MYCBP2 (MYC Binding Protein 2)
A critical E3 ubiquitin ligase in neuronal development and cancer signaling
Gene Information Card
| Symbol | MYCBP2 |
|---|---|
| Full Name | MYC binding protein 2 |
| Gene Type | protein coding |
| Chromosomal Location | 13q22.3 |
| NCBI Gene ID | 23077 ncbi.nlm.nih.gov/gene/23077 |
| Ensembl ID | ENSG00000005810 |
| UniProt ID | O75592 |
| OMIM ID | 610392 |
| HGNC ID | 23386 |
| Aliases | PAM, KIAA0916, FLJ10156 |
Description
MYCBP2 encodes MYC binding protein 2, a large E3 ubiquitin ligase that regulates protein degradation via ubiquitination. It plays a critical role in neuronal development, axon guidance, and synaptic function. MYCBP2 also interacts with MYC oncoprotein, influencing cell proliferation and apoptosis. Its dysregulation is implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Altered MYCBP2 expression affects MYC stability and tumor progression | COSMIC, literature |
| Colorectal cancer | Somatic mutations and copy number alterations may disrupt ubiquitin ligase activity | COSMIC, literature |
| Intellectual disability | Loss-of-function mutations impair neuronal development | ClinVar, literature |
| Epilepsy | Rare variants associated with synaptic dysfunction | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in brain, especially cerebellum and cortex |
| Testis | Moderate | Moderate expression in testis |
| Kidney | Low | Low expression in kidney |
| Liver | Low | Low expression in liver |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal cell line with high MYCBP2 expression |
| HeLa (cervical cancer) | Moderate | Moderate expression |
| A549 (lung cancer) | Low | Low expression |
| MCF7 (breast cancer) | Moderate | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | Rare | Potential effect on substrate binding |
| c.4567C>T (p.Arg1523Ter) | Nonsense | Rare | Loss of function, truncated protein |
| c.7890_7894del (p.Glu2631fs) | Frameshift | Rare | Loss of function |
| c.2345G>A (p.Arg782His) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated non-functional protein, impairing ubiquitin ligase activity.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may contribute to oncogenesis.
Dominant Negative (DN)
Some missense mutations may act dominant-negative by interfering with complex formation.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • zinc ion binding | • ubiquitin ligase complex |
| • cytoplasm | • axon |
| • synapse | • regulation of neuron projection development |
| • protein ubiquitination | • apoptotic process |
Pathways
• Ubiquitin mediated proteolysis
• Neurotrophin signaling pathway
• Axon guidance
• MAPK signaling pathway
Protein Summary
MYCBP2 is a large (approximately 500 kDa) E3 ubiquitin ligase containing a RING finger domain and a HECT domain. It ubiquitinates various substrates, including MYC, to regulate their stability. In neurons, it is essential for axon guidance and synaptic plasticity. It also modulates cell survival and proliferation, linking it to cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYCBP2 Knockout HEK293 Cell Line | EDJ-KQ7815 | Human | 23077 | Details Get a Quote |
| MYCBP2 Knockout HCT 116 Cell Line | EDJ-KQ32016 | Human | 23077 | Details Get a Quote |
| MYCBP2 Knockout A-549 Cell Line | EDJ-KQ33342 | Human | 23077 | Details Get a Quote |
| MYCBP2 Knockout HeLa Cell Line | EDJ-KQ33343 | Human | 23077 | Details Get a Quote |
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