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Aliases for MYCN Gene

Aliases for MYCN Gene

  • MYCN Proto-Oncogene, BHLH Transcription Factor 2 3 5
  • V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog 2 3
  • Class E Basic Helix-Loop-Helix Protein 37 3 4
  • BHLHe37 3 4
  • NMYC 3 4
  • Neuroblastoma-Derived V-Myc Avian Myelocytomatosis Viral Related Oncogene 3
  • N-Myc Proto-Oncogene Protein 3
  • Neuroblastoma MYC Oncogene 3
  • Oncogene NMYC 3
  • MODED 3
  • N-Myc 3
  • ODED 3

External Ids for MYCN Gene

Previous HGNC Symbols for MYCN Gene

  • NMYC

Previous GeneCards Identifiers for MYCN Gene

  • GC02P016084
  • GC02P016102
  • GC02P016032
  • GC02P015998
  • GC02P016080
  • GC02P015942
  • GC02P015943
  • GC02P015944
  • GC02P015945
  • GC02P015946
  • GC02P015947

Summaries for MYCN Gene

Entrez Gene Summary for MYCN 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]

CIViC summary for MYCN Gene

GeneCards Summary for MYCN Gene

MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor) is a Protein Coding gene. Diseases associated with MYCN include Feingold Syndrome 1 and Neuroblastoma. Among its related pathways are Notch Pathway and Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is MYC.

UniProtKB/Swiss-Prot for MYCN Gene

  • Positively regulates the transcription of MYCNOS in neuroblastoma cells.

Gene Wiki entry for MYCN Gene

Additional gene information for MYCN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYCN Gene

Genomics for MYCN Gene

Regulatory Elements for MYCN Gene

Enhancers for MYCN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H015982 0.5 FANTOM5 48.4 +42.3 42267 0 GATA3 RCOR1 MYCN RN7SL104P MYCNOS NBAS GACAT3
GH02H015911 1.3 FANTOM5 Ensembl ENCODE 12 -28.0 -28031 1 TBP ESRRA JUN MAX RFX5 ZNF664 E2F1 GATA3 FOSL2 PRDM10 MYCNOS MYCN RN7SL104P NBAS ENSG00000238371 MYCNUT
GH02H016223 0.5 FANTOM5 ENCODE 28.9 +283.1 283095 0 MYCN ENSG00000226041 ENSG00000251704 ENSG00000228876 LOC105373443
GH02H015938 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +1.1 1064 6 ZNF2 RAD21 ETS1 GLIS2 EGR1 EGR2 ZNF654 SP3 CEBPB ZNF398 DDX1 NBAS MYCN GC02P015941 GC02P015940
GH02H015964 0.9 Ensembl ENCODE dbSUPER 11.9 +24.9 24946 0 ZNF217 EZH2 MYCNOS MYCN RN7SL104P GACAT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYCN on UCSC Golden Path with GeneCards custom track

Promoters for MYCN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000289887 162 801 CTCF MXI1 MAX ZNF2 E2F1 GLIS2 POLR2A PATZ1 EZH2 SP3
ENSR00000289888 1762 1601 MXI1 SP2 ZNF398 ZFHX2 GLIS2 POLR2A ZNF341 PATZ1 PRDM10 ZBTB26

Genomic Location for MYCN Gene

Chromosome:
2
Start:
15,940,438 bp from pter
End:
15,947,007 bp from pter
Size:
6,570 bases
Orientation:
Plus strand

Genomic View for MYCN Gene

Genes around MYCN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYCN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYCN Gene

Proteins for MYCN Gene

  • Protein details for MYCN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04198-MYCN_HUMAN
    Recommended name:
    N-myc proto-oncogene protein
    Protein Accession:
    P04198
    Secondary Accessions:
    • Q53XS5
    • Q6LDT9

    Protein attributes for MYCN Gene

    Size:
    464 amino acids
    Molecular mass:
    49561 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1. Interacts with MYCNOS. Interacts with AURKA; interaction is phospho-independent and triggers AURKA activation; AURKA competes with FBXW7 for binding to unphosphorylated MYCN but not for binding to unphosphorylated MYCN (PubMed:27837025). Interacts with FBXW7; FBXW7 competes with AURKA for binding to unphosphorylated MYCN but not for binding to phosphorylated MYCN (PubMed:27837025).
    SequenceCaution:
    • Sequence=AAA36371.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68678.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYCN Gene

neXtProt entry for MYCN Gene

Post-translational modifications for MYCN Gene

  • Phosphorylated by GSK3-beta which may promote its degradation (PubMed:24391509). Phosphorylated by AURKA (PubMed:27837025).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYCN Gene

No data available for DME Specific Peptides for MYCN Gene

Domains & Families for MYCN Gene

Gene Families for MYCN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MYCN: view

No data available for UniProtKB/Swiss-Prot for MYCN Gene

Function for MYCN Gene

Molecular function for MYCN Gene

GENATLAS Biochemistry:
avian myelocytomatosis viral (v-myc) oncogene homolog,neuroblastoma derived,amplified in retinoblastoma,neuroblastoma,small cell carcinoma of the lung,with poor prognosis
UniProtKB/Swiss-Prot Function:
Positively regulates the transcription of MYCNOS in neuroblastoma cells.

Gene Ontology (GO) - Molecular Function for MYCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 17327229
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 17327229
GO:0003677 DNA binding TAS 10597290
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS 3796607
GO:0005515 protein binding IPI 10597290
genes like me logo Genes that share ontologies with MYCN: view
genes like me logo Genes that share phenotypes with MYCN: view

Human Phenotype Ontology for MYCN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYCN Gene

MGI Knock Outs for MYCN:

Animal Model Products

CRISPR Products

Transcription Factor Targets for MYCN Gene

Selected GeneGlobe predicted Target genes for MYCN
Targeted motifs for MYCN Gene
HOMER Transcription Factor Regulatory Elements motif MYCN
  • Consensus sequence: GNCCACGTGG Submotif: canonical Cell Type: mES GEO ID: GSE11431

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYCN
  • Applied Biological Materials Clones for MYCN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) and Phenotypes From GWAS Catalog for MYCN Gene

Localization for MYCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYCN Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYCN gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin TAS 3796607
GO:0005634 nucleus IEA,IDA 10597290
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with MYCN: view

Pathways & Interactions for MYCN Gene

genes like me logo Genes that share pathways with MYCN: view

Pathways by source for MYCN Gene

2 Cell Signaling Technology pathways for MYCN Gene
1 BioSystems pathway for MYCN Gene
1 KEGG pathway for MYCN Gene
1 Tocris pathway for MYCN Gene

SIGNOR curated interactions for MYCN Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 3796607
genes like me logo Genes that share ontologies with MYCN: view

Drugs & Compounds for MYCN Gene

(19) Drugs for MYCN Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
dinutuximab Approved Pharma 0

(22) Additional Compounds for MYCN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYCN: view

Transcripts for MYCN Gene

Unigene Clusters for MYCN Gene

V-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYCN
  • Applied Biological Materials Clones for MYCN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MYCN Gene

No ASD Table

Relevant External Links for MYCN Gene

GeneLoc Exon Structure for
MYCN
ECgene alternative splicing isoforms for
MYCN

Expression for MYCN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYCN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYCN Gene

This gene is overexpressed in Adipocyte (46.2) and Tlymphocyte (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYCN Gene



Protein tissue co-expression partners for MYCN Gene

NURSA nuclear receptor signaling pathways regulating expression of MYCN Gene:

MYCN

SOURCE GeneReport for Unigene cluster for MYCN Gene:

Hs.25960

mRNA Expression by UniProt/SwissProt for MYCN Gene:

P04198-MYCN_HUMAN
Tissue specificity: Expressed in the neuronal cells of the cerebrum, neuroblastomas and thyroid tumors (at protein level).

Evidence on tissue expression from TISSUES for MYCN Gene

  • Nervous system(4.9)
  • Eye(2.8)
  • Bone marrow(2.4)
  • Lung(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYCN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MYCN: view

Primer Products

No data available for mRNA differential expression in normal tissues for MYCN Gene

Orthologs for MYCN Gene

This gene was present in the common ancestor of animals.

Orthologs for MYCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYCN 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYCN 33 34
  • 89.18 (n)
cow
(Bos Taurus)
Mammalia MYCN 33 34
  • 88.73 (n)
rat
(Rattus norvegicus)
Mammalia Mycn 33
  • 83.51 (n)
mouse
(Mus musculus)
Mammalia Mycn 33 16 34
  • 82.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYCN 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYCN 34 33
  • 72.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYCN 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mycn 33
  • 62.95 (n)
Str.16732 33
African clawed frog
(Xenopus laevis)
Amphibia mycn-prov 33
zebrafish
(Danio rerio)
Actinopterygii mycn 33 34
  • 59.92 (n)
wufb57a02 33
fruit fly
(Drosophila melanogaster)
Insecta dm 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 12 (a)
OneToMany
Species where no ortholog for MYCN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYCN Gene

ENSEMBL:
Gene Tree for MYCN (if available)
TreeFam:
Gene Tree for MYCN (if available)

Paralogs for MYCN Gene

Paralogs for MYCN Gene

(2) SIMAP similar genes for MYCN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MYCN: view

Variants for MYCN Gene

Sequence variations from dbSNP and Humsavar for MYCN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893646 Pathogenic, Feingold syndrome 1 (FGLDS1) [MIM:164280] 15,945,880(+) CCAGC(A/G)CCGCA reference, missense, utr-variant-3-prime
rs104893647 Pathogenic, Feingold syndrome 1 (FGLDS1) [MIM:164280] 15,945,879(+) GCCAG(A/C)GCCGC reference, missense, utr-variant-3-prime
rs104893648 Pathogenic, Feingold syndrome 1 (FGLDS1) [MIM:164280] 15,945,883(+) GCGCC(A/G)CAACG reference, missense, utr-variant-3-prime
rs113994115 Pathogenic 15,942,281(+) GCTCC(G/T)AGCCC intron-variant, upstream-variant-2KB, reference, utr-variant-3-prime, stop-gained
rs121913666 Pathogenic 15,945,847(+) TGAGC(A/G)TCGCA reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MYCN Gene

Variant ID Type Subtype PubMed ID
dgv1102e212 CNV loss 25503493

Variation tolerance for MYCN Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYCN Gene

Human Gene Mutation Database (HGMD)
MYCN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYCN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYCN Gene

Disorders for MYCN Gene

MalaCards: The human disease database

(41) MalaCards diseases for MYCN Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
feingold syndrome 1
  • feingold syndrome
neuroblastoma
  • neuroblastoma 1
cerebral primitive neuroectodermal tumor
  • pnet of cerebrum
childhood medulloblastoma
  • pediatric medulloblastoma
autonomic nervous system neoplasm
  • tumor of autonomic nervous system
- elite association - COSMIC cancer census association via MalaCards
Search MYCN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYCN_HUMAN
  • Feingold syndrome 1 (FGLDS1) [MIM:164280]: A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. {ECO:0000269 PubMed:15821734, ECO:0000269 PubMed:16906565}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Amplification of the N-MYC gene is associated with a variety of human tumors, most frequently neuroblastoma, where the level of amplification appears to increase as the tumor progresses. {ECO:0000269 PubMed:2834684}.

Relevant External Links for MYCN

Genetic Association Database (GAD)
MYCN
Human Genome Epidemiology (HuGE) Navigator
MYCN
Tumor Gene Database (TGDB):
MYCN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYCN
genes like me logo Genes that share disorders with MYCN: view

No data available for Genatlas for MYCN Gene

Publications for MYCN Gene

  1. Specific phosphorylation of the acidic central region of the N-myc protein by casein kinase II. (PMID: 1425701) Hagiwara T … Taya Y (European journal of biochemistry 1992) 3 4 22 60
  2. Structural basis of N-Myc binding by Aurora-A and its destabilization by kinase inhibitors. (PMID: 27837025) Richards MW … Bayliss R (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4 60
  3. NCYM, a Cis-antisense gene of MYCN, encodes a de novo evolved protein that inhibits GSK3β resulting in the stabilization of MYCN in human neuroblastomas. (PMID: 24391509) Suenaga Y … Nakagawara A (PLoS genetics 2014) 3 4 60
  4. Subtype-specific FBXW7 mutation and MYCN copy number gain in Wilms' tumor. (PMID: 20332316) Williams RD … SIOP Wilms' Tumour Biology Group (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 45 60
  5. MYCN oncoprotein targets and their therapeutic potential. (PMID: 20153925) Bell E … Tweddle DA (Cancer letters 2010) 2 3 60

Products for MYCN Gene

  • Addgene plasmids for MYCN

Sources for MYCN Gene

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