MYCN Gene - N-myc Proto-Oncogene, bHLH Transcription Factor
Key regulator of neuroblastoma, neuronal development, and MYC family oncogene
Gene Information Card
| Symbol | MYCN |
|---|---|
| Full Name | MYCN proto-oncogene, bHLH transcription factor |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.3 |
| NCBI Gene ID | 4613 ncbi.nlm.nih.gov/gene/4613 |
| Ensembl ID | ENSG00000134323 |
| UniProt ID | P04198 |
| OMIM ID | 164840 |
| HGNC ID | 7559 |
| Aliases | N-myc, MODED, bHLHe37, NMYC |
Description
MYCN (MYCN proto-oncogene, bHLH transcription factor) is a member of the MYC family of basic helix-loop-helix (bHLH) transcription factors. It regulates cell proliferation, differentiation, and apoptosis. MYCN is essential for normal embryonic development, particularly of the nervous system. Amplification or overexpression of MYCN is a hallmark of high-risk neuroblastoma and is associated with poor prognosis. MYCN also plays roles in medulloblastoma, rhabdomyosarcoma, and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | MYCN amplification drives tumorigenesis by promoting proliferation and blocking differentiation | ClinVar, COSMIC, OMIM |
| Medulloblastoma | MYCN amplification or overexpression contributes to Sonic Hedgehog subgroup tumor growth | COSMIC, PubMed |
| Rhabdomyosarcoma | MYCN amplification associated with alveolar subtype and aggressive disease | COSMIC, PubMed |
| Feingold syndrome | Heterozygous loss-of-function mutations in MYCN cause autosomal dominant Feingold syndrome | OMIM, ClinVar |
| Breast cancer | MYCN overexpression linked to poor prognosis and endocrine therapy resistance | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.3 | Low |
| Cerebellum | 0.2 | Low |
| Adrenal gland | 0.1 | Low |
| Lymph node | 0.1 | Low |
| Bone marrow | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-N-BE(2) (neuroblastoma) | High | MYCN amplified cell line |
| IMR-32 (neuroblastoma) | High | MYCN amplified cell line |
| Kelly (neuroblastoma) | High | MYCN amplified cell line |
| SH-SY5Y (neuroblastoma) | Low | Non-amplified cell line |
| HEK293 (embryonic kidney) | Low | Non-cancerous cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| MYCN amplification | Copy number gain | ~20% of neuroblastomas | Oncogenic driver; high-level amplification (>4-fold) associated with poor prognosis |
| p.Pro44Leu | Missense | Rare | Gain-of-function; enhances MYCN stability and activity |
| p.Arg47His | Missense | Rare | Gain-of-function; increased transcriptional activity |
| p.Thr58Ala | Missense | Rare | Gain-of-function; impairs phosphorylation and degradation |
| p.Ser62Ala | Missense | Rare | Gain-of-function; alters phosphorylation dynamics |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift, nonsense) in MYCN cause Feingold syndrome, characterized by microcephaly, esophageal atresia, and limb anomalies.
Gain of Function (GOF)
Gain-of-function mutations (e.g., amplification, missense at Thr58, Ser62) enhance MYCN stability, transcriptional activity, and oncogenic potential in neuroblastoma and other cancers.
Dominant Negative (DN)
Dominant-negative effects are not well-documented for MYCN; most pathogenic variants are either loss-of-function (haploinsufficiency) or gain-of-function (amplification/missense).
View complete mutation data：
Gene Ontology (GO)
Pathways
• MYC transcriptional activation (Reactome: R-HSA-9616222)
• Transcriptional regulation by MYC (Reactome: R-HSA-9616222)
• Signaling by WNT (Reactome: R-HSA-195721)
• Cell cycle (KEGG: hsa04110)
• p53 signaling pathway (KEGG: hsa04115)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
The MYCN protein (N-myc) is a 464-amino acid transcription factor containing a basic helix-loop-helix (bHLH) domain and a leucine zipper motif. It heterodimerizes with MAX to bind E-box sequences (CACGTG) and regulate target genes involved in cell cycle progression, growth, metabolism, and differentiation. MYCN is tightly regulated by phosphorylation, ubiquitination, and degradation. In cancer, MYCN amplification leads to sustained oncogenic signaling, evasion of apoptosis, and blockade of differentiation, particularly in neuroblastoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYCN Knockout HEK293 Cell Line | EDJ-KQ3843 | Human | 4613 | Details Get a Quote |
| MYCN Knockout HeLa Cell Line | EDJ-KQ53934 | Human | 4613 | Details Get a Quote |
| MYCN Knockout A-549 Cell Line | EDJ-KQ62427 | Human | 4613 | Details Get a Quote |
| MYCN Knockout HCT 116 Cell Line | EDJ-KQ70894 | Human | 4613 | Details Get a Quote |
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