Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived)

Identity

HGNC (Hugo) MYCN
Location 2p24.1
Location_base_pair Starts at 16080685 and ends at 16082265 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order centromeric to DDX1
 
  MYCN (2p24) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description 3 exons

Protein

Description 464 amino acids; contains a phosphorylation site, an acidic domain, an HLH motif, and a leucine zipper in C-term; forms heterodimers with MAX and recognize the core concensus sequence CACCTG
Expression during fetal development
Localisation nuclear
Function probable transcription factor; possible role during tissue differentiation
Homology with members of the myc family of helix-loop-helix transcription factors

Mutations

Somatic amplification, either in extrachromosomal double minutes or in homogeneously staining regions within chromosomes (there is amplification when, for exemple, 10 to 1000 copies of a gene are present in a cell); found amplified in a variety of human tumors, in particular in and also in retinoblastoma, small cell lung carcinoma, astrocytoma; level of amplification related to the tumor progression; transgenic mice that overexpress MYCN in neuroectodermal cells develop neuroblastoma

Implicated in

Entity neuroblastoma
Oncogenesis MYCN amplification is found in 15% of neuroblastoma, is an adverse prognostic feature per se, and is often associated with other adverse features (older age, abdominal tumor, advanced disease, and high lactate dehydrogenase, ferritin, and neuron-specific enolase serum levels)
  

External links

Nomenclature
HGNC (Hugo)MYCN   7559
Entrez_Gene (NCBI)MYCN  4613  v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
Cards
AtlasNMYC112
GeneCards (Weizmann)MYCN
Ensembl (Hinxton)ENSG00000134323 [Gene_View]  MYCN [Vega]
AceView (NCBI)MYCN
Genatlas (Paris)MYCN
euGene (Indiana)4613
SOURCE (Stanford)NM_005378
Gene Expression (Array Express) ENSG00000134323
Genomic and cartography
GoldenPath (UCSC)MYCN  -  2p24.1   chr2:16080685-16082265 +  2p24.1   [Description]    (hg19-Feb_2009)
EnsemblMYCN - 2p24.1 [CytoView]
Mapping of homologs : NCBIMYCN [Mapview]
OMIM164280   164840   602585   
Gene and transcription
Gene : Genbank (Entrez)AF320053 AI962624 AK298225 AK299495 BC002712
Reference sequence (RefSeq transcript) :SRSNM_005378
Reference transcript : EntrezNM_005378
RefSeq genomic : SRSAC_000045 AC_000134 NC_000002 NG_007457 NT_005334 NW_001838766 NW_927719
RefSeq genomic : EntrezAC_000045 AC_000134 NC_000002 NG_007457 NT_005334 NW_001838766 NW_927719
Consensus coding sequences : CCDS NCBIMYCN
Cluster EST : UnigeneHs.25960 [ SRS ] Hs.25960 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1569
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP04198 (SRS) P04198 (Expasy) P04198 (Uniprot)
With graphics : InterProP04198
Splice isoforms : VarSplice FASTAP04198(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HLH (PS50888)   
Domain pattern : Prosite (Expaxy)HLH (PS50888)   
Domains : Interpro (SRS)HLH_DNA-bd    HLH_DNA-bd_dom    Tscrpt_reg_Myc    Tscrpt_reg_Myc_N   
Domains : Interpro (EBI)HLH_DNA-bd    HLH_DNA-bd_dom    Tscrpt_reg_Myc    Tscrpt_reg_Myc_N   
Related proteins : CluSTrP04198
Domain families : Pfam SRSHLH (PF00010)    Myc_N (PF01056)   
Domain families : Pfam SangerHLH (PF00010)    Myc_N (PF01056)   
Domain families : Pfam NCBIpfam00010    pfam01056   
Domain families : Smart EMBLHLH (SM00353)  
Blocks (Seattle)P04198
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000134323
HPRD01278
Protein Interaction databases
DIP (DOE-UCLA)P04198
IntAct (EBI)P04198
FunCoupENSG00000134323
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMYCN
SNP : GeneSNP UtahMYCN
SNP : HGBaseMYCN
Genetic variants : HAPMAPMYCN
Cancer Gene: CensusMYCN 
Somatic Mutations in Cancer : COSMICMYCN 
Mutations and Diseases : HGMDMYCN
Hereditary diseases : OMIM164280    164840    602585   
Hereditary diseases : GENETests164280    164840    602585   
Diseases : Genetic AssociationMYCN
General knowledge
Homologs : HomoloGeneMYCN
Homology/Alignments : Family Browser UCSCMYCN
Phylogenetic Trees/Animal Genes : TreeFamMYCN
Chemical/Protein Interactions : CTD4613
Keywords Ontology : AmiGOchromatin  DNA binding  transcription factor activity  protein binding  nucleus  regulation of transcription from RNA polymerase II promoter  
Keywords Ontology : EGO-EBIchromatin  DNA binding  transcription factor activity  protein binding  nucleus  regulation of transcription from RNA polymerase II promoter  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeMYC-N (2p24.3) in normal cells (Bari)
Probes : ImagenesMYCN Related clones (RZPD - Berlin)
Literature
PubMed143 Pubmed reference(s) in Entrez
PubGeneMYCN

Bibliography

Transposition and amplification of oncogene-related sequences in human neuroblastomas.
Kohl NE, Kanda N, Schreck RR, Bruns G, Latt SA, Gilbert F, Alt FW
Cell. 1983 ; 35 (2 Pt 1) : 359-367.
PMID 6197179
 
MYCN oncogene amplification in neuroblastoma is associated with worse prognosis, except in stage 4s: the Italian experience with 295 children.
Tonini GP, Boni L, Pession A, Rogers D, Iolascon A, Basso G, Cordero di Montezemolo L, Casale F, Pession A, Perri P, Mazzocco K, Scaruffi P, Lo Cunsolo C, Marchese N, Milanaccio C, Conte M, Bruzzi P, De Bernardi B
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1997 ; 15 (1) : 85-93.
PMID 8996128
 
Targeted expression of MYCN causes neuroblastoma in transgenic mice.
Weiss WA, Aldape K, Mohapatra G, Feuerstein BG, Bishop JM
The EMBO journal. 1997 ; 16 (11) : 2985-2995.
PMID 9214616
 
Targeted expression of MYCN causes neuroblastoma in transgenic mice.
Weiss WA, Aldape K, Mohapatra G, Feuerstein BG, Bishop JM
The EMBO journal. 1997 ; 16 (11) : 2985-2995.
PMID 9214616
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written03-1998Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived). Atlas Genet Cytogenet Oncol Haematol. March 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/NMYC112.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 31 20:11:05 CEST 2010

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