MAPKAPK3

Summary

MAPKAPK3 (MAPK activated protein kinase 3, HGNC:6888) is a protein-coding gene on chromosome 3p21.2, encoding MAP kinase-activated protein kinase 3 (Q16644). Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation.

This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein.

Source: NCBI Gene 7867 — RefSeq curated summary.

At a glance

• Gene–disease (curated): patterned macular dystrophy 3 (Strong, GenCC)
• GWAS associations: 10
• Clinical variants (ClinVar): 321 total — 1 pathogenic
• Phenotypes (HPO): 6
• Druggable target: yes — 4 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001243925

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6888
Approved symbol	MAPKAPK3
Name	MAPK activated protein kinase 3
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	3pK, MAPKAP3, 3PK, MK-3, MK3
Ensembl gene	ENSG00000114738
Ensembl biotype	protein_coding
OMIM	602130
Entrez	7867

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 34 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000357955, ENST00000430409, ENST00000446044, ENST00000451680, ENST00000457064, ENST00000486712, ENST00000497283, ENST00000621469, ENST00000864518, ENST00000864519, ENST00000864520, ENST00000864521, ENST00000864522, ENST00000864523, ENST00000864524, ENST00000864525, ENST00000864526, ENST00000917295, ENST00000917296, ENST00000917297, ENST00000917298, ENST00000969052, ENST00000969053, ENST00000969054, ENST00000969055, ENST00000969056, ENST00000969057, ENST00000969058, ENST00000969059, ENST00000969060, ENST00000969061, ENST00000969062, ENST00000969063, ENST00000969064, ENST00000969065, ENST00000969066

RefSeq mRNA: 3 — MANE Select: NM_001243925 NM_001243925, NM_001243926, NM_004635

CCDS: CCDS2832

Canonical transcript exons

ENST00000621469 — 11 exons

Exon	Start	End
ENSE00003753285	50647894	50649291
ENSE00003846685	50617151	50617241
ENSE00003889507	50640366	50640505
ENSE00003889573	50642253	50642332
ENSE00003890691	50641707	50641771
ENSE00003890919	50645710	50645785
ENSE00003891335	50646740	50646825
ENSE00003892793	50647123	50647203
ENSE00003892916	50617514	50617784
ENSE00003895516	50646140	50646264
ENSE00003895620	50644409	50644532

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 98.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.4041 / max 669.3664, expressed in 1822 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36746	43.9376	1822
36747	4.5814	1283
36748	2.2849	688
36749	1.0693	357
36745	0.7152	238
36744	0.5095	242
36743	0.3063	148

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.90	gold quality
heart left ventricle	UBERON:0002084	98.35	gold quality
cardiac ventricle	UBERON:0002082	98.34	gold quality
body of tongue	UBERON:0011876	98.17	gold quality
gastrocnemius	UBERON:0001388	97.92	gold quality
monocyte	CL:0000576	97.45	gold quality
left ventricle myocardium	UBERON:0006566	97.45	gold quality
right atrium auricular region	UBERON:0006631	97.19	gold quality
cardiac atrium	UBERON:0002081	97.12	gold quality
muscle of leg	UBERON:0001383	97.09	gold quality
leukocyte	CL:0000738	97.08	gold quality
mononuclear cell	CL:0000842	97.08	gold quality
heart right ventricle	UBERON:0002080	97.00	gold quality
granulocyte	CL:0000094	96.81	gold quality
muscle organ	UBERON:0001630	96.75	gold quality
cervix squamous epithelium	UBERON:0006922	96.70	silver quality
heart	UBERON:0000948	96.59	gold quality
tibialis anterior	UBERON:0001385	96.53	gold quality
myocardium	UBERON:0002349	96.51	gold quality
triceps brachii	UBERON:0001509	96.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.28	gold quality
quadriceps femoris	UBERON:0001377	95.99	gold quality
vastus lateralis	UBERON:0001379	95.88	gold quality
tongue	UBERON:0001723	95.85	gold quality
skeletal muscle tissue	UBERON:0001134	95.81	gold quality
blood	UBERON:0000178	95.77	gold quality
biceps brachii	UBERON:0001507	95.14	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.08	gold quality
muscle tissue	UBERON:0002385	94.97	gold quality
deltoid	UBERON:0001476	94.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-6	yes	28.81
E-ANND-3	yes	8.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB5

miRNA regulators (miRDB)

56 targeting MAPKAPK3, 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-4692	100.00	67.32	2066
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-5190	99.15	67.76	1234
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-7153-3P	99.00	65.35	608

Literature-anchored findings (GeneRIF, showing 9)

• In the preconditioned heart, genes for MAPKAP kinase 3 were up-regulated. (PMID:11975836)
• 3pK is transported to the cytoplasm upon both stress and mitogenic stimulation. While kinetics of nuclear export are similar in both situations, the activation pattern differs substantially. (PMID:15302577)
• A high-resolution (1.9 A) crystal structure of the highly homologous MK3 in complex with a pharmaceutical lead compound is presented. (PMID:19937655)
• Identified CREB activators MAPKAPK3 and FHL5 as mediators of intimal hyperplasia in vein graft samples. (PMID:23127979)
• Hepatitis C virus core protein interacted with MAPKAPK3 through amino acid residues 41 to 75 of core and the N-terminal half of kinase domain of MAPKAPK3. (PMID:23487458)
• findings reveal MK2/MK3 as crucial stress-responsive kinases that promote autophagy through Beclin 1 S90 phosphorylation (PMID:25693418)
• MK3 modulation affects BMI1-dependent and independent cell cycle check-points (PMID:25853770)
• A dominant mutation in MAPKAPK3 causes a new retinal dystrophy involving Bruch’s membrane and retinal pigment epithelium. (PMID:26744326)
• The natural history of MCRPE is in relation to the role of MAPKAPK3 in BM modeling, vascular endothelial growth factor activity, retinal pigment epithelial responses (PMID:27474146)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mapkapk3	ENSDARG00000111612
mus_musculus	Mapkapk3	ENSMUSG00000032577
rattus_norvegicus	Mapkapk3	ENSRNOG00000014832
drosophila_melanogaster	MAPk-Ak2	FBGN0013987

Paralogs (6): DCX (ENSG00000077279), MKNK1 (ENSG00000079277), MAPKAPK5 (ENSG00000089022), MKNK2 (ENSG00000099875), CAMK4 (ENSG00000152495), MAPKAPK2 (ENSG00000162889)

Protein

Protein identifiers

MAP kinase-activated protein kinase 3 — Q16644 (reviewed: Q16644)

Alternative names: Chromosome 3p kinase

All UniProt accessions (4): C9J8E1, C9JPW3, Q16644, H7C0G6

UniProt curated annotations — full annotation on UniProt →

Function. Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity and level in protein expression are lower compared to MAPKAPK2. Phosphorylates HSP27/HSPB1, KRT18, KRT20, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to dissociate HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impair their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins, such as TTP/ZFP36, leading to regulate the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity leading to inhibition of dependent degradation of ARE-containing transcript. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. Also acts as a modulator of Polycomb-mediated repression.

Subunit / interactions. Heterodimer with p38-alpha/MAPK14. The heterodimer with p38-alpha/MAPK14 forms a stable complex: molecules are positioned ‘face to face’ so that the ATP-binding sites of both kinases are at the heterodimer interface. Interacts with TCF3 and with polycomb proteins, such as PCH2 and BMI1/PCGF4.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Widely expressed, with a higher expression level observed in heart and skeletal muscle. No expression in brain. Expressed in the retinal pigment epithelium.

Post-translational modifications. Phosphorylated and activated by MAPK1/ERK2 and MAPK3/ERK1. Phosphorylated and activated by MAP kinase p38-alpha/MAPK14 at Thr-201, Ser-251 and Thr-313.

Disease relevance. Macular dystrophy, patterned, 3 (MDPT3) [MIM:617111] A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch’s membrane changes resembling a ‘dry desert land’. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated following phosphorylation by p38-alpha/MAPK14 following various stresses. Inhibited by ligand 5B (2’-[2-(1,3-benzodioxol-5-yl)pyrimidin-4-yl]-5’,6’-dihydrospiro[piperidine-4,7’-pyrrolo[3,2-c]pyridin]- 4’(1’h)-one) and ligand P4O (2-[2-(2-fluorophenyl)pyridin-4-yl]-1,5,6,7-tetrahydro- 4h-pyrrolo[3,2-c]pyridin-4-one), 2 ATP-competitive inhibitors.

Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.

RefSeq proteins (3): NP_001230854, NP_001230855, NP_004626 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR027442	MAPKAPK_C	Homologous_superfamily

Pfam: PF00069

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (49 total): helix 14, strand 9, modified residue 5, sequence variant 4, region of interest 4, short sequence motif 3, compositionally biased region 2, binding site 2, turn 2, chain 1, domain 1, active site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
3FHR	X-RAY DIFFRACTION	1.9
7NRB	X-RAY DIFFRACTION	1.9
3FXW	X-RAY DIFFRACTION	2
3R1N	X-RAY DIFFRACTION	2.09
3SHE	X-RAY DIFFRACTION	2.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16644-F1	83.10	0.59

Functional residue map

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

Catalytic / active sites (1): 166 (proton acceptor)

Ligand- & substrate-binding residues (2): 50–58; 73

Post-translational modifications (5): 1, 201, 251, 307, 313

Mutagenesis-validated functional residues (1):

Position	Phenotype
73	higher affinity toward pch2.

Function

Pathways and Gene Ontology

Reactome pathways

36 pathways

ID	Pathway
R-HSA-171007	p38MAPK events
R-HSA-2559580	Oxidative Stress Induced Senescence
R-HSA-4420097	VEGFA-VEGFR2 Pathway
R-HSA-450302	activated TAK1 mediates p38 MAPK activation
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-162582	Signal Transduction
R-HSA-166016	Toll Like Receptor 4 (TLR4) Cascade
R-HSA-166058	MyD88:MAL(TIRAP) cascade initiated on plasma membrane
R-HSA-166166	MyD88-independent TLR4 cascade
R-HSA-166520	Signaling by NTRKs
R-HSA-167044	Signalling to RAS
R-HSA-168138	Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168142	Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168164	Toll Like Receptor 3 (TLR3) Cascade
R-HSA-168176	Toll Like Receptor 5 (TLR5) Cascade
R-HSA-168179	Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168181	Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-168188	Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168898	Toll-like Receptor Cascades
R-HSA-181438	Toll Like Receptor 2 (TLR2) Cascade
R-HSA-187037	Signaling by NTRK1 (TRKA)
R-HSA-187687	Signalling to ERKs
R-HSA-194138	Signaling by VEGF
R-HSA-2262752	Cellular responses to stress
R-HSA-2559583	Cellular Senescence
R-HSA-448424	Interleukin-17 signaling
R-HSA-449147	Signaling by Interleukins
R-HSA-450294	MAP kinase activation

MSigDB gene sets: 315 (showing top): GOBP_PINOCYTOSIS, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, MODULE_151, KEGG_MAPK_SIGNALING_PATHWAY, MODULE_45, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_16, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (9): MAPK cascade (GO:0000165), toll-like receptor signaling pathway (GO:0002224), signal transduction (GO:0007165), response to lipopolysaccharide (GO:0032496), response to cytokine (GO:0034097), intracellular signal transduction (GO:0035556), macropinocytosis (GO:0044351), vascular endothelial growth factor receptor signaling pathway (GO:0048010), protein phosphorylation (GO:0006468)

GO Molecular Function (13): protein serine/threonine kinase activity (GO:0004674), calcium/calmodulin-dependent protein kinase activity (GO:0004683), MAP kinase kinase activity (GO:0004708), calmodulin binding (GO:0005516), ATP binding (GO:0005524), calcium-dependent protein serine/threonine kinase activity (GO:0009931), mitogen-activated protein kinase binding (GO:0051019), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Toll-like Receptor Cascades	6
Immune System	2
Toll Like Receptor 4 (TLR4) Cascade	2
Toll Like Receptor 2 (TLR2) Cascade	2
Signalling to RAS	1
Cellular Senescence	1
Signaling by VEGF	1
MAP kinase activation	1
Toll Like Receptor TLR1:TLR2 Cascade	1
Toll Like Receptor TLR6:TLR2 Cascade	1
Signaling by Receptor Tyrosine Kinases	1
Signalling to ERKs	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular anatomical structure	2
protein kinase activity	2
protein serine/threonine kinase activity	2
intracellular signaling cassette	1
pattern recognition receptor signaling pathway	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to molecule of bacterial origin	1
response to lipid	1
response to oxygen-containing compound	1
response to peptide	1
signal transduction	1
pinocytosis	1
cell surface receptor protein tyrosine kinase signaling pathway	1
phosphorylation	1
protein modification process	1
MAPK cascade	1
protein serine/threonine/tyrosine kinase activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein kinase binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAPKAPK3	RCSD1	Q6JBY9	691
MAPKAPK3	CAPZA1	P52907	556
MAPKAPK3	ATF1	P18846	536
MAPKAPK3	CREB1	P16220	474
MAPKAPK3	RASGRP4	Q8TDF6	465
MAPKAPK3	LEO1	Q8WVC0	440
MAPKAPK3	MAP2K3	P46734	440
MAPKAPK3	CDC25B	P30305	433
MAPKAPK3	TAB1	Q15750	431
MAPKAPK3	LGALS4	P56470	425
MAPKAPK3	PPM1A	P35813	422
MAPKAPK3	DOCK3	Q8IZD9	398
MAPKAPK3	RASGRP1	O95267	387
MAPKAPK3	HSPB1	P04792	381
MAPKAPK3	GYG1	P46976	355

IntAct

68 interactions, top by confidence:

A	B	Type	Score
MAPK14	MAPKAPK2	psi-mi:“MI:0914”(association)	0.940
MAPK14	MAPKAPK3	psi-mi:“MI:0915”(physical association)	0.920
MAPK14	MAPKAPK3	psi-mi:“MI:2364”(proximity)	0.920
PEA15	MAPK1	psi-mi:“MI:0914”(association)	0.900
MAPK14	RPS6KA4	psi-mi:“MI:0914”(association)	0.870
MAPK11	MAPKAPK3	psi-mi:“MI:0915”(physical association)	0.870
MAPKAPK3	MAPK11	psi-mi:“MI:0914”(association)	0.870
MAPKAPK3	MAPK11	psi-mi:“MI:0915”(physical association)	0.870
	RAB8A	psi-mi:“MI:0217”(phosphorylation reaction)	0.820
MAPK14	MAP2K3	psi-mi:“MI:0914”(association)	0.800
	RAB8A	psi-mi:“MI:0217”(phosphorylation reaction)	0.790
MAPK14	OBSL1	psi-mi:“MI:0914”(association)	0.790
RHOC	RAP1GDS1	psi-mi:“MI:0914”(association)	0.730
MAPK14	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
	MAPKAPK3	psi-mi:“MI:0915”(physical association)	0.620
MAPKAPK3		psi-mi:“MI:0915”(physical association)	0.620
MAPKAPK3	HSPB1	psi-mi:“MI:0217”(phosphorylation reaction)	0.570
MAPKAPK3	HSPB1	psi-mi:“MI:2364”(proximity)	0.570
MAPKAPK3	PRKY	psi-mi:“MI:0914”(association)	0.530
TPD52L1	TPD52L2	psi-mi:“MI:0914”(association)	0.530

BioGRID (78): MAPKAPK3 (Affinity Capture-MS), MAPKAPK3 (Affinity Capture-MS), PRKY (Affinity Capture-MS), MAPK11 (Affinity Capture-MS), MAPKAPK3 (Biochemical Activity), MAPKAPK3 (Affinity Capture-MS), MAPKAPK3 (Co-localization), MAPKAPK3 (Co-localization), MAPKAPK3 (Co-localization), MAPKAPK3 (Affinity Capture-MS), ATF1 (Biochemical Activity), MAPKAPK3 (Two-hybrid), MAPKAPK3 (Affinity Capture-Western), RCSD1 (Biochemical Activity), BECN1 (Biochemical Activity)

ESM2 similar proteins: A0A8C0TYJ0, A0A8I5ZNK2, A5D7H2, O55047, O88506, O94806, O95747, P00535, P11273, P32298, P34947, P43249, P49137, Q08CW1, Q12959, Q13033, Q15139, Q15700, Q16644, Q1ECX4, Q28C55, Q3SYZ2, Q3UMW7, Q5PYH5, Q5PYH6, Q5R372, Q5R495, Q5RCW6, Q5XIS9, Q62101, Q62696, Q62833, Q63622, Q66H84, Q6P9R2, Q811D0, Q863I2, Q86UE8, Q8BZ03, Q8C0V0

Diamond homologs: A0A509AFG4, A0A509AQE6, A0A5K1K8H0, A2ZVI7, D2I3C6, O08605, O15075, O15865, O54992, O75582, O75676, O77708, P08413, P10665, P11275, P11798, P11801, P15791, P18652, P18653, P18654, P25323, P28582, P28652, P49137, P49138, P49139, P51812, P53683, P62345, Q06850, Q0V7M1, Q13554, Q13557, Q15349, Q15418, Q16644, Q18846, Q2HJF7, Q38868

SIGNOR signaling

9 interactions.

A	Effect	B	Mechanism
CREB5	“up-regulates quantity by expression”	MAPKAPK3	“transcriptional regulation”
MAPKAPK3	“up-regulates activity”	BECN1	phosphorylation
MAPK14	“up-regulates activity”	MAPKAPK3	phosphorylation
MAPKAPK3	unknown	EEF2K	phosphorylation
MAPKAPK3	unknown	HSPB1	phosphorylation
MAPKAPK3	“down-regulates activity”	RCSD1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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
Signalling to ERKs	6	82.0×	8e-09
Signalling to RAS	5	76.3×	1e-07
ERK/MAPK targets	5	76.3×	1e-07
MAPK targets/ Nuclear events mediated by MAP kinases	6	74.2×	1e-08
MAP kinase activation	7	49.1×	8e-09
Nuclear Events (kinase and transcription factor activation)	6	47.2×	9e-08
Interleukin-17 signaling	7	40.4×	2e-08
Signaling by NTRKs	9	37.1×	9e-10

GO biological processes:

GO term	Partners	Fold	FDR
MAPK cascade	7	22.8×	1e-05
protein phosphorylation	6	8.7×	3e-03
intracellular signal transduction	10	8.1×	7e-05
DNA damage response	6	6.8×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	189
Likely benign	98
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
254177	NM_001243925.2(MAPKAPK3):c.518T>C (p.Leu173Pro)	Pathogenic

SpliceAI

2578 predictions. Top by Δscore:

Variant	Effect	Δscore
3:50611626:CTTA:C	donor_loss	1.0000
3:50611627:TTA:T	donor_loss	1.0000
3:50611628:TA:T	donor_loss	1.0000
3:50611629:A:AC	donor_gain	1.0000
3:50611629:A:AG	donor_loss	1.0000
3:50611629:AC:A	donor_gain	1.0000
3:50611629:ACC:A	donor_gain	1.0000
3:50611630:C:CC	donor_gain	1.0000
3:50611630:CC:C	donor_gain	1.0000
3:50611630:CCC:C	donor_gain	1.0000
3:50641705:A:AG	acceptor_gain	1.0000
3:50641706:G:GG	acceptor_gain	1.0000
3:50642242:T:A	acceptor_gain	1.0000
3:50642248:T:TA	acceptor_gain	1.0000
3:50642248:TGCAG:T	acceptor_loss	1.0000
3:50642250:CA:C	acceptor_loss	1.0000
3:50642250:CAGAA:C	acceptor_gain	1.0000
3:50642251:A:AG	acceptor_gain	1.0000
3:50642251:AGAAG:A	acceptor_gain	1.0000
3:50642252:G:GA	acceptor_gain	1.0000
3:50642252:GA:G	acceptor_gain	1.0000
3:50642252:GAA:G	acceptor_gain	1.0000
3:50642252:GAAGC:G	acceptor_gain	1.0000
3:50642330:AAG:A	donor_loss	1.0000
3:50642333:G:T	donor_loss	1.0000
3:50644401:T:A	acceptor_gain	1.0000
3:50644402:G:A	acceptor_gain	1.0000
3:50644405:CCAGC:C	acceptor_loss	1.0000
3:50644407:A:AG	acceptor_gain	1.0000
3:50644407:AGCCT:A	acceptor_gain	1.0000

AlphaMissense

2517 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:50617784:G:C	K73N	1.000
3:50617784:G:T	K73N	1.000
3:50642322:G:C	R165P	1.000
3:50642325:A:C	D166A	1.000
3:50642325:A:G	D166G	1.000
3:50642325:A:T	D166V	1.000
3:50642326:T:A	D166E	1.000
3:50642326:T:G	D166E	1.000
3:50642332:G:C	K168N	1.000
3:50642332:G:T	K168N	1.000
3:50644415:A:G	N171D	1.000
3:50644417:C:A	N171K	1.000
3:50644417:C:G	N171K	1.000
3:50644419:T:C	L172P	1.000
3:50644463:G:C	D187H	1.000
3:50644464:A:C	D187A	1.000
3:50644464:A:G	D187G	1.000
3:50644464:A:T	D187V	1.000
3:50644465:T:A	D187E	1.000
3:50644465:T:G	D187E	1.000
3:50644472:T:C	F190L	1.000
3:50644474:T:A	F190L	1.000
3:50644474:T:G	F190L	1.000
3:50645713:C:A	P211H	1.000
3:50645757:T:A	W226R	1.000
3:50645757:T:C	W226R	1.000
3:50645759:G:C	W226C	1.000
3:50645759:G:T	W226C	1.000
3:50645766:G:C	G229R	1.000
3:50645767:G:A	G229D	1.000

dbSNP variants (sampled 300 via entrez): RS1000030132 (3:50618742 T>A,C,G), RS1000312813 (3:50627517 C>A), RS1000318795 (3:50648582 C>T), RS1000420183 (3:50611502 T>C), RS1000567382 (3:50620717 C>T), RS1000611838 (3:50624021 G>A,C), RS1000679591 (3:50631136 G>A), RS1000772455 (3:50630835 C>G), RS1000994120 (3:50635560 G>A), RS1001031191 (3:50616871 T>C), RS1001083606 (3:50616171 G>A), RS1001344520 (3:50634390 A>G), RS1001376004 (3:50648939 T>G), RS1001644100 (3:50612637 G>A), RS1001697209 (3:50626613 C>A)

Disease associations

OMIM: gene MIM:602130 | disease phenotypes: MIM:617111

GenCC curated gene-disease

Disease	Classification	Inheritance
patterned macular dystrophy 3	Strong	Autosomal dominant

Mondo (2): patterned macular dystrophy 3 (MONDO:0014920), inherited retinal dystrophy (MONDO:0019118)

Orphanet (2): Martinique crinkled retinal pigment epitheliopathy (Orphanet:466718), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

6 total (7 of 6 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000510	Rod-cone dystrophy
HP:0007401	Macular atrophy
HP:0007663	Reduced visual acuity
HP:0011462	Young adult onset
HP:0011506	Choroidal neovascularization
HP:0000556	Retinal dystrophy

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST005860_2	Cholangiocarcinoma in primary sclerosing cholangitis (time to event)	4.000000e-06
GCST008843_1	Depressive symptom (appetite changes) (binary trait)	9.000000e-09
GCST008848_2	Depressive symptoms (sum-score)	1.000000e-09
GCST008849_3	Depressive symptoms (binary sum-score)	1.000000e-10
GCST010698_80	Subcortical volume (min-P)	3.000000e-24
GCST010699_110	Brain morphology (min-P)	4.000000e-08
GCST010701_52	Cortical surface area (MOSTest)	1.000000e-16
GCST010702_36	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_262	Brain morphology (MOSTest)	2.000000e-13
GCST90002385_430	High light scatter reticulocyte count	8.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007006	depressive symptom measurement
EFO:0004346	neuroimaging measurement
EFO:0007986	reticulocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4670 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

4 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 4,730 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL3544983	TESEVATINIB	3	2,819
CHEMBL1230165	SILMITASERTIB	2	593
CHEMBL1980715	LAUROGUADINE	2	294
CHEMBL206834	BAFETINIB	2	1,024

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — MAPKAPK subfamily

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
compound 16 [PMID: 17480064]	Inhibition	6.68	pIC50

Binding affinities (BindingDB)

4 measured of 5 human assays (5 total across all organisms); most potent 4 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
Pyrrolopyridine, 16	IC50	8.5 nM
JMC502647 Compound 8	IC50	10 nM
Pyrrolopyridine, 9	IC50	66 nM
Pyrrolopyridine, 23	IC50	126 nM

ChEMBL bioactivities

71 potent at pChembl≥5 of 77 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.70	Kd	2	nM	TESEVATINIB
7.64	Kd	23	nM	BAFETINIB
7.58	Kd	26	nM	SILMITASERTIB
7.30	Ki	50.12	nM	CHEMBL1978448
7.28	IC50	53	nM	CHEMBL1231206
6.80	IC50	159	nM	CHEMBL1231206
6.80	IC50	160	nM	CHEMBL1231206
6.80	Ki	158.5	nM	CHEMBL539474
6.80	Ki	158.5	nM	CHEMBL2000685
6.80	Ki	158.5	nM	CHEMBL226403
6.68	IC50	210	nM	CHEMBL226403
6.67	IC50	213	nM	CHEMBL3263640
6.60	Ki	251.2	nM	CHEMBL1988173
6.40	Ki	398.1	nM	CHEMBL1996831
6.20	Ki	631	nM	CHEMBL2006263
6.20	Ki	631	nM	CHEMBL1991728
6.18	IC50	660	nM	CHEMBL388566
6.10	Ki	794.3	nM	CHEMBL1983195
5.96	IC50	1100	nM	CHEMBL226471
5.90	IC50	1260	nM	CHEMBL1231206
5.90	Ki	1259	nM	CHEMBL1997129
5.83	IC50	1480	nM	CHEMBL5085753
5.80	Ki	1585	nM	CHEMBL2000832
5.80	Ki	1585	nM	CHEMBL1969537
5.80	Ki	1585	nM	CHEMBL1966722
5.80	Ki	1585	nM	CHEMBL2004544
5.80	Ki	1585	nM	CHEMBL592030
5.80	Ki	1585	nM	LAUROGUADINE
5.70	IC50	2000	nM	STAUROSPORINE
5.70	Ki	1995	nM	CHEMBL1980371
5.70	Ki	1995	nM	CHEMBL1975138
5.68	IC50	2090	nM	CHEMBL1231206
5.64	IC50	2300	nM	CHEMBL6043204
5.60	Ki	2512	nM	CHEMBL1993166
5.60	Ki	2512	nM	CHEMBL226471
5.60	Ki	2512	nM	CHEMBL1973711
5.56	IC50	2780	nM	CHEMBL1231206
5.54	IC50	2900	nM	STAUROSPORINE
5.54	IC50	2900	nM	CHEMBL6062934
5.50	Ki	3162	nM	CHEMBL1989805
5.50	Ki	3162	nM	CHEMBL2006156
5.50	Ki	3162	nM	CHEMBL590109
5.45	IC50	3550	nM	STAUROSPORINE
5.42	IC50	3800	nM	CHEMBL590109
5.40	Ki	3981	nM	CHEMBL1996979
5.40	Ki	3981	nM	CHEMBL1972152
5.39	IC50	4100	nM	CHEMBL5770842
5.34	IC50	4520	nM	CHEMBL236902
5.30	Ki	5012	nM	CHEMBL207995
5.30	Ki	5012	nM	CHEMBL2000481

PubChem BioAssay actives

17 with measured affinity, of 1486 total; 12 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
7-[[(3aS,6aR)-2-methyl-3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]pyrrol-5-yl]methoxy]-N-(3,4-dichloro-2-fluorophenyl)-6-methoxyquinazolin-4-amine	1425066: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0020	uM
4-[[(3S)-3-(dimethylamino)pyrrolidin-1-yl]methyl]-N-[4-methyl-3-[(4-pyrimidin-5-ylpyrimidin-2-yl)amino]phenyl]-3-(trifluoromethyl)benzamide	1425066: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0230	uM
5-(3-chloroanilino)benzo[c][2,6]naphthyridine-8-carboxylic acid	1425066: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0260	uM
(15R)-15-methyl-5-(6-methyl-3-pyridinyl)-11-thia-6,14,17-triazatetracyclo[8.8.0.02,7.012,18]octadeca-1(10),2(7),3,5,8,12(18)-hexaen-13-one	2167718: Inhibition of recombinant MK3 (unknown origin) expressed in Escherichia coli using KKKALSRQLSVAA as substrate incubated for 1 hr followed by substrate addition in presence of ATP	ic50	0.0530	uM
2-(2-quinolin-3-yl-4-pyridinyl)-1,5,6,7-tetrahydropyrrolo[3,2-c]pyridin-4-one	1799072: Kinase Selectivity Assay from Article 10.1021/jm0611004: “Pyrrolopyridine inhibitors of mitogen-activated protein kinase-activated protein kinase 2 (MK-2).”	ic50	0.2100	uM
4-tert-butyl-N-[2-methyl-3-[6-[4-(morpholine-4-carbonyl)anilino]-7H-purin-2-yl]phenyl]benzamide	1139059: Inhibition of MAPKAPK3 (unknown origin)	ic50	0.2130	uM
2-(2-phenyl-4-pyridinyl)-1,5,6,7-tetrahydropyrrolo[3,2-c]pyridin-4-one	1799072: Kinase Selectivity Assay from Article 10.1021/jm0611004: “Pyrrolopyridine inhibitors of mitogen-activated protein kinase-activated protein kinase 2 (MK-2).”	ic50	0.6600	uM
2-[2-(2-fluorophenyl)-4-pyridinyl]-1,5,6,7-tetrahydropyrrolo[3,2-c]pyridin-4-one	1799072: Kinase Selectivity Assay from Article 10.1021/jm0611004: “Pyrrolopyridine inhibitors of mitogen-activated protein kinase-activated protein kinase 2 (MK-2).”	ic50	1.1000	uM
2-(2,6-diethylphenyl)-7-[2-[2-methoxy-4-[4-(6-methyl-2,6-diazaspiro[3.3]heptane-2-carbonyl)piperidin-1-yl]anilino]-7H-pyrrolo[2,3-d]pyrimidin-4-yl]-3,4-dihydropyrrolo[1,2-a]pyrazin-1-one	1815051: Inhibition of MAPKAPK3 (unknown origin) by Z-lyte assay	ic50	1.4800	uM
(2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	1715287: Inhibition of human MAPKAPK3 using KKLNRTLSVA as substrate by [gamma-33P]-ATP assay	ic50	2.0000	uM
5-(2-aminoethyl)-7-[7-(1-benzothiophen-2-yl)-1H-indazol-5-yl]pyrrolo[3,2-d]pyrimidin-2-amine	455886: Inhibition of MK3	ic50	3.8000	uM
benzyl (2S)-4-[5-[(2-aminophenyl)carbamoyl]-2-pyridinyl]-2-methylpiperazine-1-carboxylate	301157: Activity against human MAPK3	ic50	4.5200	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases reaction, increases activity, decreases expression	3
Valproic Acid	increases expression, affects expression	3
Cyclosporine	affects cotreatment, increases expression	3
Acetaminophen	decreases expression, affects cotreatment, increases expression	2
Chenodeoxycholic Acid	affects cotreatment, increases expression	2
Deoxycholic Acid	affects cotreatment, increases expression	2
Glycochenodeoxycholic Acid	affects cotreatment, increases expression	2
Glycocholic Acid	affects cotreatment, increases expression	2
Glycodeoxycholic Acid	increases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
bisphenol A	increases expression	1
beta-lapachone	increases expression	1
nickel sulfate	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
nefazodone	affects cotreatment, increases expression	1
SB 203580	decreases reaction, increases activity	1
ICG 001	increases expression	1
bisphenol S	decreases methylation, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Atazanavir Sulfate	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1

ChEMBL screening assays

239 unique, capped per target: 232 binding, 7 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1003337	Binding	Inhibition of MAPKAP-K3 at 1 uM relative to control	Novel potent BRAF inhibitors: toward 1 nM compounds through optimization of the central phenyl ring. — J Med Chem
CHEMBL1963781	Functional	PUBCHEM_BIOASSAY: Navigating the Kinome. (Class of assay: other) Panel member name: MAPKAPK3	PubChem BioAssay data set

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7UR	Ubigene A-549 MAPKAPK3 KO	Cancer cell line	Male
CVCL_D8QB	Ubigene HCT 116 MAPKAPK3 KO	Cancer cell line	Male
CVCL_D9JU	Ubigene HEK293 MAPKAPK3 KO	Transformed cell line	Female
CVCL_E0HL	Ubigene HeLa MAPKAPK3 KO	Cancer cell line	Female
CVCL_SX06	HAP1 MAPKAPK3 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality