TAG for MYCN

Gene content

Symbol

MYCN ( by HUGO)

Name

V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma...

Category

Oncogene

Alias

V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog
NMYC
Class E Basic Helix-Loop-Helix Protein 37
bHLHe37
MODED
ODED
MYCNOT
N-myc
N-Myc Proto-Oncogene Protein
Neuroblastoma MYC Oncogene
Neuroblastoma-Derived V-Myc Avian Myelocytomatosis Viral Related Oncogene
Oncogene NMYC
pp65/67
BHLHE37

Cytogenetic band

NCBI: 2p24.3 Ensembl: 2p24.3

Protein information

MYCN_HUMAN

Size: 464 amino acids

Mass: 49561 Da

Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1 Developmental stage: Expressed during fetal development Sequence caution: Sequence=AAA36371.1; Type=Erroneous initiation; Sequence=CAA68678.1; Type=Erroneous initiation;

Function:

UniProtKB/Swiss-Prot Summary: MYCN_HUMAN, P04198 Function: May function as a transcription factor

Similarity:

Contains 1 bHLH (basic helix-loop-helix) domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR002418	Tscrpt_reg_Myc	Transcription regulator Myc	Family
	IPR011598	bHLH_dom	Helix-loop-helix DNA-binding	Domain
	IPR012682	Tscrpt_reg_Myc_N	Transcription regulator Myc, N-terminal	Domain
Blocks	IPB001092	Basic helix-loop-helix dimerization domain bHLH	Basic helix-loop-helix dimerization domain bHLH
Blocks	IPB002418	Myc proto-oncogene signature	Myc proto-oncogene signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	regulation of transcription from RNA polymerase II promoter	TAS	GOA	3796607
Cellular Component	chromatin	TAS	GOA	3796607
Cellular Component	nucleus	IDA	GOA	10597290
Molecular Function	DNA binding	TAS	GOA	10597290
Molecular Function	protein binding	IPI	GOA	10597290

Disorder & Mutation
Source	Disease
SWISS-PROT	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
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

MYCN cross reference