MYCN Gene Summary [Human]
This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | MYCN |
| Official Name | MYCN proto-oncogene, bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:7559] |
| Ensembl ID | ENSG00000134323 |
| Bio databases IDs | |
| Aliases | MYCN proto-oncogene, bHLH transcription factor |
| Synonyms | bHLHe37, c-nmyc, FGLDS1, MODED, MPAPA, MYCN proto-oncogene, bHLH transcription factor, MYCNsORF, MYCNsPEP, Nmuc1, NMYC, NMYC1, ODED, v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived |
| 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 MYCN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- DNA binding domain
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- nuclear localization sequence
- transcription activation domain
- central domain
- leucine zipper domain
- Myc amino-terminal region
- protein binding
- sequence-specific DNA binding
- acidic domain
- DNA binding
- phosphorylation site
- Myc box II
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- kinase binding
- double-stranded DNA binding
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the MYCN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- single ventricle defect
- congestive heart failure
- cancer
- edema
- acute myeloid leukemia
- bleeding
- skin basal cell carcinoma
- basal cell skin cancer
- hyperplasia
role in cell
- cell viability
- proliferation
- growth
- expression in
- invasion
- activation in
- degradation in
- cell death
- number
- apoptosis
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
- Cytoplasm
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYCN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of gene expression
- positive regulation of transcription, DNA-dependent
- positive regulation of gene expression
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- kinase binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity