SREBF2
Sterol Regulatory Element Binding Transcription Factor 2
Gene Information Card
| Symbol | SREBF2 |
|---|---|
| Full Name | Sterol Regulatory Element Binding Transcription Factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 6721 ncbi.nlm.nih.gov/gene/6721 |
| Ensembl ID | ENSG00000198911 |
| UniProt ID | Q12772 |
| OMIM ID | 600481 |
| HGNC ID | 11290 |
| Aliases | SREBP2, bHLHd2, SREBP-2 |
Description
SREBF2 encodes sterol regulatory element-binding protein 2 (SREBP-2), a basic helix-loop-helix leucine zipper transcription factor that regulates cholesterol homeostasis by activating genes involved in cholesterol biosynthesis and uptake. It is synthesized as a precursor bound to the endoplasmic reticulum and is proteolytically cleaved in response to low sterol levels, allowing nuclear translocation and target gene activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial Hypercholesterolemia | Gain-of-function variants increase SREBP-2 activity, leading to elevated LDL receptor expression and cholesterol synthesis | ClinVar |
| Nonalcoholic Fatty Liver Disease | Dysregulation of SREBP-2 contributes to hepatic lipid accumulation | NCBI Gene |
| Atherosclerosis | SREBP-2-mediated upregulation of cholesterol synthesis and uptake promotes plaque formation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal Gland | 8.3 | Medium |
| Small Intestine | 6.1 | Medium |
| Kidney | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HeLa | 7.8 | Cervical adenocarcinoma cell line |
| A549 | 5.4 | Lung carcinoma cell line |
| K562 | 3.1 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1780G>A (p.Gly594Arg) | Missense | 0.01% | Gain-of-function; increased nuclear SREBP-2 activity |
| c.1123C>T (p.Arg375Trp) | Missense | 0.005% | Loss-of-function; reduced transcriptional activity |
| c.2014_2015del (p.Leu672fs) | Frameshift | 0.001% | Loss-of-function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Reduced SREBP-2 activity impairs cholesterol biosynthesis and uptake, potentially causing hypocholesterolemia.
Gain of Function (GOF)
Increased SREBP-2 activity elevates cholesterol synthesis and LDL receptor expression, contributing to hypercholesterolemia.
Dominant Negative (DN)
Not reported for SREBF2.
View complete mutation data：
Gene Ontology (GO)
| • transcription cis-regulatory region binding | • DNA-binding transcription factor activity |
| • RNA polymerase II-specific | • sterol response element binding |
| • cholesterol homeostasis | • lipid metabolic process |
| • positive regulation of transcription by RNA polymerase II | • endoplasmic reticulum membrane |
| • nucleus |
Pathways
• Cholesterol biosynthesis
• Sterol regulatory element-binding protein (SREBP) signaling
• Metabolism of lipids and lipoproteins
Protein Summary
SREBP-2 is a 1141-amino acid protein that functions as a master regulator of cholesterol homeostasis. It contains an N-terminal transcription activation domain, a basic helix-loop-helix leucine zipper (bHLH-LZ) DNA-binding domain, and a C-terminal regulatory domain that retains it in the ER. Upon sterol depletion, SREBP-2 is transported to the Golgi and cleaved by site-1 and site-2 proteases, releasing the mature N-terminal fragment that translocates to the nucleus and activates genes such as HMGCR, LDLR, and SQLE.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SREBF2 Knockout HEK293 Cell Line | EDJ-KQ1125 | Human | 6721 | Details Get a Quote |
| SREBF2 Knockout A-549 Cell Line | EDJ-KQ20321 | Human | 6721 | Details Get a Quote |
| SREBF2 Knockout HCT 116 Cell Line | EDJ-KQ20322 | Human | 6721 | Details Get a Quote |
| SREBF2 Knockout HeLa Cell Line | EDJ-KQ20323 | Human | 6721 | Details Get a Quote |
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