GPHN

Summary

GPHN (gephyrin, HGNC:15465) is a protein-coding gene on chromosome 14q23.3, encoding Gephyrin (Q9NQX3). Microtubule-associated protein involved in membrane protein-cytoskeleton interactions.

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.

Source: NCBI Gene 10243 — RefSeq curated summary.

At a glance

• Gene–disease (curated): sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 2,083 total — 94 pathogenic, 56 likely-pathogenic
• Phenotypes (HPO): 52
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_020806

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15465
Approved symbol	GPHN
Name	gephyrin
Location	14q23.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1385, GEPH, GPH
Ensembl gene	ENSG00000171723
Ensembl biotype	protein_coding
OMIM	603930
Entrez	10243

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 27 protein_coding, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000315266, ENST00000459628, ENST00000478722, ENST00000543237, ENST00000544752, ENST00000553936, ENST00000555456, ENST00000555503, ENST00000555527, ENST00000555668, ENST00000556020, ENST00000556240, ENST00000556501, ENST00000556633, ENST00000557654, ENST00000557678, ENST00000903921, ENST00000903922, ENST00000903923, ENST00000903924, ENST00000903925, ENST00000903926, ENST00000903927, ENST00000903928, ENST00000903929, ENST00000903930, ENST00000923413, ENST00000923414, ENST00000960380, ENST00000960381, ENST00000960382, ENST00000960383, ENST00000960384, ENST00000960385, ENST00000960386, ENST00000960387

RefSeq mRNA: 8 — MANE Select: NM_020806 NM_001024218, NM_001377514, NM_001377515, NM_001377516, NM_001377517, NM_001377518, NM_001377519, NM_020806

CCDS: CCDS32103, CCDS9777

Canonical transcript exons

ENST00000478722 — 23 exons

Exon	Start	End
ENSE00001955675	67180804	67181803
ENSE00003462253	67110140	67110259
ENSE00003476022	66824474	66824566
ENSE00003489542	67058649	67058786
ENSE00003492602	66922666	66922938
ENSE00003500755	67143362	67143449
ENSE00003512258	66776464	66776521
ENSE00003518027	67111861	67111919
ENSE00003529512	67179578	67179674
ENSE00003556897	66924194	66924292
ENSE00003575659	67113018	67113171
ENSE00003585682	67100856	67100911
ENSE00003586912	67159415	67159488
ENSE00003594779	67023633	67023675
ENSE00003603291	66681107	66681185
ENSE00003615648	66965191	66965325
ENSE00003639837	67168933	67169036
ENSE00003657091	66916003	66916069
ENSE00003666440	67165162	67165226
ENSE00003673402	66879939	66880033
ENSE00003677762	67122256	67122377
ENSE00003690665	67088983	67089075
ENSE00003900900	66508147	66508591

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 95.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.8614 / max 602.8518, expressed in 1804 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140191	28.4245	1801
140194	3.7870	799
140190	2.1991	1036
140193	0.5913	217
140192	0.3678	150
207262	0.2507	105
140196	0.1926	53
140195	0.0483	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	95.81	gold quality
cerebellar hemisphere	UBERON:0002245	95.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.60	gold quality
cortical plate	UBERON:0005343	95.46	gold quality
cerebellum	UBERON:0002037	94.76	gold quality
right lobe of liver	UBERON:0001114	93.19	gold quality
prefrontal cortex	UBERON:0000451	93.15	gold quality
right frontal lobe	UBERON:0002810	92.47	gold quality
anterior cingulate cortex	UBERON:0009835	92.46	gold quality
cingulate cortex	UBERON:0003027	92.35	gold quality
primary visual cortex	UBERON:0002436	92.29	gold quality
caudate nucleus	UBERON:0001873	92.25	gold quality
nucleus accumbens	UBERON:0001882	92.22	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.81	gold quality
neocortex	UBERON:0001950	91.60	gold quality
frontal cortex	UBERON:0001870	91.36	gold quality
frontal lobe	UBERON:0016525	91.36	gold quality
putamen	UBERON:0001874	91.13	gold quality
amygdala	UBERON:0001876	90.83	gold quality
cerebral cortex	UBERON:0000956	90.72	gold quality
telencephalon	UBERON:0001893	90.69	gold quality
ganglionic eminence	UBERON:0004023	90.66	gold quality
liver	UBERON:0002107	90.34	gold quality
colonic epithelium	UBERON:0000397	90.27	gold quality
forebrain	UBERON:0001890	89.74	gold quality
brain	UBERON:0000955	89.64	gold quality
lower esophagus mucosa	UBERON:0035834	89.35	gold quality
Ammon’s horn	UBERON:0001954	89.29	gold quality
occipital lobe	UBERON:0002021	89.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	18.67
E-ANND-3	yes	12.23
E-MTAB-6678	yes	8.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting GPHN, 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-8485	100.00	77.57	4731
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-10394-5P	99.65	66.83	1852

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 30)

• crystal structure of N terminal G domain (PMID:11554796)
• Gephyrin may have a central organizer role in assembling and stabilizing inhibitory postsynaptic membranes in human brain and is similar in function to those observed in the rodent brain. (PMID:12535948)
• the N10Y mutation and alternative splicing of GPHN transcripts do not affect interactions with glycine receptor but may affect other interactions with the cytoskeleton or gephyrin accessory proteins (PMID:12684523)
• Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives (PMID:12754701)
• Colocalization of immunoreactivities for gephyrin and glycine receptor subunits was detected in the dorsal and ventral horns of the spinal cord, the hypoglossal nucleus and the medial vestibular nucleus of the medulla. (PMID:14622920)
• GPHN as an MLL-GPHN chimera is able to transform hematopoietic progenitors; a tubulin-binding domain of GPHN is necessary and sufficient for this activity and also confers oligomerization capacity on MLL protein, which may contribute to leukemogenesis (PMID:14751928)
• Within clusters, we identified two subpopulations of GlyR with distinct degrees of stabilization between receptors and scaffolding proteins. (PMID:17293395)
• Gephyrin plays a role in synaptic function by interacting with GRIP1 splice forms at GABAergic synapses in transfected cultured hippocampal neurons. (PMID:18315564)
• Data are consistent with the postsynaptic gephyrin scaffold acting as a platform for protein phosphatase 1 (PP1), which regulates gephyrin cluster size by dephosphorylation of gephyrin- or cytoskeleton-associated proteins. (PMID:20206270)
• Study propose that the collybistin-gephyrin complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit. (PMID:20622020)
• we did not obtain evidence for gephyrin gene mutations in patients with temporal lobe epilepsy (PMID:21071388)
• Data demonstrate the direct interaction between DYNLL1 and peptides derived from ASFV p54 and gephyrin interacting sequences. (PMID:21094642)
• Gephyrin expression is significantly lower in the temporal neocortex of temporal lobe epilepsy (TLE) patients and may be involved in the development of TLE. (PMID:21404332)
• The authors have identified a protein kinase C (PKC) phosphorylation site within the cytoplasmic domain of the beta-subunit of the GlyR (residue S403) that causes a reduction of the binding affinity between the receptor and gephyrin. (PMID:21829170)
• The gephyrin’s presence in a cytosolic 600 kDa protein complex suggests that its metabolic and/or other non-neuronal functions are exerted in the cytoplasm and are not confined to a particular subcellular compartment. (PMID:22270318)
• Phosphorylation of gephyrin in hippocampal neurons by cyclin-dependent kinase CDK5 at Ser-270 is dependent on collybistin. (PMID:22778260)
• A reduction in the number of gephyrin clusters in primary neurons reduces GABA signaling. (PMID:23077067)
• Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. (PMID:23393157)
• Extracellular signal-regulated kinase and glycogen synthase kinase 3beta regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism (PMID:23408424)
• abnormal accumulations of gephyrin are highly correlated with the neuropathologic diagnosis of Alzheimer disease in 17 AD versus 14 control cases. Furthermore, gephyrin accumulations were specific for AD. (PMID:24128675)
• The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors (PMID:24297911)
• Structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission. (PMID:24561070)
• The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin. (PMID:25531214)
• Results show that PKC-dependent phosphorylation of GAP43 plays a critical role in regulating postsynaptic gephyrin aggregation in developing GABAergic synapses. (PMID:25755278)
• A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution. (PMID:25813846)
• A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified. (PMID:26613940)
• these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development. (PMID:27002143)
• This study shown that the SNPs located in the rs723432 (Pallele=0.007; uncorrected) in the GPHN gene showed associated with Japanese individuals affected with schizophrenia. (PMID:28073605)
• Using quantitative photoactivated localisation microscopy the authors found that alpha-1 and alpha-3 containing glycine receptors display the same alpha3:beta2 stoichiometry and gephyrin binding. (PMID:28883437)
• Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity. (PMID:35717442)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gphna	ENSDARG00000089076
danio_rerio	gphnb	ENSDARG00000100851
mus_musculus	Gphn	ENSMUSG00000047454
rattus_norvegicus	Gphn	ENSRNOG00000064630
drosophila_melanogaster	cin	FBGN0000316
caenorhabditis_elegans		WBGENE00003385

Protein

Protein identifiers

Gephyrin — Q9NQX3 (reviewed: Q9NQX3)

All UniProt accessions (9): Q9NQX3, F5H039, G3V355, G3V4D2, G3V4R0, G3V582, H0YIY4, H0YJ30, H0YJR5

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors. Also has a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.

Subunit / interactions. Homotrimer, homodimer and homooligomer. Interacts with GABARAP. Interacts with SRGAP2 (via SH3 domain). Interacts with GABRA3. Interacts with GLRB. GABRA3 and GLRB occupy overlapping binding sites. Interacts with ARHGAP32; IQSEC3, INSYN1 and INSYN2A.

Subcellular location. Postsynaptic cell membrane. Cell membrane. Cytoplasm. Cytosol. Cytoskeleton. Cell projection. Dendrite. Postsynaptic density.

Post-translational modifications. Palmitoylated. Palmitoylation is stimulated by GABA type A receptors activity. Palmitoylation by ZDHHC12 regulates clustering at synapses.

Disease relevance. Molybdenum cofactor deficiency C (MOCODC) [MIM:615501] A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by copper and tungsten.

Pathway. Cofactor biosynthesis; molybdopterin biosynthesis.

Similarity. In the N-terminal section; belongs to the MoaB/Mog family. In the C-terminal section; belongs to the MoeA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NQX3-1	1	yes
Q9NQX3-2	2

RefSeq proteins (8): NP_001019389, NP_001364443, NP_001364444, NP_001364445, NP_001364446, NP_001364447, NP_001364448, NP_065857* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001453	MoaB/Mog_dom	Domain
IPR005110	MoeA_linker/N	Domain
IPR005111	MoeA_C_domain_IV	Domain
IPR008284	MoCF_biosynth_CS	Conserved_site
IPR036135	MoeA_linker/N_sf	Homologous_superfamily
IPR036425	MoaB/Mog-like_dom_sf	Homologous_superfamily
IPR036688	MoeA_C_domain_IV_sf	Homologous_superfamily
IPR038987	MoeA-like	Family

Pfam: PF00994, PF03453, PF03454

Catalyzed reactions (Rhea), 2 shown:

• molybdopterin + ATP + H(+) = adenylyl-molybdopterin + diphosphate (RHEA:31331)
• adenylyl-molybdopterin + molybdate = Mo-molybdopterin + AMP + H(+) (RHEA:35047)

UniProt features (59 total): binding site 14, modified residue 10, helix 10, strand 7, region of interest 5, sequence variant 3, lipid moiety-binding region 2, mutagenesis site 2, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1JLJ	X-RAY DIFFRACTION	1.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQX3-F1	84.15	0.72

Functional residue map

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

Ligand- & substrate-binding residues (14): 524; 525; 525; 526; 526; 573; 573; 574; 575; 580; 626; 626 …

Post-translational modifications (12): 188, 194, 198, 200, 262, 265, 266, 268, 270, 305, 212, 284

Mutagenesis-validated functional residues (2):

Position	Phenotype
212	decreased palmitoylation. decreased clustering at synaptic membranes. decreased function in gamma-aminobutyric acid rece
284	decreased palmitoylation. decreased clustering at synaptic membranes. decreased function in gamma-aminobutyric acid rece

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-947581	Molybdenum cofactor biosynthesis

MSigDB gene sets: 355 (showing top): GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, GOBP_SYNAPSE_ASSEMBLY, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, ATGTTAA_MIR302C, GOBP_RESPONSE_TO_METAL_ION, NFKB_C, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_POSTSYNAPTIC_MEMBRANE_ORGANIZATION, TGIF_01, MORI_SMALL_PRE_BII_LYMPHOCYTE_DN, ACATATC_MIR190

GO Biological Process (14): Mo-molybdopterin cofactor biosynthetic process (GO:0006777), synapse assembly (GO:0007416), establishment of synaptic specificity at neuromuscular junction (GO:0007529), response to metal ion (GO:0010038), establishment of protein localization (GO:0045184), glycine receptor clustering (GO:0072579), gamma-aminobutyric acid receptor clustering (GO:0097112), neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0099645), phosphate-containing compound metabolic process (GO:0006796), molybdopterin cofactor biosynthetic process (GO:0032324), synapse organization (GO:0050808), synaptic transmission, GABAergic (GO:0051932), protein localization to membrane (GO:0072657), organophosphate biosynthetic process (GO:0090407)

GO Molecular Function (14): signaling receptor binding (GO:0005102), ATP binding (GO:0005524), nitrate reductase activity (GO:0008940), protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), molybdopterin cofactor binding (GO:0043546), metal ion binding (GO:0046872), molybdopterin adenylyltransferase activity (GO:0061598), molybdopterin molybdotransferase activity (GO:0061599), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740), molecular adaptor activity (GO:0060090)

GO Cellular Component (19): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), postsynaptic density (GO:0014069), dendrite (GO:0030425), dendritic spine (GO:0043197), postsynaptic membrane (GO:0045211), inhibitory synapse (GO:0060077), synaptic membrane (GO:0097060), glycinergic synapse (GO:0098690), GABA-ergic synapse (GO:0098982), postsynaptic specialization, intracellular component (GO:0099091), postsynaptic specialization (GO:0099572), membrane (GO:0016020), cell projection (GO:0042995), synapse (GO:0045202), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of water-soluble vitamins and cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
synapse	5
protein binding	3
binding	3
postsynapse	3
synapse organization	2
postsynaptic membrane organization	2
neurotransmitter-gated ion channel clustering	2
molecular_function	2
intracellular membraneless organelle	2
postsynaptic specialization	2
molybdenum incorporation into molybdenum-molybdopterin complex	1
Mo-molybdopterin cofactor metabolic process	1
molybdopterin cofactor biosynthetic process	1
GTP 3’,8’-cyclase activity	1
cyclic pyranopterin monophosphate synthase activity	1
nervous system development	1
cell junction assembly	1
neuromuscular junction development	1
response to chemical	1
establishment of localization	1
protein-containing complex localization	1
receptor localization to synapse	1
regulation of postsynaptic membrane neurotransmitter receptor levels	1
protein localization to postsynaptic specialization membrane	1
metabolic process	1
molybdopterin synthase activity	1
cysteine desulfurase activity	1
molybdopterin cofactor metabolic process	1
molybdopterin adenylyltransferase activity	1
molybdopterin-synthase sulfurtransferase activity	1
molybdopterin-synthase adenylyltransferase activity	1
organophosphate biosynthetic process	1
cell junction organization	1
chemical synaptic transmission	1
intracellular protein localization	1
localization within membrane	1
biosynthetic process	1
organophosphate metabolic process	1
adenyl ribonucleotide binding	1

Protein interactions and networks

STRING

2326 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPHN	ARHGEF9	O43307	997
GPHN	NLGN2	Q8NFZ4	968
GPHN	GARS1	P41250	963
GPHN	GLRB	P48167	959
GPHN	MOCS1	Q9NZB8	957
GPHN	MOCS2	O96007	949
GPHN	SLC32A1	Q9H598	940
GPHN	GABARAP	O95166	932
GPHN	GLRA1	P23415	900
GPHN	DLG4	P78352	885
GPHN	SUOX	P51687	878
GPHN	PFN1	P07737	861
GPHN	MTOR	P42345	861
GPHN	SLC6A5	Q9Y345	849
GPHN	AOX1	Q06278	837

IntAct

67 interactions, top by confidence:

A	B	Type	Score
PRPF4	PPIH	psi-mi:“MI:0914”(association)	0.910
GPHN	DYNLL1	psi-mi:“MI:0407”(direct interaction)	0.860
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
AKT1	RPS6KB1	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
DVL1	DVL2	psi-mi:“MI:0914”(association)	0.620
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	SEC16A	psi-mi:“MI:0914”(association)	0.530
ZAR1L	BCL2L11	psi-mi:“MI:0914”(association)	0.530
CIMAP1D	NMT2	psi-mi:“MI:0914”(association)	0.530
TSSK1B	HSPA8	psi-mi:“MI:0914”(association)	0.530
LAGE3	CTSA	psi-mi:“MI:0914”(association)	0.530
MAGEA4	MAGEA8	psi-mi:“MI:0914”(association)	0.530
DYNLL1	SHMT2	psi-mi:“MI:0914”(association)	0.510
DYNLL2	SHMT2	psi-mi:“MI:0914”(association)	0.510
SRGAP2	GPHN	psi-mi:“MI:0407”(direct interaction)	0.440
Dynll1		psi-mi:“MI:0915”(physical association)	0.400
GPHN	SPATS1	psi-mi:“MI:0915”(physical association)	0.370
GPHN	GPHN	psi-mi:“MI:0915”(physical association)	0.370
KHDRBS1	GPHN	psi-mi:“MI:0915”(physical association)	0.370
GPHN	ACADVL	psi-mi:“MI:0915”(physical association)	0.370
CDCA5	BDP1	psi-mi:“MI:0914”(association)	0.350
TCF4	OGT	psi-mi:“MI:0914”(association)	0.350

BioGRID (107): GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), ARHGEF9 (Two-hybrid), GPHN (Affinity Capture-Western), VASP (Affinity Capture-Western), ENAH (Affinity Capture-Western), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS), GPHN (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8F5J9, A0JN27, F1LTR1, F1NBL0, O15294, P35438, P35439, P56558, P61201, P61202, P61203, P61599, P61600, P63138, P79101, P81436, Q03555, Q05586, Q13888, Q15303, Q27HV0, Q2PFM2, Q2TBV5, Q4L208, Q58ED9, Q5R1P0, Q5SP67, Q5ZJ75, Q61527, Q62956, Q6IQT4, Q6IR75, Q6P1K8, Q6P632, Q7ZXR3, Q8BUV3, Q8C6G8, Q8CGY8, Q8R4D1, Q91854

Diamond homologs: B8I7D0, O31703, P12281, P39205, P45210, P65407, P99139, P9WJQ4, P9WJQ5, Q03555, Q39054, Q44243, Q56066, Q56207, Q58080, Q58296, Q5HDT4, Q5HLX6, Q6G749, Q6GEG1, Q8BUV3, Q8CNE1, Q8NVA1, Q9NQX3, Q9PW38, O34457, P0AEZ9, P0AF00, P0AF03, P0AF04, P0AF05, P44645, P56421, P59014, P65406, P99137, Q56208, Q57631, Q5HDT2, Q5HLX4

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
ERK1/2	down-regulates	GPHN	phosphorylation
GSK3B	down-regulates	GPHN	phosphorylation
GABARAP	“up-regulates activity”	GPHN	binding
GPHN	“up-regulates activity”	ARHGEF9	binding
GPHN	“up-regulates activity”	NLGN2	binding
GPHN	up-regulates	Synaptic_plasticity
GPHN	“up-regulates quantity by stabilization”	GABA-A	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

2083 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	94
Likely pathogenic	56
Uncertain significance	1086
Likely benign	625
Benign	77

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069066	NM_020806.5(GPHN):c.1156_1159dup (p.Val387fs)	Pathogenic
1071767	NM_152443.3(RDH12):c.393T>A (p.Cys131Ter)	Pathogenic
1074324	NM_016026.4(RDH11):c.230del (p.Lys77fs)	Pathogenic
1075236	NC_000014.8:g.(?67243172)(67291294_?)del	Pathogenic
1301382	NM_152443.3(RDH12):c.698T>A (p.Val233Asp)	Pathogenic
1432165	NM_016026.4(RDH11):c.237dup (p.Leu80fs)	Pathogenic
1451652	NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer)	Pathogenic
1452267	NM_020806.5(GPHN):c.1907dup (p.Gly637fs)	Pathogenic
1454036	NM_152443.3(RDH12):c.43del (p.Leu15fs)	Pathogenic
1454068	NM_020806.5(GPHN):c.1234C>T (p.Arg412Ter)	Pathogenic
1456691	NC_000014.8:g.(?67490330)(67555812_?)del	Pathogenic
1456692	NC_000014.8:g.(?67147805)(67291304_?)del	Pathogenic
1456696	NC_000014.8:g.(?67346637)(67432062_?)del	Pathogenic
1457557	NC_000014.8:g.(?67147805)(67243259_?)del	Pathogenic
1458284	NC_000014.8:g.(?67243162)(67490412_?)del	Pathogenic
1458569	NM_020806.5(GPHN):c.277C>T (p.Arg93Ter)	Pathogenic
1459461	NC_000014.8:g.(?67525346)(67567648_?)del	Pathogenic
1459465	NC_000014.8:g.(?67382700)(67432062_?)del	Pathogenic
161115	NM_016026.4(RDH11):c.199C>T (p.Arg67Ter)	Pathogenic
161116	NM_016026.4(RDH11):c.322C>T (p.Arg108Ter)	Pathogenic
1711873	GRCh37/hg19 14q23.3(chr14:66292119-67108035)x3	Pathogenic
1929453	NM_152443.3(RDH12):c.723del (p.Ser242fs)	Pathogenic
1970808	NM_152443.3(RDH12):c.546del (p.Ile183fs)	Pathogenic
2014914	NM_020806.5(GPHN):c.770_771del (p.His257fs)	Pathogenic
2021431	NM_020806.5(GPHN):c.802_803insG (p.Tyr268Ter)	Pathogenic
2028217	NM_020806.5(GPHN):c.630dup (p.Gln211fs)	Pathogenic
2033928	NM_020806.5(GPHN):c.747del (p.Ser250fs)	Pathogenic
2036462	NM_020806.5(GPHN):c.1560del (p.Thr520_Val521insTer)	Pathogenic
2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	Pathogenic
2048	NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)	Pathogenic

SpliceAI

7831 predictions. Top by Δscore:

Variant	Effect	Δscore
14:66513650:G:GT	donor_gain	1.0000
14:66681095:A:AG	acceptor_gain	1.0000
14:66681096:T:G	acceptor_gain	1.0000
14:66681101:A:AG	acceptor_gain	1.0000
14:66681102:T:G	acceptor_gain	1.0000
14:66681102:TTTAG:T	acceptor_loss	1.0000
14:66681104:TAGTG:T	acceptor_gain	1.0000
14:66681105:A:AG	acceptor_gain	1.0000
14:66681105:AGT:A	acceptor_gain	1.0000
14:66681105:AGTGA:A	acceptor_gain	1.0000
14:66681106:G:GC	acceptor_gain	1.0000
14:66681106:GT:G	acceptor_gain	1.0000
14:66681106:GTG:G	acceptor_gain	1.0000
14:66681106:GTGA:G	acceptor_gain	1.0000
14:66681106:GTGAG:G	acceptor_gain	1.0000
14:66681181:TCTTT:T	donor_gain	1.0000
14:66681183:TTT:T	donor_gain	1.0000
14:66681183:TTTG:T	donor_loss	1.0000
14:66681184:TT:T	donor_gain	1.0000
14:66681184:TTGT:T	donor_loss	1.0000
14:66681185:TGT:T	donor_loss	1.0000
14:66681186:G:GG	donor_gain	1.0000
14:66681186:G:T	donor_loss	1.0000
14:66681187:TG:T	donor_loss	1.0000
14:66681188:GAGTA:G	donor_loss	1.0000
14:66681189:A:AA	donor_loss	1.0000
14:66681190:G:C	donor_loss	1.0000
14:66681190:G:GG	donor_gain	1.0000
14:66824469:TTCA:T	acceptor_loss	1.0000
14:66824471:CAG:C	acceptor_loss	1.0000

AlphaMissense

5022 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:66508579:G:A	G18R	1.000
14:66508579:G:C	G18R	1.000
14:66508580:G:A	G18E	1.000
14:66508586:T:C	L20P	1.000
14:66681139:G:C	D33H	1.000
14:66681158:T:C	L39P	1.000
14:66824481:T:C	L70P	1.000
14:66824489:T:A	W73R	1.000
14:66824489:T:C	W73R	1.000
14:66824517:T:A	I82K	1.000
14:66824529:G:A	G86E	1.000
14:66824532:G:A	G87E	1.000
14:66824537:G:A	G89R	1.000
14:66824537:G:C	G89R	1.000
14:66824538:G:A	G89E	1.000
14:66824540:T:C	F90L	1.000
14:66824542:T:A	F90L	1.000
14:66824542:T:G	F90L	1.000
14:66880027:T:C	L128P	1.000
14:66880033:G:C	R130T	1.000
14:66880033:G:T	R130M	1.000
14:66916010:T:C	C133R	1.000
14:66916012:T:G	C133W	1.000
14:66916013:G:A	G134R	1.000
14:66916013:G:C	G134R	1.000
14:66916014:G:A	G134E	1.000
14:66916032:T:C	L140P	1.000
14:66916035:T:A	I141K	1.000
14:66916042:C:A	N143K	1.000
14:66916042:C:G	N143K	1.000

dbSNP variants (sampled 300 via entrez): RS1000001299 (14:67283740 G>A), RS1000004027 (14:67372494 A>G), RS1000006035 (14:67455502 T>C), RS1000009227 (14:66911925 C>T), RS1000009300 (14:66920292 C>T), RS1000009876 (14:67719329 T>C), RS1000013774 (14:66742821 G>A), RS1000016137 (14:67453565 C>T), RS1000018226 (14:67127724 A>T), RS1000022562 (14:67314113 T>C), RS1000026875 (14:66912493 G>A), RS1000031806 (14:67135092 G>A,C), RS1000031994 (14:66702961 G>A), RS1000039190 (14:66764488 A>G), RS1000040280 (14:67455241 G>A)

Disease associations

OMIM: gene MIM:603930 | disease phenotypes: MIM:615501, MIM:612712, MIM:204000, MIM:149400, MIM:616108, MIM:268000, MIM:618010, MIM:181500, MIM:120970, MIM:252150

GenCC curated gene-disease

Disease	Classification	Inheritance
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Strong	Autosomal recessive
complex neurodevelopmental disorder	Moderate	Autosomal dominant
hereditary hyperekplexia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Moderate	AR

Mondo (20): sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (MONDO:0014212), Leber congenital amaurosis 13 (MONDO:0012990), Leber congenital amaurosis (MONDO:0018998), hyperekplexia 1 (MONDO:0007868), retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (MONDO:0014495), atypical Rett syndrome (MONDO:0017746), retinitis pigmentosa (MONDO:0019200), inherited retinal dystrophy (MONDO:0019118), glycosylphosphatidylinositol biosynthesis defect 17 (MONDO:0060724), optic atrophy (MONDO:0003608), prostate cancer (MONDO:0008315), schizophrenia (MONDO:0005090), cone-rod dystrophy (MONDO:0015993), neurodevelopmental disorder (MONDO:0700092), sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (MONDO:0009643)

Orphanet (14): Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (Orphanet:308400), Encephalopathy due to sulfite oxidase deficiency (Orphanet:833), Leber congenital amaurosis (Orphanet:65), Hereditary hyperekplexia (Orphanet:3197), Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (Orphanet:436245), Atypical Rett syndrome (Orphanet:3095), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Familial prostate cancer (Orphanet:1331), Cone rod dystrophy (Orphanet:1872), Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386), Hyperekplexia (Orphanet:306773), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

52 total (30 of 52 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001276	Hypertonia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001321	Cerebellar hypoplasia
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0001373	Joint dislocation
HP:0001387	Joint stiffness
HP:0001537	Umbilical hernia
HP:0002020	Gastroesophageal reflux
HP:0002036	Hiatus hernia
HP:0002063	Rigidity
HP:0002069	Bilateral tonic-clonic seizure
HP:0002104	Apnea
HP:0002123	Generalized myoclonic seizure
HP:0002126	Polymicrogyria
HP:0002197	Generalized-onset seizure
HP:0002267	Exaggerated startle response
HP:0002359	Frequent falls
HP:0002360	Sleep disturbance
HP:0002375	Hypokinesia
HP:0002380	Fasciculations

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001802_2	Depression (quantitative trait)	3.000000e-06
GCST003055_4	Tandem gait	2.000000e-07
GCST008161_62	Waist circumference adjusted for body mass index	6.000000e-06
GCST009087_1	Pneumococcal meningitis	9.000000e-06
GCST90000025_538	Appendicular lean mass	2.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass

MeSH disease descriptors (13)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D003704	Dementia	C10.228.140.380; F03.615.400
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D000071017	Hyperekplexia	C10.228.590
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D065886	Neurodevelopmental Disorders	F03.625
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C567197	Leber Congenital Amaurosis 13 (supp.)
C565372	Molybdenum Cofactor Deficiency, Complementation Group A (supp.)
C565374	Molybdenum Cofactor Deficiency, Complementation Group C (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	5
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	4
Cisplatin	decreases expression, increases expression	3
Valproic Acid	affects expression, increases expression	3
Aflatoxin B1	affects expression, decreases methylation, increases methylation	3
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
chloroacetaldehyde	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
senecionine	decreases expression	1
senkirkine	decreases expression	1
sodium arsenate	decreases expression	1
heliotrine	decreases expression	1
arsenite	affects binding, decreases reaction, increases reaction	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
coumarin	affects phosphorylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
LDN 193189	affects cotreatment, increases expression	1
Bortezomib	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SQ39	HAP1 GPHN (-)	Cancer cell line	Male

Clinical trials (associated diseases)

274 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
NCT00999609	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	PHASE3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
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)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT00516477	PHASE1	COMPLETED	Safety Study in Subjects With Leber Congenital Amaurosis