MYCN
N-myc proto-oncogene protein
Also known as: bHLHe37, MYCN_HUMAN, MYCNOT, N-myc, NMYC
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P04198
- Gene
- MYCN
- Ensembl
- ENSG00000134323
- Chromosome
- 2
- Canonical length
- 464 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
464 residues, UniProt reviewed canonical sequence.
>P04198|MYCN
1 MPSCSTSTMP GMICKNPDLE FDSLQPCFYP DEDDFYFGGP DSTPPGEDIW KKFELLPTPP
61 LSPSRGFAEH SSEPPSWVTE MLLENELWGS PAEEDAFGLG GLGGLTPNPV ILQDCMWSGF
121 SAREKLERAV SEKLQHGRGP PTAGSTAQSP GAGAASPAGR GHGGAAGAGR AGAALPAELA
181 HPAAECVDPA VVFPFPVNKR EPAPVPAAPA SAPAAGPAVA SGAGIAAPAG APGVAPPRPG
241 GRQTSGGDHK ALSTSGEDTL SDSDDEDDEE EDEEEEIDVV TVEKRRSSSN TKAVTTFTIT
301 VRPKNAALGP GRAQSSELIL KRCLPIHQQH NYAAPSPYVE SEDAPPQKKI KSEASPRPLK
361 SVIPPKAKSL SPRNSDSEDS ERRRNHNILE RQRRNDLRSS FLTLRDHVPE LVKNEKAAKV
421 VILKKATEYV HSLQAEEHQL LLEKEKLQAR QQQLLKKIEH ARTCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MYCN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 7.7 nTPM
Expression across tissuesHPA
Tissue
- placenta: 7.7 nTPM
- spinal cord: 5.8 nTPM
- salivary gland: 4.7 nTPM
- hippocampal formation: 4.4 nTPM
- ovary: 3.9 nTPM
- midbrain: 3.7 nTPM
Single-cell type
- extravillous trophoblasts: 124 nCPM
- migrating cytotrophoblasts: 19 nCPM
- hematopoietic stem cells: 16 nCPM
- lymphatic endothelial cells: 12 nCPM
- mucous neck cells: 12 nCPM
- oligodendrocyte progenitor cells: 12 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 10 nTPM
- medulla oblongata: 7.4 nTPM
- cerebral cortex: 6.5 nTPM
- midbrain: 6.4 nTPM
- pons: 6.3 nTPM
- basal ganglia: 5.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MYCN.
Disease | AllUniProt
Conditions MYCN is implicated in, by any mechanism.
- Feingold syndrome 1 (FGLDS1) MIM:164280
- Megalencephaly-polydactyly syndrome (MPAPA) MIM:620748
Disease | GeneticClinVar
72 pathogenic / likely-pathogenic of 374 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Feingold syndrome type 1
- Inborn genetic diseases
- Megalencephaly-polydactyly syndrome
- MYCN-related disorder
- Feingold syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.89
- gnomAD missense Z
- 1.41
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- astrocyte differentiation
- autosome genomic imprinting
- branching morphogenesis of an epithelial tube
- cartilage condensation
- embryonic digit morphogenesis
- embryonic skeletal system morphogenesis
- epithelial cell proliferation
- lung development
- negative regulation of astrocyte differentiation
- negative regulation of gene expression
- negative regulation of reactive oxygen species metabolic process
- positive regulation of DNA-templated transcription
- positive regulation of epithelial cell proliferation
- positive regulation of gene expression
- positive regulation of mesenchymal cell proliferation
- positive regulation of miRNA transcription
- positive regulation of programmed cell death
- positive regulation of transcription by RNA polymerase II
- regulation of inner ear auditory receptor cell differentiation
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- kinase binding
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MYCN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MYCN as an antibody target. Whether an autoantibody or antibody against MYCN could matter depends on whether native MYCN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MYCN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MYCN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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