TMC8 Gene Summary [Human]
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TMC8 |
| Official Name | transmembrane channel like 8 [Source:HGNC Symbol;Acc:HGNC:20474] |
| Ensembl ID | ENSG00000167895 |
| Bio databases IDs | |
| Aliases | transmembrane channel like 8 |
| Synonyms | EV2, EVER2, EVIN2, mFLJ00400, transmembrane channel-like 8, transmembrane channel-like gene family 8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMC8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Calcium-activated chloride channel
- cytokine binding
- protein binding
- transmembrane channel domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epidermodysplasia verruciformis
- diabetic nephropathy
- organismal death
- susceptibility to epidermodysplasia verruciformis type 2
- susceptibility to epidermodysplasia verruciformis type 1
- diabetes mellitus
- hemolysis
- cervical intraepithelial neoplasia
role in cell
- expression in
- apoptosis
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- Endoplasmic Reticulum
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMC8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transmembrane transport
- cellular zinc ion homeostasis
- negative regulation of protein complex assembly
- negative regulation of protein binding
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular space
- nuclear membrane
- extracellular vesicular exosome
- cytoplasm
- endoplasmic reticulum
- Golgi apparatus
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- mechanically-gated ion channel activity
- protein binding
- tumor necrosis factor binding