INSIG2 Gene Summary [Human]
The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | INSIG2 |
| Official Name | insulin induced gene 2 [Source:HGNC Symbol;Acc:HGNC:20452] |
| Ensembl ID | ENSG00000125629 |
| Bio databases IDs | |
| Aliases | insulin induced gene 2 |
| Synonyms | 2900053I11Rik, C730043J18Rik, insulin induced gene 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 INSIG2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- oxysterol binding
- Insulin-induced protein (INSIG)
- 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
- cleft palate syndrome
- gout
- hepatic steatosis
- runting
- cleft face
- lipidosis
- hyperlipidemia
- metabolic disorder
- hypercholesterolemia
role in cell
- expression in
- activation in
- degradation in
- invasion by
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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human INSIG2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to insulin stimulus
- negative regulation of fatty acid biosynthetic process
- cranial suture morphogenesis
- SREBP-mediated signaling pathway
- palate development
- inner ear morphogenesis
- cholesterol biosynthetic process
- middle ear morphogenesis
- triglyceride metabolic process
- negative regulation of steroid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- SREBP-SCAP-Insig complex
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- oxysterol binding