USH2A

Summary

USH2A (usherin, HGNC:12601) is a protein-coding gene on chromosome 1q41, encoding Usherin (O75445). Involved in hearing and vision as member of the USH2 complex.

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 7399 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Usher syndrome type 2 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 9,417 total — 1109 pathogenic, 710 likely-pathogenic
• Phenotypes (HPO): 49
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_206933

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12601
Approved symbol	USH2A
Name	usherin
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	RP39
Ensembl gene	ENSG00000042781
Ensembl biotype	protein_coding
OMIM	608400
Entrez	7399

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 retained_intron

ENST00000307340, ENST00000366942, ENST00000463147, ENST00000481786, ENST00000674083

RefSeq mRNA: 2 — MANE Select: NM_206933 NM_007123, NM_206933

CCDS: CCDS1516, CCDS31025

Canonical transcript exons

ENST00000307340 — 72 exons

Exon	Start	End
ENSE00000479283	216190223	216190367
ENSE00000792371	216196553	216196722
ENSE00000792372	216198315	216198584
ENSE00000792373	216199627	216200121
ENSE00000792381	216321883	216321976
ENSE00000792382	216323474	216323695
ENSE00000792383	216324168	216324352
ENSE00000792384	216325305	216325599
ENSE00000792385	216327591	216327654
ENSE00000801763	216364953	216365085
ENSE00000801764	216418514	216418679
ENSE00000925568	216289280	216289410
ENSE00000925569	216292175	216292370
ENSE00001003462	215878764	215879098
ENSE00001003463	215888426	215889054
ENSE00001068846	215844294	215844496
ENSE00001153938	215639155	215639238
ENSE00001153944	215640558	215640734
ENSE00001153952	215647522	215647730
ENSE00001153960	215648528	215648766
ENSE00001162812	216421852	216422540
ENSE00001163127	215634459	215634703
ENSE00001163132	215650592	215650801
ENSE00001336966	216207273	216207431
ENSE00001336967	216217387	216217550
ENSE00001336970	216231953	216232136
ENSE00001336973	216246585	216247226
ENSE00001336979	216250903	216251098
ENSE00001399207	215970625	215970776
ENSE00001399787	215900755	215900905
ENSE00001400376	215998887	215999058
ENSE00001400939	215965317	215965479
ENSE00001402360	215900075	215900217
ENSE00001403513	215934616	215934795
ENSE00001403988	215845824	215846033
ENSE00001404439	215867007	215867170
ENSE00001405160	215877758	215877880
ENSE00001408126	216175252	216175482
ENSE00001410654	216097083	216097213
ENSE00001412553	215680149	215680376
ENSE00001412762	216083456	216083586
ENSE00001413215	216072889	216072969
ENSE00001414217	215674100	215675616
ENSE00001414403	216078089	216078362
ENSE00001415724	215670972	215671293
ENSE00001415860	216073097	216073300
ENSE00001418469	215628814	215629035
ENSE00001420094	215622891	215625870
ENSE00001421513	215837991	215838103
ENSE00001423492	215790059	215790282
ENSE00001425308	215816997	215817195
ENSE00001426708	215779843	215780041
ENSE00001426779	215782738	215782935
ENSE00001427314	215786670	215786874
ENSE00001428260	215766681	215766788
ENSE00001428791	215743177	215743335
ENSE00001429481	215782042	215782196
ENSE00001429999	215759660	215759843
ENSE00001430384	215741375	215741537
ENSE00001430939	216048534	216048647
ENSE00001431560	215758595	215758752
ENSE00001432095	215728030	215728384
ENSE00001432510	216046431	216046592
ENSE00001433056	215993020	215993167
ENSE00001433737	216070101	216070292
ENSE00001434267	216000403	216000562
ENSE00001443070	215798907	215799125
ENSE00001443071	215813736	215813904
ENSE00003573846	216086719	216086820
ENSE00003624201	216089013	216089139
ENSE00003649854	216084698	216084877
ENSE00003850658	216423214	216423448

Expression profiles

Bgee: expression breadth broad, 30 present calls, max score 75.06.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0270 / max 721.6775, expressed in 30 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17463	1.0270	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.06	gold quality
right lobe of liver	UBERON:0001114	63.12	gold quality
buccal mucosa cell	CL:0002336	62.90	gold quality
hair follicle	UBERON:0002073	61.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.17	gold quality
liver	UBERON:0002107	57.46	gold quality
decidua	UBERON:0002450	56.55	gold quality
bone marrow cell	CL:0002092	55.69	gold quality
sperm	CL:0000019	52.60	silver quality
colonic epithelium	UBERON:0000397	51.18	gold quality
islet of Langerhans	UBERON:0000006	50.77	gold quality
testis	UBERON:0000473	50.54	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
right testis	UBERON:0004534	50.14	gold quality
cortical plate	UBERON:0005343	49.97	gold quality
ventricular zone	UBERON:0003053	49.78	gold quality
left testis	UBERON:0004533	49.72	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
metanephric glomerulus	UBERON:0004736	47.83	gold quality
apex of heart	UBERON:0002098	47.67	gold quality
renal glomerulus	UBERON:0000074	47.64	gold quality
stromal cell of endometrium	CL:0002255	47.55	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
endometrium epithelium	UBERON:0004811	46.85	gold quality
nephron tubule	UBERON:0001231	46.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

65 targeting USH2A, 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-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-298	99.63	67.56	1916

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Conservation of usherin is seen at the nucleotide and amino acid level when comparing the mouse and human gene sequences. Evolutionary conservation of usherin expression supports the important structural and functional role usherin plays in human. (PMID:12433396)
• There is considerable phenotypic heterogeneity arising from missense mutations, nonsense codons, amino acid substitutions, and polymorphisms in USH2A and ranges from the Usher syndrome, to non-syndromic retinitis pigmentosa, to unaffected subjects. (PMID:12525556)
• Comparative analysis of both phenotypic and genotypic data supports the hypothesis that sensorineural hearing loss in patients with Retinitis Pigmentosa may depend on the nature and on the association of the USH2A allele variants present. (PMID:14970843)
• Mutation analysis in 12 unrelated patients with Usher syndrome, each with one mutation in exons 1-21, revealed three different truncating mutations in four patients and two missense mutations in one patient (PMID:15015129)
• One new missense mutation (N357T) occuring within the laminin N-terminal (type VI) domain of usherin was identified by mutation screening of the USH2A gene in 88 probands with Usher syndrome type II (PMID:15025721)
• Three novel mutations were found in USH2A in Usher syndrome type II Dutch patients, one point mutation and two missense mutations. (PMID:15241801)
• USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. (PMID:15671307)
• Mutations in USH2A is associated with Usher syndrome (PMID:15823922)
• The phenotypic data provide evidence for the existence of phenotypic differences between patients with the same genotype. (PMID:16098008)
• 14 novel mutations are associated with Usher syndrome type II. (PMID:17085681)
• Possible involvement of USH2A should be considered in the molecular genetic evaluation of patients with autosomal-recessive RP (retinitis pigmentosa). (PMID:17296898)
• usherin in photoreceptors is tethered via its C terminus to the plasma membrane and its large extracellular domain projects into the periciliary matrix, where they may interact with the connecting cilium to fulfill important structural or signaling roles (PMID:17360538)
• A previously unrecognized cysteine rich structural domain was identified, with three missense mutations that result in the loss of one of a pair of the defining cysteine-cysteine pairs. (PMID:17405132)
• Of 36 novel pathogenic USH2A mutations, 31 were located in exons 22-73 in Scandinavian patients with Usher syndrome type II. (PMID:18273898)
• We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. (PMID:18452394)
• Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (PMID:18463160)
• On average, USH2A patients lose visual acuity faster than rhodopsin patients and slower than (retinitis pigmentosa GTPase regulator) RPGR patients. (PMID:18641288)
• investigation of 9 Usher syndrome type 2 families from Quebec & New Brunswick; seven USH2A mutations were identified in eight patients; one of them, c.4338_4339delCT, accounts for 10 out of 18 disease alleles (PMID:18665195)
• The mutations found in this study broaden the spectrum of USH2A mutations. (PMID:19023448)
• audiometric results for USH2a were most similar to those obtained in patients with sensorineural hearing loss caused by hair cell defects (PMID:19129697)
• Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. (PMID:19737284)
• Data support the fact that c.2299delG/p.E767fs is indeed the most common USH2A mutation found in USH2 patients of European Caucasian background. (PMID:19881469)
• An exhaustive c.2299delG/control haplotype study suggests that the major source of variability in the USH2A gene is recombination. (PMID:20145675)
• The heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or retinitis pigmentosa, respectively. (PMID:20309401)
• 35 USH2A gene deleterious mutations in patients with USH2 were identified including 17 nonsense mutations, 9 frameshift mutations, 5 splice-site mutations, and 4 small in-frame deletions or insertions. Twenty-seven mutations were novel. (PMID:20507924)
• the mutation spectrum for USH2A among Japanese patients largely differs from Caucasian, Jewish and Palestinian patients. (PMID:21593743)
• Seven novel mutations (two missense, one 7-bp deletion, two small deletions, and two nonsense) were detected in the four Chinese families after sequencing analysis of USH2A. (PMID:21686329)
• Mutations in USH2A are responsible for 76.1% of USH2 disease in patients of Spanish origin. (PMID:22004887)
• USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. (PMID:22009552)
• Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis. (PMID:22147658)
• Results establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II. (PMID:22159486)
• Touch sensitivity was impaired in a cohort of individuals carrying pathogenic mutations in the USH2A gene, but not in other cases of Usher syndrome. (PMID:22563300)
• USH2A (c.2276 G>T) is the likely disease-causing gene in two non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. (PMID:22876132)
• the genetic defects in the USH2A gene in Usher syndrome families (PMID:23737954)
• We found that 8 of 23 (35%) mutations in individuals with a monoallelic mutation in USH2A can be attributed to deletions, duplications and a pathogenic deep intronic variant in patients with usher syndrome. (PMID:23924366)
• Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. (PMID:23940504)
• Novel Usher syndrome type 2A (USH2A) compound heterozygous mutations, c.4325T>C (p.F1442S) and c.15188T>G (p.L5063R), located in exons 20 and 70, respectively, were identified as probable causative mutations for retinitis pigmentosa. (PMID:24227914)
• study defined eight additional recurrently mutated genes in SMZL; these genes are CREBBP, CBFA2T3, AMOTL1, FAT4, FBXO11, PLA2G4D, TRRAP and USH2A. (PMID:24349473)
• Here, we report an effect of the common c.2299delG mutation on splicing of exons 12 and 13 of USH2A. (PMID:24607488)
• Data indicate that Usher syndrome 2A protein (USH2A) mutations was approximately 4% among Japanese autosomal recessive retinitis pigmentosa (arRP), and the USH2A mutations differed largely between Japanese patients and reported Caucasian populations. (PMID:25078356)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ush2a	ENSDARG00000029482
mus_musculus	Ush2a	ENSMUSG00000026609
rattus_norvegicus	Ush2a	ENSRNOG00000003738

Paralogs (27): LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Usherin — O75445 (reviewed: O75445)

Alternative names: Usher syndrome type IIa protein, Usher syndrome type-2A protein

All UniProt accessions (1): O75445

UniProt curated annotations — full annotation on UniProt →

Function. Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.

Subunit / interactions. Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane. Interacts with NINL. Interacts with USH1C. Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts with ADGRV1/MASS1 (via N-terminal PDZ domain). Interacts (via the cytoplasmic region) with WHRN. Interacts (via the cytoplasmic region) with PDZD7. Interacts (via the cytoplasmic region) with VEZT and MYO7A (via MyTH4-FERM domains); the interaction associates VEZT with the USH2 complex at the stereocilia base.

Subcellular location. Cell projection. Stereocilium membrane Secreted.

Tissue specificity. Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch’s layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.

Disease relevance. Usher syndrome 2A (USH2A) [MIM:276901] USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 39 (RP39) [MIM:613809] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. Defects in USH2A has been found in a patient with a form of non-syndromic sensorineural hearing loss.

Domain organisation. The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.

Isoforms (3)

UniProt ID	Names	Canonical?
O75445-1	1, b	yes
O75445-2	2
O75445-3	3

RefSeq proteins (2): NP_009054, NP_996816* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001791	Laminin_G	Domain
IPR002049	LE_dom	Domain
IPR003961	FN3_dom	Domain
IPR006558	LamG-like	Domain
IPR008211	Laminin_N	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR050713	RTP_Phos/Ushers	Family

Pfam: PF00041, PF00053, PF00055, PF02210, PF13385

UniProt features (352 total): sequence variant 184, glycosylation site 66, domain 47, disulfide bond 44, splice variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1, region of interest 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for O75445 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Disulfide bonds (44): 518–527, 520–536, 538–549, 552–572, 575–584, 577–605, 608–617, 620–638, 641–655, 643–662, 664–673, 676–691, 694–708, 696–715, 717–726, 729–744, 747–759, 749–766, 768–777, 780–792 …

Glycosylation sites (66): 3330, 3419, 3433, 3653, 3694, 3733, 3780, 3849, 3984, 4202, 4226, 4317, 4418, 4564, 4583, 4691, 4754, 4800, 4943, 4950 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 242 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_NEUROGENESIS, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_EAR_DEVELOPMENT, GOBP_PHOTORECEPTOR_CELL_MAINTENANCE, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, MODULE_99, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_MECHANORECEPTOR_DIFFERENTIATION, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_HAIR_CELL_DIFFERENTIATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_SENSORY_PERCEPTION, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS

GO Biological Process (11): visual perception (GO:0007601), sensory perception of sound (GO:0007605), hair cell differentiation (GO:0035315), inner ear auditory receptor cell differentiation (GO:0042491), establishment of protein localization (GO:0045184), photoreceptor cell maintenance (GO:0045494), maintenance of animal organ identity (GO:0048496), sensory perception of light stimulus (GO:0050953), establishment of localization in cell (GO:0051649), inner ear receptor cell differentiation (GO:0060113), animal organ development (GO:0048513)

GO Molecular Function (4): collagen binding (GO:0005518), myosin binding (GO:0017022), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (18): photoreceptor inner segment (GO:0001917), stereocilia ankle link (GO:0002141), stereocilia ankle link complex (GO:0002142), extracellular region (GO:0005576), basement membrane (GO:0005604), cytoplasm (GO:0005737), apical plasma membrane (GO:0016324), photoreceptor connecting cilium (GO:0032391), stereocilium bundle (GO:0032421), ciliary basal body (GO:0036064), stereocilium membrane (GO:0060171), periciliary membrane compartment (GO:1990075), USH2 complex (GO:1990696), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995), neuronal cell body (GO:0043025), terminal bouton (GO:0043195)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
establishment of localization	2
protein-containing complex	2
plasma membrane region	2
stereocilium	2
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
epidermal cell differentiation	1
neuron differentiation	1
hair cell differentiation	1
inner ear receptor cell differentiation	1
retina homeostasis	1
multicellular organismal process	1
negative regulation of cell differentiation	1
animal organ development	1
sensory perception	1
cellular localization	1
mechanoreceptor differentiation	1
inner ear development	1
anatomical structure development	1
protein-containing complex binding	1
cytoskeletal protein binding	1
protein binding	1
binding	1
stereocilia coupling link	1
stereocilia ankle link	1
extracellular matrix	1
intracellular anatomical structure	1
apical part of cell	1
ciliary transition zone	1
photoreceptor cell cilium	1
cluster of actin-based cell projections	1
microtubule organizing center	1
cilium	1
neuron projection membrane	1
membrane	1
cell periphery	1
somatodendritic compartment	1
cell body	1
axon terminus	1

Protein interactions and networks

STRING

2318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USH2A	WHRN	Q9P202	999
USH2A	ADGRV1	Q8WXG9	989
USH2A	PDZD7	Q9H5P4	976
USH2A	E9PNW1	E9PNW1	973
USH2A	CDH23	Q9H251	947
USH2A	MYO7A	P78427	935
USH2A	RNF139	Q8WU17	932
USH2A	USH1G	Q495M9	924
USH2A	PCDH15	Q96QU1	922
USH2A	LCA5	Q86VQ0	908
USH2A	NINL	Q9Y2I6	899
USH2A	HM13	Q8TCT9	889
USH2A	CLRN1	P58418	883
USH2A	MYO15A	Q9UKN7	814
USH2A	KCTD3	Q9Y597	790

IntAct

6 interactions, top by confidence:

A	B	Type	Score
PDZD7	USH2A	psi-mi:“MI:0915”(physical association)	0.400
MAPT	LANCL1	psi-mi:“MI:0914”(association)	0.350
FOXRED2	CASK	psi-mi:“MI:0914”(association)	0.350
ESR2	PSMD11	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): USH2A (Affinity Capture-MS), USH2A (Synthetic Growth Defect), USH2A (Affinity Capture-MS), USH2A (Affinity Capture-MS), USH2A (Cross-Linking-MS (XL-MS)), USH2A (Co-fractionation), USH2A (Affinity Capture-RNA), USH2A (Two-hybrid)

ESM2 similar proteins: A8XMW6, B8JI71, E3LYX0, G5ECE3, O57409, O75445, O76840, O77469, P07207, P07996, P10040, P13508, P14585, P24348, P24821, P34576, P35440, P35441, P35442, P35448, P78504, P98092, Q00174, Q03350, Q04833, Q06441, Q09967, Q19267, Q19981, Q1HAY7, Q20911, Q21281, Q21313, Q26422, Q28178, Q63722, Q6DI48, Q6NZL8, Q8JGW0, Q8R4U0

Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
USH2A	“form complex”	“USH2 complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

9417 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1109
Likely pathogenic	710
Uncertain significance	2996
Likely benign	3336
Benign	294

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1011581	NM_206933.4(USH2A):c.1387_1416del (p.Tyr463_Asn472del)	Pathogenic
1015542	NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)	Pathogenic
1016214	NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)	Pathogenic
1016577	NM_206933.4(USH2A):c.13084C>T (p.Pro4362Ser)	Pathogenic
1018520	NM_206933.4(USH2A):c.4469C>A (p.Pro1490His)	Pathogenic
1033290	NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)	Pathogenic
1041259	NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys)	Pathogenic
1044853	NM_206933.4(USH2A):c.12269C>G (p.Pro4090Arg)	Pathogenic
1057538	NM_206933.4(USH2A):c.12283G>A (p.Gly4095Ser)	Pathogenic
1065905	NM_206933.4(USH2A):c.10585+3A>G	Pathogenic
1067000	NM_206933.4(USH2A):c.11390-1G>A	Pathogenic
1067066	NM_206933.4(USH2A):c.10939+2T>C	Pathogenic
1067476	NM_206933.4(USH2A):c.14343+1G>A	Pathogenic
1068096	NC_000001.10:g.(?216363565)(216373463_?)del	Pathogenic
1068513	NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer)	Pathogenic
1068610	NC_000001.10:g.(?215987078)(216019375_?)del	Pathogenic
1068611	NC_000001.10:g.(?216495225)(216500996_?)del	Pathogenic
1068612	NC_000001.10:g.(?215901362)(215940140_?)del	Pathogenic
1068613	NC_000001.10:g.(?215844314)(215853718_?)del	Pathogenic
1068614	NC_000001.10:g.(?215799113)(215853728_?)del	Pathogenic
1068852	NM_206933.4(USH2A):c.8993_8994del (p.Ser2998fs)	Pathogenic
1068935	NM_206933.4(USH2A):c.469G>T (p.Glu157Ter)	Pathogenic
1069024	NM_206933.4(USH2A):c.5246T>G (p.Leu1749Ter)	Pathogenic
1069039	NM_206933.4(USH2A):c.15031del (p.Tyr5011fs)	Pathogenic
1069040	NM_206933.4(USH2A):c.14091del (p.Phe4697fs)	Pathogenic
1069500	NM_206933.4(USH2A):c.9165_9168del (p.Ile3055fs)	Pathogenic
1069501	NM_206933.4(USH2A):c.8681+1G>T	Pathogenic
1069548	NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)	Pathogenic
1069610	NM_206933.4(USH2A):c.5614_5615insTAACTTGGCAT (p.Ala1872fs)	Pathogenic
1069656	NM_206933.4(USH2A):c.14124T>G (p.Tyr4708Ter)	Pathogenic

SpliceAI

9743 predictions. Top by Δscore:

Variant	Effect	Δscore
1:215625866:ACATA:A	acceptor_gain	1.0000
1:215625867:CATA:C	acceptor_gain	1.0000
1:215625867:CATAC:C	acceptor_gain	1.0000
1:215625868:ATA:A	acceptor_gain	1.0000
1:215625869:TA:T	acceptor_gain	1.0000
1:215625870:AC:A	acceptor_loss	1.0000
1:215625871:C:CC	acceptor_gain	1.0000
1:215625872:T:C	acceptor_loss	1.0000
1:215628808:ACT:A	donor_loss	1.0000
1:215628810:TCA:T	donor_loss	1.0000
1:215628811:CACCA:C	donor_loss	1.0000
1:215628812:A:AC	donor_gain	1.0000
1:215628812:ACC:A	donor_loss	1.0000
1:215628813:C:CC	donor_gain	1.0000
1:215634500:T:TA	donor_gain	1.0000
1:215639150:TTTAC:T	donor_loss	1.0000
1:215639151:TTACC:T	donor_loss	1.0000
1:215639152:TAC:T	donor_loss	1.0000
1:215639153:ACC:A	donor_loss	1.0000
1:215639154:C:A	donor_loss	1.0000
1:215639234:GAAGG:G	acceptor_gain	1.0000
1:215639235:AAGG:A	acceptor_gain	1.0000
1:215640556:A:C	donor_gain	1.0000
1:215640557:C:CC	donor_gain	1.0000
1:215640731:GGCA:G	acceptor_gain	1.0000
1:215640733:CA:C	acceptor_gain	1.0000
1:215640735:C:CC	acceptor_gain	1.0000
1:215741369:TCTTA:T	donor_loss	1.0000
1:215741370:CTTAC:C	donor_loss	1.0000
1:215741371:TTAC:T	donor_loss	1.0000

AlphaMissense

34081 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:216321968:C:G	C520S	0.992
1:216321969:A:T	C520S	0.992
1:215674521:A:G	W4464R	0.990
1:215674521:A:T	W4464R	0.990
1:215900843:A:G	W2455R	0.988
1:215900843:A:T	W2455R	0.988
1:216321920:C:G	C536S	0.987
1:216321921:A:T	C536S	0.987
1:216321969:A:G	C520R	0.987
1:215680184:A:G	W4087R	0.986
1:215680184:A:T	W4087R	0.986
1:216324183:C:G	C438S	0.985
1:216324184:A:T	C438S	0.985
1:216207369:A:G	W1074R	0.984
1:216207369:A:T	W1074R	0.984
1:216292369:C:G	C549S	0.984
1:216292370:A:T	C549S	0.984
1:215728143:A:G	W3985R	0.983
1:215728143:A:T	W3985R	0.983
1:216321974:C:G	C518S	0.983
1:216321975:A:T	C518S	0.983
1:216324184:A:G	C438R	0.983
1:215674519:C:A	W4464C	0.982
1:215674519:C:G	W4464C	0.982
1:215675058:A:G	W4285R	0.982
1:215675058:A:T	W4285R	0.982
1:215728141:C:A	W3985C	0.982
1:215728141:C:G	W3985C	0.982
1:216200030:A:C	S1136R	0.982
1:216200030:A:T	S1136R	0.982

dbSNP variants (sampled 300 via entrez): RS1000003377 (1:215800044 T>A), RS1000007771 (1:216108871 ATTT>A,ATT,ATTTT), RS1000008907 (1:215760765 T>A,G), RS1000017112 (1:215635025 C>A,T), RS1000018490 (1:216039098 G>A), RS1000031824 (1:215924715 G>T), RS1000032341 (1:215641305 A>G,T), RS1000034534 (1:216373654 G>A), RS1000039334 (1:215967147 T>C), RS1000040532 (1:216352196 G>A), RS1000049639 (1:215974071 T>C,G), RS1000049893 (1:216007573 G>A), RS1000052680 (1:216135404 G>A), RS1000053289 (1:215624389 G>A), RS1000054626 (1:216129222 A>G)

Disease associations

OMIM: gene MIM:608400 | disease phenotypes: MIM:276901, MIM:613809, MIM:276900, MIM:128600, MIM:268000, MIM:120970, MIM:204000, MIM:604116, MIM:310500, MIM:276902, MIM:606705, MIM:213000, MIM:213300, MIM:209900, MIM:220290, MIM:607197

GenCC curated gene-disease

Disease	Classification	Inheritance
Usher syndrome type 2	Definitive	Unknown
Usher syndrome type 2A	Definitive	Autosomal recessive
retinitis pigmentosa 39	Strong	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Usher syndrome type 2	Definitive	AR

Mondo (26): Usher syndrome type 2A (MONDO:0010169), retinitis pigmentosa 39 (MONDO:0013436), inherited retinal dystrophy (MONDO:0019118), Usher syndrome (MONDO:0019501), Usher syndrome type 2 (MONDO:0016484), hearing loss disorder (MONDO:0005365), optic atrophy (MONDO:0003608), ear malformation (MONDO:0007500), retinitis pigmentosa (MONDO:0019200), cone-rod dystrophy (MONDO:0015993), Leber congenital amaurosis (MONDO:0018998), prostate cancer (MONDO:0008315), cone-rod dystrophy 3 (MONDO:0011395), retinal disorder (MONDO:0005283), Usher syndrome type 1 (MONDO:0010168)

Orphanet (17): Usher syndrome type 2 (Orphanet:231178), Usher syndrome (Orphanet:886), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Cone rod dystrophy (Orphanet:1872), Rare genetic deafness (Orphanet:96210), Leber congenital amaurosis (Orphanet:65), Familial prostate cancer (Orphanet:1331), Usher syndrome type 1 (Orphanet:231169), Congenital stationary night blindness (Orphanet:215), Rare non-syndromic genetic deafness (Orphanet:87884), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Isolated cerebellar agenesis (Orphanet:1398), Cerebellar hypoplasia-tapetoretinal degeneration syndrome (Orphanet:2246), Isolated Joubert syndrome (Orphanet:475)

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000359	Abnormality of the inner ear
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000572	Visual loss
HP:0000575	Scotoma
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001123	Visual field defect
HP:0001133	Constriction of peripheral visual field
HP:0001751	Abnormal vestibular function
HP:0002141	Gait imbalance

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002613_1	Chronic mucus hypersecretion	3.000000e-06
GCST008362_145	Birth weight	3.000000e-07
GCST009313_3	Prepulse inhibition of the startle response	1.000000e-06
GCST010056_1	Cholesterol	6.000000e-06
GCST010396_228	Gut microbiota (bacterial taxa, hurdle binary method)	4.000000e-06
GCST012490_150	Femur bone mineral density x serum urate levels interaction	5.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005673	chronic mucus hypersecretion
EFO:0004344	birth weight
EFO:0007969	cognitive inhibition measurement
EFO:0007681	triglyceride change measurement
EFO:0007874	gut microbiome measurement
EFO:0004531	urate measurement

MeSH disease descriptors (20)

Descriptor	Name	Tree numbers
D000550	Amblyopia	C10.228.140.055; C10.597.751.941.073; C11.966.073; C23.888.592.763.941.073
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D001766	Blindness	C10.597.751.941.162; C11.966.075; C23.888.592.763.941.162
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
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
D012162	Retinal Degeneration	C11.270.612; C11.768.585
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
D052245	Usher Syndromes	C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886
C562568	Cerebellar Hypoplasia (supp.)
C565827	Cone-Rod Dystrophy 3 (supp.)
C564675	Deafness, Autosomal Dominant 36 (supp.)
C564609	Deafness, Autosomal Recessive (supp.)
C536122	Night blindness, congenital stationary (supp.)
C580334	Nonsyndromic Deafness (supp.)
C536490	Usher syndrome, type 2A (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12126638	USH2A		0.00	0

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
methyleugenol	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
Azacitidine	increases expression	1
Doxorubicin	decreases expression	1
Fluorouracil	affects reaction, decreases expression	1
Methapyrilene	increases methylation	1
Phthalic Acids	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Asbestos, Serpentine	decreases methylation	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

22 cell lines: 21 induced pluripotent stem cell, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A2TS	GM27973	Finite cell line	Male
CVCL_A4CQ	LEIi014-A	Induced pluripotent stem cell	Female
CVCL_A4CR	LEIi014-B	Induced pluripotent stem cell	Female
CVCL_A4CS	LEIi014-C	Induced pluripotent stem cell	Female
CVCL_B0GR	PUMCHi015-A	Induced pluripotent stem cell	Male
CVCL_B0GS	PUMCHi016-A	Induced pluripotent stem cell	Male
CVCL_B6RR	KLRMMEi002-A	Induced pluripotent stem cell	Male
CVCL_B7MC	INMi005-A	Induced pluripotent stem cell	Male
CVCL_C1WG	SFMUi001-A	Induced pluripotent stem cell	Male
CVCL_C6QB	KLRMMEi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

498 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
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
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
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a 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
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
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)