MYCN

Chr 2

MYCN proto-oncogene, bHLH transcription factor

Also known as: FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc, NMYC, ODED

NCBI Gene: 4613ENSG00000134323UniProt: P04198

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFeingold syndrome 1
UniProtMegalencephaly-polydactyly syndrome

Clinical highlights

Gene-disease validity (ClinGen)
megalencephaly-polydactyly syndrome · ADModerateconsider for supplementary testing2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
431
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
LOF
Mechanism· G2P
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GeneReview available — MYCN
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.889
Z-score 2.87
OE 0.09 (0.03–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.41Z-score
OE missense 0.75 (0.66–0.84)
181 obs / 242.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.09 (0.03–0.41)
0≤0.351.4
Missense OE?0.75 (0.66–0.84)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 1 / 11.5Missense obs/exp: 181 / 242.7Syn Z: -1.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYCN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients