TMIE
gene geneOn this page
Summary
TMIE (transmembrane inner ear, HGNC:30800) is a protein-coding gene on chromosome 3p21.31, encoding Transmembrane inner ear expressed protein (Q8NEW7). Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system.
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment.
Source: NCBI Gene 259236 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +2 more curated relationships
- Clinical variants (ClinVar): 144 total — 8 pathogenic, 6 likely-pathogenic
- Phenotypes (HPO): 3
- MANE Select transcript:
NM_147196
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30800 |
| Approved symbol | TMIE |
| Name | transmembrane inner ear |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000181585 |
| Ensembl biotype | protein_coding |
| OMIM | 607237 |
| Entrez | 259236 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000643606, ENST00000644830, ENST00000651652
RefSeq mRNA: 3 — MANE Select: NM_147196
NM_001370524, NM_001370525, NM_147196
CCDS: CCDS43081, CCDS93259
Canonical transcript exons
ENST00000643606 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001268869 | 46709126 | 46709275 |
| ENSE00001268877 | 46705790 | 46705907 |
| ENSE00001301153 | 46709579 | 46710886 |
| ENSE00003825686 | 46701392 | 46701580 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 82.96.
FANTOM5 (CAGE): breadth broad, TPM avg 0.5248 / max 44.2193, expressed in 186 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36495 | 0.2806 | 130 |
| 36496 | 0.2442 | 40 |
Top tissues by expression
225 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.96 | gold quality |
| hypothalamus | UBERON:0001898 | 81.40 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.12 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.99 | silver quality |
| pituitary gland | UBERON:0000007 | 78.86 | gold quality |
| adenohypophysis | UBERON:0002196 | 78.51 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.16 | gold quality |
| amygdala | UBERON:0001876 | 77.26 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 76.97 | gold quality |
| prefrontal cortex | UBERON:0000451 | 76.79 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 75.67 | gold quality |
| neocortex | UBERON:0001950 | 75.60 | gold quality |
| frontal cortex | UBERON:0001870 | 75.40 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 75.34 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 74.93 | gold quality |
| cerebral cortex | UBERON:0000956 | 74.54 | gold quality |
| spinal cord | UBERON:0002240 | 74.50 | gold quality |
| substantia nigra | UBERON:0002038 | 74.18 | gold quality |
| Ammon’s horn | UBERON:0001954 | 73.78 | gold quality |
| temporal lobe | UBERON:0001871 | 73.65 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 73.35 | gold quality |
| midbrain | UBERON:0001891 | 73.15 | gold quality |
| forebrain | UBERON:0001890 | 73.06 | gold quality |
| brain | UBERON:0000955 | 72.27 | gold quality |
| endothelial cell | CL:0000115 | 70.66 | silver quality |
| ventricular zone | UBERON:0003053 | 69.94 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 69.63 | gold quality |
| sperm | CL:0000019 | 69.35 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 69.28 | gold quality |
| cerebellar vermis | UBERON:0004720 | 69.22 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.11 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1H4
miRNA regulators (miRDB)
26 targeting TMIE, 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-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-6819-5P | 97.96 | 66.59 | 1071 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-6737-5P | 97.75 | 66.54 | 1044 |
| HSA-MIR-6812-5P | 97.56 | 65.39 | 1059 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-6773-5P | 97.04 | 64.30 | 595 |
| HSA-MIR-4727-3P | 96.75 | 64.97 | 415 |
| HSA-MIR-6508-3P | 96.73 | 65.48 | 576 |
Literature-anchored findings (GeneRIF, showing 7)
- genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus (PMID:12140191)
- identification of 5 different homozygous recessive mutations in a novel gene, TMIE= transmembrane inner ear expressed gene, in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6 (PMID:12145746)
- The circling mouse is a potential animal model for DFNB6 deafness in humans. (PMID:14727813)
- p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL) (PMID:19438934)
- We suggest that a missense variant and one promoter variant is de novo and may be a risk factor for the development of hearing loss in Taiwanese (PMID:20206386)
- Description of the spectrum of mutations in TMIE in 374 families with autosomal recessive, non-syndromic hearing loss from India. (PMID:24416283)
- Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness. (PMID:35710363)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tmie | ENSMUSG00000049555 |
| rattus_norvegicus | Tmie | ENSRNOG00000027799 |
Protein
Protein identifiers
Transmembrane inner ear expressed protein — Q8NEW7 (reviewed: Q8NEW7)
All UniProt accessions (3): A0A2R8YDZ8, A0A494C1A3, Q8NEW7
UniProt curated annotations — full annotation on UniProt →
Function. Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15. May contribute to the formation of the pore.
Subunit / interactions. Forms the MET channel composed of TMC (TMC1 or TMC2), TMIE, TOMT, CIB (CIB2 or CIB3), LHPL5 and PCDH15.
Subcellular location. Membrane.
Tissue specificity. Expressed in many tissues.
Disease relevance. Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971] 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.
RefSeq proteins (3): NP_001357453, NP_001357454, NP_671729* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR032006 | TMIE | Family |
Pfam: PF16038
UniProt features (10 total): sequence variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NEW7-F1 | 63.41 | 0.07 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9662360 | Sensory processing of sound by inner hair cells of the cochlea |
| R-HSA-9662361 | Sensory processing of sound by outer hair cells of the cochlea |
MSigDB gene sets: 100 (showing top):
GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EAR_DEVELOPMENT, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_EAR_MORPHOGENESIS, RYTTCCTG_ETS2_B, GOBP_SENSORY_PERCEPTION, RFX1_02, GOBP_EMBRYO_DEVELOPMENT, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_SENSORY_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_ORGAN_DEVELOPMENT, GOBP_INNER_EAR_MORPHOGENESIS, GAVIN_FOXP3_TARGETS_CLUSTER_P4, GAVIN_IL2_RESPONSIVE_FOXP3_TARGETS_DN
GO Biological Process (2): sensory perception of sound (GO:0007605), inner ear morphogenesis (GO:0042472)
GO Molecular Function (0):
GO Cellular Component (1): membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Sensory processing of sound | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sensory perception of mechanical stimulus | 1 |
| ear morphogenesis | 1 |
| embryonic morphogenesis | 1 |
| inner ear development | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
308 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMIE | LHFPL5 | Q8TAF8 | 984 |
| TMIE | TMC1 | Q8TDI8 | 978 |
| TMIE | GJB2 | P29033 | 896 |
| TMIE | TMC2 | Q8TDI7 | 864 |
| TMIE | PCDH15 | Q96QU1 | 790 |
| TMIE | CIB2 | O75838 | 752 |
| TMIE | TMPRSS3 | P57727 | 731 |
| TMIE | MYO15A | Q9UKN7 | 673 |
| TMIE | CDH23 | Q9H251 | 665 |
| TMIE | E9PNW1 | E9PNW1 | 645 |
| TMIE | OTOF | Q9HC10 | 620 |
| TMIE | SLC26A4 | O43511 | 598 |
| TMIE | TRIOBP | Q9H2D6 | 595 |
| TMIE | GRXCR1 | A8MXD5 | 582 |
| TMIE | TMPRSS4 | Q9NRS4 | 582 |
| TMIE | OTOA | Q7RTW8 | 582 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| TMIE | TRIM3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid), TMIE (Two-hybrid)
ESM2 similar proteins: D4A6L0, I3LMB3, O00168, O73698, O76095, O77049, O88823, O88824, O97797, P0C851, P54710, P56513, P59645, P59646, Q04645, Q04646, Q04679, Q04680, Q08CB3, Q14802, Q1RMB5, Q1XF11, Q3MHZ5, Q3SZX0, Q3UPR0, Q4R566, Q5RB29, Q5T848, Q61835, Q63113, Q66IQ1, Q6X9T8, Q70RD5, Q810F0, Q86XR5, Q8C419, Q8K467, Q8NEW7, Q8QZT4, Q8R143
Diamond homologs: Q8K467, Q8NEW7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
144 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 6 |
| Uncertain significance | 65 |
| Likely benign | 22 |
| Benign | 20 |
Top pathogenic / likely-pathogenic (14)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1185676 | NM_147196.3(TMIE):c.144_145del (p.Val49fs) | Pathogenic |
| 1342310 | NM_001370524.1(TMIE):c.-507_-66-2329del | Pathogenic |
| 2418284 | NM_147196.3(TMIE):c.362-2A>G | Pathogenic |
| 3389 | NM_147196.3(TMIE):c.122_125del (p.Pro41fs) | Pathogenic |
| 3392 | NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) | Pathogenic |
| 3393 | NM_147196.3(TMIE):c.94-2_98delinsC | Pathogenic |
| 3394 | NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) | Pathogenic |
| 3601927 | NM_147196.3(TMIE):c.286C>T (p.Arg96Ter) | Pathogenic |
| 1180704 | NM_147196.3(TMIE):c.349G>T (p.Glu117Ter) | Likely pathogenic |
| 3391 | NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) | Likely pathogenic |
| 3601928 | NM_147196.3(TMIE):c.87_88insT (p.Val30fs) | Likely pathogenic |
| 3780719 | NM_147196.3(TMIE):c.361+1G>A | Likely pathogenic |
| 47957 | NM_147196.3(TMIE):c.211+3G>C | Likely pathogenic |
| 47958 | NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) | Likely pathogenic |
SpliceAI
634 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:46705788:A:AG | acceptor_gain | 1.0000 |
| 3:46705789:G:GG | acceptor_gain | 1.0000 |
| 3:46705789:GCCC:G | acceptor_gain | 1.0000 |
| 3:46705789:GCCCA:G | acceptor_gain | 1.0000 |
| 3:46705905:TCA:T | donor_gain | 1.0000 |
| 3:46705908:G:GG | donor_gain | 1.0000 |
| 3:46709121:TACAG:T | acceptor_loss | 1.0000 |
| 3:46709122:A:AG | acceptor_gain | 1.0000 |
| 3:46709122:ACAGT:A | acceptor_loss | 1.0000 |
| 3:46709123:C:G | acceptor_gain | 1.0000 |
| 3:46709123:CAGTC:C | acceptor_loss | 1.0000 |
| 3:46709124:A:AG | acceptor_gain | 1.0000 |
| 3:46709125:G:GT | acceptor_gain | 1.0000 |
| 3:46709125:G:T | acceptor_loss | 1.0000 |
| 3:46709125:GT:G | acceptor_gain | 1.0000 |
| 3:46709125:GTC:G | acceptor_gain | 1.0000 |
| 3:46709125:GTCA:G | acceptor_gain | 1.0000 |
| 3:46709125:GTCAT:G | acceptor_gain | 1.0000 |
| 3:46709271:AGGAG:A | donor_gain | 1.0000 |
| 3:46709272:GGAG:G | donor_gain | 1.0000 |
| 3:46709272:GGAGG:G | donor_gain | 1.0000 |
| 3:46709273:G:GT | donor_gain | 1.0000 |
| 3:46709273:GAG:G | donor_gain | 1.0000 |
| 3:46709273:GAGGT:G | donor_loss | 1.0000 |
| 3:46709276:G:GG | donor_gain | 1.0000 |
| 3:46709276:GTGA:G | donor_loss | 1.0000 |
| 3:46709277:T:G | donor_loss | 1.0000 |
| 3:46709574:CACA:C | acceptor_loss | 1.0000 |
| 3:46709575:ACAG:A | acceptor_loss | 1.0000 |
| 3:46709576:CAGA:C | acceptor_loss | 1.0000 |
AlphaMissense
1005 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:46705865:T:A | W57R | 1.000 |
| 3:46705865:T:C | W57R | 1.000 |
| 3:46705867:G:C | W57C | 0.999 |
| 3:46705867:G:T | W57C | 0.999 |
| 3:46705878:G:A | G61D | 0.999 |
| 3:46709137:T:C | C75R | 0.999 |
| 3:46709138:G:A | C75Y | 0.999 |
| 3:46709162:C:A | P83Q | 0.999 |
| 3:46709180:T:G | I89S | 0.999 |
| 3:46709185:G:C | A91P | 0.999 |
| 3:46709201:G:C | R96P | 0.999 |
| 3:46705877:G:C | G61R | 0.998 |
| 3:46709161:C:A | P83T | 0.998 |
| 3:46709161:C:T | P83S | 0.998 |
| 3:46709180:T:A | I89N | 0.998 |
| 3:46705859:C:A | R55S | 0.997 |
| 3:46709139:C:G | C75W | 0.997 |
| 3:46709140:T:C | C76R | 0.997 |
| 3:46709144:T:A | V77D | 0.997 |
| 3:46709152:T:C | C80R | 0.997 |
| 3:46709155:C:A | R81S | 0.997 |
| 3:46709168:C:T | T85I | 0.997 |
| 3:46709189:G:C | R92P | 0.997 |
| 3:46709206:G:C | A98P | 0.997 |
| 3:46709231:T:C | L106P | 0.997 |
| 3:46705848:T:C | F51S | 0.996 |
| 3:46709137:T:A | C75S | 0.996 |
| 3:46709138:G:C | C75S | 0.996 |
| 3:46709155:C:G | R81G | 0.996 |
| 3:46709161:C:G | P83A | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000033865 (3:46697512 C>G), RS1000130916 (3:46711245 T>C), RS1000156454 (3:46704525 C>A,G,T), RS1000246102 (3:46710850 G>T), RS1000295317 (3:46695061 C>T), RS1000770567 (3:46701622 C>T), RS1000823488 (3:46701433 A>G), RS1001059427 (3:46707750 C>G,T), RS1001286857 (3:46696864 G>A,T), RS1001380427 (3:46703687 A>C), RS1001653865 (3:46709417 T>A,C), RS1001772735 (3:46703071 C>T), RS1001823530 (3:46702834 G>A,T), RS1001837689 (3:46710151 G>T), RS1002127314 (3:46709747 A>C)
Disease associations
OMIM: gene MIM:607237 | disease phenotypes: MIM:600971, MIM:128600, MIM:220290, MIM:607197
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nonsyndromic genetic hearing loss | Definitive | Autosomal recessive |
| autosomal recessive nonsyndromic hearing loss 6 | Strong | Autosomal recessive |
| hearing loss, autosomal recessive | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| nonsyndromic genetic hearing loss | Definitive | AR |
Mondo (6): autosomal recessive nonsyndromic hearing loss 6 (MONDO:0010965), ear malformation (MONDO:0007500), hearing loss, autosomal recessive (MONDO:0019588), sensorineural hearing loss disorder (MONDO:0020678), hearing loss disorder (MONDO:0005365), nonsyndromic genetic hearing loss (MONDO:0019497)
Orphanet (3): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare genetic deafness (Orphanet:96210)
HPO phenotypes
3 total (4 of 3 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0003577 | Congenital onset |
| HP:0000407 | Sensorineural hearing impairment |
GWAS associations
0 associations (top):
MeSH disease descriptors (4)
| 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.) | |
| C563418 | Deafness, Autosomal Recessive 6 (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
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| bisphenol A | affects methylation | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Methapyrilene | decreases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
299 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 |
| NCT01655212 | PHASE3 | TERMINATED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial |
| NCT02005822 | PHASE3 | COMPLETED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment |
| NCT03374514 | PHASE3 | UNKNOWN | Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery |
| 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 |
| NCT02497690 | PHASE2 | COMPLETED | Effectiveness of Therapy Via Telemedicine Following Cochlear Implants |
| NCT03107871 | PHASE2 | ACTIVE_NOT_RECRUITING | Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants |
| NCT04120116 | PHASE2 | COMPLETED | FX-322 in Adults With Stable Sensorineural Hearing Loss |
| NCT05061758 | PHASE2 | WITHDRAWN | A Trial of LY3056480 in Patients With SNLH |
| NCT07364747 | PHASE2 | RECRUITING | Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial |
| 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 |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
| 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 |
| 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 |
| NCT06431698 | Not specified | UNKNOWN | CORRECTION OF EAR DEFORMITIES IN NEWBORNS BY MODELING, COMPARISON OF TWO PROTOCOLS |
Related Atlas pages
- Associated diseases: autosomal recessive nonsyndromic hearing loss 6, nonsyndromic genetic hearing loss, hearing loss, autosomal recessive
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive nonsyndromic hearing loss 6, ear malformation, hearing loss, autosomal recessive, nonsyndromic genetic hearing loss, sensorineural hearing loss disorder