NRBF2: Nuclear Receptor Binding Factor 2
A key regulator of autophagy and nuclear receptor signaling
Gene Information Card
| Symbol | NRBF2 |
|---|---|
| Full Name | Nuclear Receptor Binding Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 29982 ncbi.nlm.nih.gov/gene/29982 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q96F24 |
| OMIM ID | 609264 |
| HGNC ID | 19686 |
| Aliases | COPR, COPR1, NRBF-2, ATG17L2 |
Description
NRBF2 (Nuclear Receptor Binding Factor 2) encodes a protein that functions as a component of the phosphatidylinositol 3-kinase (PI3K) complex involved in autophagy. It interacts with nuclear receptors and modulates transcription. NRBF2 is essential for autophagosome formation and has been implicated in cancer, neurodegenerative diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NRBF2 overexpression promotes autophagy and tumor survival | PMID: 25643323 |
| Colorectal cancer | NRBF2 loss reduces autophagy and increases chemosensitivity | PMID: 31073040 |
| Parkinson's disease | NRBF2 variants impair autophagy and increase alpha-synuclein accumulation | PMID: 29395067 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Moderate expression |
| MCF7 | 22.1 | High expression |
| SH-SY5Y | 16.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.214C>T | Nonsense | <0.01% | Loss of function |
| c.487G>A | Missense | 0.02% | Reduced autophagy |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) lead to truncated protein and impaired autophagy.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may confer gain-of-function in autophagy.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy (GO:0006914) | • pre-autophagosomal structure membrane (GO:0034045) |
| • transcription coactivator activity (GO:0003713) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) |
Pathways
• Autophagy - PIK3C3/VPS34 complex
• mTOR signaling
• NRF2-mediated oxidative stress response
Protein Summary
NRBF2 is a 286-amino acid protein that contains a coiled-coil domain and a nuclear receptor interaction motif. It acts as a scaffold in the PIK3C3/VPS34 complex, promoting autophagosome nucleation. NRBF2 also shuttles to the nucleus to coactivate nuclear receptors such as PPARγ and RXR, linking autophagy with transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRBF2 Knockout HEK293 Cell Line | EDJ-KQ51249 | Human | 29982 | Details Get a Quote |
| NRBF2 Knockout HeLa Cell Line | EDJ-KQ56136 | Human | 29982 | Details Get a Quote |
| NRBF2 Knockout A-549 Cell Line | EDJ-KQ64623 | Human | 29982 | Details Get a Quote |
| NRBF2 Knockout HCT 116 Cell Line | EDJ-KQ73075 | Human | 29982 | Details Get a Quote |
