TM6SF2 Gene Summary [Human]
Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | TM6SF2 |
| Official Name | transmembrane 6 superfamily member 2 [Source:HGNC Symbol;Acc:HGNC:11861] |
| Ensembl ID | ENSG00000213996 |
| Bio databases IDs | |
| Aliases | transmembrane 6 superfamily member 2 |
| Synonyms | LOC684448, transmembrane 6 superfamily member 2 |
| 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 TM6SF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transmembrane 6 superfamily member 1, member 2, and similar proteins
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- epithelial cancer
- hyperlipidemia
- liver disease
- metabolic disorder
- hypercholesterolemia
- liver cancer
- hypocholesterolemia
- non-insulin-dependent diabetes mellitus
- primary genetic hyperlipidemia
regulates
- cholesterol
- triacylglycerol
- very low density lipoprotein (VLDL)
- lipid
role in cell
- accumulation in
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TM6SF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid homeostasis
- lipid metabolic process
- regulation of lipid metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding