MYCN (myc myelocytomatosis viral related oncogene, neuroblastoma derived)

Identity

HGNC	MYCN
Location	2p24.1
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	MYCN   7559
Entrez_Gene	MYCN  4613  v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
	Cards
Atlas	NMYC112
GeneCards	MYCN
Ensembl	MYCN [Search_View]   ENSG00000134323 [Gene_View]
Genatlas	MYCN
GeneLynx	MYCN
eGenome	MYCN
euGene	4613
	Genomic and cartography
GoldenPath	MYCN  -  2p24.1   chr2:15998134-16004580 +  2p24.3   [Description]    (hg18-Mar_2006)
Ensembl	MYCN - 2p24.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MYCN
	Gene and transcription
Genbank	AF320053 [ ENTREZ ]
Genbank	AI962624 [ ENTREZ ]
Genbank	AK298225 [ ENTREZ ]
Genbank	AK299495 [ ENTREZ ]
Genbank	BC002712 [ ENTREZ ]
RefSeq	NM_005378 [ SRS ]    NM_005378 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NG_007457 [ SRS ]    NG_007457 [ ENTREZ ]
RefSeq	NT_005334 [ SRS ]    NT_005334 [ ENTREZ ]
RefSeq	NW_927719 [ SRS ]    NW_927719 [ ENTREZ ]
AceView	MYCN AceView - NCBI
Unigene	Hs.25960 [ SRS ]    Hs.25960 [ NCBI ]     HS25960 [ spliceNest ]
Fast-db	1569 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P04198 [ SRS]    P04198 [ EXPASY ]     P04198 [ INTERPRO ]     P04198 [ UNIPROT ]
Prosite	PS50888 HLH [ SRS ]    PS50888 HLH [ Expasy ]
Interpro	IPR001092 HLH_basic [ SRS ]    IPR001092 HLH_basic [ EBI ]
Interpro	IPR011598 HLH_DNA_bd [ SRS ]    IPR011598 HLH_DNA_bd [ EBI ]
Interpro	IPR002418 TF_Myc [ SRS ]    IPR002418 TF_Myc [ EBI ]
Interpro	IPR012682 TF_Myc_N [ SRS ]    IPR012682 TF_Myc_N [ EBI ]
CluSTr	P04198
Pfam	PF00010 HLH [ SRS ]    PF00010 HLH [ Sanger ]    pfam00010 [ NCBI-CDD ]
Pfam	PF01056 Myc_N [ SRS ]    PF01056 Myc_N [ Sanger ]    pfam01056 [ NCBI-CDD ]
Smart	SM00353 HLH [EMBL]
Blocks	P04198
HPRD	01278
	Protein Interaction databases
DIP	P04198
IntAct	P04198
	Polymorphism : SNP, mutations, diseases
OMIM	164280;164840;602585    [ map ]
GENECLINICS	164280;164840;602585
SNP	MYCN [dbSNP-NCBI]
SNP	NM_005378 [SNP-NCI]
SNP	MYCN [GeneSNPs - Utah]  MYCN] [HGBASE - SRS]
HAPMAP	MYCN [HAPMAP]
COSMIC	MYCN [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	MYCN
	General knowledge
Family Browser	MYCN [UCSC Family Browser]
SOURCE	NM_005378
SMD	Hs.25960
SAGE	Hs.25960
GO	chromatin [Amigo]  chromatin
GO	transcription factor activity [Amigo]  transcription factor activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription from RNA polymerase II promoter [Amigo]  regulation of transcription from RNA polymerase II promoter
PubGene	MYCN
TreeFam	MYCN
CTD	4613 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	MYC-N (2p24.3) in normal cells (Bari)
Probe	MYCN Related clones (RZPD - Berlin)
	PubMed
PubMed	97 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	03-1998	Jean-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 : Mon Sep 29 18:43:15 2008