OTOA
geneOn this page
Also known as CT108
Summary
OTOA (otoancorin, HGNC:16378) is a protein-coding gene on chromosome 16p12.2, encoding Otoancorin (Q7RTW8). May act as an adhesion molecule.
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 146183 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 1
- Clinical variants (ClinVar): 796 total — 57 pathogenic, 33 likely-pathogenic
- Phenotypes (HPO): 2
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_144672
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16378 |
| Approved symbol | OTOA |
| Name | otoancorin |
| Location | 16p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CT108 |
| Ensembl gene | ENSG00000155719 |
| Ensembl biotype | protein_coding |
| OMIM | 607038 |
| Entrez | 146183 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000286149, ENST00000388956, ENST00000388957, ENST00000388958, ENST00000563506, ENST00000563871, ENST00000569064, ENST00000646100, ENST00000647277
RefSeq mRNA: 3 — MANE Select: NM_144672
NM_001161683, NM_144672, NM_170664
CCDS: CCDS10600, CCDS32403, CCDS53994
Canonical transcript exons
ENST00000646100 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001620241 | 21719387 | 21719504 |
| ENSE00001621261 | 21697775 | 21697875 |
| ENSE00001627233 | 21685230 | 21685361 |
| ENSE00001627340 | 21719133 | 21719191 |
| ENSE00001655532 | 21681738 | 21681825 |
| ENSE00001656128 | 21691584 | 21691687 |
| ENSE00001702377 | 21705169 | 21705292 |
| ENSE00001717181 | 21679184 | 21679211 |
| ENSE00001748269 | 21700888 | 21701027 |
| ENSE00001754045 | 21687413 | 21687648 |
| ENSE00001786904 | 21679036 | 21679066 |
| ENSE00001804401 | 21678915 | 21678943 |
| ENSE00003461045 | 21736261 | 21736390 |
| ENSE00003462401 | 21752369 | 21752505 |
| ENSE00003477917 | 21722905 | 21722978 |
| ENSE00003481559 | 21751935 | 21752077 |
| ENSE00003484059 | 21744881 | 21745036 |
| ENSE00003558111 | 21716907 | 21717047 |
| ENSE00003565000 | 21714985 | 21715152 |
| ENSE00003574342 | 21728241 | 21728431 |
| ENSE00003615926 | 21726523 | 21726658 |
| ENSE00003640716 | 21730837 | 21730930 |
| ENSE00003668917 | 21753027 | 21753124 |
| ENSE00003672063 | 21757082 | 21757277 |
| ENSE00003674219 | 21740721 | 21740908 |
| ENSE00003688010 | 21709888 | 21710103 |
| ENSE00003817826 | 21663968 | 21664232 |
| ENSE00003824813 | 21678511 | 21678605 |
| ENSE00003901178 | 21760470 | 21760729 |
Expression profiles
Bgee: expression breadth broad, 86 present calls, max score 78.53.
Top tissues by expression
109 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 | 78.53 | gold quality |
| left testis | UBERON:0004533 | 69.42 | gold quality |
| testis | UBERON:0000473 | 69.30 | gold quality |
| right testis | UBERON:0004534 | 67.98 | gold quality |
| adrenal tissue | UBERON:0018303 | 65.24 | gold quality |
| spleen | UBERON:0002106 | 59.23 | gold quality |
| prefrontal cortex | UBERON:0000451 | 57.23 | gold quality |
| primary visual cortex | UBERON:0002436 | 54.75 | gold quality |
| bone marrow | UBERON:0002371 | 54.54 | gold quality |
| colonic epithelium | UBERON:0000397 | 53.75 | gold quality |
| frontal cortex | UBERON:0001870 | 52.86 | gold quality |
| bone marrow cell | CL:0002092 | 52.72 | silver quality |
| lymph node | UBERON:0000029 | 51.21 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 50.87 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 50.03 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 49.41 | gold quality |
| cerebral cortex | UBERON:0000956 | 48.81 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 48.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 48.23 | gold quality |
| monocyte | CL:0000576 | 48.13 | silver quality |
| gall bladder | UBERON:0002110 | 47.57 | gold quality |
| leukocyte | CL:0000738 | 47.52 | silver quality |
| right frontal lobe | UBERON:0002810 | 46.76 | gold quality |
| adrenal gland | UBERON:0002369 | 46.31 | gold quality |
| liver | UBERON:0002107 | 45.82 | gold quality |
| blood | UBERON:0000178 | 45.72 | gold quality |
| placenta | UBERON:0001987 | 45.37 | gold quality |
| muscle tissue | UBERON:0002385 | 44.97 | silver quality |
| right coronary artery | UBERON:0001625 | 44.95 | gold quality |
| left adrenal gland | UBERON:0001234 | 44.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting OTOA, 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-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-519A-2-5P | 98.78 | 71.74 | 1401 |
| HSA-MIR-520B-5P | 98.78 | 71.74 | 1401 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-6819-5P | 97.96 | 66.59 | 1071 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-6737-5P | 97.75 | 66.54 | 1044 |
| HSA-MIR-6812-5P | 97.56 | 65.39 | 1059 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 7)
- Large deletions in OTOA gene is associated with hearing loss. (PMID:19888295)
- A description of two novel OTOA mutations that were discovered in three consanguineous Pakistani families segregating autosomal recessive non-syndromic hearing impairment. (PMID:23173898)
- non-segregation of an OTOA p.Gln293Arg variant led to the discovery of a genomic microdeletion of OTOA on the opposite allele by copy number variation analysis. Overall, 13 pairs of recessive candidate variants were deemed causative in 13 patients. (PMID:29178603)
- the results of this reverse translational study confirmed GPI-anchorage of OTOA and showed that downstream sequences from the 589th amino acid are critical for GPI-anchorage. (PMID:30740825)
- Polymorphisms in Neuronal Growth Regulator 1 and Otoancorin Alternate the Susceptibility to Lung Cancer in Chinese Nonsmoking Females. (PMID:32552051)
- Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients. (PMID:33492714)
- [Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]. (PMID:37114731)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Otoa | ENSMUSG00000034990 |
| rattus_norvegicus | Otoa | ENSRNOG00000017487 |
Paralogs (3): MSLN (ENSG00000102854), MSLNL (ENSG00000162006), STRC (ENSG00000242866)
Protein
Protein identifiers
Otoancorin — Q7RTW8 (reviewed: Q7RTW8)
All UniProt accessions (2): Q7RTW8, A0A2R8YG28
UniProt curated annotations — full annotation on UniProt →
Function. May act as an adhesion molecule.
Subcellular location. Apical cell membrane. Secreted. Extracellular space. Extracellular matrix.
Disease relevance. Deafness, autosomal recessive, 22 (DFNB22) [MIM:607039] 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.
Similarity. Belongs to the stereocilin family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7RTW8-1 | 1 | yes |
| Q7RTW8-2 | 2 | |
| Q7RTW8-3 | 3 | |
| Q7RTW8-4 | 4 | |
| Q7RTW8-5 | 5 |
RefSeq proteins (3): NP_001155155, NP_653273, NP_733764 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026664 | Stereocilin-rel | Family |
UniProt features (25 total): glycosylation site 12, splice variant 7, signal peptide 1, chain 1, propeptide 1, sequence conflict 1, region of interest 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7RTW8-F1 | 84.12 | 0.52 |
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 (1): 1130
Glycosylation sites (12): 394, 398, 460, 544, 812, 911, 974, 156, 211, 244, 289, 321
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
MSigDB gene sets: 51 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_GROWTH, GOCC_CELL_SURFACE, GOBP_MULTICELLULAR_ORGANISM_GROWTH, BALLIF_DEVELOPMENTAL_DISABILITY_P16_P12_DELETION, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_SENSORY_PERCEPTION, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_CELL_MATRIX_ADHESION, GOCC_APICAL_PART_OF_CELL, chr16p12, GOCC_SIDE_OF_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOBP_DEVELOPMENTAL_GROWTH
GO Biological Process (4): cell-matrix adhesion (GO:0007160), sensory perception of sound (GO:0007605), transmission of nerve impulse (GO:0019226), multicellular organism growth (GO:0035264)
GO Molecular Function (0):
GO Cellular Component (6): extracellular region (GO:0005576), plasma membrane (GO:0005886), cell surface (GO:0009986), apical plasma membrane (GO:0016324), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| membrane | 2 |
| cell-substrate adhesion | 1 |
| sensory perception of mechanical stimulus | 1 |
| action potential | 1 |
| cell communication | 1 |
| chemical synaptic transmission | 1 |
| nervous system process | 1 |
| multicellular organismal process | 1 |
| developmental growth | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
414 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OTOA | OTOG | Q6ZRI0 | 955 |
| OTOA | TECTA | O75443 | 930 |
| OTOA | TECTB | Q96PL2 | 925 |
| OTOA | MYO15A | Q9UKN7 | 697 |
| OTOA | TMPRSS3 | P57727 | 667 |
| OTOA | OTOF | Q9HC10 | 663 |
| OTOA | TMC1 | Q8TDI8 | 642 |
| OTOA | LOXHD1 | Q8IVV2 | 629 |
| OTOA | SLC26A4 | O43511 | 629 |
| OTOA | GJB2 | P29033 | 620 |
| OTOA | LHFPL5 | Q8TAF8 | 602 |
| OTOA | CDH23 | Q9H251 | 595 |
| OTOA | TMPRSS4 | Q9NRS4 | 590 |
| OTOA | GIPC3 | Q8TF64 | 583 |
| OTOA | TMIE | Q8NEW7 | 582 |
| OTOA | TRIOBP | Q9H2D6 | 582 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| OTOA | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| TEDC1 | GMNN | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL2 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| PPM1M | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): OTOA (Affinity Capture-MS), OTOA (Affinity Capture-MS), OTOA (Affinity Capture-MS), OTOA (Affinity Capture-MS), OTOA (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), GALNT1 (Affinity Capture-MS), OTOA (Affinity Capture-MS), OTOA (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), HTATIP2 (Affinity Capture-MS), OTOA (Affinity Capture-MS), OTOA (Affinity Capture-MS), OTOA (Protein-peptide)
ESM2 similar proteins: A6NGW2, A6NHZ5, D3Z7H8, G7PWZ3, L5KLU7, O43157, O60486, Q03157, Q04912, Q0V8J4, Q13421, Q2HJE5, Q2PT31, Q3TYX2, Q3UH93, Q3V3V9, Q594P2, Q5EA85, Q5JZY3, Q61468, Q6F5E8, Q6MG64, Q6QNU9, Q76MJ5, Q7RTU9, Q7RTW8, Q7TN88, Q7TNJ2, Q7Z442, Q8BYG9, Q8C160, Q8C2S7, Q8CB67, Q8CJH3, Q8IUL8, Q8IZF5, Q8IZY2, Q8K4C2, Q8K561, Q8R2Q6
Diamond homologs: Q7RTW8, Q8K561, Q8VIM6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
796 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 57 |
| Likely pathogenic | 33 |
| Uncertain significance | 225 |
| Likely benign | 365 |
| Benign | 59 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1185107 | NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) | Pathogenic |
| 1192296 | NM_144672.4(OTOA):c.346C>T (p.Gln116Ter) | Pathogenic |
| 1194317 | NM_144672.4(OTOA):c.1221del (p.Glu408fs) | Pathogenic |
| 1360264 | NM_144672.4(OTOA):c.335del (p.Lys112fs) | Pathogenic |
| 1451127 | NM_144672.4(OTOA):c.877C>T (p.Gln293Ter) | Pathogenic |
| 1459527 | NC_000016.9:g.(?21689836)(21739772_?)del | Pathogenic |
| 164814 | NM_144672.3(OTOA):c.(?2302)(2431_?)del | Pathogenic |
| 164824 | NM_144672.4(OTOA):c.1688+1G>T | Pathogenic |
| 1803696 | NM_144672.4(OTOA):c.1537del (p.Ala513fs) | Pathogenic |
| 1803697 | NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter) | Pathogenic |
| 2092615 | NM_144672.4(OTOA):c.306del (p.Gln102fs) | Pathogenic |
| 2582944 | NM_144672.4(OTOA):c.400-2A>G | Pathogenic |
| 2637815 | NC_000016.9:g.(?21675288)(21772051_?)del | Pathogenic |
| 2693921 | NM_144672.4(OTOA):c.1501_1517del (p.Glu501fs) | Pathogenic |
| 2694053 | NM_144672.4(OTOA):c.556_559dup (p.Ser187fs) | Pathogenic |
| 2697333 | NM_144672.4(OTOA):c.124G>T (p.Glu42Ter) | Pathogenic |
| 2713897 | NM_144672.4(OTOA):c.1269G>A (p.Trp423Ter) | Pathogenic |
| 2743614 | NM_144672.4(OTOA):c.1462dup (p.Ala488fs) | Pathogenic |
| 2748699 | NM_144672.4(OTOA):c.826del (p.Ile276fs) | Pathogenic |
| 2751397 | NM_144672.4(OTOA):c.2069_2070del (p.Cys690fs) | Pathogenic |
| 2764599 | NM_144672.4(OTOA):c.1527_1530dup (p.Gln511fs) | Pathogenic |
| 2766019 | NM_144672.4(OTOA):c.2003del (p.Val668fs) | Pathogenic |
| 2775542 | NM_144672.4(OTOA):c.1950G>A (p.Trp650Ter) | Pathogenic |
| 2800906 | NM_144672.4(OTOA):c.71_72del (p.Thr24fs) | Pathogenic |
| 2820890 | NM_144672.4(OTOA):c.22_23del (p.Tyr8fs) | Pathogenic |
| 2829472 | NM_144672.4(OTOA):c.1610del (p.Lys537fs) | Pathogenic |
| 2841727 | NM_144672.4(OTOA):c.1810_1813del (p.Asn604fs) | Pathogenic |
| 2850166 | NM_144672.4(OTOA):c.746_747del (p.Ser249fs) | Pathogenic |
| 2852478 | NM_144672.4(OTOA):c.505del (p.Gln169fs) | Pathogenic |
| 2863063 | NM_144672.4(OTOA):c.2095del (p.Arg699fs) | Pathogenic |
SpliceAI
4001 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:21681733:T:A | acceptor_gain | 1.0000 |
| 16:21685202:ACC:A | acceptor_gain | 1.0000 |
| 16:21685203:C:G | acceptor_gain | 1.0000 |
| 16:21685204:C:A | acceptor_gain | 1.0000 |
| 16:21685214:A:AG | acceptor_gain | 1.0000 |
| 16:21685215:A:G | acceptor_gain | 1.0000 |
| 16:21685216:C:G | acceptor_gain | 1.0000 |
| 16:21685217:A:AG | acceptor_gain | 1.0000 |
| 16:21685218:C:G | acceptor_gain | 1.0000 |
| 16:21685223:A:G | acceptor_gain | 1.0000 |
| 16:21685226:A:AG | acceptor_gain | 1.0000 |
| 16:21685228:A:AC | acceptor_loss | 1.0000 |
| 16:21685228:A:AG | acceptor_gain | 1.0000 |
| 16:21685228:AG:A | acceptor_gain | 1.0000 |
| 16:21685229:G:GA | acceptor_gain | 1.0000 |
| 16:21685229:GG:G | acceptor_gain | 1.0000 |
| 16:21685229:GGC:G | acceptor_gain | 1.0000 |
| 16:21685229:GGCA:G | acceptor_gain | 1.0000 |
| 16:21685353:G:GT | donor_gain | 1.0000 |
| 16:21685357:GCTTG:G | donor_gain | 1.0000 |
| 16:21685359:TTGG:T | donor_loss | 1.0000 |
| 16:21685360:TGGT:T | donor_loss | 1.0000 |
| 16:21685361:GGT:G | donor_loss | 1.0000 |
| 16:21685363:T:A | donor_loss | 1.0000 |
| 16:21685393:G:GT | donor_gain | 1.0000 |
| 16:21687408:TTTAG:T | acceptor_loss | 1.0000 |
| 16:21687409:TTA:T | acceptor_loss | 1.0000 |
| 16:21687411:A:AG | acceptor_gain | 1.0000 |
| 16:21687411:AG:A | acceptor_gain | 1.0000 |
| 16:21687411:AGG:A | acceptor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000064445 (16:21758675 C>A), RS1000073696 (16:21707144 C>T), RS1000120868 (16:21719621 A>C,G,T), RS1000165816 (16:21676899 G>A), RS1000182669 (16:21720365 C>T), RS1000213672 (16:21679684 T>A,C), RS1000240433 (16:21686807 C>A,T), RS1000314491 (16:21686481 C>G,T), RS1000315038 (16:21669279 G>A,C,T), RS1000348962 (16:21686178 C>G), RS1000381634 (16:21727018 T>TG), RS1000390759 (16:21735249 G>A), RS1000513906 (16:21666664 G>A), RS1000533994 (16:21711957 A>C,G), RS1000597646 (16:21701189 A>G)
Disease associations
OMIM: gene MIM:607038 | disease phenotypes: MIM:607039, MIM:220290, MIM:607197, MIM:600974, MIM:276900, MIM:181500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nonsyndromic genetic hearing loss | Definitive | Autosomal recessive |
| autosomal recessive nonsyndromic hearing loss 22 | Definitive | 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 (8): autosomal recessive nonsyndromic hearing loss 22 (MONDO:0011762), hearing loss, autosomal recessive (MONDO:0019588), autosomal recessive nonsyndromic hearing loss 7 (MONDO:0010967), hearing loss disorder (MONDO:0005365), Usher syndrome (MONDO:0019501), schizophrenia (MONDO:0005090), autosomal recessive nonsyndromic hearing loss 1A (MONDO:0009076), nonsyndromic genetic hearing loss (MONDO:0019497)
Orphanet (6): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare genetic deafness (Orphanet:96210), Usher syndrome (Orphanet:886), Rare non-syndromic genetic deafness (Orphanet:87884), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
2 total (3 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0100753 | Schizophrenia |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005411_7 | Thrombin-activatable fibrinolysis inhibitor activation peptide | 5.000000e-07 |
MeSH disease descriptors (7)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D034381 | Hearing Loss | C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341 |
| D052245 | Usher Syndromes | C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886 |
| C564609 | Deafness, Autosomal Recessive (supp.) | |
| C567134 | Deafness, Autosomal Recessive 1A (supp.) | |
| C564633 | Deafness, Autosomal Recessive 22 (supp.) | |
| C563417 | Deafness, Autosomal Recessive 7 (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
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases mutagenesis | 4 |
| Aflatoxin B1 | increases expression, increases methylation | 3 |
| aristolochic acid I | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Endosulfan | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | increases expression | 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 |
Related Atlas pages
- Associated diseases: nonsyndromic genetic hearing loss, autosomal recessive nonsyndromic hearing loss 22, 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 1A, autosomal recessive nonsyndromic hearing loss 22, autosomal recessive nonsyndromic hearing loss 7, hearing loss disorder, hearing loss, autosomal recessive, nonsyndromic genetic hearing loss, Usher syndrome