CD63

Summary

CD63 (CD63 molecule, HGNC:1692) is a protein-coding gene on chromosome 12q13.2, encoding CD63 antigen (P08962). Functions as a cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades.

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms.

Source: NCBI Gene 967 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 49 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001780

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1692
Approved symbol	CD63
Name	CD63 molecule
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	ME491, TSPAN30, HOP-26, Pltgp40, AD1
Ensembl gene	ENSG00000135404
Ensembl biotype	protein_coding
OMIM	155740
Entrez	967

Gene structure

Transcript identifiers

Ensembl transcripts: 46 — 43 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000257857, ENST00000420846, ENST00000546457, ENST00000546939, ENST00000548117, ENST00000548160, ENST00000548898, ENST00000549117, ENST00000550050, ENST00000550776, ENST00000551173, ENST00000552067, ENST00000552164, ENST00000552692, ENST00000552754, ENST00000555199, ENST00000866659, ENST00000866660, ENST00000866661, ENST00000866662, ENST00000866663, ENST00000866664, ENST00000866665, ENST00000866666, ENST00000866667, ENST00000866668, ENST00000866669, ENST00000866670, ENST00000866671, ENST00000866672, ENST00000866673, ENST00000866674, ENST00000866675, ENST00000922866, ENST00000922867, ENST00000922868, ENST00000922869, ENST00000922870, ENST00000922871, ENST00000922872, ENST00000922873, ENST00000922874, ENST00000922875, ENST00000922876, ENST00000922877, ENST00000944923

RefSeq mRNA: 16 — MANE Select: NM_001780 NM_001257389, NM_001257390, NM_001257391, NM_001257392, NM_001257400, NM_001257401, NM_001267698, NM_001413281, NM_001413282, NM_001413283, NM_001413284, NM_001413285, NM_001413286, NM_001413287, NM_001413288, NM_001780

CCDS: CCDS58242, CCDS58243, CCDS8890

Canonical transcript exons

ENST00000257857 — 8 exons

Exon	Start	End
ENSE00000920077	55728276	55728352
ENSE00001517772	55728953	55729009
ENSE00002325261	55725323	55725626
ENSE00003477196	55726121	55726261
ENSE00003489755	55725813	55725896
ENSE00003567727	55727151	55727339
ENSE00003590609	55726700	55726795
ENSE00003691001	55726890	55726964

Expression profiles

Bgee: expression breadth ubiquitous, 305 present calls, max score 99.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 409.9608 / max 2987.6829, expressed in 1828 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131431	365.3902	1828
131430	29.8247	1770
131424	7.0541	1622
131427	2.8257	1088
131432	1.8826	1123
131429	0.8830	485
131428	0.5820	296
131426	0.3501	178
131415	0.3042	77
131422	0.2717	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.92	gold quality
tendon of biceps brachii	UBERON:0008188	99.85	gold quality
adult organism	UBERON:0007023	99.79	gold quality
type B pancreatic cell	CL:0000169	99.78	gold quality
islet of Langerhans	UBERON:0000006	99.78	gold quality
lower lobe of lung	UBERON:0008949	99.77	gold quality
left adrenal gland	UBERON:0001234	99.74	gold quality
olfactory bulb	UBERON:0002264	99.74	gold quality
upper lobe of lung	UBERON:0008948	99.74	gold quality
thoracic aorta	UBERON:0001515	99.73	gold quality
descending thoracic aorta	UBERON:0002345	99.73	gold quality
decidua	UBERON:0002450	99.73	gold quality
upper lobe of left lung	UBERON:0008952	99.73	gold quality
smooth muscle tissue	UBERON:0001135	99.72	gold quality
ascending aorta	UBERON:0001496	99.72	gold quality
left adrenal gland cortex	UBERON:0035825	99.72	gold quality
right adrenal gland	UBERON:0001233	99.71	gold quality
adrenal cortex	UBERON:0001235	99.71	gold quality
cardiac atrium	UBERON:0002081	99.71	gold quality
corpus epididymis	UBERON:0004359	99.71	gold quality
right atrium auricular region	UBERON:0006631	99.71	gold quality
gall bladder	UBERON:0002110	99.70	gold quality
adrenal gland	UBERON:0002369	99.70	gold quality
myometrium	UBERON:0001296	99.69	gold quality
coronary artery	UBERON:0001621	99.69	gold quality
left coronary artery	UBERON:0001626	99.69	gold quality
synovial joint	UBERON:0002217	99.69	gold quality
nasal cavity epithelium	UBERON:0005384	99.69	gold quality
right adrenal gland cortex	UBERON:0035827	99.69	gold quality
endocervix	UBERON:0000458	99.68	gold quality

Single-cell (SCXA)

Detected in 47 experiment(s), a significant marker in 28.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	4163.56
E-GEOD-84465	yes	3824.37
E-MTAB-8142	yes	2911.04
E-HCAD-1	yes	2568.79
E-GEOD-139324	yes	2403.00
E-MTAB-10042	yes	1695.24
E-MTAB-10432	yes	1557.93
E-CURD-88	yes	1508.06
E-HCAD-5	yes	1331.97
E-HCAD-8	yes	994.98
E-CURD-77	yes	436.86
E-HCAD-4	yes	213.11
E-MTAB-8410	yes	71.46
E-CURD-122	yes	69.33
E-MTAB-10553	yes	44.20

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BCL6, MYC

miRNA regulators (miRDB)

12 targeting CD63, 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-5692A	100.00	74.40	6850
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-1468-5P	94.18	69.04	176

Literature-anchored findings (GeneRIF, showing 40)

• Results show that AP-3 is absolutely required for the delivery of CD63 to lysosomes via the trans-Golgi network. (PMID:11907283)
• C-kit is physically associated with transmembrane 4 superfamily proteins CD9, CD63, and CD81, that may negatively modulate c-kit and thus regulate c-kit receptor sensitivity to SLF in hematopoietic progenitors. (PMID:12036870)
• downregulation of CD63 antigen is associated with breast tumor progression (PMID:12579280)
• possible role in HIV-1 infections specific for macrophages (PMID:12610138)
• Post-translational modification of CD63 may be involved in the functional and morphological changes of MHC class II compartments that occur during dendritic cell maturation (PMID:12755696)
• relationships between the expression levels of CD61, CD63, and PAC-1 on the platelet surface and the incidences of acute rejection and tubular necrosis as well as the recovery of graft function after renal transplantation (PMID:12826159)
• Upon platelet interaction with fibrinogen, cholesterol accumulated at the tips of filopodia and at the leading edge of spreading cells; cholesterol-rich raft aggregation was accompanied by concentration of c-Src and CD63 in these cell domains (PMID:12871315)
• The study on CD63 included its chemistry eg. if it had and O-linked carbohydrate that was digested with O-glycanase. (PMID:12974720)
• CD63 serves as an adaptor protein that links its interaction partners to the endocytic machinery of the cell. (PMID:14660791)
• results suggest that CD9, CD63, CD81, and CD82 could play a role in modulating the interactions between immature DCs and their environment, slowing their migratory ability. However, only CD63 would intervene in the internalization of complex antigens (PMID:15130945)
• Constitutive expression of CD63 may indicate that this factor does not play a direct role in thyroid carcinogenesis (PMID:15375577)
• CD63 represents an activation-induced reinforcing element, whose triggering promotes sustained and efficient T cell activation and expansion. (PMID:15528334)
• The linkage of CD63 with PI 4-kinase may result in the recruitment of this signaling enzyme to specific membrane locations in the platelet where it influences phosphoinositide-dependent signaling and platelet spreading. (PMID:15711748)
• This study identifies a trafficking pathway from CD63-positive multivesicular bodies to the bacterial inclusion, a novel interaction that provides essential lipids necessary for maintenance of a productive intracellular infection. (PMID:16410552)
• CD63 is recruited to already-budded Weibel-Palade bodies by an AP-3-dependent route (PMID:16683915)
• CD63-syntenin-1 complex is abundant on the plasma membrane (PMID:16908530)
• CD63 is a cell surface binding partner for TIMP-1, regulating cell survival and polarization via TIMP-1 modulation of tetraspanin/integrin signaling complex. (PMID:16917503)
• Chronic urticaria serum-induced CD63 expression assay performed on atopic whole blood by means of tricolor flow cytometry could be the most useful tool for identification of a subset of patients with autoimmune chronic urticaria. (PMID:16918509)
• In conclusion, using well-defined experimental conditions, the measurement of CD203c up-regulation on basophils in response to specific allergens is as reliable as CD63-BAT for the in vitro diagnosis of patients with IgE-mediated allergy. (PMID:17275019)
• positive correlation between CD63 and erythrocyte sedimentation rate in rheumatoid arthritis (PMID:17279322)
• Results suggest that CD63 can be a biomarker for predicting the prognosis in early stages of lung adenocarcinoma. (PMID:17350713)
• These results suggest that chronic obstructive pulmonary disease patients have different patterns of CD63 expression and polymorphonuclear neutrophils mediator release than healthy individuals. (PMID:17390088)
• Data show that HIV-1 envelope glycoprotein (Env) and core protein (Gag) colocalize strongly with CD63 and CD81 and less strongly with CD9, and suggest that HIV-1 promotes virus assembly and cell-cell transfer by targeting these plasma membrane proteins. (PMID:17522207)
• There is low expression of the proteins and mRNA of ME491/CD63 and integrin alpha5 in ovarian cancer. The lower the pathological differentiation is, the more significant the loss of expression is and the more likely metastasis is. (PMID:17624082)
• PrP(c) at the cell surface of cultured human erythroblasts is rapidly internalized through the endosomal pathway, where it colocalizes with the tetraspanin CD63. (PMID:17827389)
• Data show that an N-terminal deletion mutant of CD63 blocks entry of CXCR4-using, T-cell tropic human immunodeficiency virus type 1 (X4 HIV-1) by suppressing CXCR4 surface expression. (PMID:18182005)
• CD63 plays a role in the regulation of ROMK channels through its association with RPTPalpha, which in turn interacts with and activates Src family PTK, thus reducing ROMK activity. (PMID:18211905)
• Together, our results indicate that at least in tissue culture, CD63 expression is not required for either the production or the infectivity of HIV-1. (PMID:18321974)
• These studies confirm CD63 as a constituent in multivesicular body-to-chlamydial inclusion transport but it is not required for this association. (PMID:18426873)
• Induction of hypercortisolism in healthy volunteers was associated with a trend toward higher expression of glycoprotein 53 on the platelet surface. (PMID:18600034)
• CD63 is involved in granule targeting of neutrophil elastase (PMID:18669870)
• Antigen-induced p38 MAPK phosphorylation in human basophils essentially contributes to CD63 upregulation (PMID:18727065)
• the activation-induced degranulation of Fas ligand has distinct requirements and involves different mechanisms than those of the granule markers CD63 and CD107a/Lamp-1 (PMID:19079288)
• Exotest for CD63+ plasma exosomes had limited sensitivity but the Exotest for detection of caveolin-1+ plasma exosomes showed a higher sensitivity. Caveolin-1+ plasma exosomes were significantly increased with respect to CD63+ exosomes in patients group (PMID:19381331)
• CD9, CD81 and CD63 are negative regulators of HIV-1-induced cell-cell fusion. (PMID:19458002)
• Serum sCD163 is a homogenous protein covering more than 94% of the CD163 ectodomain including the haptoglobin-hemoglobin -binding region. (PMID:19581020)
• Surface expression of the novel CD63 variant is a distinguishing feature of mast cells, which are are stable, multiple-use cells capable of surviving and delivering several consecutive hits (PMID:20337613)
• CD63 expression results from only the anaphylactic degranulation form of histamine release. (PMID:20633031)
• this work provides the first evidence of a TIMP-4/CD63 association in astrocytoma tumor cells (PMID:20693981)
• ameloblastin is expressed in osteoblasts and functions as a promoting factor for osteogenic differentiation via a novel pathway through the interaction between CD63 and integrin beta1 (PMID:21149578)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cd63	ENSDARG00000025147
mus_musculus	Cd63	ENSMUSG00000025351
rattus_norvegicus	Cd63	ENSRNOG00000007650
drosophila_melanogaster	Tsp47F	FBGN0033629
caenorhabditis_elegans	tsp-7	WBGENE00006633

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

CD63 antigen — P08962 (reviewed: P08962)

Alternative names: Granulophysin, Lysosomal-associated membrane protein 3, Lysosome integral membrane protein 1, Melanoma-associated antigen ME491, OMA81H, Ocular melanoma-associated antigen, Tetraspanin-30

All UniProt accessions (6): P08962, F8VNT9, F8VV56, F8VWK8, F8VX62, F8W022

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli.

Subunit / interactions. Interacts with TIMP1 and ITGB1 and recruits TIMP1 to ITGB1. Interacts with CD9. Identified in a complex with CD9 and ITGB3. Interacts with PMEL. Interacts with KDR/VEGFR2; identified in a complex with ITGB1 and KDR/VEGFR2 and is required to recruit KDR to ITGB1 complexes. Interacts with SYT7.

Subcellular location. Cell membrane. Lysosome membrane. Late endosome membrane. Endosome. Multivesicular body. Melanosome. Secreted. Extracellular exosome. Cell surface.

Tissue specificity. Detected in platelets (at protein level). Dysplastic nevi, radial growth phase primary melanomas, hematopoietic cells, tissue macrophages.

Post-translational modifications. Palmitoylated at a low, basal level in unstimulated platelets. The level of palmitoylation increases when platelets are activated by thrombin (in vitro).

Miscellaneous. Lack of expression of CD63 in platelets has been observed in a patient with Hermansky-Pudlak syndrome (HPS). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. This antigen is associated with early stages of melanoma tumor progression.

Similarity. Belongs to the tetraspanin (TM4SF) family.

Isoforms (3)

UniProt ID	Names	Canonical?
P08962-1	1	yes
P08962-2	2
P08962-3	3

RefSeq proteins (16): NP_001244318, NP_001244319, NP_001244320, NP_001244321, NP_001244329, NP_001244330, NP_001254627, NP_001400210, NP_001400211, NP_001400212, NP_001400213, NP_001400214, NP_001400215, NP_001400216, NP_001400217, NP_001771* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000301	Tetraspanin_animals	Family
IPR008952	Tetraspanin_EC2_sf	Homologous_superfamily
IPR018499	Tetraspanin/Peripherin	Family
IPR018503	Tetraspanin_CS	Conserved_site
IPR042028	CD63_LEL	Domain

Pfam: PF00335

UniProt features (18 total): topological domain 5, transmembrane region 4, glycosylation site 3, splice variant 2, initiator methionine 1, chain 1, short sequence motif 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9HUR	X-RAY DIFFRACTION	1.65
9HQ5	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P08962-F1	90.82	0.80

Antibody-complex structures (SAbDab): 2 — 9HQ5, 9HUR

Functional residue map

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

Glycosylation sites (3): 130, 150, 172

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-6798695	Neutrophil degranulation
R-HSA-109582	Hemostasis
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 313 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, MODULE_151, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, MODULE_64, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOCC_CELL_SURFACE, MODULE_128

GO Biological Process (16): positive regulation of receptor internalization (GO:0002092), cell-matrix adhesion (GO:0007160), negative regulation of epithelial cell migration (GO:0010633), protein transport (GO:0015031), cell migration (GO:0016477), epithelial cell differentiation (GO:0030855), endosome to melanosome transport (GO:0035646), positive regulation of cell adhesion (GO:0045785), pigment granule maturation (GO:0048757), regulation of vascular endothelial growth factor signaling pathway (GO:1900746), regulation of potassium ion transmembrane transport (GO:1901379), positive regulation of integrin-mediated signaling pathway (GO:2001046), cell differentiation (GO:0030154), pigmentation (GO:0043473), positive regulation of endocytosis (GO:0045807), pigment cell differentiation (GO:0050931)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (22): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), cell surface (GO:0009986), endosome membrane (GO:0010008), platelet dense granule membrane (GO:0031088), late endosome membrane (GO:0031902), endosome lumen (GO:0031904), multivesicular body membrane (GO:0032585), protein-containing complex (GO:0032991), azurophil granule membrane (GO:0035577), melanosome (GO:0042470), extracellular exosome (GO:0070062), multivesicular body, internal vesicle (GO:0097487), extracellular region (GO:0005576), lysosome (GO:0005764), endosome (GO:0005768), late endosome (GO:0005770), multivesicular body (GO:0005771), membrane (GO:0016020), vesicle (GO:0031982)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Innate Immune System	1
Immune System	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endosome	3
cell differentiation	2
binding	2
secretory granule membrane	2
late endosome	2
multivesicular body	2
regulation of receptor internalization	1
receptor internalization	1
positive regulation of receptor-mediated endocytosis	1
cell-substrate adhesion	1
epithelial cell migration	1
regulation of epithelial cell migration	1
negative regulation of cell migration	1
negative regulation of multicellular organismal process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cell motility	1
epithelium development	1
endosome to pigment granule transport	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
developmental maturation	1
cellular pigment accumulation	1
pigment cell differentiation	1
regulation of signal transduction	1
vascular endothelial growth factor signaling pathway	1
regulation of cellular response to vascular endothelial growth factor stimulus	1
regulation of potassium ion transport	1
potassium ion transmembrane transport	1
regulation of monoatomic cation transmembrane transport	1
integrin-mediated signaling pathway	1
positive regulation of signal transduction	1
regulation of integrin-mediated signaling pathway	1
cellular developmental process	1
biological_process	1
endocytosis	1
regulation of endocytosis	1

Protein interactions and networks

STRING

3276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD63	TSG101	Q99816	998
CD63	SDCBP	O00560	995
CD63	CD81	P18582	992
CD63	SDCBP2	Q9H190	992
CD63	ITGB1	P05556	992
CD63	TIMP1	P01033	990
CD63	CD9	P21926	988
CD63	LAMP2	P13473	986
CD63	LAMP1	P11279	984
CD63	CD82	P27701	982
CD63	ANXA2	P07355	982
CD63	HSPA4	P34932	981
CD63	FLOT1	O75955	945
CD63	CD151	P48509	935
CD63	EGFR	P00533	867

IntAct

106 interactions, top by confidence:

A	B	Type	Score
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
TIMP1	CD63	psi-mi:“MI:0915”(physical association)	0.690
CD63	TIMP1	psi-mi:“MI:0915”(physical association)	0.690
TIMP1	CD63	psi-mi:“MI:0403”(colocalization)	0.690
TIMP1	CD63	psi-mi:“MI:0914”(association)	0.690
TIMP1	CD63	psi-mi:“MI:0407”(direct interaction)	0.690
RETREG3	PLSCR1	psi-mi:“MI:0914”(association)	0.640
CD63	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
TSPAN2	TSPAN3	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
CLGN	NPC1	psi-mi:“MI:0914”(association)	0.530
CDS1	TSPAN6	psi-mi:“MI:0914”(association)	0.530
MFSD4A	HIP1R	psi-mi:“MI:0914”(association)	0.530
SLC5A9	CD63	psi-mi:“MI:0914”(association)	0.530
CD63	LGALS8	psi-mi:“MI:0914”(association)	0.530
CD63	env	psi-mi:“MI:0915”(physical association)	0.500
env	CD63	psi-mi:“MI:2364”(proximity)	0.500
CD63	env	psi-mi:“MI:2364”(proximity)	0.500
WLS	CD63	psi-mi:“MI:0915”(physical association)	0.490
ITGB1	CD63	psi-mi:“MI:0915”(physical association)	0.460
CD63	ITGB1	psi-mi:“MI:0403”(colocalization)	0.460
CD63	LMP1	psi-mi:“MI:0403”(colocalization)	0.460
LMP1	CD63	psi-mi:“MI:0403”(colocalization)	0.460

BioGRID (139): SDC1 (Reconstituted Complex), SDCBP (Reconstituted Complex), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (Affinity Capture-MS), CD63 (PCA), CD63 (Affinity Capture-MS)

ESM2 similar proteins: O43657, O46101, O60635, O70352, O70401, O75508, P08962, P0C672, P19331, P19397, P27591, P27701, P28648, P34285, P40237, P41731, P41732, P91799, Q11098, Q22495, Q24188, Q26499, Q28709, Q2KIS9, Q32KU6, Q3MHK4, Q3T0S3, Q4R3L1, Q4R7W6, Q55CV4, Q55CV5, Q55CV7, Q55CW7, Q58DM3, Q5RAS5, Q5RC27, Q5REK8, Q5WRN1, Q60771, Q61451

Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, A1L157, B0BM39, B3VSC2, B5X3I6, H2L006, O14817, O35566, O70352, O75954, O97703, P08962, P19075, P19397, P24485, P27701, P28648, P30932, P35762, P40237, P41731, P48509, P60033, P60034, P61170, P61171, Q06AA5, Q0VC33, Q28709, Q3ZBH3, Q3ZCD0, Q568Y5, Q58CY8, Q58DM3, Q5R9S6, Q5RAP3, Q61451, Q62745, Q6AYR9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFE3	“up-regulates quantity by expression”	CD63	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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
Neutrophil degranulation	11	4.9×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	26
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1452620	NM_002905.5(RDH5):c.632_633del (p.Pro211fs)	Pathogenic
8006	NM_002905.5(RDH5):c.880G>C (p.Ala294Pro)	Pathogenic
812394	NM_002905.5(RDH5):c.718dup (p.Ala240fs)	Pathogenic
866580	NM_002905.5(RDH5):c.625C>T (p.Arg209Ter)	Pathogenic
3370439	NM_002905.5(RDH5):c.713G>C (p.Gly238Ala)	Likely pathogenic

SpliceAI

981 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55725639:A:C	acceptor_gain	1.0000
12:55725807:TCTTA:T	donor_loss	1.0000
12:55725808:CTTA:C	donor_loss	1.0000
12:55725809:TTACC:T	donor_loss	1.0000
12:55725810:TACC:T	donor_loss	1.0000
12:55725811:A:AC	donor_gain	1.0000
12:55725811:ACCTC:A	donor_loss	1.0000
12:55725812:C:CC	donor_gain	1.0000
12:55725812:CCT:C	donor_gain	1.0000
12:55725892:CAGCC:C	acceptor_gain	1.0000
12:55725893:AGCC:A	acceptor_gain	1.0000
12:55725894:GCC:G	acceptor_gain	1.0000
12:55725895:CC:C	acceptor_gain	1.0000
12:55725895:CCC:C	acceptor_gain	1.0000
12:55725896:CC:C	acceptor_gain	1.0000
12:55725897:C:CC	acceptor_gain	1.0000
12:55725897:C:CG	acceptor_loss	1.0000
12:55725897:C:T	acceptor_gain	1.0000
12:55725898:T:A	acceptor_loss	1.0000
12:55725903:G:C	acceptor_gain	1.0000
12:55725903:G:GC	acceptor_gain	1.0000
12:55725907:C:CT	acceptor_gain	1.0000
12:55725908:A:T	acceptor_gain	1.0000
12:55725911:C:CT	acceptor_gain	1.0000
12:55725913:C:CT	acceptor_gain	1.0000
12:55725914:A:T	acceptor_gain	1.0000
12:55726116:CCTA:C	donor_loss	1.0000
12:55726117:CTAC:C	donor_loss	1.0000
12:55726118:TACCT:T	donor_loss	1.0000
12:55726119:ACC:A	donor_loss	1.0000

AlphaMissense

1565 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55726226:C:A	W154C	0.999
12:55726226:C:G	W154C	0.999
12:55726179:C:G	C170S	0.993
12:55726180:A:T	C170S	0.993
12:55726228:A:G	W154R	0.993
12:55726228:A:T	W154R	0.993
12:55726182:C:G	C169S	0.991
12:55726183:A:T	C169S	0.991
12:55726251:C:G	C146S	0.990
12:55726252:A:T	C146S	0.990
12:55726248:C:T	G147E	0.989
12:55726249:C:A	G147W	0.989
12:55726254:C:G	C145S	0.987
12:55726255:A:T	C145S	0.987
12:55726181:G:C	C169W	0.986
12:55726182:C:T	C169Y	0.986
12:55726255:A:G	C145R	0.986
12:55726178:G:C	C170W	0.984
12:55726183:A:G	C169R	0.984
12:55726251:C:T	C146Y	0.984
12:55725830:C:G	G212R	0.983
12:55725830:C:T	G212R	0.983
12:55726158:C:G	C177S	0.983
12:55726159:A:T	C177S	0.983
12:55726227:C:G	W154S	0.983
12:55726248:C:A	G147V	0.983
12:55725892:C:G	C191S	0.982
12:55725893:A:T	C191S	0.982
12:55726250:A:C	C146W	0.980
12:55726253:G:C	C145W	0.980

dbSNP variants (sampled 300 via entrez): RS1000274649 (12:55727489 G>A,T), RS1000613765 (12:55730534 G>A,C), RS1000876538 (12:55729350 G>T), RS1000943290 (12:55730230 A>G), RS1001266481 (12:55729575 C>G,T), RS1001488475 (12:55726814 A>C,G), RS1001913268 (12:55724899 T>C), RS1001995245 (12:55725166 G>A,T), RS1002391724 (12:55728870 G>A,T), RS1002554272 (12:55731449 C>A,T), RS1002926676 (12:55726318 T>A,C), RS1003055261 (12:55725625 A>C), RS1003558165 (12:55725406 C>T), RS1004356209 (12:55729769 G>C,T), RS1004374956 (12:55728361 G>A)

Disease associations

OMIM: gene MIM:155740 | disease phenotypes: MIM:136880

GenCC curated gene-disease

Mondo (3): inherited retinal dystrophy (MONDO:0019118), fundus albipunctatus (MONDO:0007639), retinitis punctata albescens (MONDO:0018877)

Orphanet (3): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Fundus albipunctatus (Orphanet:227796), Retinitis punctata albescens (Orphanet:52427)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000556	Retinal dystrophy

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003219_5	Advanced age-related macular degeneration	4.000000e-09
GCST008310_10	Cardiac Troponin-T levels	3.000000e-07
GCST010002_217	Refractive error	6.000000e-174

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:1001492	atrophic macular degeneration
EFO:0005043	cardiac troponin T measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
C562733	Fundus Albipunctatus (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3713303 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 405 (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
CHEMBL3986824	LANRAPLENIB	2	319
CHEMBL5083772	BIIB-091	2	86

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

Binding affinities (BindingDB)

11 measured of 11 human assays (11 total across all organisms); most potent 11 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
6-(6-amino-5-methylpyrazin-2-yl)-N-(4-(4-(oxetan-3-yl)piperazin-1-yl)phenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	6.2 nM	US-9504684: Syk inhibitors
2-(5-((6-(6-amino-5-methylpyrazin-2-yl)imidazo[1,2-a]pyrazin-8-yl)amino)-2-(4-(oxetan-3-yl)piperazin-1-yl)phenoxy)ethanol	IC50	8.7 nM	US-9504684: Syk inhibitors
2-(5-((6-(6-aminopyrazin-2-yl)imidazo[1,2-a]pyrazin-8-yl)amino)-2-(4-(oxetan-3-yl)piperazin-1-yl)phenoxy)ethanol	IC50	12.2 nM	US-9504684: Syk inhibitors
(R)-(4-(4-((6-(6-aminopyrazin-2-yl)imidazo[1,2-a]pyrazin-8-yl)amino)phenyl)morpholin-2-yl)methanol	IC50	13.3 nM	US-9504684: Syk inhibitors
6-(6-aminopyrazin-2-yl)-N-(4-(4-(oxetan-3-yl)piperazin-1-yl)phenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	13.5 nM	US-9504684: Syk inhibitors
2-((4-(4-((6-(6-aminopyrazin-2-yl)imidazo[1,2-a]pyrazin-8-yl)amino)phenyl)piperazin-1-yl)methyl)propane-1,3-diol	IC50	14.5 nM	US-9504684: Syk inhibitors
6-(5-amino-6-methyl-3-pyridinyl)-N-(4-morpholin-4-ylphenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	16 nM	US-9504684: Syk inhibitors
6-(5-amino-3-pyridinyl)-N-(4-morpholin-4-ylphenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	31 nM	US-9504684: Syk inhibitors
6-(6-aminopyrazin-2-yl)-5-methyl-N-(4-(4-(oxetan-3-yl)piperazin-1-yl)phenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	44 nM	US-9504684: Syk inhibitors
6-(6-amino-3-pyridinyl)-N-(3,4-dimethoxyphenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	53 nM	US-9504684: Syk inhibitors
6-(3-aminophenyl)-N-(3,4-dimethoxyphenyl)imidazo[1,2-a]pyrazin-8-amine	IC50	188 nM	US-9504684: Syk inhibitors

ChEMBL bioactivities

12 potent at pChembl≥5 of 14 total, top 12 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.48	IC50	33	nM	CHEMBL3953841
7.29	IC50	51	nM	CHEMBL3917084
7.10	IC50	80	nM	LANRAPLENIB
7.09	IC50	82	nM	BIIB-091
7.00	IC50	101	nM	CHEMBL3978560
6.92	IC50	120	nM	CHEMBL3902654
6.89	IC50	128	nM	CHEMBL3973635
6.80	IC50	157	nM	CHEMBL3929647
6.78	IC50	167	nM	CHEMBL3911668
6.60	IC50	250	nM	CHEMBL3952825
6.13	IC50	734	nM	CHEMBL3962740
6.09	IC50	809	nM	CHEMBL3981576

PubChem BioAssay actives

1 with measured affinity, of 3 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
1-tert-butyl-N-[(5R)-8-[2-[(1-methylpyrazol-4-yl)amino]pyrimidin-4-yl]-2-(oxetan-3-yl)-1,3,4,5-tetrahydro-2-benzazepin-5-yl]triazole-4-carboxamide	1820597: Inhibition of CD63 (unknown origin) assessed as FcepsilonR induced basophil activation	ic50	0.0820	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	decreases reaction, increases expression	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	3
sodium arsenite	affects expression, increases expression	2
N-Formylmethionine Leucyl-Phenylalanine	increases expression, increases reaction, affects reaction, decreases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Quercetin	affects reaction, increases expression	2
Smoke	decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression, affects expression	2
Valproic Acid	affects cotreatment, increases expression	2
Cyclosporine	increases expression	2
bisphenol F	increases expression	1
fenebrutinib	decreases expression	1
TAK-243	increases sumoylation	1
evobrutinib	decreases expression	1
remibrutinib	decreases expression	1
orelabrutinib	decreases expression	1
rilzabrutinib	decreases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	increases expression	1
beta-lapachone	increases expression	1
cupric chloride	decreases expression	1
ceric oxide	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
beta-methylcholine	affects expression	1
yessotoxin	increases expression	1
SB 203580	decreases reaction, increases expression, increases reaction	1
chloropicrin	decreases expression	1
K 7174	increases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3887150	Binding	High Throughput Syk Biochemical Assay: Syk activity was measured using KinEASE (Cisbio), a time-resolved fluorescence resonance energy transfer (TR-FRET) immunoassay. In this assay, Syk-catalyzes the phosphorylation of a XL665-labeled pepti	Substituted imidazo[1,2-a]pyrazines as Syk inhibitors

Cellosaurus cell lines

10 cell lines: 6 transformed cell line, 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A8RY	CAP-CD63-tGFP	Transformed cell line
CVCL_A8SA	CAP-CD63-tGFP-Null	Transformed cell line
CVCL_A8SC	CAP-CD63-tGFP-miRNA-493	Transformed cell line
CVCL_A8SD	CAP-CD63-tGFP-miRNA-744	Transformed cell line
CVCL_B0ZK	Abcam Hep-G2 CD63 KO	Cancer cell line	Male
CVCL_D7M7	Ubigene A-549 CD63 KO	Cancer cell line	Male
CVCL_D9BI	Ubigene HEK293 CD63 KO	Transformed cell line	Female
CVCL_D9ZQ	Ubigene HeLa CD63 KO	Cancer cell line	Female
CVCL_SH90	HAP1 CD63 (-)	Cancer cell line	Male
CVCL_UF04	HEK293 CD63 CRISPR	Transformed cell line	Female

Clinical trials (associated diseases)

40 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
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry