Sterol regulatory element-binding protein 2 (SREBF2) is a transcription factor that controls cholesterol homeostasis by stimulating the transcription of sterol-regulated genes . Encoded by the SREBF2 gene, this protein contains a basic helix-loop-helix leucine zipper (bHLH-Zip) domain . SREBF2 regulates genes related to the cholesterol synthesis pathway .
The SREBF2 gene, also known as sterol regulatory element-binding transcription factor 2, is found in humans and Cricetulus griseus (Chinese hamster) . The protein it encodes is a ubiquitously expressed transcription factor . SREBF2 plays a crucial role in maintaining cholesterol homeostasis . It achieves this by binding to the sterol regulatory element 1 (SRE-1) motif and activating the transcription of genes involved in cholesterol biosynthesis .
SREBF2 interacts with INSIG1 and the CREB-binding protein . The SREBF2 gene is associated with diseases such as adrenoleukodystrophy and familial hypercholesterolemia .
SRBP2
HGNC: 11290
NCBI Gene: 6721
Ensembl: ENSG00000198911
OMIM®: 600481
UniProtKB/Swiss-Prot: Q12772
SREBF2 is synthesized as a precursor protein embedded in the endoplasmic reticulum membrane . Low sterol concentrations trigger the processing of SREBF2, releasing a transcription factor that translocates to the nucleus . This transcription factor then activates the transcription of genes involved in cholesterol biosynthesis .
Single nucleotide polymorphisms (SNPs) in the SREBF2 gene have been linked to an increased risk of knee osteoarthritis . Furthermore, SREBF2 has been identified as a predictor of incident nonalcoholic fatty liver disease (NAFLD) and diabetes . In colon cancer, SREBF2 regulates lipid metabolism genes, influencing tumor development and patient outcomes .
In colon cancer, SREBF2 regulates lipid metabolism genes, influencing tumor development and patient outcomes . Studies using machine learning algorithms have identified key genes associated with SREBF2 in colon cancer, including DHCR7, HSD11B2, and RGL1 . High DHCR7 expression is related to poor prognosis in colon cancer .
SREBF2 has been shown to interact with :
INSIG1
CREB-binding protein
KEGG: cge:100689017