TMC6 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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
TMC6
Official Name
transmembrane channel like 6 [Source:HGNC Symbol;Acc:HGNC:18021]
Ensembl ID
ENSG00000141524
Bio databases IDs NCBI: 11322 Ensembl: ENSG00000141524
Aliases transmembrane channel like 6
Synonyms AABR07030861.1, D11Ertd204e, EV1, EVER1, EVIN1, LAK-4P, lnc, Loc217353, TNRC6C-AS1, transmembrane channel like 6, transmembrane channel-like gene family 6
Species
Human, Homo sapiens
OrthologiesMouse

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 TMC6 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
  • protein binding
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • diabetes mellitus
  • metastasis
  • non-insulin-dependent diabetes mellitus
  • epidermodysplasia verruciformis
  • susceptibility to epidermodysplasia verruciformis type 1
  • cervical intraepithelial neoplasia
regulated by
regulates
role in cell
  • expression in
  • growth
  • morphology

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
  • Plasma Membrane
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • tertiary granule membrane
  • specific granule membrane
  • endoplasmic reticulum membrane
  • nuclear envelope

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TMC6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • ion transmembrane transport

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • nuclear membrane
  • extracellular vesicular exosome
  • cytoplasm
  • endoplasmic reticulum
  • Golgi apparatus
  • plasma membrane
  • tertiary granule membrane
  • specific granule membrane

Molecular Function

What the gene product does at the molecular level
  • mechanically-gated ion channel activity
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.