PRICKLE3

Summary

PRICKLE3 (prickle planar cell polarity protein 3, HGNC:6645) is a protein-coding gene on chromosome Xp11.23, encoding Prickle planar cell polarity protein 3 (O43900). Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation.

LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions.

Source: NCBI Gene 4007 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Leber hereditary optic neuropathy (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 113 total
• Phenotypes (HPO): 3
• MANE Select transcript: NM_006150

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6645
Approved symbol	PRICKLE3
Name	prickle planar cell polarity protein 3
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000012211
Ensembl biotype	protein_coding
OMIM	300111
Entrez	4007

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000376310, ENST00000376317, ENST00000432913, ENST00000453382, ENST00000540849, ENST00000599218, ENST00000611313, ENST00000614014, ENST00000879450, ENST00000879451, ENST00000879452, ENST00000879453, ENST00000935120, ENST00000935121, ENST00000960516, ENST00000960517

RefSeq mRNA: 2 — MANE Select: NM_006150 NM_001307979, NM_006150

CCDS: CCDS14320, CCDS78481

Canonical transcript exons

ENST00000599218 — 9 exons

Exon	Start	End
ENSE00002993518	49174802	49176265
ENSE00003027846	49186256	49186373
ENSE00003051089	49179251	49179388
ENSE00003088742	49178272	49178475
ENSE00003199497	49176903	49177202
ENSE00003225195	49177993	49178179
ENSE00003713102	49183734	49183917
ENSE00003747933	49184625	49184710
ENSE00003754787	49179693	49179806

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 88.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3923 / max 115.3273, expressed in 1742 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199246	8.4604	1731
199245	0.6055	333
199244	0.3264	136

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	88.03	gold quality
gastrocnemius	UBERON:0001388	86.48	gold quality
muscle of leg	UBERON:0001383	85.49	gold quality
esophagus mucosa	UBERON:0002469	84.10	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.08	gold quality
skin of abdomen	UBERON:0001416	83.53	gold quality
skin of leg	UBERON:0001511	82.69	gold quality
granulocyte	CL:0000094	82.52	gold quality
apex of heart	UBERON:0002098	81.63	gold quality
esophagus	UBERON:0001043	81.41	gold quality
ectocervix	UBERON:0012249	81.33	gold quality
mucosa of transverse colon	UBERON:0004991	81.02	gold quality
right atrium auricular region	UBERON:0006631	80.28	gold quality
monocyte	CL:0000576	80.25	gold quality
leukocyte	CL:0000738	80.00	gold quality
mononuclear cell	CL:0000842	79.98	gold quality
right coronary artery	UBERON:0001625	79.69	gold quality
ascending aorta	UBERON:0001496	79.38	gold quality
minor salivary gland	UBERON:0001830	79.36	gold quality
thoracic aorta	UBERON:0001515	79.31	gold quality
descending thoracic aorta	UBERON:0002345	79.30	gold quality
popliteal artery	UBERON:0002250	79.22	gold quality
tibial artery	UBERON:0007610	79.22	gold quality
left uterine tube	UBERON:0001303	79.07	gold quality
left adrenal gland cortex	UBERON:0035825	79.05	gold quality
aorta	UBERON:0000947	79.04	gold quality
lower esophagus	UBERON:0013473	78.93	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.90	gold quality
zone of skin	UBERON:0000014	78.82	gold quality
right adrenal gland	UBERON:0001233	78.79	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	5.89
E-ANND-3	no	2.54

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

62 targeting PRICKLE3, 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-3646	100.00	73.56	5283
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459

Literature-anchored findings (GeneRIF, showing 1)

• PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy. (PMID:32516135)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	prickle3	ENSDARG00000073996
mus_musculus	Prickle3	ENSMUSG00000031145
rattus_norvegicus	Prickle3	ENSRNOG00000022417
drosophila_melanogaster	pk	FBGN0003090
drosophila_melanogaster	esn	FBGN0263934
caenorhabditis_elegans		WBGENE00022727

Paralogs (1): PRICKLE2 (ENSG00000163637)

Protein

Protein identifiers

Prickle planar cell polarity protein 3 — O43900 (reviewed: O43900)

Alternative names: LIM domain only protein 6, Prickle-like protein 3, Triple LIM domain protein 6

All UniProt accessions (6): O43900, A0A0A0MRT7, B7Z6S4, F5H4N2, H0Y413, H7BZP7

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation. PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module. Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions. Involved in the organization of the basal body. Involved in cilia growth and positioning. Required for proper assembly, stability, and function of mitochondrial membrane ATP synthase (mitochondrial complex V).

Subunit / interactions. Interacts with VANGL2 via its C-terminus. The VANGL2-dependent membrane recruitment of PRICKLE3 is a prerequisite for its polarization. Interacts with WTIP. WTIP is involved in the recruitment of PRICKLE3 to the basal body. Interacts with MT-ATP8, a component of the mitochondrial complex V.

Subcellular location. Cytoplasm. Cell membrane. Mitochondrion.

Tissue specificity. Widely expressed.

Disease relevance. Leber hereditary optic neuropathy, modifier (LOAM) [MIM:308905] A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Leber hereditary optic neuropathy is maternally inherited in most case and results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene. The gene represented in this entry acts as a disease modifier.

Similarity. Belongs to the prickle / espinas / testin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O43900-1	1	yes
O43900-2	2

RefSeq proteins (2): NP_001294908, NP_006141* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001781	Znf_LIM	Domain
IPR010442	PET_domain	Domain
IPR033723	PET_prickle	Domain
IPR033725	LIM1_prickle	Domain
IPR033726	LIM2_prickle	Domain
IPR033727	LIM3_prickle	Domain
IPR047120	Pk/Esn/Tes	Family

Pfam: PF00412, PF06297

UniProt features (22 total): compositionally biased region 5, domain 4, sequence variant 3, region of interest 3, modified residue 2, splice variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43900-F1	67.96	0.41

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 (2): 475, 491

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): HNF3ALPHA_Q6, SHIRAISHI_PLZF_TARGETS_UP, IK2_01, YY1_01, GOBP_CELL_PROJECTION_ORGANIZATION, IK3_01, SOX5_01, GCCATNTTG_YY1_Q6, PAX2_02, MIKKELSEN_MCV6_LCP_WITH_H3K4ME3, MIKKELSEN_MEF_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, ENK_UV_RESPONSE_EPIDERMIS_UP, chrXp11, P53_DN.V2_DN

GO Biological Process (1): cell projection organization (GO:0030030)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): mitochondrion (GO:0005739), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cellular component organization	1
transition metal ion binding	1
binding	1
cation binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

952 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRICKLE3	VANGL2	Q9ULK5	966
PRICKLE3	DVL1	O14640	893
PRICKLE3	VANGL1	Q8TAA9	847
PRICKLE3	ANKRD6	Q9Y2G4	841
PRICKLE3	CELSR1	Q9NYQ6	758
PRICKLE3	PTPRU	P78399	697
PRICKLE3	CACNA1F	O60840	692
PRICKLE3	ARHGAP21	Q5T5U3	678
PRICKLE3	SYP	P08247	668
PRICKLE3	INVS	Q9Y283	643
PRICKLE3	DVL2	O14641	638
PRICKLE3	CELSR3	Q9NYQ7	629
PRICKLE3	FZD6	O60353	628
PRICKLE3	FZD3	Q9NPG1	614
PRICKLE3	LMO1	P25800	593

IntAct

40 interactions, top by confidence:

A	B	Type	Score
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
SULT2B1	PRICKLE3	psi-mi:“MI:0915”(physical association)	0.560
PRICKLE3	SULT2B1	psi-mi:“MI:0915”(physical association)	0.560
PRICKLE3	SIAH2	psi-mi:“MI:0914”(association)	0.530
PRICKLE3	TUBG1	psi-mi:“MI:0914”(association)	0.530
PRICKLE3	METTL18	psi-mi:“MI:0914”(association)	0.530
ABL1	PRICKLE3	psi-mi:“MI:0915”(physical association)	0.400
PRICKLE3	CRK	psi-mi:“MI:0915”(physical association)	0.400
PRICKLE3	SRC	psi-mi:“MI:0915”(physical association)	0.400
PRICKLE3	FYN	psi-mi:“MI:0915”(physical association)	0.400
GRB2	PRICKLE3	psi-mi:“MI:0915”(physical association)	0.400
PRICKLE3	NCK1	psi-mi:“MI:0915”(physical association)	0.400
Mzt2		psi-mi:“MI:0915”(physical association)	0.400
Tubg1		psi-mi:“MI:0915”(physical association)	0.400
PRICKLE3	TRIM29	psi-mi:“MI:0915”(physical association)	0.370
PRICKLE3	UBL4A	psi-mi:“MI:0914”(association)	0.350
TBC1D9	SRSF2	psi-mi:“MI:0914”(association)	0.350
Pcbp2	USP11	psi-mi:“MI:0914”(association)	0.350
Topbp1	POP7	psi-mi:“MI:0914”(association)	0.350
Hnrnpf	MATR3	psi-mi:“MI:0914”(association)	0.350
DNAJC11		psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
SPMAP2	PRICKLE3	psi-mi:“MI:0914”(association)	0.350

BioGRID (121): SULT2B1 (Two-hybrid), PRICKLE3 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS), GBE1 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TUBG1 (Affinity Capture-MS), YWHAE (Affinity Capture-MS), UBL4A (Affinity Capture-MS), CHD9 (Affinity Capture-MS), RNF170 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8F1M4, A0A8M9QN10, A0JMQ9, A6NIR3, A8DZE6, A8WH69, B2KF05, F1QCY8, O43147, O43900, O54880, P0C6P5, P59729, P97433, Q13009, Q18PD9, Q2NKQ1, Q32L09, Q3U5C7, Q58D79, Q5EB20, Q5PQS0, Q5U464, Q60592, Q6IVY4, Q6P0Q8, Q6ZQF7, Q6ZUJ8, Q71QF9, Q768S4, Q7T2V3, Q7TNN8, Q7TSI1, Q7ZVP1, Q803A0, Q80U12, Q80VL3, Q80Y24, Q8BPQ7, Q8BRB7

Diamond homologs: A0A1L8F1M4, A0M8R4, A0M8S5, A0M8U6, A1Z6W3, A8WH69, O43294, O43900, P47226, Q00PK1, Q04650, Q07DW1, Q07DX3, Q07DY3, Q07DZ4, Q07E27, Q07E40, Q07E51, Q09YI0, Q09YJ2, Q09YK3, Q09YL5, Q09YN8, Q108U9, Q174I2, Q17QE2, Q28FG2, Q292U2, Q292U5, Q2IBA3, Q2IBC3, Q2IBH0, Q2LAP6, Q2QL92, Q2QLA1, Q2QLB2, Q2QLC3, Q2QLE3, Q2QLF4, Q2QLG8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Downstream signal transduction	5	68.0×	2e-06
FCGR3A-mediated phagocytosis	6	40.1×	2e-06
VEGFA-VEGFR2 Pathway	5	24.9×	1e-04
Signaling by Rho GTPases	5	6.1×	9e-03
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	5	6.0×	1e-02
Infectious disease	6	5.3×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
ephrin receptor signaling pathway	5	45.2×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1649 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49178271:CCTCG:C	donor_gain	1.0000
X:49178476:C:CC	acceptor_gain	1.0000
X:49179252:T:TA	donor_gain	1.0000
X:49179692:CCTCA:C	donor_gain	1.0000
X:49179696:A:AC	donor_gain	1.0000
X:49179697:C:CC	donor_gain	1.0000
X:49179807:C:CG	acceptor_loss	1.0000
X:49179817:A:C	acceptor_gain	1.0000
X:49183697:A:AC	donor_gain	1.0000
X:49183698:C:CC	donor_gain	1.0000
X:49183746:AAGG:A	donor_gain	1.0000
X:49183769:A:AC	donor_gain	1.0000
X:49183769:ACT:A	donor_gain	1.0000
X:49183770:C:CC	donor_gain	1.0000
X:49183770:CTC:C	donor_gain	1.0000
X:49183772:C:CA	donor_gain	1.0000
X:49183785:G:GA	donor_gain	1.0000
X:49183914:CTTT:C	acceptor_gain	1.0000
X:49183915:TTT:T	acceptor_gain	1.0000
X:49183918:C:CC	acceptor_gain	1.0000
X:49184748:C:CT	acceptor_gain	1.0000
X:49186254:A:AC	donor_gain	1.0000
X:49186255:C:CC	donor_gain	1.0000
X:49176266:C:CC	acceptor_gain	0.9900
X:49176902:CCTGG:C	donor_gain	0.9900
X:49177200:GGCC:G	acceptor_loss	0.9900
X:49177201:GCC:G	acceptor_loss	0.9900
X:49177203:C:CA	acceptor_loss	0.9900
X:49177203:C:CC	acceptor_gain	0.9900
X:49177204:T:C	acceptor_loss	0.9900

AlphaMissense

4020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49177162:C:A	W332C	1.000
X:49177162:C:G	W332C	1.000
X:49179259:A:G	C186R	1.000
X:49177099:G:C	F353L	0.999
X:49177099:G:T	F353L	0.999
X:49177101:A:G	F353L	0.999
X:49177141:G:C	F339L	0.999
X:49177141:G:T	F339L	0.999
X:49177143:A:G	F339L	0.999
X:49177164:A:G	W332R	0.999
X:49177164:A:T	W332R	0.999
X:49178116:A:G	C278R	0.999
X:49178121:A:G	F276S	0.999
X:49178137:A:G	W271R	0.999
X:49178137:A:T	W271R	0.999
X:49178279:C:T	C254Y	0.999
X:49178287:G:C	C251W	0.999
X:49178288:C:G	C251S	0.999
X:49178289:A:G	C251R	0.999
X:49178289:A:T	C251S	0.999
X:49178323:G:C	C239W	0.999
X:49178324:C:T	C239Y	0.999
X:49178325:A:G	C239R	0.999
X:49178357:A:G	L228P	0.999
X:49178386:A:C	C218W	0.999
X:49178387:C:T	C218Y	0.999
X:49178388:A:G	C218R	0.999
X:49178407:C:A	W211C	0.999
X:49178407:C:G	W211C	0.999
X:49178409:A:G	W211R	0.999

dbSNP variants (sampled 300 via entrez): RS1001552731 (X:49183481 C>A,T), RS1002830217 (X:49178197 T>C), RS1003559312 (X:49187715 G>A), RS1003611629 (X:49187229 A>G), RS1004824985 (X:49182435 C>T), RS1004897404 (X:49180446 C>A), RS1005880408 (X:49184065 G>A,T), RS1006399805 (X:49175392 G>A), RS1006499620 (X:49184413 G>T), RS1006680431 (X:49177677 C>T), RS1006843148 (X:49186556 C>A,T), RS1007563029 (X:49186166 G>A), RS1008402295 (X:49179489 T>A), RS1008672208 (X:49181795 T>C,G), RS1008766248 (X:49179969 A>G)

Disease associations

OMIM: gene MIM:300111 | disease phenotypes: MIM:535000

GenCC curated gene-disease

Disease	Classification	Inheritance
Leber hereditary optic neuropathy	Limited	X-linked

Mondo (1): Leber hereditary optic neuropathy (MONDO:0010788)

Orphanet (1): Leber hereditary optic neuropathy (Orphanet:104)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000648	Optic atrophy
HP:0001112	Leber optic atrophy
HP:0001417	X-linked inheritance

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002395_635	Mean platelet volume	4.000000e-12

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D029242	Optic Atrophy, Hereditary, Leber	C10.292.700.225.500.400; C10.574.500.662.400; C11.270.564.400; C11.640.451.451.400; C16.320.290.564.400; C16.320.400.630.400; C18.452.660.670

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
titanium dioxide	increases expression	1
kojic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Estradiol	increases expression	1
Silicon Dioxide	increases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Gold Compounds	decreases methylation, increases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8TP	Ubigene HCT 116 PRICKLE3 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03293524	PHASE3	COMPLETED	Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
NCT03406104	PHASE3	COMPLETED	RESCUE and REVERSE Long-term Follow-up
NCT07406854	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber’s Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
NCT02176733	PHASE2	UNKNOWN	Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT03153293	PHASE2/PHASE3	UNKNOWN	A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber’s Hereditary Optic Neuropathy
NCT02064569	PHASE1/PHASE2	COMPLETED	Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients
NCT05293626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Gene Therapy Clinical Trial for the Treatment of Leber’s Hereditary Optic Neuropathy Associated With ND4 Mutations
NCT05820152	PHASE1/PHASE2	TERMINATED	Gene Therapy Clinical Trial for the Treatment of Leber’s Hereditary Optic Neuropathy Associated With ND1 Mutations
NCT01267422	Not specified	COMPLETED	Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT01892943	Not specified	COMPLETED	Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey
NCT03011541	Not specified	RECRUITING	Stem Cell Ophthalmology Treatment Study II
NCT03295071	Not specified	COMPLETED	REALITY LHON Registry
NCT03428178	Not specified	UNKNOWN	Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months
NCT03475173	Not specified	RECRUITING	New Non-invasive Modalities for Assessing Retinal Structure and Function
NCT03672968	Not specified	NO_LONGER_AVAILABLE	EAP_GS010_single Patient
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT06376279	Not specified	ENROLLING_BY_INVITATION	Genetic Diagnosis in Inborn Errors of Metabolism
NCT06682819	Not specified	RECRUITING	Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)