SREBF2 Gene Summary [Human]
This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | SREBF2 |
| Official Name | sterol regulatory element binding transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:11290] |
| Ensembl ID | ENSG00000198911 |
| Bio databases IDs | |
| Aliases | sterol regulatory element binding transcription factor 2, Sterol regulatory element-binding protein 2 |
| Synonyms | bHLHd2, lop13, nuc, RGD:728903, Srebf2 retired, SREBP-2, sterol regulatory element binding factor 2, STEROL REGULATORY ELEMENT binding protein 2, sterol regulatory element binding transcription factor 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 SREBF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- regulatory domain
- Site-1 protease recognition sequence
- DNA binding domain
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription activation domain
- leucine zipper domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- zDHHC ankyrin repeat binding domain
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- N-terminal transactivation domain
- basic helix-loop-helix-leucine zipper domain
- double-stranded DNA binding
- transmembrane domain
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the SREBF2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypothyroidism
- Crohn disease
- neuroinflammation
- breast cancer
- Alzheimer disease
- primary biliary cirrhosis
- amyotrophic lateral sclerosis
- nutritionally induced type 2 diabetes
- hyperplasia
- schizophrenia
role in cell
- production in
- apoptosis
- expression in
- invasion by
- phosphorylation in
- survival
- growth
- synthesis in
- damage
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- intracellular membrane-bounded organelle
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- Golgi membrane
- nucleoplasm
- chromatin
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SREBF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of Notch signaling pathway
- cholesterol metabolic process
- positive regulation of cholesterol biosynthetic process
- cellular response to starvation
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of cholesterol efflux
- cholesterol homeostasis
- negative regulation of transcription from RNA polymerase II promoter
- SREBP-mediated signaling pathway
- lipid metabolic process
- positive regulation of cholesterol storage
- cellular response to laminar fluid shear stress
- cellular response to low-density lipoprotein particle stimulus
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- cytoplasm
- SREBP-SCAP-Insig complex
- intracellular membrane-bounded organelle
- ER to Golgi transport vesicle membrane
- cytosol
- Golgi membrane
- endoplasmic reticulum
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- C-8 sterol isomerase activity
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity