FMN1

Summary

FMN1 (formin 1, HGNC:3768) is a protein-coding gene on chromosome 15q13.3, encoding Formin-1 (Q68DA7). Plays a role in the formation of adherens junction and the polymerization of linear actin cables.

This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 342184 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hearing loss disorder (Moderate, GenCC)
• GWAS associations: 15
• Clinical variants (ClinVar): 610 total — 2 pathogenic
• MANE Select transcript: NM_001277313

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3768
Approved symbol	FMN1
Name	formin 1
Location	15q13.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP686C2281, FLJ45135, MGC125288, MGC125289
Ensembl gene	ENSG00000248905
Ensembl biotype	protein_coding
OMIM	136535
Entrez	342184

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000320930, ENST00000334528, ENST00000558197, ENST00000558628, ENST00000558711, ENST00000558882, ENST00000559150, ENST00000559610, ENST00000560317, ENST00000561249, ENST00000616417, ENST00000672206, ENST00000674090

RefSeq mRNA: 3 — MANE Select: NM_001277313 NM_001103184, NM_001277313, NM_001277314

CCDS: CCDS45209, CCDS61581, CCDS61582

Canonical transcript exons

ENST00000616417 — 21 exons

Exon	Start	End
ENSE00001107820	32899979	32900125
ENSE00001107854	32898834	32898893
ENSE00001367760	33153048	33155045
ENSE00001371478	33008014	33008075
ENSE00001376948	32964107	32964257
ENSE00001382099	32968714	32969477
ENSE00001385174	32908490	32908578
ENSE00001385570	33064957	33065074
ENSE00001387686	32901911	32902040
ENSE00001387740	32888172	32888292
ENSE00001493658	33180198	33180262
ENSE00001493659	33193909	33194060
ENSE00002562450	33088799	33088974
ENSE00003481971	32804281	32804332
ENSE00003534239	32857015	32857107
ENSE00003548205	32926174	32926261
ENSE00003560196	32910474	32910535
ENSE00003616245	32798804	32798953
ENSE00003653855	32776835	32776919
ENSE00003719293	33194578	33194714
ENSE00003726320	32765544	32774354

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 90.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9257 / max 243.7578, expressed in 977 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149207	0.8874	285
149178	0.6457	288
149214	0.5702	176
149208	0.4279	191
149179	0.3670	179
149165	0.3019	41
149177	0.2458	117
149211	0.2360	107
149209	0.2294	128
149215	0.2241	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.51	gold quality
secondary oocyte	CL:0000655	82.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.24	gold quality
colonic epithelium	UBERON:0000397	81.16	gold quality
oocyte	CL:0000023	79.68	gold quality
calcaneal tendon	UBERON:0003701	78.38	gold quality
islet of Langerhans	UBERON:0000006	76.60	gold quality
skin of leg	UBERON:0001511	76.22	gold quality
rectum	UBERON:0001052	75.59	gold quality
mucosa of stomach	UBERON:0001199	75.33	gold quality
mucosa of transverse colon	UBERON:0004991	75.06	gold quality
testis	UBERON:0000473	74.95	gold quality
skin of abdomen	UBERON:0001416	74.69	gold quality
left testis	UBERON:0004533	74.67	gold quality
stromal cell of endometrium	CL:0002255	74.45	gold quality
vagina	UBERON:0000996	73.83	gold quality
upper lobe of left lung	UBERON:0008952	73.74	gold quality
right testis	UBERON:0004534	73.62	gold quality
zone of skin	UBERON:0000014	73.36	gold quality
transverse colon	UBERON:0001157	73.33	gold quality
upper lobe of lung	UBERON:0008948	73.17	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.73	gold quality
sural nerve	UBERON:0015488	72.56	gold quality
prefrontal cortex	UBERON:0000451	72.24	gold quality
corpus callosum	UBERON:0002336	72.06	gold quality
right uterine tube	UBERON:0001302	71.61	gold quality
bone marrow cell	CL:0002092	71.57	silver quality
smooth muscle tissue	UBERON:0001135	71.38	gold quality
minor salivary gland	UBERON:0001830	71.26	gold quality
stomach	UBERON:0000945	70.98	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	5496.37
E-GEOD-180759	yes	1754.61
E-GEOD-131882	yes	1202.45
E-GEOD-137537	yes	883.76
E-MTAB-8060	yes	139.42
E-CURD-119	yes	67.47
E-HCAD-35	yes	64.96
E-ANND-3	yes	8.79
E-MTAB-6524	no	96.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

276 targeting FMN1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478

Literature-anchored findings (GeneRIF, showing 9)

• both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2 (PMID:19605360)
• The obtained data indicate the possibility of participation of polymorphism in gene FMN1 in formation of predisposition to prostate cancer. (PMID:20540360)
• Chromosomal imbalances in the GREM1 FMN1 region in individuals with limb defects are reported here. (PMID:20610440)
• Filopodia initiation: focus on the Arp2/3 complex and formins. (PMID:21975549)
• actin arcs populating the medial, lamella-like region of the immunological synapse (IS) arise from linear actin filaments generated by one or more formins present at the IS distal edge. (PMID:27799367)
• Formin-1 (FMN1) was shown to reside in the nucleus and studies indicate that some formins can shuttle in and out of the nucleus. (PMID:27913680)
• These findings reveal a previously unrecognized role for formin-dependent actin architectures in proximal TGF-beta signaling (PMID:29668357)
• In the article it is discussed how and to what extent formins-mediated F-actin restoration might confer mechanostress resistance to the cell. (Review) (PMID:30309655)
• Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk. (PMID:33200553)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	fmn1	ENSDARG00000011975
danio_rerio	si:rp71-62i8.1	ENSDARG00000099352
danio_rerio	si:ch1073-209e23.1	ENSDARG00000100805
danio_rerio		ENSDARG00000102003
mus_musculus	Fmn1	ENSMUSG00000044042
rattus_norvegicus	Fmn1	ENSRNOG00000031760

Protein

Protein identifiers

Formin-1 — Q68DA7 (reviewed: Q68DA7)

Alternative names: Limb deformity protein homolog

All UniProt accessions (6): A0A5F9ZHS8, H0YL93, H0YLM7, H0YM30, H0YMP0, Q68DA7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the formation of adherens junction and the polymerization of linear actin cables.

Subunit / interactions. Interacts with alpha-catenin and may interact with tubulin.

Subcellular location. Nucleus. Cytoplasm. Cell junction. Adherens junction. Cell membrane.

Post-translational modifications. Phosphorylated on serine and possibly threonine residues.

Similarity. Belongs to the formin homology family. Cappuccino subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q68DA7-1	1	yes
Q68DA7-2	2
Q68DA7-3	3
Q68DA7-5	5

RefSeq proteins (3): NP_001096654, NP_001264242, NP_001264243 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001265	Formin_Cappuccino_subfam	Family
IPR015425	FH2_Formin	Domain
IPR042201	FH2_Formin_sf	Homologous_superfamily

Pfam: PF02181

UniProt features (33 total): compositionally biased region 10, region of interest 8, splice variant 6, sequence conflict 4, domain 2, chain 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68DA7-F1	55.95	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): MODULE_255, chr15q13, MODULE_317, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_ACTIN_BINDING, GOCC_CELL_CELL_JUNCTION, GOBP_ACTIN_NUCLEATION, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, MODULE_69, GOCC_ANCHORING_JUNCTION, GOCC_ORGANELLE_SUBCOMPARTMENT, PID_ECADHERIN_KERATINOCYTE_PATHWAY, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (2): actin cytoskeleton organization (GO:0030036), actin nucleation (GO:0045010)

GO Molecular Function (2): actin binding (GO:0003779), microtubule binding (GO:0008017)

GO Cellular Component (8): nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), actin filament (GO:0005884), plasma membrane (GO:0005886), adherens junction (GO:0005912), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoskeleton organization	1
actin filament-based process	1
actin filament organization	1
cytoskeletal protein binding	1
tubulin binding	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
actin cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cell periphery	1
cell-cell junction	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

1584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FMN1	SPIRE1	Q08AE8	953
FMN1	GREM1	O60565	844
FMN1	SPIRE2	Q8WWL2	840
FMN1	WBP4	O75554	822
FMN1	PRPF40A	O75400	791
FMN1	SCG5	P01164	738
FMN1	PFN4	Q8NHR9	736
FMN1	PFN3	P60673	666
FMN1	PFN1	P07737	658
FMN1	MTMR10	Q9NXD2	644
FMN1	FNBP4	Q8N3X1	595
FMN1	FNBP1	Q96RU3	578
FMN1	SRGAP2	O75044	554
FMN1	CDC5L	Q99459	548
FMN1	FAN1	Q9Y2M0	547

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CBX1	KPNA3	psi-mi:“MI:0914”(association)	0.530
FMN1	CYP2S1	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (15): FMN1 (Proximity Label-MS), FMN1 (Affinity Capture-MS), FMN1 (Affinity Capture-MS), FMN1 (Proximity Label-MS), CYP2S1 (Affinity Capture-MS), NAPG (Affinity Capture-MS), FMN1 (Affinity Capture-MS), FMN1 (Affinity Capture-MS), FMN1 (Protein-peptide), NAPG (Affinity Capture-MS), CYP2S1 (Affinity Capture-MS), FMN1 (Proximity Label-MS), FMN1 (Affinity Capture-MS), LRP8 (Cross-Linking-MS (XL-MS)), RAB8A (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6

Diamond homologs: P78621, Q05858, Q05860, Q24120, Q5TJ55, Q68DA7, Q8GX37, Q9JL04, Q9NZ56, A0A1D5P556, Q1ZXK2, Q5AL52, Q9TYU9, A2XUA1, O22824, O23373, P41832, Q0D5P3, Q5AAF4, Q69MT2, Q7XUV2, Q8H8K7, Q8S0F0, Q9FJX6, Q80U19, Q54SP2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	322
Likely benign	96
Benign	139

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3780526	NM_001277313.2(FMN1):c.1867+10788_1867+10789dup	Pathogenic
3892252	NM_001277313.2(FMN1):c.1867+14927_1867+14960del	Pathogenic

SpliceAI

3661 predictions. Top by Δscore:

Variant	Effect	Δscore
15:32774231:T:TA	donor_gain	1.0000
15:32776919:TCTGA:T	acceptor_loss	1.0000
15:32776920:CTGAA:C	acceptor_loss	1.0000
15:32776921:T:A	acceptor_loss	1.0000
15:32798803:CCTTT:C	donor_gain	1.0000
15:32798954:C:CC	acceptor_gain	1.0000
15:32804275:GCTTA:G	donor_loss	1.0000
15:32804276:CTTA:C	donor_loss	1.0000
15:32804277:TTAC:T	donor_loss	1.0000
15:32804278:TA:T	donor_loss	1.0000
15:32804279:A:C	donor_loss	1.0000
15:32804280:C:A	donor_loss	1.0000
15:32804333:C:CC	acceptor_gain	1.0000
15:32857009:TCCTA:T	donor_loss	1.0000
15:32857010:CCTAC:C	donor_loss	1.0000
15:32857011:CTACC:C	donor_loss	1.0000
15:32857012:TACC:T	donor_loss	1.0000
15:32857013:ACCTT:A	donor_loss	1.0000
15:32857014:C:CG	donor_loss	1.0000
15:32857108:C:CC	acceptor_gain	1.0000
15:32888166:TATTA:T	donor_loss	1.0000
15:32888167:ATTAC:A	donor_loss	1.0000
15:32888168:TTA:T	donor_loss	1.0000
15:32888169:TAC:T	donor_loss	1.0000
15:32899985:TTTG:T	donor_gain	1.0000
15:32899992:T:TA	donor_gain	1.0000
15:32908488:A:AC	donor_gain	1.0000
15:32908489:C:CC	donor_gain	1.0000
15:32908489:CTG:C	donor_gain	1.0000
15:32908489:CTGCT:C	donor_gain	1.0000

AlphaMissense

9295 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:32926218:A:G	I1061T	1.000
15:32968740:C:A	W987C	1.000
15:32968740:C:G	W987C	1.000
15:32968742:A:G	W987R	1.000
15:32968742:A:T	W987R	1.000
15:32798871:A:G	W1355R	0.999
15:32798871:A:T	W1355R	0.999
15:32899998:A:G	L1212P	0.999
15:32899998:A:T	L1212H	0.999
15:32902000:G:T	R1140S	0.999
15:32902026:A:G	L1131S	0.999
15:32902035:A:G	L1128S	0.999
15:32902037:A:C	F1127L	0.999
15:32902037:A:T	F1127L	0.999
15:32902038:A:G	F1127S	0.999
15:32902039:A:G	F1127L	0.999
15:32910508:A:T	V1085D	0.999
15:32926215:A:G	L1062S	0.999
15:32926218:A:C	I1061S	0.999
15:32926218:A:T	I1061N	0.999
15:32926221:C:T	G1060E	0.999
15:32926222:C:G	G1060R	0.999
15:32926222:C:T	G1060R	0.999
15:32926248:A:G	L1051S	0.999
15:32964233:C:A	W1004C	0.999
15:32964233:C:G	W1004C	0.999
15:32964235:A:G	W1004R	0.999
15:32964235:A:T	W1004R	0.999
15:32898877:A:G	L1224P	0.998
15:32899989:A:T	V1215D	0.998

dbSNP variants (sampled 300 via entrez): RS1000000081 (15:32998411 C>T), RS1000009486 (15:32788972 A>C,G), RS1000009491 (15:32788689 A>G), RS1000012935 (15:32923442 A>T), RS1000014980 (15:33037583 G>GA), RS1000016450 (15:32776079 CAA>C,CA,CAAA,CAAAAAA), RS1000019409 (15:33047777 C>G,T), RS1000025506 (15:32897470 G>A,T), RS1000029144 (15:33139866 G>A), RS1000033438 (15:33148122 T>C), RS1000052 (15:33076490 G>A), RS1000058923 (15:33118446 G>A), RS1000061449 (15:32915279 A>G), RS1000072759 (15:32930572 T>C), RS1000081478 (15:32777367 GATA>G)

Disease associations

OMIM: gene MIM:136535 | disease phenotypes: MIM:614291

GenCC curated gene-disease

Disease	Classification	Inheritance
hearing loss disorder	Moderate	Autosomal recessive

Mondo (3): hereditary breast ovarian cancer syndrome (MONDO:0003582), breast-ovarian cancer, familial, susceptibility to, 4 (MONDO:0013669), hearing loss disorder (MONDO:0005365)

Orphanet (1): Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000547_2	Orofacial clefts	1.000000e-06
GCST001850_16	Major depressive disorder	8.000000e-06
GCST002397_5	Bladder cancer (smoking interaction)	7.000000e-07
GCST004283_10	Midgestational circulating levels of PCBs	1.000000e-06
GCST004283_16	Midgestational circulating levels of PCBs	9.000000e-07
GCST004768_1	Motor development (prenatal lead exposure interaction)	1.000000e-06
GCST006431_19	Plasma parathyroid hormone levels	3.000000e-06
GCST007504_4	Nevus count	7.000000e-06
GCST007505_5	Nevus count or cutaneous melanoma	1.000000e-10
GCST010303_18	Nevus count or cutaneous melanoma	1.000000e-18
GCST010307_13	Urinary albumin excretion	1.000000e-08
GCST011011_28	Youthful appearance (self-reported)	4.000000e-09
GCST90002383_264	Hematocrit	2.000000e-16
GCST90002384_375	Hemoglobin	2.000000e-13
GCST90002403_475	Red blood cell count	1.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0007042	polychlorinated biphenyls measurement
EFO:0007964	gestational serum measurement
EFO:0008237	motor development measurement
EFO:0004632	nevus count
EFO:0004285	albuminuria
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431

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
Estradiol	increases expression	4
Benzo(a)pyrene	decreases expression, decreases methylation, affects methylation	3
Valproic Acid	increases expression, affects expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
picene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
entinostat	increases expression	1
bisphenol B	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

351 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
NCT02562170	PHASE4	COMPLETED	Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
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
NCT00673335	PHASE3	COMPLETED	Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256	PHASE3	COMPLETED	Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276	PHASE3	UNKNOWN	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
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
NCT00253539	PHASE2	COMPLETED	Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695	PHASE2	COMPLETED	Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633	PHASE2	COMPLETED	Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748	PHASE2	COMPLETED	Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639	PHASE2	COMPLETED	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
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
NCT00535119	PHASE1	COMPLETED	Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer