TMC2 Gene - Transmembrane Channel-Like 2
Key player in auditory mechanotransduction and hair cell function
Gene Information Card
| Symbol | TMC2 |
|---|---|
| Full Name | Transmembrane Channel-Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 117532 ncbi.nlm.nih.gov/gene/117532 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8TDI7 |
| OMIM ID | 606707 |
| HGNC ID | 18183 |
| Aliases | C20orf145, dJ486L4.2 |
Description
TMC2 (Transmembrane Channel-Like 2) is a protein-coding gene that encodes a member of the transmembrane channel-like protein family. It is essential for mechanotransduction in auditory hair cells, where it forms part of the mechanosensitive ion channel complex required for hearing. TMC2 is expressed in the inner ear and is involved in the conversion of mechanical sound waves into electrical signals. Mutations in TMC2 are associated with autosomal recessive deafness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive 7 (DFNB7) | Loss-of-function mutations in TMC2 disrupt mechanotransduction in cochlear hair cells, leading to sensorineural hearing loss. | ClinVar, OMIM |
| Deafness, autosomal dominant 36 (DFNA36) | Dominant mutations may alter channel function or assembly, causing progressive hearing loss. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High |
| Testis | Not available | Moderate |
| Brain | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used for heterologous expression studies |
| Hair cells (inner ear) | Not available | Native expression; critical for function |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1253G>A (p.Arg418His) | Missense | Rare | Alters channel conductance; associated with deafness |
| c.1714C>T (p.Arg572*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing recessive deafness.
Gain of Function (GOF)
Not well documented; some missense variants may alter channel properties.
Dominant Negative (DN)
Dominant mutations may interfere with wild-type TMC2 or TMC1 function in heteromeric channels.
View complete mutation data：
Gene Ontology (GO)
| • mechanosensitive ion channel activity | • calcium ion transport |
| • sensory perception of sound | • plasma membrane |
| • hair cell mechanotransduction |
Pathways
• Mechanotransduction in auditory hair cells
• Ion channel transport
Protein Summary
TMC2 is a multi-pass transmembrane protein that localizes to the stereocilia of inner ear hair cells. It functions as a pore-forming subunit of the mechanotransduction channel, likely forming heteromeric complexes with TMC1. The protein is essential for converting mechanical stimuli into ionic currents, enabling hearing. Its structure includes transmembrane domains and a conserved region critical for channel gating.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMC2 Knockout HEK293 Cell Line | EDJ-KQ7608 | Human | 117532 | Details Get a Quote |
| TMC2 Knockout HeLa Cell Line | EDJ-KQ58019 | Human | 117532 | Details Get a Quote |
| TMC2 Knockout A-549 Cell Line | EDJ-KQ66506 | Human | 117532 | Details Get a Quote |
| TMC2 Knockout HCT 116 Cell Line | EDJ-KQ74925 | Human | 117532 | Details Get a Quote |
