TMC4: Transmembrane Channel-Like 4
A gene encoding a member of the transmembrane channel-like protein family, involved in mechanosensation and ion transport.
Gene Information Card
| Symbol | TMC4 |
|---|---|
| Full Name | Transmembrane Channel-Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 147798 ncbi.nlm.nih.gov/gene/147798 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q8N3G9 |
| OMIM ID | 617502 |
| HGNC ID | 28891 |
| Aliases | FLJ32731, MGC138290 |
Description
TMC4 (Transmembrane Channel-Like 4) is a protein-coding gene located on chromosome 19q13.33. It belongs to the TMC family of transmembrane proteins, which are implicated in mechanosensory transduction and ion channel function. TMC4 is expressed in various tissues, including the brain, kidney, and testis, and may play a role in cellular ion homeostasis and sensory perception.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive | Potential involvement in auditory mechanotransduction; TMC family members are associated with hearing loss. | Inferred from family homology (TMC1, TMC2); limited direct evidence for TMC4. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Kidney | 3.8 | Low |
| Testis | 2.1 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; predicted possibly damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TMC4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TMC4.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity (GO:0005254) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• No specific pathways curated for TMC4 in major databases.
Protein Summary
The TMC4 protein is a multi-pass transmembrane protein predicted to function as an ion channel or modulator of ion channels. It shares structural homology with TMC1 and TMC2, which are essential for mechanotransduction in hair cells of the inner ear. TMC4 is localized to the plasma membrane and may contribute to chloride ion transport, though its precise physiological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMC4 Knockout HEK293 Cell Line | EDJ-KQ10671 | Human | 147798 | Details Get a Quote |
| TMC4 Knockout A-549 Cell Line | EDJ-KQ38196 | Human | 147798 | Details Get a Quote |
| TMC4 Knockout HeLa Cell Line | EDJ-KQ38197 | Human | 147798 | Details Get a Quote |
| TMC4 Knockout HCT 116 Cell Line | EDJ-KQ36893 | Human | 147798 | Details Get a Quote |
