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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MYCN
MYCN proto-oncogene, bHLH transcription factor
Chromosome 2 Β· 2p24.3
NCBI Gene: 4613Ensembl: ENSG00000134323.13HGNC: HGNC:7559UniProt: A0A1W2PPD9
511PubMed Papers
22Diseases
0Drugs
72Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedOncogeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingpositive regulation of gene expressionDNA-binding transcription activator activity, RNA polymerase II-specificnucleusFeingold syndrome type 1megalencephaly-polydactyly syndromebasal cell carcinomaneurodegenerative disease
✦AI Summary

MYCN is a bHLH transcription factor that functions as a master regulator of oncogenic gene expression, particularly in neural crest-derived cancers. As a sequence-specific DNA-binding transcription factor, MYCN heterodimerizes with MAX protein to activate promoters of genes involved in ribosome biogenesis, protein synthesis, and cell proliferation, while simultaneously repressing neuronal differentiation genes 1. Beyond canonical transcriptional activation, MYCN possesses RNA-binding capacity through its conserved MYCBoxI domain, enabling association with the nuclear exosome and intronic transcripts to regulate RNA metabolism and influence cell cycle progression 2. MYCN amplification occurs in approximately 25% of neuroblastomas and represents the most robust genetic marker of high-risk disease and poor prognosis 3. MYCN-driven oncogenesis extends beyond neuroblastoma to aggressive retinoblastoma subtypes, where it promotes de-differentiation and activates MYC/E2F and mTORC1 signaling pathways 4. MYCN also functions in neuroendocrine prostate cancer through a positive feedback loop with the RNA-binding protein ELAVL3 5. Therapeutic strategies targeting MYCN include disrupting its recruitment of the super elongation complex, inhibiting eIF4A1-mediated translation of MYCN mRNA via its 5' UTR, and combining WDR5 and G9a inhibitors to simultaneously block MYCN's transcriptional activation and repression functions 6, 7, 1.

Sources cited
1
MYCN amplification occurs in ~25% of neuroblastomas and correlates with high-risk disease and poor prognosis
PMID: 24086065
2
MYCN binds RNA through MYCBoxI domain, associates with nuclear exosome and intronic transcripts, and regulates cell cycle progression
PMID: 38703770
3
MYCN cooperates with WDR5 and G9a to orchestrate global gene transcription, activating ribosome biogenesis genes and repressing differentiation genes
PMID: 38547242
4
MYCN amplification drives aggressive retinoblastoma through MYC/E2F and mTORC1 pathway activation
PMID: 40943594
5
MYCN functions in neuroendocrine prostate cancer through a feedback loop with ELAVL3
PMID: 38016952
6
MYCN recruits the super elongation complex to enhance transcription elongation and represents a therapeutic vulnerability
PMID: 36989355
7
MYCN translation dependence on eIF4A1 and its 5' UTR structure represents a therapeutic target
PMID: 38662542
Disease Associationsβ“˜22
Feingold syndrome type 1Open Targets
0.81Strong
megalencephaly-polydactyly syndromeOpen Targets
0.66Moderate
basal cell carcinomaOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.52Moderate
prostate carcinomaOpen Targets
0.46Moderate
Feingold syndromeOpen Targets
0.46Moderate
non-melanoma skin carcinomaOpen Targets
0.41Moderate
melanomaOpen Targets
0.38Weak
skin basal cell carcinomaOpen Targets
0.38Weak
cutaneous melanomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
kidney Wilms tumorOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
skin cancerOpen Targets
0.36Weak
skin neoplasmOpen Targets
0.35Weak
non-small cell lung carcinomaOpen Targets
0.34Weak
ovarian neoplasmOpen Targets
0.33Weak
neurotic disorderOpen Targets
0.33Weak
Feingold syndrome 1UniProt
Megalencephaly-polydactyly syndromeUniProt
Pathogenic Variants72
NM_005378.6(MYCN):c.1181G>A (p.Arg394His)Pathogenic
Feingold syndrome type 1|Feingold syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 394
NM_005378.6(MYCN):c.134dup (p.Glu47fs)Pathogenic
not provided|Feingold syndrome type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_005378.6(MYCN):c.403C>T (p.Gln135Ter)Pathogenic
Feingold syndrome type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 135
NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter)Pathogenic
not provided|Feingold syndrome type 1|Megalencephaly-polydactyly syndrome;Feingold syndrome type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 373
NM_005378.6(MYCN):c.134del (p.Pro45fs)Pathogenic
not provided|Feingold syndrome type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 45
NM_005378.6(MYCN):c.1178G>A (p.Arg393His)Pathogenic
Feingold syndrome type 1|not provided|Feingold syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 393
NM_005378.6(MYCN):c.1177C>T (p.Arg393Cys)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 393
NM_005378.6(MYCN):c.964C>T (p.Arg322Ter)Pathogenic
Feingold syndrome type 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 322
NM_005378.6(MYCN):c.621dup (p.Ala208fs)Pathogenic
not provided|Feingold syndrome type 1
β˜…β˜…β˜†β˜†2023β†’ Residue 208
NM_005378.6(MYCN):c.442del (p.Gln148fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2016β†’ Residue 148
NM_005378.6(MYCN):c.1172G>T (p.Arg391Leu)Likely pathogenic
Feingold syndrome type 1
β˜…β˜†β˜†β˜†2025β†’ Residue 391
NM_005378.6(MYCN):c.558C>A (p.Cys186Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 186
NM_005378.6(MYCN):c.167_203del (p.Leu56fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 56
NM_005378.6(MYCN):c.795_797delLikely pathogenic
MYCN-related disorder
β˜…β˜†β˜†β˜†2025
NM_005378.6(MYCN):c.867dup (p.Asn290fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 290
NM_005378.6(MYCN):c.713_714del (p.Arg238fs)Likely pathogenic
Feingold syndrome type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 238
NM_005378.6(MYCN):c.407_489del (p.His136fs)Likely pathogenic
Feingold syndrome type 1;Megalencephaly-polydactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 136
NM_005378.6(MYCN):c.799del (p.Asp267fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 267
NM_005378.6(MYCN):c.1171C>T (p.Arg391Cys)Likely pathogenic
Feingold syndrome type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 391
NM_005378.6(MYCN):c.1148G>A (p.Arg383His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 383
View on ClinVar β†—
Related Genes
CDKN1AProtein interaction100%TP53Protein interaction100%AURKAProtein interaction100%NMIProtein interaction99%SHHProtein interaction98%TRRAPProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
62%
Ovary
20%
Heart
12%
Liver
3%
Lung
1%
Gene Interaction Network
Click a node to explore
MYCNCDKN1ATP53AURKANMISHHTRRAP
PROTEIN STRUCTURE
Preparing viewer…
PDB5G1X Β· 1.72 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.12 [0.05–0.31]
RankingsWhere MYCN stands among ~20K protein-coding genes
  • #519of 20,598
    Most Researched511 Β· top 5%
  • #1,015of 5,498
    Most Pathogenic Variants72 Β· top quartile
  • #1,224of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedMYCN
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Neuroblastoma and MYCN.
PMID: 24086065
Cold Spring Harb Perspect Med Β· 2013
1.00
2
The MYCN oncoprotein is an RNA-binding accessory factor of the nuclear exosome targeting complex.
PMID: 38703770
Mol Cell Β· 2024
0.90
3
The ELAVL3/MYCN positive feedback loop provides a therapeutic target for neuroendocrine prostate cancer.
PMID: 38016952
Nat Commun Β· 2023
0.80
4
MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma.
PMID: 38336749
Cell Death Dis Β· 2024
0.72
5
MYCN drives oncogenesis by cooperating with the histone methyltransferase G9a and the WDR5 adaptor to orchestrate global gene transcription.
PMID: 38547242
PLoS Biol Β· 2024
0.70