CEACAM16

Summary

CEACAM16 (CEA cell adhesion molecule 16, tectorial membrane component, HGNC:31948) is a protein-coding gene on chromosome 19q13.31-q13.32, encoding Cell adhesion molecule CEACAM16 (Q2WEN9). Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane.

The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss.

Source: NCBI Gene 388551 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Strong, ClinGen) — +4 more curated relationships
• GWAS associations: 22
• Clinical variants (ClinVar): 294 total — 8 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 6
• MANE Select transcript: NM_001039213

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31948
Approved symbol	CEACAM16
Name	CEA cell adhesion molecule 16, tectorial membrane component
Location	19q13.31-q13.32
Locus type	gene with protein product
Status	Approved
Aliases	DFNA4B
Ensembl gene	ENSG00000213892
Ensembl biotype	protein_coding
OMIM	614591
Entrez	388551

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000405314, ENST00000587331

RefSeq mRNA: 1 — MANE Select: NM_001039213 NM_001039213

CCDS: CCDS54278

Canonical transcript exons

ENST00000587331 — 7 exons

Exon	Start	End
ENSE00001526131	44705590	44705868
ENSE00001526132	44704018	44704296
ENSE00001526134	44703349	44703693
ENSE00002705110	44707861	44708187
ENSE00002876161	44701361	44701493
ENSE00002925332	44699151	44699260
ENSE00003841302	44710496	44710718

Expression profiles

Bgee: expression breadth broad, 26 present calls, max score 53.41.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	53.41	gold quality
body of pancreas	UBERON:0001150	51.06	gold quality
mucosa of transverse colon	UBERON:0004991	50.35	gold quality
right adrenal gland cortex	UBERON:0035827	50.12	gold quality
left adrenal gland cortex	UBERON:0035825	48.96	gold quality
liver	UBERON:0002107	48.88	silver quality
left adrenal gland	UBERON:0001234	48.66	gold quality
right lobe of liver	UBERON:0001114	47.46	gold quality
right adrenal gland	UBERON:0001233	47.39	gold quality
adrenal gland	UBERON:0002369	46.12	gold quality
tonsil	UBERON:0002372	45.94	gold quality
pancreas	UBERON:0001264	44.49	gold quality
lower esophagus mucosa	UBERON:0035834	43.41	silver quality
bone marrow cell	CL:0002092	38.24	gold quality
muscle of leg	UBERON:0001383	37.93	gold quality
pituitary gland	UBERON:0000007	37.90	gold quality
transverse colon	UBERON:0001157	37.49	silver quality
gastrocnemius	UBERON:0001388	37.17	gold quality
sural nerve	UBERON:0015488	36.83	gold quality
rectum	UBERON:0001052	36.48	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
esophagus mucosa	UBERON:0002469	36.33	silver quality
apex of heart	UBERON:0002098	36.15	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.60	gold quality
granulocyte	CL:0000094	35.57	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adenohypophysis	UBERON:0002196	35.24	silver quality
gall bladder	UBERON:0002110	34.46	silver quality
mucosa of stomach	UBERON:0001199	33.80	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting CEACAM16, 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-4447	99.85	67.81	2900
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-942-5P	99.41	68.40	1977

Literature-anchored findings (GeneRIF, showing 5)

• data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus (PMID:21368133)
• CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin and influences the physical properties of the tectorial membrane (PMID:22544735)
• Data indicate that a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16) was identified in autosomal dominant nonsyndromic hearing loss family. (PMID:25589040)
• Results confirm that CEACAM6 promoted cell proliferation mediated by cyclin D1/CDK4. (PMID:26497080)
• [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss]. (PMID:33040498)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ceacam16	ENSMUSG00000014686
rattus_norvegicus	Ceacam16	ENSRNOG00000031391

Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Protein

Protein identifiers

Cell adhesion molecule CEACAM16 — Q2WEN9 (reviewed: Q2WEN9)

Alternative names: Carcinoembryonic antigen-like 2, Carcinoembryonic antigen-related cell adhesion molecule 16

All UniProt accessions (1): Q2WEN9

UniProt curated annotations — full annotation on UniProt →

Function. Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane.

Subunit / interactions. Homooligomer; can for homodimers and homotetramers. Interacts with TECTA and TECTB.

Subcellular location. Secreted.

Disease relevance. Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614] 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 recessive, 113 (DFNB113) [MIM:618410] A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. 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.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

RefSeq proteins (1): NP_001034302* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050831	CEA_cell_adhesion	Family

Pfam: PF07686, PF13895, PF13927

UniProt features (11 total): glycosylation site 3, sequence variant 2, domain 2, disulfide bond 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2WEN9-F1	90.50	0.80

Functional residue map

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

Disulfide bonds (2): 153–201, 252–293

Glycosylation sites (3): 36, 216, 394

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, GOCC_STEREOCILIUM_BUNDLE, GOCC_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS, GOCC_ACTIN_BASED_CELL_PROJECTION, PEDRIOLI_MIR31_TARGETS_UP, GOCC_STEREOCILIUM_TIP, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_12H_UP, SUPT16H_TARGET_GENES, HP_VISUAL_IMPAIRMENT, HP_ABNORMAL_VESTIBULAR_FUNCTION, HP_JUVENILE_ONSET, HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR, HP_ABNORMALITY_OF_VISION

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

GO Molecular Function (1): identical protein binding (GO:0042802)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), stereocilium tip (GO:0032426), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
sensory perception of mechanical stimulus	1
protein binding	1
stereocilium	1

Protein interactions and networks

STRING

1008 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEACAM16	TECTA	O75443	902
CEACAM16	TECTB	Q96PL2	858
CEACAM16	OTOG	Q6ZRI0	753
CEACAM16	OTOGL	Q3ZCN5	742
CEACAM16	STRC	Q7RTU9	625
CEACAM16	TSPEAR	Q8WU66	614
CEACAM16	TPRN	Q4KMQ1	611
CEACAM16	SMPX	Q9UHP9	602
CEACAM16	MYH14	Q7Z406	585
CEACAM16	LOXHD1	Q8IVV2	530
CEACAM16	OTOA	Q7RTW8	510
CEACAM16	GPSM2	P81274	507
CEACAM16	GRXCR1	A8MXD5	497
CEACAM16	CDH23	Q9H251	491
CEACAM16	SLC26A5	P58743	487

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CEACAM16	SBNO1	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): USO1 (Affinity Capture-MS), EEA1 (Affinity Capture-MS), ODF2 (Affinity Capture-MS), OXSR1 (Affinity Capture-MS), SNX5 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), CBL (Affinity Capture-MS), GCA (Affinity Capture-MS), PSMG2 (Affinity Capture-MS), KIAA1468 (Affinity Capture-MS), DST (Affinity Capture-MS), MPP1 (Affinity Capture-MS), NSD1 (Affinity Capture-MS)

ESM2 similar proteins: A6NMB1, D3ZQE1, E9QA28, G1T7E7, G1TR84, O75054, O75144, P05362, P07722, P09564, P11364, P15151, P16573, P20916, P20917, P32506, P32942, P33729, Q08ET2, Q1WIM1, Q1WIM3, Q28110, Q28125, Q28730, Q28806, Q2WEN9, Q5DRQ8, Q5NKU6, Q5NKV4, Q5NKV6, Q5NKV9, Q5R996, Q60625, Q64JA4, Q6BAA4, Q7TSU7, Q8N126, Q8NFZ8, Q8R464, Q8VBT3

Diamond homologs: A0A0B4J1L0, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q13046, Q14002, Q15238, Q16557, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q810J1, Q925P2, Q9D2Z1, Q9UQ72, Q9UQ74, A1L1A6, B2RTN2, Q0E9H9, Q6UY09, A8MTB9, A0A140LHF2, Q8BFR2, Q8N475, Q9PWR4, P35329

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	6
Uncertain significance	155
Likely benign	61
Benign	26

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1185559	NM_001039213.4(CEACAM16):c.763A>G (p.Arg255Gly)	Pathogenic
2138305	NM_001039213.4(CEACAM16):c.859del (p.Gln287fs)	Pathogenic
235136	NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg)	Pathogenic
2856290	NM_001039213.4(CEACAM16):c.727_730dup (p.Phe244Ter)	Pathogenic
31238	NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro)	Pathogenic
3340146	NM_001039213.4(CEACAM16):c.436C>T (p.Arg146Ter)	Pathogenic
3717767	NM_001039213.4(CEACAM16):c.325C>T (p.Gln109Ter)	Pathogenic
626322	NM_001039213.4(CEACAM16):c.662-1G>C	Pathogenic
1180770	NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter)	Likely pathogenic
228513	NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala)	Likely pathogenic
3765552	NM_001039213.4(CEACAM16):c.703dup (p.Arg235fs)	Likely pathogenic
3779505	NM_001039213.4(CEACAM16):c.1203C>A (p.Tyr401Ter)	Likely pathogenic
4077182	NM_001039213.4(CEACAM16):c.380A>G (p.His127Arg)	Likely pathogenic
626323	NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser)	Likely pathogenic

SpliceAI

1238 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44701491:GTG:G	donor_gain	1.0000
19:44703348:GCCAC:G	acceptor_gain	1.0000
19:44705866:CTGGT:C	donor_loss	1.0000
19:44705869:GTGAG:G	donor_loss	1.0000
19:44705870:TGAGT:T	donor_loss	1.0000
19:44707857:CCA:C	acceptor_loss	1.0000
19:44707858:CA:C	acceptor_loss	1.0000
19:44707859:A:AG	acceptor_gain	1.0000
19:44707860:G:GT	acceptor_gain	1.0000
19:44707860:GC:G	acceptor_gain	1.0000
19:44707860:GCT:G	acceptor_gain	1.0000
19:44708166:G:GT	donor_gain	1.0000
19:44708188:G:GG	donor_gain	1.0000
19:44703347:A:AG	acceptor_gain	0.9900
19:44703348:G:GA	acceptor_gain	0.9900
19:44703348:GCC:G	acceptor_gain	0.9900
19:44703650:G:GT	donor_gain	0.9900
19:44704013:CACA:C	acceptor_loss	0.9900
19:44704015:CA:C	acceptor_loss	0.9900
19:44704016:A:AC	acceptor_loss	0.9900
19:44704016:A:AG	acceptor_gain	0.9900
19:44704017:G:GG	acceptor_gain	0.9900
19:44704017:G:GT	acceptor_loss	0.9900
19:44704017:GA:G	acceptor_gain	0.9900
19:44704292:GTACT:G	donor_gain	0.9900
19:44704297:G:GG	donor_gain	0.9900
19:44705588:A:AG	acceptor_gain	0.9900
19:44705588:AGTT:A	acceptor_gain	0.9900
19:44705589:G:GG	acceptor_gain	0.9900
19:44705589:GTTG:G	acceptor_gain	0.9900

AlphaMissense

2707 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:44705720:G:C	W264C	0.998
19:44705720:G:T	W264C	0.998
19:44705799:T:G	Y291D	0.998
19:44707968:T:A	W350R	0.998
19:44707968:T:C	W350R	0.998
19:44704127:G:C	W164C	0.997
19:44704127:G:T	W164C	0.997
19:44704230:T:G	Y199D	0.997
19:44705805:T:A	C293S	0.997
19:44705806:G:C	C293S	0.997
19:44705819:C:A	N297K	0.997
19:44705819:C:G	N297K	0.997
19:44708121:T:G	Y401D	0.997
19:44704125:T:A	W164R	0.996
19:44704125:T:C	W164R	0.996
19:44704236:T:A	C201S	0.996
19:44704237:G:C	C201S	0.996
19:44705682:T:A	C252S	0.996
19:44705682:T:C	C252R	0.996
19:44705683:G:C	C252S	0.996
19:44705718:T:A	W264R	0.996
19:44705718:T:C	W264R	0.996
19:44705805:T:C	C293R	0.996
19:44707970:G:C	W350C	0.996
19:44707970:G:T	W350C	0.996
19:44708083:T:C	L388P	0.996
19:44708128:T:C	L403P	0.996
19:44705684:C:G	C252W	0.995
19:44705806:G:A	C293Y	0.995
19:44705807:T:G	C293W	0.995

dbSNP variants (sampled 300 via entrez): RS1001187170 (19:44706303 C>T), RS1001228718 (19:44703162 C>T), RS1001366175 (19:44700928 C>T), RS1001617101 (19:44706500 T>A), RS1002052350 (19:44702523 G>C), RS1002181839 (19:44707715 G>A,C,T), RS1002302599 (19:44697399 C>T), RS1002428548 (19:44702198 C>A), RS1002615072 (19:44704458 C>T), RS1002695261 (19:44699893 T>C), RS1002728018 (19:44700147 A>G), RS1002829606 (19:44699530 C>A,T), RS1002885873 (19:44705239 A>G), RS1002933976 (19:44711044 A>T), RS1002990979 (19:44701840 C>T)

Disease associations

OMIM: gene MIM:614591 | disease phenotypes: MIM:614614, MIM:618410, MIM:128600, MIM:220290, MIM:607197

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant nonsyndromic hearing loss 4B	Strong	Autosomal dominant
hearing loss, autosomal recessive 113	Strong	Autosomal recessive
nonsyndromic genetic hearing loss	Moderate	Autosomal dominant
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
nonsyndromic genetic hearing loss	Strong	AR
nonsyndromic genetic hearing loss	Moderate	AD

Mondo (7): autosomal dominant nonsyndromic hearing loss 4B (MONDO:0013823), hearing loss disorder (MONDO:0005365), hearing loss, autosomal recessive 113 (MONDO:0032732), ear malformation (MONDO:0007500), nonsyndromic genetic hearing loss (MONDO:0019497), hearing loss, autosomal recessive (MONDO:0019588), autosomal dominant nonsyndromic hearing loss (MONDO:0019587)

Orphanet (4): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare genetic deafness (Orphanet:96210), Rare non-syndromic genetic deafness (Orphanet:87884), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636)

HPO phenotypes

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

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000505	Visual impairment
HP:0001751	Abnormal vestibular function
HP:0003621	Juvenile onset

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST001947_2	Alzheimer’s disease (late onset)	5.000000e-39
GCST007827_17	Alzheimer’s disease or HDL levels (pleiotropy)	3.000000e-12
GCST007827_5	Alzheimer’s disease or HDL levels (pleiotropy)	7.000000e-74
GCST007827_6	Alzheimer’s disease or HDL levels (pleiotropy)	7.000000e-54
GCST007827_8	Alzheimer’s disease or HDL levels (pleiotropy)	3.000000e-36
GCST008075_187	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-09
GCST008075_39	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	4.000000e-16
GCST008077_5	LDL cholesterol levels	2.000000e-49
GCST008077_58	LDL cholesterol levels	3.000000e-14
GCST008078_136	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-177
GCST008078_53	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-83
GCST008079_102	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-213
GCST008079_31	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-273
GCST008084_205	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-10
GCST008084_5	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6.000000e-16
GCST008085_95	HDL cholesterol levels in current drinkers	1.000000e-07
GCST008086_114	LDL cholesterol levels in current drinkers	8.000000e-89
GCST008086_14	LDL cholesterol levels in current drinkers	8.000000e-35
GCST009496_17	Alzheimer’s disease (onset between ages 58 and 79)	1.000000e-10
GCST010243_120	Apolipoprotein B levels	1.000000e-11
GCST010243_48	Apolipoprotein B levels	2.000000e-15
GCST010245_207	LDL cholesterol levels	0.000000e+00

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0004615	apolipoprotein B 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
C564609	Deafness, Autosomal Recessive (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

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
CGP 52608	affects binding, increases reaction	1
jinfukang	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	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