associated with q-257 and q-264.
225	loss of expression of the protein in part due to proteasomal degradation; when associated with q-257 and q-264.
257	loss of acetylation; when associated with q-225 and q-264.
257	loss of expression of the protein in part due to proteasomal degradation; when associated with q-225 and q-264.
264	loss of acetylation; when associated with q-225 and q-257.
264	loss of expression of the protein in part due to proteasomal degradation; when associated with q-225 and q-257.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells

MSigDB gene sets: 366 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, LEE_NEURAL_CREST_STEM_CELL_DN, MODULE_64, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, GOBP_NEURAL_RETINA_DEVELOPMENT, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION_INVOLVED_IN_KIDNEY_DEVELOPMENT, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, MODULE_118

GO Biological Process (7): retina layer formation (GO:0010842), photoreceptor cell maintenance (GO:0045494), retina morphogenesis in camera-type eye (GO:0060042), camera-type eye photoreceptor cell differentiation (GO:0060219), podocyte differentiation (GO:0072112), glomerular parietal epithelial cell differentiation (GO:0072139), positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)

GO Molecular Function (4): cholesterol binding (GO:0015485), actinin binding (GO:0042805), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (16): photoreceptor outer segment (GO:0001750), obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), plasma membrane (GO:0005886), microvillus (GO:0005902), cilium (GO:0005929), cell surface (GO:0009986), apical plasma membrane (GO:0016324), microvillus membrane (GO:0031528), vesicle (GO:0031982), photoreceptor outer segment membrane (GO:0042622), extracellular exosome (GO:0070062), prominosome (GO:0071914), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Cell Lineages of the Exocrine Pancreas	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
neural retina development	2
retina morphogenesis in camera-type eye	2
glomerular epithelial cell differentiation	2
cytoplasm	2
intracellular membrane-bounded organelle	2
membrane-bounded organelle	2
extracellular vesicle	2
anatomical structure formation involved in morphogenesis	1
retina homeostasis	1
multicellular organismal process	1
anatomical structure morphogenesis	1
camera-type eye morphogenesis	1
retina development in camera-type eye	1
eye photoreceptor cell differentiation	1
renal filtration cell differentiation	1
positive regulation of epithelial cell differentiation	1
nephron tubule epithelial cell differentiation	1
regulation of nephron tubule epithelial cell differentiation	1
sterol binding	1
alcohol binding	1
cytoskeletal protein binding	1
cell adhesion molecule binding	1
binding	1
photoreceptor cell cilium	1
endomembrane system	1
membrane	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
intraciliary transport particle	1
plasma membrane bounded cell projection	1
apical part of cell	1
plasma membrane region	1
microvillus	1
cell projection membrane	1
photoreceptor outer segment	1
ciliary membrane	1

Protein interactions and networks

STRING

3226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PROM1	CD34	P28906	927
PROM1	CDHR1	Q96JP9	888
PROM1	CD44	P16070	885
PROM1	CD24	P25063	877
PROM1	ALDH1A1	P00352	872
PROM1	SOX2	P48431	871
PROM1	NANOG	Q9H9S0	846
PROM1	POU5F1	P31359	842
PROM1	EPCAM	P16422	840
PROM1	LGR5	O75473	826
PROM1	NES	P48681	826
PROM1	CTNNB1	P35222	817
PROM1	KRT19	P08727	803
PROM1	EGFR	P00533	801
PROM1	ABCA4	P78363	794

IntAct

43 interactions, top by confidence:

A	B	Type	Score
HDAC6	PROM1	psi-mi:“MI:0914”(association)	0.570
HDAC6	PROM1	psi-mi:“MI:0915”(physical association)	0.570
PROM1	HDAC6	psi-mi:“MI:0915”(physical association)	0.570
PROM1	CTNNB1	psi-mi:“MI:0914”(association)	0.430
CTNNB1	PROM1	psi-mi:“MI:0914”(association)	0.430
CTNNB1	PROM1	psi-mi:“MI:0403”(colocalization)	0.430
Cdhr1	PROM1	psi-mi:“MI:0915”(physical association)	0.400
PROM1	ACTB	psi-mi:“MI:0915”(physical association)	0.400
Actb	PROM1	psi-mi:“MI:0915”(physical association)	0.400
PROM1	YIPF6	psi-mi:“MI:0915”(physical association)	0.370
PROM1	CYB5A	psi-mi:“MI:0915”(physical association)	0.370
PROM1	SERP1	psi-mi:“MI:0915”(physical association)	0.370
PROM1	CD63	psi-mi:“MI:0915”(physical association)	0.370
PROM1	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
PROM1	CCL2	psi-mi:“MI:0915”(physical association)	0.370
PROM1	LYPD6B	psi-mi:“MI:0915”(physical association)	0.370
PROM1	BCAP31	psi-mi:“MI:0915”(physical association)	0.370
PROM1	TMEM165	psi-mi:“MI:0915”(physical association)	0.370
PROM1	AIF1L	psi-mi:“MI:0915”(physical association)	0.370
PROM1	VKORC1	psi-mi:“MI:0915”(physical association)	0.370
PROM1	IFITM1	psi-mi:“MI:0915”(physical association)	0.370
PROM1	IFITM3	psi-mi:“MI:0915”(physical association)	0.370
CCDC167	PROM1	psi-mi:“MI:0915”(physical association)	0.370
PROM1	GHITM	psi-mi:“MI:0915”(physical association)	0.370
PROM1	SPCS1	psi-mi:“MI:0915”(physical association)	0.370
PROM1	CXCL14	psi-mi:“MI:0915”(physical association)	0.370
PROM1	ATP5MC3	psi-mi:“MI:0915”(physical association)	0.370
PROM1	ELOVL5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (33): PROM1 (Synthetic Lethality), PIK3R1 (Affinity Capture-Western), PROM1 (Affinity Capture-Western), PROM1 (Biochemical Activity), PIK3R1 (Reconstituted Complex), LAMP1 (Co-localization), TSG101 (Affinity Capture-Western), TSG101 (Co-localization), NEDD4 (Affinity Capture-Western), PROM1 (Proximity Label-MS), HDAC6 (Affinity Capture-MS), HDAC6 (Affinity Capture-Western), PROM1 (Affinity Capture-Western), HDAC6 (Two-hybrid), SYNJ2BP (Co-fractionation)

ESM2 similar proteins: A5DU71, B0YA61, F1MWM0, F1QYC4, H2L0G5, O35600, O43490, O54990, O95477, O97827, P35802, P35803, P36964, P41233, P51674, P78363, P79826, P82295, P97564, P97927, Q02739, Q059Y8, Q0V9V9, Q0V9W0, Q0VD07, Q16363, Q18695, Q20332, Q28793, Q32LT7, Q4WCL2, Q5GJ77, Q5R9Q3, Q61ZW5, Q6AX57, Q6GM04, Q6GPA5, Q6NUZ2, Q6P1U2, Q7PRJ0

Diamond homologs: O43490, O54990, Q9W735

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SRC	unknown	PROM1	phosphorylation
PTPRK	“down-regulates activity”	PROM1	dephosphorylation

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

1198 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	108
Likely pathogenic	40
Uncertain significance	580
Likely benign	289
Benign	49

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
100577	NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)	Pathogenic
1066615	NM_006017.3(PROM1):c.784+2T>C	Pathogenic
1066755	NM_006017.3(PROM1):c.220+2T>A	Pathogenic
1070960	NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)	Pathogenic
1071947	NM_006017.3(PROM1):c.2196del (p.Ser733fs)	Pathogenic
1074912	NM_006017.3(PROM1):c.2215del (p.Thr739fs)	Pathogenic
1075161	NM_006017.3(PROM1):c.2198_2199del (p.Ser733fs)	Pathogenic
1075674	NM_006017.3(PROM1):c.2305A>T (p.Lys769Ter)	Pathogenic
1075844	NM_006017.3(PROM1):c.2329dup (p.Thr777fs)	Pathogenic
1076229	NC_000004.11:g.(?16034907)(16037404_?)del	Pathogenic
1328094	NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter)	Pathogenic
1348552	NM_006017.3(PROM1):c.220+1G>C	Pathogenic
1351895	NM_006017.3(PROM1):c.1423_1424del (p.Val475fs)	Pathogenic
1367385	NM_006017.3(PROM1):c.1648_1651del (p.Ser550fs)	Pathogenic
1387526	NC_000004.11:g.(?15993851)(15995714_?)del	Pathogenic
1416448	NM_006017.3(PROM1):c.386dup (p.Phe130fs)	Pathogenic
1436127	NM_006017.3(PROM1):c.1887_1890del (p.Met629fs)	Pathogenic
1441148	NM_006017.3(PROM1):c.754del (p.Val252fs)	Pathogenic
1451427	NM_006017.3(PROM1):c.631C>T (p.Gln211Ter)	Pathogenic
1451634	NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter)	Pathogenic
1452506	NM_006017.3(PROM1):c.1282dup (p.Glu428fs)	Pathogenic
1453282	NM_006017.3(PROM1):c.1301G>A (p.Trp434Ter)	Pathogenic
1456133	NC_000004.11:g.(?16077290)(16077529_?)del	Pathogenic
1458550	NM_006017.3(PROM1):c.442A>T (p.Lys148Ter)	Pathogenic
1458832	NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs)	Pathogenic
1709261	NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter)	Pathogenic
1803146	NM_006017.3(PROM1):c.631-2A>G	Pathogenic
1946623	NM_006017.3(PROM1):c.1767G>A (p.Glu589=)	Pathogenic
1994492	NM_006017.3(PROM1):c.2250del (p.Phe750fs)	Pathogenic
1997645	NM_006017.3(PROM1):c.1817dup (p.Asn606fs)	Pathogenic

SpliceAI

4871 predictions. Top by Δscore:

Variant	Effect	Δscore
4:15980417:CTTA:C	donor_gain	1.0000
4:15980420:A:AC	donor_gain	1.0000
4:15980421:C:CA	donor_gain	1.0000
4:15980421:CT:C	donor_gain	1.0000
4:15980421:CTCAT:C	donor_gain	1.0000
4:15985754:A:AC	donor_gain	1.0000
4:15985755:C:CC	donor_gain	1.0000
4:15985756:TTA:T	donor_loss	1.0000
4:15985757:TAC:T	donor_loss	1.0000
4:15985758:A:AC	donor_gain	1.0000
4:15985758:A:AT	donor_loss	1.0000
4:15985759:C:CG	donor_gain	1.0000
4:15985759:CA:C	donor_gain	1.0000
4:15985759:CAG:C	donor_gain	1.0000
4:15985759:CAGA:C	donor_gain	1.0000
4:15985759:CAGAG:C	donor_gain	1.0000
4:15985824:GTTTC:G	acceptor_gain	1.0000
4:15985825:TTTC:T	acceptor_gain	1.0000
4:15985826:TTC:T	acceptor_gain	1.0000
4:15985827:TC:T	acceptor_gain	1.0000
4:15985828:CC:C	acceptor_gain	1.0000
4:15985828:CCTGG:C	acceptor_loss	1.0000
4:15985829:C:CA	acceptor_loss	1.0000
4:15985829:C:CC	acceptor_gain	1.0000
4:15985830:T:A	acceptor_loss	1.0000
4:15985840:C:CT	acceptor_gain	1.0000
4:15985952:CTCA:C	donor_loss	1.0000
4:15985953:TCAC:T	donor_loss	1.0000
4:15985954:CA:C	donor_loss	1.0000
4:15985955:A:AT	donor_loss	1.0000

AlphaMissense

5695 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:15980452:C:G	R820P	0.990
4:15980528:A:G	W795R	0.989
4:15980528:A:T	W795R	0.989
4:16000604:A:C	S490R	0.989
4:16000604:A:T	S490R	0.989
4:16000606:T:G	S490R	0.989
4:16006629:C:G	G455R	0.988
4:16018405:C:G	C307S	0.988
4:16018406:A:T	C307S	0.988
4:15994066:C:G	C563S	0.987
4:15994067:A:T	C563S	0.987
4:16006544:A:G	L483P	0.987
4:16018378:C:G	C316S	0.987
4:16018379:A:T	C316S	0.987
4:16033412:C:G	R134P	0.987
4:15980467:A:G	L815P	0.985
4:16033467:C:G	G116R	0.985
4:16033467:C:T	G116R	0.985
4:16018377:G:C	C316W	0.984
4:15980445:C:A	M822I	0.983
4:15980445:C:G	M822I	0.983
4:15980445:C:T	M822I	0.983
4:15991244:A:G	L654P	0.983
4:16000618:C:G	G486R	0.983
4:16000618:C:T	G486R	0.983
4:16025312:G:C	S170R	0.983
4:16025312:G:T	S170R	0.983
4:16033305:T:G	S170R	0.983
4:16006628:C:T	G455D	0.982
4:16018453:A:G	L291P	0.982

dbSNP variants (sampled 300 via entrez): RS1000007572 (4:16040421 A>G), RS10000335 (4:16082635 A>C), RS1000035595 (4:16027614 C>A), RS1000065807 (4:16074254 GAGAT>G), RS1000067279 (4:16015068 G>A,C,T), RS1000088779 (4:16021323 A>G), RS10001037 (4:16079698 G>A), RS1000106745 (4:15996726 T>C), RS1000120072 (4:16021037 T>C), RS1000127124 (4:16061745 A>G), RS1000140300 (4:16016408 A>T), RS1000143498 (4:15979130 T>G), RS1000170239 (4:16085062 T>A,C), RS1000174031 (4:16079774 C>T), RS1000194177 (4:15969744 T>C)

Disease associations

OMIM: gene MIM:604365 | disease phenotypes: MIM:612657, MIM:603786, MIM:608051, MIM:268000, MIM:612095, MIM:248200, MIM:120970, MIM:276900, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinal macular dystrophy type 2	Definitive	Autosomal dominant
retinitis pigmentosa 41	Definitive	Autosomal recessive
cone-rod dystrophy 12	Strong	Autosomal recessive
PROM1-related dominant retinopathy	Strong	Autosomal dominant
cone-rod dystrophy	Supportive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant
Stargardt disease	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
PROM1-related dominant retinopathy	Definitive	AD
PROM1-related recessive retinopathy	Definitive	AR

Mondo (16): cone-rod dystrophy 12 (MONDO:0012983), inherited retinal dystrophy (MONDO:0019118), Stargardt disease 4 (MONDO:0011370), retinal macular dystrophy type 2 (MONDO:0011957), retinitis pigmentosa (MONDO:0019200), retinitis pigmentosa 41 (MONDO:0012796), Stargardt disease (MONDO:0019353), cone-rod dystrophy 2 (MONDO:0007362), cone-rod dystrophy (MONDO:0015993), retinal disorder (MONDO:0005283), Usher syndrome (MONDO:0019501), Leber congenital amaurosis 1 (MONDO:0008764), Leber congenital amaurosis (MONDO:0018998), isolated macular dystrophy (MONDO:0957048), optic atrophy (MONDO:0003608)

Orphanet (8): Cone rod dystrophy (Orphanet:1872), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinal macular dystrophy type 2 (Orphanet:319640), Retinitis pigmentosa (Orphanet:791), Stargardt disease (Orphanet:827), Usher syndrome (Orphanet:886), Leber congenital amaurosis (Orphanet:65), OBSOLETE: Isolated macular dystrophy (Orphanet:519302)

HPO phenotypes

60 total (30 of 60 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:0000550	Undetectable electroretinogram
HP:0000551	Color vision defect
HP:0000563	Keratoconus
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:0001141	Severely reduced visual acuity

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000747_8	Self-rated health	9.000000e-06
GCST001713_18	Dental caries	9.000000e-07
GCST002503_2	Suicide attempts in depression or bipolar disorder	8.000000e-07
GCST003139_3	Glomerular filtration rate in chronic kidney disease	8.000000e-06
GCST005576_11	Intracranial aneurysm	2.000000e-07
GCST006626_37	Pulse pressure	1.000000e-10
GCST010796_2019	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_2020	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_2021	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_2022	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004778	self rated health
EFO:0004321	attempted suicide
EFO:0005763	pulse pressure measurement
EFO:0004327	electrocardiography

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
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
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
D052245	Usher Syndromes	C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886
C567206	Cone-Rod Dystrophy 12 (supp.)
C562746	Macular Dystrophy, Retinal, 2 (supp.)
C567422	Retinitis Pigmentosa 41 (supp.)
C535521	Stargardt disease 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

Clinical evidence (CIViC)

Drug × variant × indication: 1 predictive associations from 1 curated evidence items.

Variant	Therapy	Indication	Effect	Level	CIViC
PROM1 EXPRESSION	Sorafenib	Hepatocellular Carcinoma	Resistance	CIViC B	EID926

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3130	PROM1		0.00	0
rs2286455	PROM1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Arsenic Trioxide	decreases expression, affects reaction, decreases response to substance, decreases reaction, increases activity (+1 more)	7
Cisplatin	decreases expression, decreases response to substance, affects expression, affects response to substance, affects cotreatment (+1 more)	7
Valproic Acid	increases expression, affects cotreatment, affects expression, affects methylation	5
Oxygen	decreases reaction, increases expression	4
Cyclosporine	affects expression, decreases expression, increases expression	3
XMU-MP-1	decreases expression, decreases reaction, increases expression	2
sodium arsenite	increases expression	2
cobaltous chloride	decreases reaction, increases expression, increases response to substance	2
diallyl trisulfide	decreases reaction, increases expression, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	2
Decitabine	affects expression, affects methylation, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Quercetin	decreases expression	2
Rotenone	increases expression, decreases expression	2
Smoke	decreases reaction, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Paclitaxel	affects cotreatment, increases expression, decreases response to substance	2
OTX015	decreases expression	1
triptolide	decreases reaction, increases expression	1
naringenin	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
2,3-pentanedione	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
fisetin	decreases expression	1
aflatoxin B2	increases methylation	1
evodiamine	decreases expression	1
eckol	decreases expression	1
ginsenoside Rg3	decreases expression, decreases reaction	1

Cellosaurus cell lines

16 cell lines: 9 cancer cell line, 5 induced pluripotent stem cell, 1 spontaneously immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B8N7	Abcam HCT 116 PROM1 KO	Cancer cell line	Male
CVCL_B9QH	Abcam A-549 PROM1 KO	Cancer cell line	Male
CVCL_C1WN	SKLOi002-A	Induced pluripotent stem cell	Male
CVCL_C1WP	SKLOi003-A	Induced pluripotent stem cell	Female
CVCL_D2RV	CHO/CD133	Spontaneously immortalized cell line	Female
CVCL_D2RW	LN229/CD133	Cancer cell line	Female
CVCL_D8U3	Ubigene HCT 116 PROM1 KO	Cancer cell line	Male
CVCL_E2I0	HAP1 PROM1 (-) 2	Cancer cell line	Male
CVCL_E3UW	ESi125-A	Induced pluripotent stem cell	Female
CVCL_E3UX	ESi126-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

297 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
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
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
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
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)