MYO7A

Summary

MYO7A (myosin VIIA, HGNC:7606) is a protein-coding gene on chromosome 11q13.5, encoding Unconventional myosin-VIIa (Q13402). Myosins are actin-based motor molecules with ATPase activity.

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 4647 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Usher syndrome type 1 (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 5,055 total — 414 pathogenic, 362 likely-pathogenic
• Phenotypes (HPO): 33
• MANE Select transcript: NM_000260

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7606
Approved symbol	MYO7A
Name	myosin VIIA
Location	11q13.5
Locus type	gene with protein product
Status	Approved
Aliases	NSRD2
Ensembl gene	ENSG00000137474
Ensembl biotype	protein_coding
OMIM	276903
Entrez	4647

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 9 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000409619, ENST00000409709, ENST00000409893, ENST00000458169, ENST00000458637, ENST00000467137, ENST00000481328, ENST00000481532, ENST00000526863, ENST00000605744, ENST00000660626, ENST00000669443, ENST00000670577, ENST00000962571, ENST00000962572

RefSeq mRNA: 3 — MANE Select: NM_000260 NM_000260, NM_001127180, NM_001369365

CCDS: CCDS53683, CCDS53684, CCDS91543

Canonical transcript exons

ENST00000409709 — 49 exons

Exon	Start	End
ENSE00000989597	77199535	77199818
ENSE00001040263	77201448	77201638
ENSE00001578796	77128246	77128489
ENSE00002451072	77157279	77157392
ENSE00002453492	77172748	77172885
ENSE00002461626	77160973	77161115
ENSE00002465505	77155907	77156091
ENSE00002467426	77158277	77158430
ENSE00002467986	77174756	77174914
ENSE00002472046	77166056	77166162
ENSE00002475117	77160163	77160282
ENSE00002475451	77156862	77157004
ENSE00002496963	77156660	77156781
ENSE00002513317	77159447	77159523
ENSE00002526951	77162853	77162988
ENSE00002530052	77162120	77162330
ENSE00002531118	77147798	77147950
ENSE00003476309	77202300	77202424
ENSE00003483359	77211152	77211337
ENSE00003483546	77190020	77190139
ENSE00003487793	77184588	77184715
ENSE00003505770	77212952	77213035
ENSE00003507277	77181951	77182154
ENSE00003514114	77183068	77183157
ENSE00003530270	77207289	77207402
ENSE00003535185	77213860	77213979
ENSE00003537769	77181380	77181589
ENSE00003549180	77179045	77179129
ENSE00003549304	77175372	77175464
ENSE00003560520	77180374	77180481
ENSE00003562234	77142709	77142822
ENSE00003590185	77130589	77130652
ENSE00003593861	77197481	77197598
ENSE00003597654	77190697	77190870
ENSE00003600559	77192051	77192278
ENSE00003600784	77182424	77182600
ENSE00003601501	77189344	77189470
ENSE00003620209	77203060	77203217
ENSE00003630464	77194354	77194524
ENSE00003634057	77206097	77206202
ENSE00003656564	77179735	77179953
ENSE00003660293	77177549	77177643
ENSE00003661756	77208430	77208517
ENSE00003665330	77211821	77211937
ENSE00003665828	77198495	77198621
ENSE00003668983	77204076	77204229
ENSE00003672491	77208697	77208803
ENSE00003694367	77205462	77205617
ENSE00003822371	77214607	77215241

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 94.56.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3651 / max 155.7519, expressed in 577 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115973	0.5007	159
115979	0.4686	198
115977	0.3430	160
115980	0.2955	138
115975	0.2429	24
115972	0.1822	77
115978	0.1258	68
115982	0.0985	42
115981	0.0766	39
115974	0.0314	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	94.56	gold quality
right adrenal gland	UBERON:0001233	94.17	gold quality
left adrenal gland	UBERON:0001234	93.90	gold quality
left adrenal gland cortex	UBERON:0035825	93.86	gold quality
adrenal cortex	UBERON:0001235	93.10	gold quality
adrenal gland	UBERON:0002369	91.71	gold quality
left testis	UBERON:0004533	90.11	gold quality
right lobe of liver	UBERON:0001114	90.07	gold quality
right testis	UBERON:0004534	89.90	gold quality
endometrium epithelium	UBERON:0004811	89.47	silver quality
adenohypophysis	UBERON:0002196	88.57	gold quality
pituitary gland	UBERON:0000007	88.21	gold quality
buccal mucosa cell	CL:0002336	87.05	silver quality
testis	UBERON:0000473	86.86	gold quality
spleen	UBERON:0002106	86.45	gold quality
paraflocculus	UBERON:0005351	85.66	silver quality
frontal pole	UBERON:0002795	85.55	silver quality
pigmented layer of retina	UBERON:0001782	85.10	gold quality
middle frontal gyrus	UBERON:0002702	83.17	silver quality
liver	UBERON:0002107	83.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.22	gold quality
apex of heart	UBERON:0002098	81.10	gold quality
cervix squamous epithelium	UBERON:0006922	80.29	gold quality
placenta	UBERON:0001987	80.12	gold quality
sural nerve	UBERON:0015488	79.13	gold quality
omental fat pad	UBERON:0010414	78.27	gold quality
peritoneum	UBERON:0002358	78.25	gold quality
adipose tissue of abdominal region	UBERON:0007808	77.24	gold quality
cerebellar vermis	UBERON:0004720	77.23	gold quality
subcutaneous adipose tissue	UBERON:0002190	76.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.85
E-MTAB-6058	no	111.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting MYO7A, 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-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6881-3P	98.04	68.24	1777
HSA-MIR-676-3P	97.86	65.70	668
HSA-MIR-3909	97.55	66.78	887
HSA-MIR-6515-5P	97.08	65.48	1219
HSA-MIR-410-5P	96.55	66.28	459
HSA-MIR-4633-5P	96.17	66.36	501

Literature-anchored findings (GeneRIF, showing 40)

• the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia (PMID:12485990)
• Expressed in retina. Domain structure. Carrier proteins determine cellular function. (PMID:15180257)
• A new heterozygous missense mutation (c.2557C>T; p.R853C) was found in autosomal dominant non-syndromic hearing loss that changes an invariant residue of the fifth IQ motif, a putative calmodulin (CaM) binding domain. (PMID:15300860)
• Mutations in MYO7A is associated with Usher syndrome (PMID:15823922)
• MYO7A is the gene associated with the Usher syndromes. (PMID:15965244)
• Myosin-VIIa is associated with cathepsin D- and Rab7-positive lysosomes. Association of myosin-VIIa with lysosomes was Rab7 independent. These studies suggest that myosin-VIIa is a lysosome motor. (PMID:16001398)
• A genome-wide scan found linkage to locus DFNA11. Sequencing of the MYO7A gene in the linked region identified a new missense mutation resulting in an Ala230Val change in the motor domain of the myosin VIIA, causing a dominant form of deafness. (PMID:16449806)
• there is an absence of hot spot mutations in the MYO7A gene and this gene plays a major role in Usher syndrome (PMID:16470552)
• Three new pathological mutations causing either premature termination of translation or replacement of an evolutionary conserved MYO7A amino acid. (PMID:17093394)
• 19 different mutations were identified, 13 of which were novel. These variants include two nonsense mutations, one putative splice site mutation, one insertion and five deletions in coding sequence and 10 missense mutations. (PMID:17361009)
• Significant linkage in DFNA11 markers was found in hereditary deafness. (PMID:17702415)
• Missense change p.Y1719C. Homozygous c.1687G>A mutation in last nucleotide of exon 14, predicted to result in aberrant splicing and may lead to loss of MYO7A transcript. P.Y1719C is not disease-causing. Frequent polymorphism in the Moroccan population. (PMID:17960123)
• p.E1716del causes a less severe phenotype (DFNB2) than the USH1B-associated alleles because the resulting protein retains some degree of normal function. (PMID:18181211)
• Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases). Two new mutations in the MYO7A gene never reported before were found. (PMID:18323324)
• Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (PMID:18463160)
• the mutations responsible for USH1B cause the complete loss of the actin-activated ATPase activity or the reduction of duty ratio of myosin VIIa. (PMID:18700726)
• Patients with MYO7A-USH1B can have regions of structurally and functionally normal retina with definable transitions to severe laminopathy and visual loss. (PMID:19074810)
• There is an association with the variant S1666C (rs2276288) in the MYO7A gene and the risk of developing malignant melanoma. (PMID:19320733)
• The data indicate that melanosomes in the retinal pigment epithelium and choroid are the dominant source of NIR-autofluorescence from the posterior region of the eye with ushers syndrome due to MYO7A mutation. (PMID:19324852)
• Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1, DFNB2, DFNB12, and DFNB23. (PMID:19375528)
• Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation (PMID:20132242)
• Five mutations (three in MYO7A and two in CDH23) were identified in four of five unrelated patients with Usher syndrome type 1. (PMID:20844544)
• The molecular determinant of a mild form of retinopathy in association with a subtle splicing modulation of MYO7A mRNA, was investigated. (PMID:21031134)
• Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families. (PMID:21150918)
• a single nucleotide polymorphism (SNP) T/C at position -4128 in the wild-type MYO7A promoter allele that sorts with the degree of hearing loss severity in the pedigree (PMID:21378158)
• association of myosin VIIA monomers with membrane via the MyRip/Rab27a complex facilitates the cargo-transporting activity of myosin VIIA, which is achieved by cluster formation on the membrane (PMID:21482763)
• The results suggested that in a cellular environment, compartment-specific fluctuations in free Mg2+ ions can mediate the conditional switching of myosin-7a between cargo moving and tension bearing modes. (PMID:21687988)
• The authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes. (PMID:21873662)
• in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A (PMID:21901789)
• Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. (PMID:22219650)
• Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A. (PMID:22681893)
• A previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings. (PMID:22690115)
• Our results show that MYO7A therapy with AAV2 or AAV5 single vectors is efficacious; however, the dual AAV2 approach proved to be less effective. (PMID:23344065)
• A new missense mutation (Arg668His) in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). (PMID:23383098)
• Two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with Usher syndrome type 1, were identified. (PMID:23559863)
• Hearing loss was found to co-segregate with locus-specific STR markers for MYO7A in 32 Pakistani families. (PMID:23770805)
• Data show that AAV-mediated hMYO7A gene transfer to the mice sh1(-/-) retina is effective. (PMID:23991031)
• Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa and whirlin, suggesting CIB2 is a Ca2+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells. (PMID:24022220)
• The MYO7A gene is responsible for two distinct diseases and gives evidence that the p.P1887L mutation in a homozygous state may be responsible for nonsyndromic hearing loss. (PMID:24194196)
• MYO7A-related ocular disease is variable. Central vision typically remains preserved at least until the third decade of life, with 50% of affected individuals reaching legal blindness by 40 years of age. (PMID:24199935)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo7aa	ENSDARG00000099871
mus_musculus	Myo7a	ENSMUSG00000030761
rattus_norvegicus	Myo7a	ENSRNOG00000013641
drosophila_melanogaster	ck	FBGN0000317

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-VIIa — Q13402 (reviewed: Q13402)

All UniProt accessions (6): A0A590UJ94, A0A590UJG0, A0A590UJR8, B9A012, Q13402, H7C4D8

UniProt curated annotations — full annotation on UniProt →

Function. Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity. Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Subunit / interactions. Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. Identified in a complex with USH1C and USH1G. Interacts with MYRIP. Interacts with RPE65. Interacts with CIB2. May interact with CALM. Interacts with WHRN. Interacts with PLEKHB1 (via PH domain). Interacts with PCDH15. Interacts with TWF2. Interacts with USH1G. Interacts with MYH9. Interacts (via MyTH4-FERM domains) with cytoplasmic regions of ADGRV1 and USH2A. Interacts with PDZD7 (via MyTH4-FERM domains). Interacts with CALML4.

Subcellular location. Cytoplasm. Cell cortex. Cytoskeleton. Synapse.

Tissue specificity. Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.

Disease relevance. Usher syndrome 1B (USH1B) [MIM:276900] 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. ATP hydrolysis is inhibited by Mg(2+), already at a concentration of 0.4 mM.

Domain organisation. The SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q13402-1	1	yes
Q13402-2	2
Q13402-3	3
Q13402-4	4
Q13402-5	5
Q13402-6	6
Q13402-7	7
Q13402-8	8

RefSeq proteins (3): NP_000251, NP_001120652, NP_001356294 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR000299	FERM_domain	Domain
IPR000857	MyTH4_dom	Domain
IPR001452	SH3_domain	Domain
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002404	IRS_PTB	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR035963	FERM_2	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036106	MYSc_Myo7	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR038185	MyTH4_dom_sf	Homologous_superfamily
IPR041793	MyoVII_FERM_C1	Domain
IPR041794	MyoVII_FERM_C2	Domain
IPR051567	Unconventional_Myosin_ATPase	Family
IPR057130	Myosin_VII_N	Domain

Pfam: PF00063, PF00612, PF00784, PF02174, PF21989, PF21998, PF24123

UniProt features (151 total): sequence variant 74, helix 23, strand 13, domain 11, splice variant 10, sequence conflict 7, turn 7, region of interest 2, modified residue 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5MV9	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13402-F1	77.73	0.16

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 (1): 158–165

Post-translational modifications (2): 1569, 1571

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea
R-HSA-2187338	Visual phototransduction
R-HSA-9659379	Sensory processing of sound
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 322 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PIGMENT_GRANULE_LOCALIZATION, GOBP_VACUOLE_ORGANIZATION, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GOBP_CELLULAR_PIGMENTATION, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, chr11q13

GO Biological Process (32): phagolysosome assembly (GO:0001845), intracellular protein transport (GO:0006886), endocytosis (GO:0006897), actin filament organization (GO:0007015), lysosome organization (GO:0007040), sensory organ development (GO:0007423), visual perception (GO:0007601), sensory perception of sound (GO:0007605), intracellular protein localization (GO:0008104), actin filament-based movement (GO:0030048), eye photoreceptor cell development (GO:0042462), mechanoreceptor differentiation (GO:0042490), sensory perception of light stimulus (GO:0050953), equilibrioception (GO:0050957), pigment granule transport (GO:0051904), auditory receptor cell stereocilium organization (GO:0060088), cochlea development (GO:0090102), system process (GO:0003008), phagocytosis (GO:0006909), sensory perception (GO:0007600), anatomical structure morphogenesis (GO:0009653), cell projection organization (GO:0030030), inner ear morphogenesis (GO:0042472), inner ear auditory receptor cell differentiation (GO:0042491), animal organ development (GO:0048513), neuron development (GO:0048666), system development (GO:0048731), inner ear development (GO:0048839), pigment granule localization (GO:0051875), inner ear receptor cell differentiation (GO:0060113), inner ear receptor cell stereocilium organization (GO:0060122), sensory organ morphogenesis (GO:0090596)

GO Molecular Function (13): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), protein domain specific binding (GO:0019904), spectrin binding (GO:0030507), identical protein binding (GO:0042802), ADP binding (GO:0043531), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515), protein-containing complex binding (GO:0044877)

GO Cellular Component (20): photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), cytosol (GO:0005829), microvillus (GO:0005902), cell cortex (GO:0005938), actin cytoskeleton (GO:0015629), membrane (GO:0016020), apical plasma membrane (GO:0016324), myosin VII complex (GO:0031477), photoreceptor connecting cilium (GO:0032391), stereocilium (GO:0032420), melanosome (GO:0042470), synapse (GO:0045202), stereocilium base (GO:0120044), upper tip-link density (GO:1990435), cytoskeleton (GO:0005856), myosin complex (GO:0016459), photoreceptor cell cilium (GO:0097733)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Sensory processing of sound	2
Sensory Perception	2
Visual phototransduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
protein binding	3
sensory perception	2
adenyl ribonucleotide binding	2
cytoskeletal protein binding	2
protein-containing complex binding	2
binding	2
photoreceptor cell cilium	2
cytoplasm	2
actin-based cell projection	2
neuron projection	2
phagocytosis	1
lysosome organization	1
vesicle organization	1
organelle assembly	1
phagosome maturation	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
lytic vacuole organization	1
animal organ development	1
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
macromolecule localization	1
actin filament-based process	1
eye photoreceptor cell differentiation	1
photoreceptor cell development	1
neuron differentiation	1
neuromuscular process controlling balance	1
transport	1
pigment granule localization	1
establishment of pigment granule localization	1
auditory receptor cell morphogenesis	1
inner ear receptor cell stereocilium organization	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

10 interactions, top by confidence:

A	B	Type	Score
ADAM10	MYO7A	psi-mi:“MI:0407”(direct interaction)	0.440
Whrn	MYO7A	psi-mi:“MI:0915”(physical association)	0.400
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
LANCL1	MYO7A	psi-mi:“MI:0914”(association)	0.350
MYO7A	RPE65	psi-mi:“MI:0403”(colocalization)	0.270
STK38L	SH3PXD2B	psi-mi:“MI:2364”(proximity)	0.270
STK38L	CCDC187	psi-mi:“MI:2364”(proximity)	0.270
RIPOR1	MYO7A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): MYO7A (Affinity Capture-MS), PRKAR1A (Two-hybrid), VEZT (Two-hybrid), MYO7A (Affinity Capture-MS), MYO7A (Affinity Capture-MS), MYO7A (Affinity Capture-MS), MYO7A (Protein-RNA), MYO7A (Affinity Capture-MS), MYO7A (Reconstituted Complex), VEZT (Affinity Capture-Western), CTNNA1 (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western), CDH1 (Affinity Capture-Western), KEAP1 (Two-hybrid), MYO7A (Affinity Capture-MS)

ESM2 similar proteins: A0MP03, A3LYL7, A5DKH0, A5PF48, A6ZMG6, E7F9L8, E9Q634, F1PRN2, F4I460, F4JM19, O00159, O00160, O08638, O88329, O94832, P10568, P10587, P11055, P35748, P35749, P70248, P97479, Q01989, Q04439, Q076A3, Q12965, Q13402, Q17LW0, Q17R14, Q23979, Q27966, Q29P71, Q5SYD0, Q5ZLA6, Q62774, Q62812, Q63355, Q63356, Q63357, Q6BUQ2

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, D3ZJP6, E7F9L8, E9Q634, F1PRN2, F4HWY6, F4I5Q6, F4IUG9, F4IVR7, F4JM19, F4K5J1, K7U9N8, O00159, O00160, O43795, O88329, O94832, P0CP00, P0CP01, P10568, P10569, P19706

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MYO7A	“form complex”	“TIP-LINK complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

5055 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	414
Likely pathogenic	362
Uncertain significance	1556
Likely benign	1993
Benign	170

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1024657	NM_000260.4(MYO7A):c.492G>C (p.Lys164Asn)	Pathogenic
1068524	NM_000260.4(MYO7A):c.4422T>G (p.Tyr1474Ter)	Pathogenic
1068826	NM_000260.4(MYO7A):c.2440dup (p.Arg814fs)	Pathogenic
1070081	NM_000260.4(MYO7A):c.2722del (p.Asp908fs)	Pathogenic
1070293	NM_000260.4(MYO7A):c.5623C>T (p.Gln1875Ter)	Pathogenic
1070468	NC_000011.10:g.77158278del	Pathogenic
1070839	NM_000260.4(MYO7A):c.6348_6352dup (p.Lys2118delinsArgTer)	Pathogenic
1071057	NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)	Pathogenic
1071264	NM_000260.4(MYO7A):c.5906dup (p.Leu1969fs)	Pathogenic
1071807	NM_000260.4(MYO7A):c.6297del (p.Phe2100fs)	Pathogenic
1072636	NM_000260.4(MYO7A):c.4521_4522del (p.Leu1508fs)	Pathogenic
1073624	NM_000260.4(MYO7A):c.4770dup (p.Arg1591fs)	Pathogenic
1073698	NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter)	Pathogenic
1073929	NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter)	Pathogenic
1074478	NM_000260.4(MYO7A):c.849+2T>C	Pathogenic
1074479	NM_000260.4(MYO7A):c.1003+1G>A	Pathogenic
1074848	NM_000260.4(MYO7A):c.4800del (p.Leu1601fs)	Pathogenic
1075115	NM_000260.4(MYO7A):c.3249C>A (p.Tyr1083Ter)	Pathogenic
1075570	NM_000260.4(MYO7A):c.2186del (p.Lys729fs)	Pathogenic
1076114	NM_000260.4(MYO7A):c.4436del (p.Phe1479fs)	Pathogenic
1076122	NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)	Pathogenic
1076809	NM_000260.4(MYO7A):c.4674G>A (p.Trp1558Ter)	Pathogenic
1076994	NM_000260.4(MYO7A):c.1717del (p.Leu573fs)	Pathogenic
1076995	NM_000260.4(MYO7A):c.3564_3570del (p.Ser1187_Tyr1188insTer)	Pathogenic
1180739	NM_000260.4(MYO7A):c.5567del (p.Arg1856fs)	Pathogenic
11847	NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)	Pathogenic
11848	NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	Pathogenic
11849	NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)	Pathogenic
1184925	NM_000260.4(MYO7A):c.6089del (p.Thr2030fs)	Pathogenic
11853	NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)	Pathogenic

SpliceAI

8991 predictions. Top by Δscore:

Variant	Effect	Δscore
11:77142703:CCATA:C	acceptor_loss	1.0000
11:77142704:CATA:C	acceptor_loss	1.0000
11:77142706:TAGGG:T	acceptor_loss	1.0000
11:77142707:A:C	acceptor_loss	1.0000
11:77142707:AGGG:A	acceptor_gain	1.0000
11:77142708:G:C	acceptor_loss	1.0000
11:77142708:GGGG:G	acceptor_gain	1.0000
11:77142819:CAAT:C	donor_gain	1.0000
11:77142819:CAATG:C	donor_loss	1.0000
11:77142821:AT:A	donor_gain	1.0000
11:77142821:ATG:A	donor_loss	1.0000
11:77142822:TGT:T	donor_loss	1.0000
11:77142823:G:GC	donor_loss	1.0000
11:77142823:G:GG	donor_gain	1.0000
11:77142824:TGA:T	donor_loss	1.0000
11:77142825:GAG:G	donor_loss	1.0000
11:77147946:TCTAC:T	donor_gain	1.0000
11:77147947:CTACG:C	donor_loss	1.0000
11:77147948:TACGT:T	donor_loss	1.0000
11:77147949:ACGT:A	donor_loss	1.0000
11:77147950:CGTG:C	donor_loss	1.0000
11:77147951:G:GG	donor_gain	1.0000
11:77147951:GT:G	donor_loss	1.0000
11:77147952:T:A	donor_loss	1.0000
11:77156655:T:TA	acceptor_gain	1.0000
11:77156658:A:AG	acceptor_gain	1.0000
11:77156658:AGT:A	acceptor_gain	1.0000
11:77156658:AGTG:A	acceptor_gain	1.0000
11:77156658:AGTGG:A	acceptor_gain	1.0000
11:77156659:G:GC	acceptor_gain	1.0000

AlphaMissense

14632 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:77147919:T:C	L85P	1.000
11:77156034:C:A	A138D	1.000
11:77156090:A:C	S157R	1.000
11:77156660:T:A	S157R	1.000
11:77156660:T:G	S157R	1.000
11:77156661:G:A	G158R	1.000
11:77156661:G:C	G158R	1.000
11:77156661:G:T	G158W	1.000
11:77156662:G:A	G158E	1.000
11:77156704:T:C	L172P	1.000
11:77156763:G:C	A192P	1.000
11:77156867:G:T	G200W	1.000
11:77156868:G:A	G200E	1.000
11:77156930:T:C	F221L	1.000
11:77156931:T:C	F221S	1.000
11:77156932:C:A	F221L	1.000
11:77156932:C:G	F221L	1.000
11:77156949:T:A	I227N	1.000
11:77158350:T:C	L308P	1.000
11:77161079:T:C	L436P	1.000
11:77161091:G:A	G440E	1.000
11:77162158:T:C	L461P	1.000
11:77162241:T:C	F489L	1.000
11:77162243:C:A	F489L	1.000
11:77162243:C:G	F489L	1.000
11:77162302:T:C	L509P	1.000
11:77162322:T:C	F516L	1.000
11:77162324:C:A	F516L	1.000
11:77162324:C:G	F516L	1.000
11:77166074:G:C	R570P	1.000

dbSNP variants (sampled 300 via entrez): RS1000052538 (11:77184333 G>A,C), RS1000058995 (11:77211023 T>C), RS1000108583 (11:77178985 C>T), RS1000140997 (11:77126993 C>A,G), RS1000193307 (11:77199252 A>G), RS1000194093 (11:77164169 A>G), RS1000246671 (11:77173663 C>G,T), RS1000251600 (11:77200721 G>A), RS1000252160 (11:77159136 A>G), RS1000337889 (11:77132556 T>G), RS1000475904 (11:77128203 C>T), RS1000511860 (11:77213639 C>T), RS1000527156 (11:77200417 T>C), RS1000556151 (11:77144744 T>C), RS1000629143 (11:77170658 A>G)

Disease associations

OMIM: gene MIM:276903 | disease phenotypes: MIM:276900, MIM:600060, MIM:601317, MIM:128600, MIM:268000, MIM:220290, MIM:607197, MIM:156000, MIM:274600, MIM:619274, MIM:609129, MIM:120970, MIM:216550

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal recessive nonsyndromic hearing loss 2	Definitive	Autosomal recessive
Usher syndrome type 1	Definitive	Autosomal recessive
nonsyndromic genetic hearing loss	Definitive	Autosomal dominant
Usher syndrome type 1B	Definitive	Autosomal recessive
autosomal dominant nonsyndromic hearing loss 11	Strong	Autosomal dominant
Usher syndrome type 2	Supportive	Autosomal recessive
autosomal dominant nonsyndromic hearing loss	Supportive	Autosomal dominant
hearing loss, autosomal recessive	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
Usher syndrome type 1	Definitive	AR
nonsyndromic genetic hearing loss	Definitive	AD

Mondo (26): Usher syndrome type 1B (MONDO:0700087), Usher syndrome type 1 (MONDO:0010168), autosomal recessive nonsyndromic hearing loss 2 (MONDO:0010807), autosomal dominant nonsyndromic hearing loss 11 (MONDO:0011032), hearing loss disorder (MONDO:0005365), Usher syndrome (MONDO:0019501), inherited retinal dystrophy (MONDO:0019118), nonsyndromic genetic hearing loss (MONDO:0019497), ear malformation (MONDO:0007500), retinitis pigmentosa (MONDO:0019200), hearing loss, autosomal recessive (MONDO:0019588), retinal disorder (MONDO:0005283), hypoglycemia (MONDO:0004946), sensorineural hearing loss disorder (MONDO:0020678), microcephaly (MONDO:0001149)

Orphanet (15): Usher syndrome type 1 (Orphanet:231169), Usher syndrome (Orphanet:886), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Rare non-syndromic genetic deafness (Orphanet:87884), Rare genetic deafness (Orphanet:96210), Retinitis pigmentosa (Orphanet:791), Pendred syndrome (Orphanet:705), Cone rod dystrophy (Orphanet:1872), Usher syndrome type 2 (Orphanet:231178), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Cohen syndrome (Orphanet:193), NON RARE IN EUROPE: Menière disease (Orphanet:45360), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000359	Abnormality of the inner ear
HP:0000375	Abnormal cochlea morphology
HP:0000407	Sensorineural hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000545	Myopia
HP:0000550	Undetectable electroretinogram
HP:0000551	Color vision defect
HP:0000572	Visual loss
HP:0000575	Scotoma
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0001133	Constriction of peripheral visual field
HP:0001270	Motor delay
HP:0001751	Abnormal vestibular function
HP:0002141	Gait imbalance
HP:0002321	Vertigo
HP:0002360	Sleep disturbance
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0007663	Reduced visual acuity
HP:0007730	Iris hypopigmentation
HP:0007994	Peripheral visual field loss
HP:0008555	Absent vestibular function

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002591_6	Lewy body disease	4.000000e-06
GCST003264_1093	Post bronchodilator FEV1/FVC ratio	4.000000e-06
GCST007277_15	Tourette syndrome	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006799	Lewy body dementia measurement
EFO:0004713	FEV/FVC ratio

MeSH disease descriptors (20)

Descriptor	Name	Tree numbers
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
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
D007003	Hypoglycemia	C18.452.394.984
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008575	Meniere Disease	C09.218.568.217.500
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
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
C538268	Auditory neuropathy (supp.)
C536438	Cohen syndrome (supp.)
C563353	Deafness, Autosomal Dominant 11 (supp.)
C564609	Deafness, Autosomal Recessive (supp.)
C564007	Deafness, Autosomal Recessive 2 (supp.)
C580334	Nonsyndromic Deafness (supp.)
C536648	Pendred syndrome (supp.)
C536485	Usher syndrome, type 1B (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	4
Valproic Acid	affects cotreatment, increases expression	4
Tobacco Smoke Pollution	decreases methylation, increases expression	2
Aflatoxin B1	decreases expression, affects methylation	2
bisphenol A	affects cotreatment, increases methylation	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1
aflatoxin B2	affects methylation	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Amphotericin B	increases expression	1
Arsenic	affects methylation	1
Asbestos	affects expression	1
Cadmium	decreases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	affects cotreatment, increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Ozone	increases abundance, affects expression	1
Quercetin	decreases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
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NCT03780257	PHASE1/PHASE2	COMPLETED	Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene