ADGRV1

Summary

ADGRV1 (adhesion G protein-coupled receptor V1, HGNC:17416) is a protein-coding gene on chromosome 5q14.3, encoding Adhesion G-protein coupled receptor V1 (Q8WXG9). G-protein coupled receptor which has an essential role in the development of hearing and vision.

This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described.

Source: NCBI Gene 84059 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Usher syndrome type 2 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 29
• Clinical variants (ClinVar): 7,213 total — 496 pathogenic, 172 likely-pathogenic
• Phenotypes (HPO): 54
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_032119

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17416
Approved symbol	ADGRV1
Name	adhesion G protein-coupled receptor V1
Location	5q14.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp761P0710, KIAA0686, FEB4, VLGR1
Ensembl gene	ENSG00000164199
Ensembl biotype	protein_coding
OMIM	602851
Entrez	84059

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 15 retained_intron, 10 protein_coding, 6 nonsense_mediated_decay, 6 protein_coding_CDS_not_defined

ENST00000405460, ENST00000425867, ENST00000450321, ENST00000504142, ENST00000505845, ENST00000507314, ENST00000508842, ENST00000509621, ENST00000513828, ENST00000638316, ENST00000638510, ENST00000638585, ENST00000638638, ENST00000638975, ENST00000638990, ENST00000639212, ENST00000639431, ENST00000639473, ENST00000639530, ENST00000639676, ENST00000639707, ENST00000639821, ENST00000639884, ENST00000640012, ENST00000640061, ENST00000640083, ENST00000640109, ENST00000640256, ENST00000640281, ENST00000640369, ENST00000640374, ENST00000640403, ENST00000640407, ENST00000640464, ENST00000640729, ENST00000640779, ENST00000640815

RefSeq mRNA: 1 — MANE Select: NM_032119 NM_032119

CCDS: CCDS47246

Canonical transcript exons

ENST00000405460 — 90 exons

Exon	Start	End
ENSE00001082315	90644706	90644869
ENSE00001082316	90628562	90628832
ENSE00001082319	90629210	90629539
ENSE00001082327	90637725	90637948
ENSE00001082331	90645968	90646091
ENSE00001082335	90622597	90622701
ENSE00001082336	90643803	90643983
ENSE00001082339	90625130	90625243
ENSE00001082341	90635114	90635290
ENSE00001082343	90617804	90617953
ENSE00001082345	90627211	90627776
ENSE00001082356	90685780	90685995
ENSE00001082358	90689861	90690076
ENSE00001082361	90690797	90691041
ENSE00001153103	90683586	90684195
ENSE00001153108	90681315	90681454
ENSE00001153111	90679549	90679629
ENSE00001153118	90672546	90672722
ENSE00001153122	90657905	90658278
ENSE00001153127	90653209	90653952
ENSE00001153132	90652346	90652563
ENSE00001153139	90651604	90651730
ENSE00001153142	90647498	90647764
ENSE00001153190	90619086	90619181
ENSE00001547340	90614835	90615019
ENSE00002429819	90710981	90711059
ENSE00002434084	90704389	90704488
ENSE00002435538	90745046	90745265
ENSE00002436892	90840578	90840985
ENSE00002439137	91072447	91072604
ENSE00002441257	90725549	90725656
ENSE00002442952	90754983	90755185
ENSE00002443246	90783124	90783325
ENSE00002443652	90756979	90757161
ENSE00002446036	90776453	90776576
ENSE00002451441	91153221	91153398
ENSE00002452670	90753574	90753829
ENSE00002453221	90823425	90823596
ENSE00002454350	91102219	91102340
ENSE00002458409	90696937	90697146
ENSE00002458576	90729642	90729764
ENSE00002460309	90703665	90703795
ENSE00002460384	90720935	90721059
ENSE00002463565	90750551	90750697
ENSE00002466087	90778427	90778609
ENSE00002466493	90745591	90745795
ENSE00002466805	90810233	90811338
ENSE00002470236	90712287	90712428
ENSE00002472076	90788071	90788310
ENSE00002472087	90763305	90763469
ENSE00002472310	90693890	90694701
ENSE00002473152	90802739	90802882
ENSE00002474809	90790873	90791346
ENSE00002479246	90783838	90784057
ENSE00002480473	90965415	90965531
ENSE00002490465	90778865	90779097
ENSE00002490568	90777905	90778043
ENSE00002493740	90728669	90728933
ENSE00002495298	90705400	90705579
ENSE00002495629	90815619	90815736
ENSE00002497626	90756454	90756630
ENSE00002500866	90781430	90781578
ENSE00002503764	90759409	90759588
ENSE00002504107	90854062	90854201
ENSE00002504146	90692605	90692786
ENSE00002504391	90720048	90720223
ENSE00002510834	90828944	90829186
ENSE00002510973	90805284	90805458
ENSE00002512813	90807602	90807737
ENSE00002515000	90789702	90789851
ENSE00002515073	90708816	90708909
ENSE00002517333	90853284	90853533
ENSE00002517824	90985344	90985522
ENSE00002518095	90711184	90711322
ENSE00002523496	90774186	90774303
ENSE00002523679	91150030	91150221
ENSE00002529941	90716467	90716729
ENSE00002532651	90725086	90725232
ENSE00002532876	90706231	90706394
ENSE00002533445	90724832	90724989
ENSE00003467808	90642636	90642762
ENSE00003478886	90863757	90863857
ENSE00003531435	90675243	90675445
ENSE00003561616	90642856	90643041
ENSE00003583548	90674054	90674234
ENSE00003614701	90855741	90855901
ENSE00003645521	90676080	90676209
ENSE00003684955	90848637	90848821
ENSE00003804998	91163782	91164437
ENSE00003810749	90558797	90558917

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 99.59.

FANTOM5 (CAGE): breadth broad, TPM avg 7.8562 / max 688.9735, expressed in 605 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57518	5.5581	530
57519	0.7590	296
57517	0.4728	236
57523	0.3852	61
57524	0.1878	57
203625	0.1619	43
57526	0.0935	45
57522	0.0924	42
57534	0.0758	12
57525	0.0695	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	99.59	gold quality
right adrenal gland	UBERON:0001233	99.55	gold quality
left adrenal gland	UBERON:0001234	99.44	gold quality
ventricular zone	UBERON:0003053	99.36	gold quality
left adrenal gland cortex	UBERON:0035825	99.34	gold quality
adrenal cortex	UBERON:0001235	99.12	gold quality
adrenal gland	UBERON:0002369	97.40	gold quality
ganglionic eminence	UBERON:0004023	96.78	gold quality
caudate nucleus	UBERON:0001873	95.63	gold quality
nucleus accumbens	UBERON:0001882	94.04	gold quality
putamen	UBERON:0001874	93.59	gold quality
amygdala	UBERON:0001876	93.43	gold quality
adenohypophysis	UBERON:0002196	91.30	gold quality
kidney epithelium	UBERON:0004819	91.27	gold quality
adrenal tissue	UBERON:0018303	91.08	gold quality
right frontal lobe	UBERON:0002810	90.84	gold quality
anterior cingulate cortex	UBERON:0009835	90.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.83	gold quality
pituitary gland	UBERON:0000007	89.80	gold quality
temporal lobe	UBERON:0001871	88.98	gold quality
left lobe of thyroid gland	UBERON:0001120	88.14	gold quality
right lobe of thyroid gland	UBERON:0001119	87.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.51	gold quality
forebrain	UBERON:0001890	87.32	gold quality
Ammon’s horn	UBERON:0001954	87.08	gold quality
thyroid gland	UBERON:0002046	86.35	gold quality
cerebral cortex	UBERON:0000956	86.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.18	gold quality
neocortex	UBERON:0001950	86.00	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-30	yes	3604.37
E-HCAD-35	yes	3268.87
E-GEOD-180759	yes	2834.64
E-HCAD-25	yes	2335.79
E-GEOD-84465	yes	1720.46
E-HCAD-5	yes	22.90
E-GEOD-93593	yes	19.13
E-ANND-3	yes	13.60
E-MTAB-8894	no	776.84
E-GEOD-81547	no	4.70
E-CURD-112	no	2.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting ADGRV1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-585-5P	97.54	69.02	955
HSA-MIR-4712-5P	97.24	67.79	775
HSA-MIR-770-5P	97.24	68.10	758
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-362-5P	95.87	66.02	554
HSA-MIR-500B-5P	95.87	66.04	557

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 27)

• has seven copies of the EPTP repeat, a unifying protein sequence motif of a heterogenous group of proteins linked to epileptic diseases. The EPTP repeat probably forms a beta-propeller structure. (PMID:12217514)
• A nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. (PMID:12402266)
• USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. (PMID:15671307)
• Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (PMID:18463160)
• GPR98 genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. (PMID:18854872)
• study describes for the first time two male patients with Usher syndrome type 2 with novel GPR98 mutations (PMID:19357117)
• 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)
• genetic association studies in postmenopausal Japanese women: Study found association between an SNP in GPR98 (rs10514346) and bone mineral density in this population; data suggest that Gpr98 signaling pathway regulates bone metabolism. (PMID:22419726)
• In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found. (PMID:23441107)
• identified an independent Galphai signaling pathway of the VLGR1 beta-subunit and its regulatory mechanisms that may have a role in the development of Usher syndrome (PMID:24962568)
• our results suggest that low expression of VLGR1 is a significant risk factor of epileptic seizures in patients with low-grade glioma (PMID:25511798)
• Our findings also expand the spectrum of GPR98 mutations in USH and demonstrate that the long isoform of GPR98 might carry even more mutations of the GPR98 gene. (PMID:25572244)
• Diagnosis of Usher Syndrome 2 caused by GPR98 mutations in advance of visual defects in the cohort of nonsyndromic HL patients highlights importane of genetic testing in the diagnosis. (PMID:25743181)
• We identified two novel truncation mutations in GPR98 causing Usher syndrome. (PMID:26432996)
• 7 patients clinically classified as having USH2, genetic tests confirmed the USH2 diagnosis in 5 cases. Of these, 4 patients showed mutations in the USH2A gene and 1 patient in the ADGRV1 gene. The mutation of the ADGRV1/GPR98 gene has an extremely rare incidence and is associated with a diagnosis of USH type 2C. (PMID:28653555)
• we found new causative mutations in heterozygous compound state, one missense and one nonsense mutation in the GPR98 gene in three deaf sibs. The first mutation located in exon7, corresponds to c.1054C > A, which causes a proline to threonine change at position 352 of the protein (p.Pro352Thr). The second mutation located within exon77 is c.16544delT that leads to a stop codon at position 5515of the protein (p.Leu5515*). (PMID:28951997)
• Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations (PMID:29142287)
• Data suggest that the ADGRV1 variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV1 haploinsufficiency likely contributes to seizure development. (PMID:29266188)
• The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients. (PMID:29883260)
• GPR98 missense mutation is associated with usher syndrome type IIC. (PMID:29890953)
• Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. (PMID:31792237)
• Biallelic ADGRV1 variants are associated with Rolandic epilepsy. (PMID:34160719)
• Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. (PMID:34638692)
• Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1. (PMID:35630584)
• Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children. (PMID:36399868)
• Monitoring paxillin in astrocytes reveals the significance of the adhesion G protein coupled receptor VLGR1/ADGRV1 for focal adhesion assembly. (PMID:36929698)
• The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy. (PMID:37002809)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	adgrv1	ENSDARG00000021137
mus_musculus	Adgrv1	ENSMUSG00000069170
rattus_norvegicus	Adgrv1	ENSRNOG00000016306

Paralogs (7): SLC8A3 (ENSG00000100678), SLC8A2 (ENSG00000118160), FRAS1 (ENSG00000138759), FREM2 (ENSG00000150893), FREM1 (ENSG00000164946), SLC8A1 (ENSG00000183023), FREM3 (ENSG00000183090)

Protein

Protein identifiers

Adhesion G-protein coupled receptor V1 — Q8WXG9 (reviewed: Q8WXG9)

Alternative names: G-protein coupled receptor 98, Monogenic audiogenic seizure susceptibility protein 1 homolog, Usher syndrome type-2C protein, Very large G-protein coupled receptor 1

All UniProt accessions (15): A0A1W2PNS5, A0A1W2PP32, A0A1W2PPA4, A0A1W2PQK7, A0A1W2PQP9, A0A1W2PQU5, A0A1W2PR51, A0A1W2PR84, A0A1W2PRC7, A0A1W2PRR5, A0A1W2PS08, A0A1W2PS99, A0A1X7SBU6, D6RIF0, Q8WXG9

UniProt curated annotations — full annotation on UniProt →

Function. G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. 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. Involved in the regulation of bone metabolism. Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.

Subunit / interactions. Forms a heterodimer, consisting of a large extracellular region (alpha subunit) non-covalently linked to a seven-transmembrane moiety (beta subunit). Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts with USH2A and WHRN. Interacts (via the cytoplasmic region) with PDZD7. Interacts (via the cytoplasmic region) with MYO7A (via MyTH4-FERM domains).

Subcellular location. Cell membrane. Cell projection. Stereocilium membrane. Photoreceptor inner segment.

Tissue specificity. Expressed at low levels in adult tissues.

Post-translational modifications. Autoproteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit.

Disease relevance. Usher syndrome 2C (USH2C) [MIM:605472] 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. Febrile seizures, familial, 4 (FEB4) [MIM:604352] Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. The 7 transmembrane domain is required in hair cells for the hair bundle ankle formation.

Miscellaneous. By far is the largest known cell surface protein. May be due to intron retention. Dubious isoform produced through aberrant splice sites. May be due to intron retention.

Similarity. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WXG9-1	1, VLGR1b	yes
Q8WXG9-2	2, VLGR1a
Q8WXG9-3	3, VLGR1c
Q8WXG9-4	4

RefSeq proteins (1): NP_115495* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000832	GPCR_2_secretin-like	Family
IPR003644	Calx_beta	Domain
IPR005492	EPTP	Repeat
IPR009039	EAR	Repeat
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR017981	GPCR_2-like_7TM	Domain
IPR026919	ADGRV1	Family
IPR038081	CalX-like_sf	Homologous_superfamily
IPR046338	GAIN_dom_sf	Homologous_superfamily
IPR057244	GAIN_B	Domain

Pfam: PF00002, PF03160, PF03736, PF13385

UniProt features (121 total): domain 36, sequence variant 29, sequence conflict 19, topological domain 8, transmembrane region 7, repeat 6, splice variant 6, chain 3, region of interest 2, disulfide bond 2, signal peptide 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q8WXG9 — 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.

Catalytic / active sites (1): 5890–5891 (cleavage; by autolysis)

Disulfide bonds (2): 5856–5885, 5873–5887

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9619665	EGR2 and SOX10-mediated initiation of Schwann cell myelination
R-HSA-1266738	Developmental Biology
R-HSA-9675108	Nervous system development

MSigDB gene sets: 277 (showing top): GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_DETECTION_OF_MECHANICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_RESPONSE_TO_METAL_ION, GOBP_CELL_CELL_ADHESION, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, GOBP_EAR_DEVELOPMENT, GOBP_BONE_MINERALIZATION, GOBP_PHOTORECEPTOR_CELL_MAINTENANCE, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_OSSIFICATION

GO Biological Process (25): cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), nervous system development (GO:0007399), visual perception (GO:0007601), sensory perception of sound (GO:0007605), positive regulation of bone mineralization (GO:0030501), regulation of protein stability (GO:0031647), establishment of protein localization (GO:0045184), photoreceptor cell maintenance (GO:0045494), maintenance of animal organ identity (GO:0048496), inner ear development (GO:0048839), nervous system process (GO:0050877), detection of mechanical stimulus involved in sensory perception of sound (GO:0050910), sensory perception of light stimulus (GO:0050953), inner ear receptor cell differentiation (GO:0060113), inner ear receptor cell stereocilium organization (GO:0060122), cellular response to calcium ion (GO:0071277), self proteolysis (GO:0097264), cell-cell adhesion (GO:0098609), cell communication (GO:0007154), signal transduction (GO:0007165), negative regulation of adenylate cyclase activity (GO:0007194), obsolete positive regulation of protein kinase A signaling (GO:0010739), animal organ development (GO:0048513), regulation of developmental process (GO:0050793)

GO Molecular Function (7): G-protein alpha-subunit binding (GO:0001965), G protein-coupled receptor activity (GO:0004930), calcium ion binding (GO:0005509), adenylate cyclase inhibitor activity (GO:0010855), hydrolase activity (GO:0016787), transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (15): photoreceptor inner segment (GO:0001917), stereocilia ankle link (GO:0002141), stereocilia ankle link complex (GO:0002142), cytoplasm (GO:0005737), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), stereocilium (GO:0032420), signaling receptor complex (GO:0043235), stereocilium membrane (GO:0060171), extracellular exosome (GO:0070062), periciliary membrane compartment (GO:1990075), USH2 complex (GO:1990696), protein-containing complex (GO:0032991), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
protein-containing complex	3
signal transduction	2
G protein-coupled receptor activity	1
system development	1
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
bone mineralization	1
regulation of bone mineralization	1
positive regulation of ossification	1
positive regulation of biomineral tissue development	1
regulation of biological quality	1
establishment of localization	1
retina homeostasis	1
multicellular organismal process	1
negative regulation of cell differentiation	1
animal organ development	1
ear development	1
anatomical structure development	1
system process	1
sensory perception of sound	1
nervous system process	1
detection of mechanical stimulus involved in sensory perception	1
sensory perception	1
mechanoreceptor differentiation	1
inner ear development	1
neuron projection development	1
inner ear receptor cell development	1
response to calcium ion	1
cellular response to metal ion	1
proteolysis	1
cell adhesion	1
cellular process	1
protein binding	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
metal ion binding	1
adenylate cyclase activity	1
cyclase inhibitor activity	1
adenylate cyclase regulator activity	1

Protein interactions and networks

STRING

1514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADGRV1	WHRN	Q9P202	999
ADGRV1	USH2A	O75445	989
ADGRV1	PDZD7	Q9H5P4	987
ADGRV1	E9PNW1	E9PNW1	974
ADGRV1	CDH23	Q9H251	970
ADGRV1	USH1G	Q495M9	964
ADGRV1	MYO7A	P78427	940
ADGRV1	PCDH15	Q96QU1	929
ADGRV1	CLRN1	P58418	866
ADGRV1	MYO15A	Q9UKN7	824
ADGRV1	SLC4A7	Q9Y6M7	788
ADGRV1	LGI1	O95970	774
ADGRV1	CIB2	O75838	741
ADGRV1	SLC4A8	Q2Y0W8	737
ADGRV1	TMC1	Q8TDI8	688

IntAct

68 interactions, top by confidence:

A	B	Type	Score
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
GPHA2	PLXNA2	psi-mi:“MI:0914”(association)	0.530
XAGE1A	THAP12	psi-mi:“MI:0914”(association)	0.530
PRSS37	MANBA	psi-mi:“MI:0914”(association)	0.530
SERPINA12	TSPAN6	psi-mi:“MI:0914”(association)	0.530
PDGFB	DKC1	psi-mi:“MI:0914”(association)	0.530
SCGB1D4	EGFR	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
CMA1	MANBA	psi-mi:“MI:0914”(association)	0.530
DNAJC3	DEDD	psi-mi:“MI:0914”(association)	0.530
CALR3	UBR5	psi-mi:“MI:0914”(association)	0.530
DNASE2B	ARSA	psi-mi:“MI:0914”(association)	0.530
IFNE	FAT1	psi-mi:“MI:0914”(association)	0.530
PDZD7	ADGRV1	psi-mi:“MI:0915”(physical association)	0.510
DKKL1	VWA8	psi-mi:“MI:0914”(association)	0.350
SLAMF1	RTCA	psi-mi:“MI:0914”(association)	0.350
IFNE	NAGLU	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	NRP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GPR98 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4GGP7, B1Q236, B8V7Q1, B8VIW9, F1QSQ0, F8W3X3, G5EDK5, H2A0L8, O02466, O15943, O44386, O44730, P28827, P34616, P35822, P55289, P70408, Q02763, Q02858, Q03600, Q03763, Q06807, Q09165, Q15262, Q19319, Q24247, Q24298, Q5RJH3, Q60ZN5, Q61495, Q68SP4, Q6W3B0, Q7TMD7, Q7TSF0, Q7TSF1, Q86SJ6, Q86WI1, Q8JHW2, Q8VHN7, Q8WXG9

Diamond homologs: A2A863, A5Z1X6, B0FYY4, G5EF96, O54890, O70309, P05106, P05107, P05556, P07228, P09055, P11584, P11835, P12606, P12607, P16144, P18084, P18563, P18564, P26010, P26011, P32592, P49134, P53712, P53713, P53714, P80747, Q06805, Q06806, Q07409, Q07441, Q09062, Q1RPR6, Q27874, Q2VJ42, Q3UH53, Q5RCA9, Q5VI41, Q62682, Q62845

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ADGRV1	“form complex”	“USH2 complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

7213 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	496
Likely pathogenic	172
Uncertain significance	2035
Likely benign	3145
Benign	405

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012516	NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs)	Pathogenic
1066778	NC_000005.9:g.(?90144434)(90159694_?)dup	Pathogenic
1069105	NM_032119.4(ADGRV1):c.10457G>A (p.Trp3486Ter)	Pathogenic
1069930	NM_032119.4(ADGRV1):c.7434del (p.Phe2479fs)	Pathogenic
1069983	NM_032119.4(ADGRV1):c.3141_3142del (p.Asp1051fs)	Pathogenic
1069984	NM_032119.4(ADGRV1):c.4713_4716dup (p.Gly1573fs)	Pathogenic
1070127	NM_032119.4(ADGRV1):c.18069del (p.Phe6023fs)	Pathogenic
1070882	NM_032119.4(ADGRV1):c.2707G>T (p.Glu903Ter)	Pathogenic
1070965	NM_032119.4(ADGRV1):c.9171del (p.Asn3059fs)	Pathogenic
1071098	NM_032119.4(ADGRV1):c.1086dup (p.Leu363fs)	Pathogenic
1071101	NM_032119.4(ADGRV1):c.18023_18026del (p.Arg6008fs)	Pathogenic
1071608	NM_032119.4(ADGRV1):c.13913del (p.Pro4638fs)	Pathogenic
1072701	NC_000005.9:g.(?90015865)(90016040_?)del	Pathogenic
1072913	NM_032119.4(ADGRV1):c.3621del (p.Leu1207_Val1208insTer)	Pathogenic
1073142	NM_032119.4(ADGRV1):c.3430C>T (p.Arg1144Ter)	Pathogenic
1073725	NM_032119.4(ADGRV1):c.4271_4272dup (p.Leu1425fs)	Pathogenic
1073798	NM_032119.4(ADGRV1):c.7801C>T (p.Gln2601Ter)	Pathogenic
1074372	NM_032119.4(ADGRV1):c.13391del (p.Asn4464fs)	Pathogenic
1074508	NM_032119.4(ADGRV1):c.776dup (p.Asn259fs)	Pathogenic
1075638	NM_032119.4(ADGRV1):c.2612del (p.Gly871fs)	Pathogenic
1075639	NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter)	Pathogenic
1076016	NM_032119.4(ADGRV1):c.13992dup (p.Leu4665fs)	Pathogenic
1076304	NM_032119.4(ADGRV1):c.15126_15128del (p.Tyr5042_Gln5043delinsTer)	Pathogenic
1076602	NM_032119.4(ADGRV1):c.8167del (p.Gln2723fs)	Pathogenic
1185591	NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)	Pathogenic
1212799	NM_032119.4(ADGRV1):c.3592G>T (p.Glu1198Ter)	Pathogenic
1217226	NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)	Pathogenic
1353026	NM_032119.4(ADGRV1):c.9809G>A (p.Trp3270Ter)	Pathogenic
1354575	NM_032119.4(ADGRV1):c.16624del (p.Ala5542fs)	Pathogenic
1358445	NM_032119.4(ADGRV1):c.17164_17168del (p.Ser5722fs)	Pathogenic

SpliceAI

17277 predictions. Top by Δscore:

Variant	Effect	Δscore
5:90614831:TTAG:T	acceptor_loss	1.0000
5:90614832:TAGGG:T	acceptor_loss	1.0000
5:90614833:A:AG	acceptor_gain	1.0000
5:90614833:AG:A	acceptor_gain	1.0000
5:90614833:AGG:A	acceptor_gain	1.0000
5:90614834:G:A	acceptor_loss	1.0000
5:90614834:G:GG	acceptor_gain	1.0000
5:90614834:GG:G	acceptor_gain	1.0000
5:90614834:GGG:G	acceptor_gain	1.0000
5:90614834:GGGAT:G	acceptor_gain	1.0000
5:90615015:TATCG:T	donor_gain	1.0000
5:90615016:ATCGG:A	donor_loss	1.0000
5:90615017:TCGG:T	donor_loss	1.0000
5:90615018:CGGT:C	donor_loss	1.0000
5:90615020:G:GG	donor_gain	1.0000
5:90615021:T:A	donor_loss	1.0000
5:90617795:A:AG	acceptor_gain	1.0000
5:90617795:ATTT:A	acceptor_gain	1.0000
5:90617796:T:G	acceptor_gain	1.0000
5:90617798:T:TA	acceptor_gain	1.0000
5:90617799:GATA:G	acceptor_loss	1.0000
5:90617801:TAGCT:T	acceptor_loss	1.0000
5:90617802:A:AG	acceptor_gain	1.0000
5:90617803:G:GG	acceptor_gain	1.0000
5:90617803:GCT:G	acceptor_gain	1.0000
5:90617803:GCTGT:G	acceptor_gain	1.0000
5:90617952:AGGTA:A	donor_loss	1.0000
5:90617953:GGT:G	donor_loss	1.0000
5:90617954:G:GC	donor_loss	1.0000
5:90617955:T:A	donor_loss	1.0000

AlphaMissense

41455 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:90672573:T:C	C1594R	0.996
5:90690869:G:C	R2260P	0.996
5:90628586:A:C	R421S	0.995
5:90628586:A:T	R421S	0.995
5:90690904:T:A	W2272R	0.995
5:90690904:T:C	W2272R	0.995
5:90711046:T:A	W2964R	0.995
5:90711046:T:C	W2964R	0.995
5:90628620:T:A	W433R	0.993
5:90628620:T:C	W433R	0.993
5:90622662:G:C	R173S	0.992
5:90622662:G:T	R173S	0.992
5:90628585:G:C	R421T	0.992
5:90637744:G:C	R679P	0.992
5:90658267:T:C	C1581R	0.992
5:90672587:A:C	R1598S	0.992
5:90672587:A:T	R1598S	0.992
5:90683628:T:A	W1903R	0.992
5:90683628:T:C	W1903R	0.992
5:90721026:T:A	W3239R	0.992
5:90721026:T:C	W3239R	0.992
5:90750650:T:A	W3692R	0.992
5:90750650:T:C	W3692R	0.992
5:90637776:T:A	W690R	0.991
5:90637776:T:C	W690R	0.991
5:90653427:T:A	W1285R	0.991
5:90653427:T:C	W1285R	0.991
5:90658256:T:C	F1577S	0.991
5:90672580:T:A	V1596D	0.991
5:90675255:T:C	F1708S	0.991

dbSNP variants (sampled 300 via entrez): RS1000012248 (5:90744132 G>A), RS1000016215 (5:90822605 G>A), RS1000020632 (5:90986118 A>G), RS1000028440 (5:90603099 G>A), RS1000030390 (5:90980453 A>G), RS1000031102 (5:90946828 T>C), RS1000034154 (5:91000690 G>T), RS1000043081 (5:90682259 G>A), RS1000051458 (5:90906087 C>G,T), RS1000052420 (5:90724184 T>C), RS1000058229 (5:90795109 T>C), RS1000058305 (5:90939650 A>G), RS1000066009 (5:90888213 A>C,G,T), RS1000075765 (5:90681938 C>G,T), RS1000077858 (5:90572808 G>A)

Disease associations

OMIM: gene MIM:602851 | disease phenotypes: MIM:605472, MIM:604352, MIM:248510, MIM:128600, MIM:276900, MIM:268000, MIM:600669, MIM:121210, MIM:613443, MIM:156000, MIM:123100, MIM:108010, MIM:220290, MIM:607197, MIM:276901

GenCC curated gene-disease

Disease	Classification	Inheritance
Usher syndrome type 2	Definitive	Autosomal recessive
Usher syndrome type 2C	Strong	Autosomal recessive
febrile seizures, familial, 4	Moderate	Autosomal dominant
nonsyndromic genetic hearing loss	Disputed Evidence	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Disputed	AR
Usher syndrome type 2	Definitive	AR

Mondo (23): hearing loss disorder (MONDO:0005365), Usher syndrome type 2C (MONDO:0011558), febrile seizures, familial, 4 (MONDO:0011443), Usher syndrome type 2 (MONDO:0016484), inherited retinal dystrophy (MONDO:0019118), beta-mannosidosis (MONDO:0009562), ear malformation (MONDO:0007500), Usher syndrome (MONDO:0019501), retinitis pigmentosa (MONDO:0019200), idiopathic generalized epilepsy (MONDO:0005579), febrile seizures, familial, 1 (MONDO:0007367), Usher syndrome type 1 (MONDO:0010168), neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (MONDO:0013266), vascular disorder (MONDO:0005385), Meniere disease (MONDO:0007972)

Orphanet (15): Usher syndrome type 2 (Orphanet:231178), Usher syndrome (Orphanet:886), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Beta-mannosidosis (Orphanet:118), Retinitis pigmentosa (Orphanet:791), Rare genetic deafness (Orphanet:96210), Usher syndrome type 1 (Orphanet:231169), 5q14.3 microdeletion syndrome (Orphanet:228384), Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome (Orphanet:664410), Craniosynostosis (Orphanet:1531), Brain arteriovenous malformation (Orphanet:46724), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), NON RARE IN EUROPE: Menière disease (Orphanet:45360), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000359	Abnormality of the inner ear
HP:0000407	Sensorineural hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000545	Myopia
HP:0000551	Color vision defect
HP:0000572	Visual loss
HP:0000575	Scotoma
HP:0000662	Nyctalopia
HP:0000716	Depression
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0001133	Constriction of peripheral visual field
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001337	Tremor
HP:0001751	Abnormal vestibular function
HP:0001763	Pes planus
HP:0002067	Bradykinesia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002121	Generalized non-motor (absence) seizure
HP:0002123	Generalized myoclonic seizure
HP:0002133	Status epilepticus
HP:0002141	Gait imbalance
HP:0002197	Generalized-onset seizure
HP:0002311	Incoordination
HP:0002360	Sleep disturbance

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST000101_15	Hip geometry	2.000000e-07
GCST000618_13	Response to antipsychotic treatment	3.000000e-08
GCST001762_162	Obesity-related traits	9.000000e-06
GCST003263_41	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST003263_42	Post bronchodilator FEV1 in COPD	4.000000e-06
GCST004746_33	Small cell lung carcinoma	3.000000e-07
GCST004946_156	Schizophrenia	3.000000e-08
GCST005023_13	Initial pursuit acceleration	9.000000e-06
GCST006040_1	Atopy	7.000000e-09
GCST006988_45	Blond vs. brown/black hair color	3.000000e-48
GCST007119_2	Cervical cancer	2.000000e-11
GCST007201_441	Schizophrenia	5.000000e-07
GCST007201_456	Schizophrenia	6.000000e-06
GCST007638_32	Glycine levels	4.000000e-08
GCST007656_17	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	2.000000e-11
GCST007978_4	Postoperative atrial fibrillation after cardiac surgery	2.000000e-06
GCST008062_109	Blood urea nitrogen levels	8.000000e-09
GCST008153_76	Lean body mass	3.000000e-06
GCST009377_5	Bone mineral density	7.000000e-06
GCST009378_15	Bone mineral content	5.000000e-06
GCST010173_149	Triglyceride levels	9.000000e-09
GCST010244_302	Triglyceride levels	4.000000e-12
GCST012008_10	Lateral thalamic nuclei volume	4.000000e-14
GCST90000025_47	Appendicular lean mass	4.000000e-09
GCST90002400_645	Plateletcrit	9.000000e-15
GCST90002402_778	Platelet count	6.000000e-12
GCST90020028_1100	Hip circumference adjusted for BMI	1.000000e-08
GCST90020028_1101	Hip circumference adjusted for BMI	9.000000e-10
GCST90020028_1102	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0004685	hip geometry
EFO:0004338	body weight
EFO:0004314	forced expiratory volume
EFO:0008434	initial pursuit acceleration
EFO:0003924	hair color
EFO:0009767	glycine measurement
EFO:0009951	response to surgery
EFO:0009952	post-operative atrial fibrillation
EFO:0004995	lean body mass
EFO:0007620	volumetric bone mineral density
EFO:0007621	bone mineral content measurement
EFO:0004530	triglyceride measurement
EFO:0006935	thalamus volume
EFO:0004980	appendicular lean mass
EFO:0007985	platelet crit
EFO:0004309	platelet count
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (19)

Descriptor	Name	Tree numbers
D003398	Craniosynostoses	C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D002538	Intracranial Arteriovenous Malformations	C10.228.140.300.520; C10.500.190.500; C14.240.850.750.295; C14.240.850.875.500; C14.907.150.295; C14.907.253.560.400; C16.131.240.850.750.295; C16.131.240.850.875.500; C16.131.666.190.500
D008575	Meniere Disease	C09.218.568.217.500
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
D014652	Vascular Diseases	C14.907
D044905	beta-Mannosidosis	C16.320.565.202.607.750; C16.320.565.595.577.750; C18.452.648.202.607.750; C18.452.648.595.577.750
C564609	Deafness, Autosomal Recessive (supp.)
C562694	Epilepsy, Idiopathic Generalized (supp.)
C565162	Febrile Convulsions, Familial, 1 (supp.)
C565788	Febrile Convulsions, Familial, 4 (supp.)
C580334	Nonsyndromic Deafness (supp.)
C536490	Usher syndrome, type 2A (supp.)
C536492	Usher syndrome, type 2C (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2366929	Toxicity	3	opioids	Opioid-Related Disorders

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2366929	ADGRV1	3	0.00	1	opioids

GtoPdb / IUPHAR curated pharmacology

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

Target class: gpcr — Adhesion Class GPCRs

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, decreases methylation	6
Benzo(a)pyrene	affects methylation, decreases expression, increases mutagenesis	5
methylmercuric chloride	decreases expression, increases expression, affects cotreatment	4
sodium arsenite	affects expression, increases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Aflatoxin B1	decreases expression, decreases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
quercitrin	increases expression	1
arsenite	affects binding, decreases reaction	1
benzo(e)pyrene	affects methylation, increases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	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	affects cotreatment, decreases expression	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	increases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Calcitriol	increases expression	1
Carbamazepine	affects expression	1
Doxorubicin	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_AZ38	GM24589	Finite cell line	Female
CVCL_AZ39	GM24590	Finite cell line	Male
CVCL_AZ40	GM24591	Finite cell line	Female

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
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT05158296	PHASE2/PHASE3	TERMINATED	Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
NCT05176717	PHASE2/PHASE3	TERMINATED	Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
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
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations
NCT00486577	PHASE2/PHASE3	COMPLETED	Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus
NCT00789061	PHASE2/PHASE3	UNKNOWN	Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
NCT01423409	PHASE2/PHASE3	COMPLETED	Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People