MYCBP2 Gene Summary [Human]
This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]
Details
| Type | Protein Coding |
| Official Symbol | MYCBP2 |
| Official Name | MYC binding protein 2 [Source:HGNC Symbol;Acc:HGNC:23386] |
| Ensembl ID | ENSG00000005810 |
| Bio databases IDs | |
| Aliases | MYC binding protein 2, PAM/Highwire/RPM-1 protein 1 |
| Synonyms | AI316865, C130061D10Rik, Hs.151411, KIAA0916, LOC100910161, LOC108352957, MYC binding protein 2, MYC binding protein 2, E3 ubiquitin protein ligase, PAM, Pamyc, Phr, PHR1 |
| 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 MYCBP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Regulator of chromosome condensation (RCC1) repeat
- PHR domain
- ubiquitin protein ligase activity
- chromosome condensation 1-like domain
- Bacterial SH3 domain
- enzyme binding
- enzyme
- Ring finger domain
- protein binding
- identical protein binding
- B-box-type zinc finger superfamily
- zinc ion binding
- guanyl-nucleotide exchange factor
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glioblastoma cancer
- rheumatoid arthritis
- glioblastoma
- thermal hyperalgesia
- Hutchinson-Gilford progeria syndrome
- preeclampsia
role in cell
- internalization by
- organization
- abnormal morphology
- guidance
- desensitization
- loss
- morphogenesis
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
- microtubule cytoskeleton
- intracellular membrane-bounded organelle
- Endoplasmic Reticulum
- cytosol
- trans Golgi network
- nucleoplasm
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYCBP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein K48-linked ubiquitination
- regulation of protein localization
- regulation of synaptic growth at neuromuscular junction
- neuromuscular process
- axon guidance
- negative regulation of protein catabolic process
- central nervous system projection neuron axonogenesis
- branchiomotor neuron axon guidance
- circadian regulation of gene expression
- regulation of cytoskeleton organization
- positive regulation of protein ubiquitination
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- microtubule cytoskeleton
- cytoplasm
- intracellular membrane-bounded organelle
- membrane
- cytosol
- axon
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- identical protein binding
- protein binding
- guanyl-nucleotide exchange factor activity
- small GTPase binding