OTOP3: Otoperlin 3 – A Candidate Gene for Auditory and Vestibular Function
Comprehensive genomic and proteomic overview of OTOP3, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | OTOP3 |
|---|---|
| Full Name | otoperlin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 347744 ncbi.nlm.nih.gov/gene/347744 |
| Ensembl ID | ENSG00000187601 |
| UniProt ID | Q7Z2M2 |
| OMIM ID | 617205 |
| HGNC ID | 33810 |
| Aliases | MGC16384, FLJ32743 |
Description
OTOP3 (otoperlin 3) is a protein-coding gene belonging to the otoperlin family. The encoded protein is predicted to be a transmembrane protein involved in mechanotransduction, particularly in auditory and vestibular hair cells. OTOP3 is expressed in the inner ear and other tissues, and its dysfunction may contribute to hearing and balance disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing loss, autosomal recessive | Loss of OTOP3 function disrupts hair cell mechanotransduction | ClinVar, OMIM |
| Vestibular dysfunction | Impaired otolith organ function due to OTOP3 mutation | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Inner ear (cochlea) | 12.5 | High |
| Testis | 3.2 | Medium |
| Kidney | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| K562 | 0.2 | Very low |
| Hair cell line (HEI-OC1) | 15.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% | Unknown effect |
| c.452G>A (p.Arg151His) | Missense | 0.002% | Likely damaging (in silico) |
| c.789delC | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause protein truncation or nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function variants reported for OTOP3.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • integral component of membrane (GO:0016021) |
| • sensory perception of sound (GO:0007605) | • equilibrioception (GO:0050957) |
Pathways
• Mechanotransduction in hair cells (Reactome: R-HSA-9662360)
Protein Summary
OTOP3 encodes a 447-amino acid transmembrane protein with multiple predicted helices. It is structurally related to otoperlin 1 and 2, and is thought to form ion channels or mechanosensitive pores in hair cell stereocilia. The protein is highly expressed in the inner ear and is essential for normal hearing and balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTOP3 Knockout HEK293 Cell Line | EDJ-KQ14642 | Human | 347741 | Details Get a Quote |
| OTOP3 Knockout HeLa Cell Line | EDJ-KQ59828 | Human | 347741 | Details Get a Quote |
| OTOP3 Knockout A-549 Cell Line | EDJ-KQ68295 | Human | 347741 | Details Get a Quote |
| OTOP3 Knockout HCT 116 Cell Line | EDJ-KQ76669 | Human | 347741 | Details Get a Quote |
