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MYCN MYCN proto-oncogene, bHLH transcription factor

Gene ID: 4613, updated on 5-Jan-2022
Gene type: protein coding
Also known as: NMYC; ODED; MODED; N-myc; bHLHe37


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]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study identifies susceptibility loci for Wilms tumor.
GeneReviews: Not available
Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
GeneReviews: Not available
Feingold syndrome 1See labs
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available

Copy number response

Copy number response

No evidence available (Last evaluated 2017-07-12)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-07-12)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 2; NC_000002.12 (15940550..15947004)
Total number of exons:


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