MYCN MYCN proto-oncogene, bHLH transcription factor
Gene ID: 4613, updated on 3-Apr-2024Gene type: protein coding
Also known as: NMYC; ODED; MODED; MPAPA; N-myc; FGLDS1; bHLHe37; MYCNsORF; MYCNsPEP
- See all available tests in GTR for this gene
- Go to complete Gene record for MYCN
- Go to Variation Viewer for MYCN variants
Summary
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
| Description | Tests |
|---|---|
| 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 type 1 | See labs |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Megalencephaly-polydactyly syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-07-12) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-07-12) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2p24.3
- Sequence:
- Chromosome: 2; NC_000002.12 (15940550..15947004)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYCN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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