PANK2

Summary

PANK2 (pantothenate kinase 2, HGNC:15894) is a protein-coding gene on chromosome 20p13, encoding Pantothenate kinase 2, mitochondrial (Q9BZ23). Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4’-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.

Source: NCBI Gene 80025 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pantothenate kinase-associated neurodegeneration (Definitive, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 566 total — 71 pathogenic, 35 likely-pathogenic
• Phenotypes (HPO): 91
• Druggable target: yes
• MANE Select transcript: NM_001386393

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15894
Approved symbol	PANK2
Name	pantothenate kinase 2
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	HSS, FLJ11729, PKAN, HARP
Ensembl gene	ENSG00000125779
Ensembl biotype	protein_coding
OMIM	606157
Entrez	80025

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000316562, ENST00000336066, ENST00000464452, ENST00000471830, ENST00000495692, ENST00000497424, ENST00000610179, ENST00000619433, ENST00000621507, ENST00000621891, ENST00000643504, ENST00000646394

RefSeq mRNA: 6 — MANE Select: NM_001386393 NM_001324191, NM_001324193, NM_001386393, NM_024960, NM_153638, NM_153640

CCDS: CCDS13071, CCDS13072, CCDS93004

Canonical transcript exons

ENST00000610179 — 7 exons

Exon	Start	End
ENSE00003489274	3918671	3918796
ENSE00003577183	3907926	3908278
ENSE00003598718	3912458	3912634
ENSE00003676041	3910577	3910830
ENSE00003710431	3916927	3917050
ENSE00003814303	3889387	3889728
ENSE00003915496	3923244	3929887

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 97.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.2194 / max 822.2641, expressed in 1824 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183240	25.3120	1822
183239	3.6935	1622
183238	1.5155	695
183242	0.8360	494
183241	0.5707	341
183237	0.2917	131

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	97.73	gold quality
stromal cell of endometrium	CL:0002255	95.10	gold quality
monocyte	CL:0000576	95.09	gold quality
mononuclear cell	CL:0000842	95.02	gold quality
leukocyte	CL:0000738	94.99	gold quality
esophagus squamous epithelium	UBERON:0006920	94.89	gold quality
cervix squamous epithelium	UBERON:0006922	94.66	gold quality
squamous epithelium	UBERON:0006914	94.57	gold quality
granulocyte	CL:0000094	94.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.45	gold quality
epithelium of esophagus	UBERON:0001976	94.28	gold quality
lower esophagus mucosa	UBERON:0035834	94.27	gold quality
blood	UBERON:0000178	93.84	gold quality
middle temporal gyrus	UBERON:0002771	93.76	gold quality
gingival epithelium	UBERON:0001949	93.65	gold quality
descending thoracic aorta	UBERON:0002345	93.45	gold quality
sperm	CL:0000019	93.43	gold quality
calcaneal tendon	UBERON:0003701	93.37	gold quality
amniotic fluid	UBERON:0000173	93.22	gold quality
cerebellar hemisphere	UBERON:0002245	93.22	gold quality
cerebellar cortex	UBERON:0002129	93.15	gold quality
tongue squamous epithelium	UBERON:0006919	93.07	gold quality
hair follicle	UBERON:0002073	92.97	gold quality
visceral pleura	UBERON:0002401	92.80	gold quality
parietal pleura	UBERON:0002400	92.74	gold quality
pleura	UBERON:0000977	92.70	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.57	gold quality
gingiva	UBERON:0001828	92.50	gold quality
thoracic aorta	UBERON:0001515	92.37	gold quality
ascending aorta	UBERON:0001496	92.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.77
E-MTAB-9801	no	4.01

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXN4, HNRNPAB

miRNA regulators (miRDB)

160 targeting PANK2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-129-5P	99.88	70.26	3273

Literature-anchored findings (GeneRIF, showing 40)

• Identified two alternatively used first exons resulting in distinct isoforms, one of which carries an N-terminal extension with a predicted mitochondrial targeting signal. (PMID:12554685)
• Missense mutaions in PANK2 gene were observed in two siblings with Hallervorden- Spatz syndrome (PMID:14639680)
• The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult-onset patients (PMID:14743358)
• An unconventional translational start codon, CUG, which is polymorphic in the general population is proposed. PANK2 is predicted to localize to mitochondria, with a 29 amino acid mitochondrial targeting sequence identified. (PMID:15105273)
• Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T) (PMID:15390030)
• Direct sequencing of the neurodegeneration patient’s genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764–>G substitution (N245S) due to consanguinity of her parents. (PMID:15465096)
• Demonstrated that the mitochondrial isoform is sequentially cleaved at two sites by the mitochondrial processing peptidase, generating a long-lived 48 kDa mature protein localized to mitochondria of neurons in human brain. (PMID:15659606)
• These results suggest that neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease) is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity. (PMID:15659606)
• Novel compound heterozygous mutations (Asp268Gly and Ile391Asn) in the PANK2 gene in a Chinese patient with Hallervorden-Spatz Syndrome (PMID:15747360)
• PANK2 gene mutations can cause Hallervorden-Spatz syndrome in Chinese patients. (PMID:15793782)
• The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. (PMID:15911822)
• The 1142_1144delGAG mutation of PANK2 probably originated from one common ancestor at the beginning of the ninth century, approximately 38 generations ago (PMID:16240131)
• Unique biochemical features of the PanK2 isoforms suggest that catalytic defects may not be the sole cause for the neurodegenerative phenotype. (PMID:16272150)
• We demonstrate that the G521R mutation results in an unstable and inactive protein in tremor-predominant neurodegeneration. (PMID:16450344)
• PANK2 mutations are not associated with some adult degenerative conditions (PMID:16962235)
• PanK2 is located in the mitochondria to sense the levels of palmitoylcarnitine and up-regulate CoA biosynthesis in response to an increased mitochondrial demand for the cofactor to support beta-oxidation (PMID:17242360)
• analysis of the homodimeric structures of the catalytic cores of PanK1alpha and PanK3 in complex with acetyl-CoA and the the structural effects of the PanK2 mutations that have been implicated in neurodegeneration (PMID:17631502)
• expression of PanK2 was higher in human brain compared to mouse brain (PMID:17825826)
• Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia associated with mutations in the PANK2 gene. (PMID:17903678)
• Two novel PANK2 gene mutation in Pantothenate Kinase-Associated Neurodegeneration. (PMID:18006953)
• Focal hand dystonia showed atypical phenotype of PANK2 gene mutations. (PMID:18074375)
• a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration was identified (PMID:18239249)
• In this report identified a novel mutation( in the PANK29p.D378G and p.D452G )gene responsible for PKAN and confirmed that PKAN has a board spectrum of phenotype, even among siblings with same mutations. (PMID:19224615)
• two Japanese siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration who were found to have a novel PANK2 mutation (PMID:20006850)
• PANK2 mutations are not invariably associated with the “eye-of-the-tiger sign (early onset generalised dystonia and basal ganglia abnormalities) (PMID:20551478)
• findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene (PMID:20603201)
• the patient reported here shows a peculiar PKAN clinical phenotype probably based on new mutations identified in the PANK2 gene (PMID:20721927)
• “Progressive delayed-onset postanoxic dystonia” - First example of PKAN symptom onset possibly provoked by environmental trigger (anoxia) (PMID:20925075)
• This study identified that new mutation of Pantothenate kinase associated with neurodegeneration. (PMID:21442655)
• The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with Pantothenate kinase-associated neurodegeneration. (PMID:22103354)
• study used global metabolic profiling to explore the metabolic consequences of mutations in pantothenate kinase 2 that are responsible for Pantothenate Kinase-Associated Neurodegeneration (PMID:22221393)
• Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients highlight a possible molecular relationship between Pank2 deficiency and iron misregulation. (PMID:22692681)
• Identification of novel compound heterozygous mutations in PANK2 gene in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. (PMID:22930366)
• we describe the clinical, radiological, and molecular find-ings of a classic PKAN patient of Iranian descent with a novel frameshift mutation in the coding region of the PANK2 gene (PMID:23116688)
• Mutations in both PANK2 and C19orf12 contributed significantly to neurodegeneration with brain iron accumulation in the Iranian patients (PMID:23166001)
• Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients. (PMID:24348190)
• study presents 2 siblings who were homozygous for a novel c.695A>G (p.Asp232Gly) missense mutation in exon 2 of PANK2 gene; index patient presented with a 5-year history of slowly progressive gait disturbance, dysarthria, mild axial rigidity and bradykinesia (PMID:24655737)
• Novel PANK2 gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. (PMID:24689511)
• Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN (PMID:25668476)
• Data suggests that the c.680 A>G mutation in the PANK2 gene alone is not sufficient to determine acanthocytic shape transformation in erythrocytes but some additional factor(s)/condition(s) are necessary for acanthocytosis to occur. (PMID:25915509)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pank2	ENSDARG00000003311
mus_musculus	Pank2	ENSMUSG00000037514
rattus_norvegicus	Pank2	ENSRNOG00000025286
drosophila_melanogaster	fbl	FBGN0011205

Paralogs (3): PANK3 (ENSG00000120137), PANK1 (ENSG00000152782), PANK4 (ENSG00000157881)

Protein

Protein identifiers

Pantothenate kinase 2, mitochondrial — Q9BZ23 (reviewed: Q9BZ23)

Alternative names: Pantothenic acid kinase 2

All UniProt accessions (5): Q9BZ23, A0A2R8YF29, A0A2R8YFI4, V9GYH1, V9GYZ0

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4’-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC). Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4’-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.

Subunit / interactions. Homodimer.

Subcellular location. Mitochondrion. Mitochondrion intermembrane space. Nucleus Cytoplasm Cytoplasm Cytoplasm.

Tissue specificity. Expressed in the brain (at protein level). Ubiquitous. Highly expressed in the testis. Expressed in the umbilical vein endothelial cells (HUVEC).

Post-translational modifications. Synthesized as a 62-kDa precursor which is proteolytically processed by the mitochondrial-processing peptidase (MPP) via a 59-kDa intermediate to yield the mature mitochondrial 48-kDa subunit.

Disease relevance. Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200] Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the ’eye of the tiger’ sign on brain MRI. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Strongly inhibited by acetyl-CoA and its thioesters. Activated by palmitoylcarnitine.

Pathway. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.

Miscellaneous. The HSS syndrome has been proposed to be renamed because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II. Produced by alternative initiation at Met-124 of isoform 1. May be produced by alternative initiation at Leu-111 of isoform 1.

Similarity. Belongs to the type II pantothenate kinase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BZ23-1	1	yes
Q9BZ23-2	3
Q9BZ23-3	2
Q9BZ23-4	4

RefSeq proteins (6): NP_001311120, NP_001311122, NP_001373322, NP_079236, NP_705902, NP_705904 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004567	Type_II_PanK	Family
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF03630

Enzyme classification (BRENDA):

• EC 2.7.1.33 — pantothenate kinase (BRENDA: 34 organisms, 95 substrates, 317 inhibitors, 102 Km, 58 kcat entries)

Substrate kinetics (BRENDA)

39 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0031–9.59	31
(R)-PANTOTHENATE	0.0057–0.833	14
PANTOTHENATE	0.009–1.3	13
(2S)-3-ETHYL-2-HYDROXY-3-(HYDROXYMETHYL)-N-[3-OX	0.59–1.2	2
N-HEPTYLPANTOTHENAMIDE	0.008–0.124	2
N-PENTYLPANTOTHENAMIDE	0.003–0.14	2
PANTOTHENOL	0.25–0.28	2
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-(3-OXO-3-[[(PI	1	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-(3-OXO-3-[[2-(	1	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-(3-OXO-3-[[2-(	0.11	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-(3-[[2-OXO-2-(	1.2	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-(3-[[3-(MORPHO	0.35	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-[(1-PENTYL-1H-	0.19	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-[3-(1-PROPYL-1	1	1
(2R)-2,4-DIHYDROXY-3,3-DIMETHYL-N-[3-OXO-3-(PENT	0.036	1

Catalyzed reactions (Rhea), 1 shown:

• (R)-pantothenate + ATP = (R)-4’-phosphopantothenate + ADP + H(+) (RHEA:16373)

UniProt features (105 total): sequence variant 39, helix 19, strand 17, turn 4, splice variant 4, binding site 3, modified residue 3, compositionally biased region 3, chain 2, region of interest 2, short sequence motif 2, mutagenesis site 2, sequence conflict 2, transit peptide 1, active site 1, site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5E26	X-RAY DIFFRACTION	2.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZ23-F1	73.99	0.56

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 (2): 338 (proton acceptor); 140–141 (cleavage; by mpp)

Ligand- & substrate-binding residues (3): 392; 395; 407

Post-translational modifications (3): 168, 169, 189

Mutagenesis-validated functional residues (2):

Position	Phenotype
82–94	loss of nuclear localization.
268–275	loss of export from nucleus.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-196783	Coenzyme A biosynthesis

MSigDB gene sets: 316 (showing top): MYAATNNNNNNNGGC_UNKNOWN, GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, FISCHER_G1_S_CELL_CYCLE, GOBP_COENZYME_A_METABOLIC_PROCESS, CGGAARNGGCNG_UNKNOWN, GCAAGGA_MIR502, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (10): angiogenesis (GO:0001525), mitochondrion organization (GO:0007005), spermatid development (GO:0007286), aerobic respiration (GO:0009060), coenzyme A biosynthetic process (GO:0015937), pantothenate metabolic process (GO:0015939), regulation of fatty acid metabolic process (GO:0019217), regulation of mitochondrial membrane potential (GO:0051881), regulation of triglyceride metabolic process (GO:0090207), obsolete regulation of bile acid metabolic process (GO:1904251)

GO Molecular Function (6): pantothenate kinase activity (GO:0004594), ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (6): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial intermembrane space (GO:0005758), cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Vitamin B5 (pantothenate) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of lipid metabolic process	2
intracellular membrane-bounded organelle	2
cytoplasm	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
organelle organization	1
germ cell development	1
spermatid differentiation	1
cellular respiration	1
coenzyme A metabolic process	1
sulfur compound biosynthetic process	1
purine-containing compound biosynthetic process	1
nucleoside phosphate biosynthetic process	1
modified amino acid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid metabolic process	1
regulation of ketone metabolic process	1
regulation of small molecule metabolic process	1
regulation of membrane potential	1
triglyceride metabolic process	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
mitochondrial envelope	1
organelle envelope lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1225 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PANK2	PLA2G6	O60733	958
PANK2	FTL	P02792	907
PANK2	COASY	Q13057	816
PANK2	C19orf12	Q9NSK7	811
PANK2	FA2H	Q7L5A8	736
PANK2	DCAF17	Q5H9S7	735
PANK2	WDR45	Q9Y484	712
PANK2	PPCS	Q9HAB8	710
PANK2	PPCDC	Q96CD2	695
PANK2	ATP13A2	Q9NQ11	692
PANK2	RNF24	Q9Y225	585
PANK2	CP	P00450	543
PANK2	VPS13A	Q96RL7	523
PANK2	FBXO7	Q9Y3I1	505
PANK2	NEMP1	O14524	499

IntAct

38 interactions, top by confidence:

A	B	Type	Score
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAE	SRSF10	psi-mi:“MI:0914”(association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
PANK2	YWHAZ	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAE	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
SAT2	PANK2	psi-mi:“MI:0915”(physical association)	0.400
PANK3	PANK2	psi-mi:“MI:0915”(physical association)	0.400
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
PANK2	UBB	psi-mi:“MI:0914”(association)	0.350
SCD	PANK1	psi-mi:“MI:0914”(association)	0.350
PANK2	VDAC1	psi-mi:“MI:0915”(physical association)	0.000
PANK2	LXN	psi-mi:“MI:0915”(physical association)	0.000
LXN	PANK2	psi-mi:“MI:0915”(physical association)	0.000
PANK2	QRICH2	psi-mi:“MI:0915”(physical association)	0.000
PANK2	RASGRF2	psi-mi:“MI:0915”(physical association)	0.000
YWHAG	PANK2	psi-mi:“MI:0915”(physical association)	0.000
DHX36	PANK2	psi-mi:“MI:0915”(physical association)	0.000
YWHAQ	PANK2	psi-mi:“MI:0915”(physical association)	0.000
PANK2	GIGYF1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (49): PANK2 (Affinity Capture-MS), PANK2 (Affinity Capture-MS), PANK2 (Affinity Capture-MS), UBB (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), PVRL2 (Affinity Capture-MS), PANK2 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), PANK2 (Affinity Capture-MS), PANK2 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), PANK2 (Affinity Capture-MS), CGN (Affinity Capture-MS), CBY1 (Affinity Capture-MS), PANK2 (Affinity Capture-RNA)

ESM2 similar proteins: A2YM35, A2ZVG7, A7XN92, B5X4Z4, C0PEY7, F4J117, O22793, O49196, O49562, O64903, O82169, O82290, P83643, Q00497, Q05609, Q0J709, Q0J7T6, Q0JJ01, Q0WTB4, Q10BX9, Q10S58, Q195N6, Q1JPN0, Q39218, Q42713, Q43295, Q5D0W8, Q5N941, Q651A1, Q67UU0, Q6H601, Q75HA6, Q75LD5, Q7XAP4, Q7XIT1, Q7XKR9, Q84JF0, Q84MH1, Q84N48, Q84W56

Diamond homologs: O74962, O80765, Q04430, Q08DA5, Q0J035, Q4R4U1, Q5R5F8, Q69TF4, Q7M753, Q80YV4, Q8K4K6, Q8L5Y9, Q8R2W9, Q8TE04, Q923S8, Q9BZ23, Q9H999, Q9NVE7, Q8EN08, B7H5Z8, B7IKP3, Q736G1, Q81C81, Q949P3, Q2FEZ8, Q2FWC7, Q2YUM3, Q5HE70, Q5HM92, Q6G7I0, Q6GEU5, Q7A4D4, Q8CRM3, Q8NVG0, Q99SC8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 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
Activation of BAD and translocation to mitochondria	6	169.2×	9e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	149.3×	1e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	149.3×	1e-10
Activation of BH3-only proteins	6	110.3×	7e-10
RHO GTPases activate PKNs	6	70.5×	1e-08
Intrinsic Pathway for Apoptosis	6	65.1×	1e-08
SARS-CoV-1-host interactions	6	39.0×	3e-07
Apoptosis	6	37.3×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	70.9×	5e-08
intracellular protein localization	7	23.6×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	71
Likely pathogenic	35
Uncertain significance	155
Likely benign	210
Benign	23

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1030294	NM_001386393.1(PANK2):c.905+1G>C	Pathogenic
1068023	NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)	Pathogenic
1323413	NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter)	Pathogenic
1363985	NM_001386393.1(PANK2):c.1086del (p.Phe362fs)	Pathogenic
1416528	NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)	Pathogenic
1419098	NM_001386393.1(PANK2):c.906-99_929del	Pathogenic
1439787	NM_001386393.1(PANK2):c.317dup (p.Asp107fs)	Pathogenic
1458749	NM_001386393.1(PANK2):c.652-1G>C	Pathogenic
1696025	NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)	Pathogenic
191359	NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)	Pathogenic
1933981	NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)	Pathogenic
2138325	NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)	Pathogenic
2138326	NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)	Pathogenic
2427434	NC_000020.10:g.(?3888553)(3888945_?)del	Pathogenic
2427435	NC_000020.10:g.(?3869748)(3891497_?)del	Pathogenic
2427436	NC_000020.10:g.(?3891204)(3893301_?)del	Pathogenic
2444001	NM_001386393.1(PANK2):c.1258G>A (p.Ala420Thr)	Pathogenic
2444304	NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)	Pathogenic
2506108	NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)	Pathogenic
2578555	NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)	Pathogenic
2719723	NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)	Pathogenic
2731213	NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)	Pathogenic
2736943	NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)	Pathogenic
2736944	NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)	Pathogenic
2740176	NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)	Pathogenic
2753178	NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)	Pathogenic
2833658	NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)	Pathogenic
2869523	NM_001386393.1(PANK2):c.1083-1G>A	Pathogenic
2869524	NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)	Pathogenic
2879639	NM_001386393.1(PANK2):c.604dup (p.Cys202fs)	Pathogenic

SpliceAI

1424 predictions. Top by Δscore:

Variant	Effect	Δscore
20:3889724:GCCGC:G	donor_gain	1.0000
20:3889727:GC:G	donor_gain	1.0000
20:3889729:G:GG	donor_gain	1.0000
20:3907922:TTAG:T	acceptor_loss	1.0000
20:3907923:TA:T	acceptor_loss	1.0000
20:3907924:A:AG	acceptor_gain	1.0000
20:3907924:A:T	acceptor_loss	1.0000
20:3907925:G:GT	acceptor_gain	1.0000
20:3907925:G:T	acceptor_loss	1.0000
20:3907925:GT:G	acceptor_gain	1.0000
20:3907925:GTT:G	acceptor_gain	1.0000
20:3907925:GTTT:G	acceptor_gain	1.0000
20:3907925:GTTTT:G	acceptor_gain	1.0000
20:3908044:G:GT	donor_gain	1.0000
20:3908111:G:GT	donor_gain	1.0000
20:3908127:G:GT	donor_gain	1.0000
20:3908267:G:GT	donor_gain	1.0000
20:3908279:G:GG	donor_gain	1.0000
20:3910575:A:AG	acceptor_gain	1.0000
20:3910576:G:GG	acceptor_gain	1.0000
20:3910576:GA:G	acceptor_gain	1.0000
20:3910576:GAT:G	acceptor_gain	1.0000
20:3910576:GATA:G	acceptor_gain	1.0000
20:3910711:TCAG:T	donor_gain	1.0000
20:3910826:ACTAG:A	donor_loss	1.0000
20:3910827:CTAGG:C	donor_loss	1.0000
20:3910828:TAGGT:T	donor_loss	1.0000
20:3910829:AGGTA:A	donor_loss	1.0000
20:3910830:GGTA:G	donor_loss	1.0000
20:3910831:G:GG	donor_gain	1.0000

AlphaMissense

2960 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:3907941:G:A	G215E	1.000
20:3908135:G:C	G280R	1.000
20:3908156:T:C	F287L	1.000
20:3908157:T:C	F287S	1.000
20:3908158:T:A	F287L	1.000
20:3908158:T:G	F287L	1.000
20:3910628:G:A	G345R	1.000
20:3910628:G:C	G345R	1.000
20:3910752:T:C	L386P	1.000
20:3910778:A:C	S395R	1.000
20:3910780:C:A	S395R	1.000
20:3910780:C:G	S395R	1.000
20:3910824:G:A	G410D	1.000
20:3912463:G:A	G414E	1.000
20:3912481:G:A	G420D	1.000
20:3912488:C:G	C422W	1.000
20:3912628:C:A	A469D	1.000
20:3916988:G:C	A492P	1.000
20:3917014:C:A	N500K	1.000
20:3917014:C:G	N500K	1.000
20:3917019:G:A	G502D	1.000
20:3917040:C:A	A509D	1.000
20:3918695:G:A	G521R	1.000
20:3918695:G:C	G521R	1.000
20:3918696:G:A	G521E	1.000
20:3918696:G:T	G521V	1.000
20:3918701:T:C	F523L	1.000
20:3918703:C:A	F523L	1.000
20:3918703:C:G	F523L	1.000
20:3907932:C:A	P212Q	0.999

dbSNP variants (sampled 300 via entrez): RS1000145218 (20:3927106 G>A), RS1000167324 (20:3887344 T>C,G), RS1000193200 (20:3912317 T>C,G), RS1000245631 (20:3924820 C>A,G,T), RS1000274316 (20:3887535 C>A,T), RS1000369982 (20:3922984 C>T), RS1000383870 (20:3929214 G>A), RS1000394601 (20:3892383 C>G,T), RS1000400728 (20:3909824 C>T), RS1000443688 (20:3923279 G>A), RS1000532334 (20:3911039 A>G), RS1000691962 (20:3915593 C>A), RS1000747163 (20:3913495 C>T), RS1000759813 (20:3917095 A>C), RS1000818254 (20:3929461 T>G)

Disease associations

OMIM: gene MIM:606157 | disease phenotypes: MIM:234200, MIM:607236, MIM:268000, MIM:613684, MIM:204000, MIM:120970

GenCC curated gene-disease

Disease	Classification	Inheritance
pantothenate kinase-associated neurodegeneration	Definitive	Autosomal recessive

Mondo (10): pantothenate kinase-associated neurodegeneration (MONDO:0009319), hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (MONDO:0011798), retinitis pigmentosa (MONDO:0019200), inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608), neurodegenerative disease (MONDO:0005559), Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (MONDO:0013364), dystonic disorder (MONDO:0003441), Leber congenital amaurosis (MONDO:0018998), cone-rod dystrophy (MONDO:0015993)

Orphanet (8): Pantothenate kinase-associated neurodegeneration (Orphanet:157850), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284), Rubinstein-Taybi syndrome (Orphanet:783), Leber congenital amaurosis (Orphanet:65), Cone rod dystrophy (Orphanet:1872), HARP syndrome (Orphanet:157855)

HPO phenotypes

91 total (30 of 91 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000157	Abnormality of the tongue
HP:0000273	Facial grimacing
HP:0000298	Mask-like facies
HP:0000488	Retinopathy
HP:0000510	Rod-cone dystrophy
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000580	Pigmentary retinopathy
HP:0000618	Blindness
HP:0000643	Blepharospasm
HP:0000648	Optic atrophy
HP:0000658	Eyelid apraxia
HP:0000709	Psychosis
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000722	Compulsive behaviors
HP:0000726	Dementia
HP:0000737	Irritability
HP:0000752	Hyperactivity
HP:0000953	Hyperpigmentation of the skin
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001268	Mental deterioration

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90011899_158	Aspartate aminotransferase levels	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D020821	Dystonic Disorders	C10.228.662.300
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D019636	Neurodegenerative Diseases	C10.574
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D006211	Pantothenate Kinase-Associated Neurodegeneration	C10.228.140.079.800; C10.228.140.744.320; C10.228.662.575; C10.574.500.700; C16.320.400.650
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C564603	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3407327 (SINGLE PROTEIN)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.04	IC50	92	nM	CHEMBL3410246

PubChem BioAssay actives

1 with measured affinity, of 1 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3-(4,6-dimethyl-3,7,8,10-tetrazatricyclo[7.4.0.02,7]trideca-1,3,5,8,10,12-hexaen-5-yl)-N-(3-methylsulfanylphenyl)propanamide	1196664: Inhibition of purified human Pank2 using d-[1-14C]pantothenate as substrate after 10 mins by radiochemical enzyme assay	ic50	0.0920	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Nickel	increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pantogab	decreases activity	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
abrine	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Vehicle Emissions	increases abundance, affects expression	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1
Demecolcine	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Piroxicam	increases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3413788	Binding	Inhibition of purified human Pank2 using d-[1-14C]pantothenate as substrate after 10 mins by radiochemical enzyme assay	A high-throughput screen reveals new small-molecule activators and inhibitors of pantothenate kinases. — J Med Chem

Cellosaurus cell lines

7 cell lines: 4 induced pluripotent stem cell, 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A4YW	IBMS-iPSC-070-02	Induced pluripotent stem cell	Female
CVCL_E2FY	HAP1 PANK2 (-) 1	Cancer cell line	Male
CVCL_E2FZ	HAP1 PANK2 (-) 2	Cancer cell line	Male
CVCL_E4U6	KOLF2.1J PANK2 28.2kbdel DEL/DEL	Induced pluripotent stem cell	Male
CVCL_E4W7	KOLF2.1J PANK2 C.1413-1G>T SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E4W8	KOLF2.1J PANK2 C.1413-1G>T SNV/WT	Induced pluripotent stem cell	Male
CVCL_IL04	GM17822	Transformed cell line	Female

Clinical trials (associated diseases)

242 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
NCT01741532	PHASE3	COMPLETED	Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
NCT02174848	PHASE3	COMPLETED	Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
NCT03041116	PHASE3	TERMINATED	Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Participants
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
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)
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye