CCDC50

Summary

CCDC50 (coiled-coil domain containing 50, HGNC:18111) is a protein-coding gene on chromosome 3q28, encoding Coiled-coil domain-containing protein 50 (Q8IVM0). Involved in EGFR signaling.

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 152137 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant nonsyndromic hearing loss (Supportive, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 347 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 6
• MANE Select transcript: NM_178335

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18111
Approved symbol	CCDC50
Name	coiled-coil domain containing 50
Location	3q28
Locus type	gene with protein product
Status	Approved
Aliases	Ymer
Ensembl gene	ENSG00000152492
Ensembl biotype	protein_coding
OMIM	611051
Entrez	152137

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron

ENST00000392455, ENST00000392456, ENST00000460064, ENST00000899243, ENST00000899244, ENST00000899245, ENST00000899246, ENST00000951802, ENST00000951803, ENST00000951804

RefSeq mRNA: 2 — MANE Select: NM_178335 NM_174908, NM_178335

CCDS: CCDS33912, CCDS33913

Canonical transcript exons

ENST00000392455 — 12 exons

Exon	Start	End
ENSE00001005499	191380159	191380274
ENSE00001005512	191380828	191380932
ENSE00001073638	191369919	191370036
ENSE00001073642	191357998	191358124
ENSE00001150036	191357088	191357150
ENSE00001176977	191361069	191361159
ENSE00001217082	191380687	191380731
ENSE00001304410	191389496	191389602
ENSE00001320147	191382746	191382825
ENSE00001334610	191375062	191375589
ENSE00001552245	191391741	191398659
ENSE00001922047	191329394	191329723

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.9773 / max 914.9157, expressed in 1801 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40580	22.9036	1792
40581	5.7059	1516
40577	5.6051	1599
40578	5.1977	1480
40585	1.4704	1062
40576	0.7705	344
40579	0.6781	376
40584	0.1911	68
40582	0.1882	77
40583	0.1427	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	97.32	gold quality
ileal mucosa	UBERON:0000331	96.86	gold quality
calcaneal tendon	UBERON:0003701	96.85	gold quality
upper arm skin	UBERON:0004263	95.36	gold quality
smooth muscle tissue	UBERON:0001135	95.27	gold quality
kidney epithelium	UBERON:0004819	94.95	gold quality
tibialis anterior	UBERON:0001385	94.79	silver quality
cardiac muscle of right atrium	UBERON:0003379	94.59	gold quality
sperm	CL:0000019	94.54	gold quality
adipose tissue	UBERON:0001013	94.28	gold quality
left ventricle myocardium	UBERON:0006566	94.27	gold quality
tendon	UBERON:0000043	94.24	gold quality
cortical plate	UBERON:0005343	94.14	gold quality
epithelial cell of pancreas	CL:0000083	94.09	gold quality
myocardium	UBERON:0002349	94.03	gold quality
ganglionic eminence	UBERON:0004023	93.97	gold quality
gall bladder	UBERON:0002110	93.96	gold quality
right uterine tube	UBERON:0001302	93.82	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.80	gold quality
adipose tissue of abdominal region	UBERON:0007808	93.79	gold quality
omental fat pad	UBERON:0010414	93.68	gold quality
peritoneum	UBERON:0002358	93.66	gold quality
lymph node	UBERON:0000029	93.24	gold quality
cartilage tissue	UBERON:0002418	93.14	gold quality
saphenous vein	UBERON:0007318	93.11	gold quality
pericardium	UBERON:0002407	92.90	gold quality
parietal pleura	UBERON:0002400	92.82	gold quality
synovial joint	UBERON:0002217	92.81	gold quality
popliteal artery	UBERON:0002250	92.67	gold quality
tibial artery	UBERON:0007610	92.67	gold quality

Single-cell (SCXA)

Detected in 25 experiment(s), a significant marker in 24.

Experiment	Marker?	Max mean expression
E-GEOD-150728	yes	1481.57
E-MTAB-8530	yes	1250.26
E-MTAB-10042	yes	1153.30
E-CURD-79	yes	1137.75
E-MTAB-9221	yes	1080.31
E-CURD-112	yes	1041.21
E-MTAB-9067	yes	1010.49
E-MTAB-9801	yes	934.77
E-MTAB-10432	yes	902.79
E-HCAD-6	yes	617.27
E-ANND-5	yes	592.37
E-HCAD-32	yes	486.58
E-HCAD-4	yes	70.27
E-HCAD-35	yes	49.16
E-GEOD-84465	yes	24.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

294 targeting CCDC50, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-520D-5P	99.98	73.34	4883

Literature-anchored findings (GeneRIF, showing 11)

• identification of a novel DFNA locus on chromosome 3q28-29 in a Spanish family with postlingual and progressive hearing loss[DFNA44] (PMID:12483295)
• Ymer functions as a novel inhibitor for the down-regulation of the EGF receptor and plays a crucial role for regulating the amount of the EGF receptor on the cell surface membrane (PMID:16803894)
• These findings demonstrate that Ymer is likely to be a negative regulator for the NF-kappaB signaling pathway. (PMID:19059208)
• CCDC50 is required for survival in mantle cell lymphoma and chronic lymphocytic leukemia cells and controls NFkappaB signaling (PMID:19641524)
• Ymer acts as a regulator downstream of several receptors and that Ymer functions as a positive or negative regulator in a signaling pathway-dependent manner. (PMID:22331027)
• Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] (PMID:27142990)
• A novel selective autophagy receptor, CCDC50, delivers K63 polyubiquitination-activated RIG-I/MDA5 for degradation during viral infection. (PMID:32612200)
• Coiled-coil domain containing 50-V2 protein positively regulates neurite outgrowth. (PMID:33277610)
• Autophagy receptor CCDC50 tunes the STING-mediated interferon response in viral infections and autoimmune diseases. (PMID:34453126)
• CCDC50 promotes tumor growth through regulation of lysosome homeostasis. (PMID:37672005)
• Molecular profiling of clinical remission in psoriatic arthritis reveals dysregulation of FOS and CCDC50 genes: a gene expression study. (PMID:37965313)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc50a	ENSDARG00000105136
mus_musculus	Ccdc50	ENSMUSG00000038127
rattus_norvegicus	Ccdc50	ENSRNOG00000001930
drosophila_melanogaster	CG10283	FBGN0032681
caenorhabditis_elegans		WBGENE00019998

Protein

Protein identifiers

Coiled-coil domain-containing protein 50 — Q8IVM0 (reviewed: Q8IVM0)

Alternative names: Protein Ymer

All UniProt accessions (1): Q8IVM0

UniProt curated annotations — full annotation on UniProt →

Function. Involved in EGFR signaling.

Subunit / interactions. Interacts with RNF126.

Subcellular location. Cytoplasm.

Tissue specificity. Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart.

Post-translational modifications. Phosphorylated on tyrosine residues.

Disease relevance. Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453] A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families. Major isoform.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IVM0-1	1, Short	yes
Q8IVM0-2	2, Long

RefSeq proteins (2): NP_777568, NP_848018* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029311	CCDC50_N	Domain
IPR039303	CCDC50	Family

Pfam: PF15295

UniProt features (12 total): compositionally biased region 3, sequence variant 2, modified residue 2, initiator methionine 1, chain 1, region of interest 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6LAN	X-RAY DIFFRACTION	1.41

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVM0-F1	75.90	0.47

Functional residue map

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

Post-translational modifications (2): 2, 5

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 163 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, AP1_01, BENPORATH_ES_WITH_H3K27ME3, GAANYNYGACNY_UNKNOWN, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOLDRATH_ANTIGEN_RESPONSE, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, TGANTCA_AP1_C, TGACATY_UNKNOWN, HNF1_C, GOBP_SENSORY_PERCEPTION, BASAKI_YBX1_TARGETS_DN, AP1FJ_Q2, PASQUALUCCI_LYMPHOMA_BY_GC_STAGE_DN

GO Biological Process (1): sensory perception of sound (GO:0007605)

GO Molecular Function (2): ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), ciliary basal body (GO:0036064)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
sensory perception of mechanical stimulus	1
ubiquitin-like protein ligase binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
microtubule organizing center	1
cilium	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

53 interactions, top by confidence:

A	B	Type	Score
OTUD7B	CCDC50	psi-mi:“MI:0915”(physical association)	0.630
OTUD7B	CCDC50	psi-mi:“MI:0403”(colocalization)	0.630
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
RNF8	CCDC50	psi-mi:“MI:0915”(physical association)	0.560
CCDC50	SH3GL1	psi-mi:“MI:0915”(physical association)	0.560
CCDC50	ARRDC3	psi-mi:“MI:0915”(physical association)	0.560
HADHA	AGRN	psi-mi:“MI:0914”(association)	0.530
ZNF382	IPO8	psi-mi:“MI:0914”(association)	0.530
FGF9	PPID	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
OIP5	CYTH3	psi-mi:“MI:0914”(association)	0.530
HADHA	GPC4	psi-mi:“MI:0914”(association)	0.530
RIPK1	CCDC50	psi-mi:“MI:0915”(physical association)	0.520
CCDC50	RIPK1	psi-mi:“MI:0915”(physical association)	0.520
UBB	CCDC50	psi-mi:“MI:0915”(physical association)	0.510
TNFAIP3	LRRIQ3	psi-mi:“MI:2364”(proximity)	0.420
CCDC50	GAPDHS	psi-mi:“MI:0915”(physical association)	0.400
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
OTUD7B	UBB	psi-mi:“MI:0914”(association)	0.350
FADD	NUP42	psi-mi:“MI:0914”(association)	0.350
TANK	CNOT1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ARHGAP19	PGRMC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (101): UBC (Reconstituted Complex), CCDC50 (Proximity Label-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), CCDC50 (Reconstituted Complex), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CCDC50 (Proximity Label-MS)

ESM2 similar proteins: A0A088MLT8, A2AQ19, A4FV29, A4IFK9, B3KU38, O14795, O70166, O93388, O95983, P21818, P31395, P50751, P54227, P55821, P63042, P63043, Q09001, Q09002, Q09004, Q09006, Q2KJ58, Q32L68, Q4KUS2, Q4R4N5, Q5F3L9, Q5FVJ5, Q5PSV4, Q5R4C5, Q5R562, Q5R8C6, Q5RAD5, Q62768, Q6GQB5, Q8IVM0, Q8IW50, Q8TBN0, Q8VDV3, Q90987, Q92541, Q93045

Diamond homologs: Q5ZM86, Q810U0, Q810U5, Q8IVM0

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
EGFR	“down-regulates activity”	CCDC50	phosphorylation
LCK	“down-regulates activity”	CCDC50	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 60 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ovarian tumor domain proteases	6	37.1×	6e-06
Regulation of TNFR1 signaling	5	24.9×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of canonical NF-kappaB signal transduction	5	16.5×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	165
Likely benign	86
Benign	63

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1330217	NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)	Pathogenic
3247003	NC_000003.11:g.(?189357602)(192126012_?)del	Pathogenic
151835	GRCh38/hg38 3q28(chr3:191142435-192393271)x1	Likely pathogenic
3572930	NM_178335.3(CCDC50):c.802C>T (p.Gln268Ter)	Likely pathogenic

SpliceAI

2013 predictions. Top by Δscore:

Variant	Effect	Δscore
3:191329719:GGAAG:G	donor_gain	1.0000
3:191329720:G:GT	donor_gain	1.0000
3:191329721:A:T	donor_gain	1.0000
3:191329722:AGGT:A	donor_loss	1.0000
3:191329723:GGTAA:G	donor_loss	1.0000
3:191329724:G:C	donor_loss	1.0000
3:191329725:T:G	donor_loss	1.0000
3:191354321:GAGT:G	donor_gain	1.0000
3:191354324:T:G	donor_gain	1.0000
3:191357077:A:AG	acceptor_gain	1.0000
3:191357078:T:G	acceptor_gain	1.0000
3:191357081:A:AG	acceptor_gain	1.0000
3:191357082:C:G	acceptor_gain	1.0000
3:191357084:CTA:C	acceptor_loss	1.0000
3:191357085:TAGTA:T	acceptor_loss	1.0000
3:191357086:A:AG	acceptor_gain	1.0000
3:191357086:A:AT	acceptor_loss	1.0000
3:191357087:G:A	acceptor_loss	1.0000
3:191357087:G:GT	acceptor_gain	1.0000
3:191357087:GT:G	acceptor_gain	1.0000
3:191357087:GTA:G	acceptor_gain	1.0000
3:191357087:GTAT:G	acceptor_gain	1.0000
3:191357146:AGAGA:A	donor_gain	1.0000
3:191357147:GAGA:G	donor_gain	1.0000
3:191357147:GAGAG:G	donor_gain	1.0000
3:191357148:AGA:A	donor_gain	1.0000
3:191357149:GA:G	donor_gain	1.0000
3:191357149:GAG:G	donor_gain	1.0000
3:191357150:AGT:A	donor_loss	1.0000
3:191357151:G:GG	donor_gain	1.0000

AlphaMissense

3188 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:191357099:T:C	F21L	0.999
3:191357101:T:A	F21L	0.999
3:191357101:T:G	F21L	0.999
3:191357136:T:C	L33P	0.999
3:191357100:T:C	F21S	0.998
3:191357114:G:C	D26H	0.998
3:191357115:A:C	D26A	0.998
3:191357124:T:C	L29P	0.998
3:191358060:G:C	A59P	0.998
3:191358061:C:A	A59D	0.998
3:191358070:T:C	L62P	0.998
3:191357100:T:G	F21C	0.997
3:191357116:C:A	D26E	0.997
3:191357116:C:G	D26E	0.997
3:191357127:C:A	A30D	0.997
3:191357145:A:C	Q36P	0.997
3:191358028:G:C	R48P	0.997
3:191357102:G:C	A22P	0.996
3:191357115:A:T	D26V	0.996
3:191357140:G:C	Q34H	0.996
3:191357140:G:T	Q34H	0.996
3:191358052:T:C	L56P	0.996
3:191380834:G:C	A206P	0.996
3:191380835:C:A	A206D	0.996
3:191380838:G:C	R207P	0.996
3:191380841:T:C	L208P	0.996
3:191358006:C:G	H41D	0.995
3:191358040:T:A	V52D	0.995
3:191361091:G:C	A88P	0.995
3:191361092:C:A	A88D	0.995

dbSNP variants (sampled 300 via entrez): RS1000043072 (3:191349320 G>A), RS1000063999 (3:191387880 T>C), RS1000143281 (3:191339032 C>G,T), RS1000152219 (3:191397901 A>C), RS1000170905 (3:191363880 C>T), RS1000185215 (3:191397619 G>T), RS1000222322 (3:191379598 A>G), RS1000227773 (3:191357507 A>G), RS1000255227 (3:191328910 A>C,G), RS1000310610 (3:191348401 T>C), RS1000329214 (3:191369149 C>T), RS1000356137 (3:191327617 A>C), RS1000486308 (3:191369325 C>T), RS1000587926 (3:191343904 C>G), RS1000598794 (3:191386186 C>G)

Disease associations

OMIM: gene MIM:611051 | disease phenotypes: MIM:607453

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant nonsyndromic hearing loss	Supportive	Autosomal dominant
autosomal dominant nonsyndromic hearing loss 44	Limited	Autosomal dominant
nonsyndromic genetic hearing loss	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Limited	AD

Mondo (4): autosomal dominant nonsyndromic hearing loss 44 (MONDO:0011832), hearing loss disorder (MONDO:0005365), nonsyndromic genetic hearing loss (MONDO:0019497), autosomal dominant nonsyndromic hearing loss (MONDO:0019587)

Orphanet (2): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare non-syndromic genetic deafness (Orphanet:87884)

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000360	Tinnitus
HP:0000407	Sensorineural hearing impairment
HP:0001751	Abnormal vestibular function
HP:0003621	Juvenile onset
HP:0011390	Abnormal inner ear morphology

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001951_1	Alzheimer’s disease biomarkers	5.000000e-09
GCST004747_7	Lung cancer in never smokers	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004760	t-tau measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
C564399	Deafness, Autosomal Dominant 44 (supp.)
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, increases expression, affects cotreatment	5
bisphenol A	decreases expression, decreases methylation, increases expression	3
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
kojic acid	increases expression	1
perfluorooctanoic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases ubiquitination	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

Clinical trials (associated diseases)

301 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
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
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
NCT05786378	PHASE2/PHASE3	UNKNOWN	Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss.
NCT01108601	PHASE1/PHASE2	UNKNOWN	Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity
NCT01621256	PHASE1/PHASE2	COMPLETED	Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss
NCT06370351	PHASE1/PHASE2	RECRUITING	A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
NCT06545175	PHASE1/PHASE2	RECRUITING	Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma
NCT07304024	PHASE1/PHASE2	RECRUITING	A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound