InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYCN

Summary

InnateDB Protein

IDBP-30975.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYCN

Protein Name

v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)

Synonyms

bHLHe37; MODED; N-myc; NMYC; ODED;

Species

Homo sapiens

Ensembl Protein

ENSP00000281043

InnateDB Gene

IDBG-30973 (MYCN)

Protein Structure

UniProt Annotation

Function

May function as a transcription factor.

Subcellular Localization

Nucleus.

Disease Associations

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.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:0000269PubMed:15821734, ECO:0000269PubMed:16906565}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	38 [view]
Protein-Protein	35 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0046983	protein dimerization activity

Biological Process

GO:0001502	cartilage condensation
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0008284	positive regulation of cell proliferation
GO:0010942	positive regulation of cell death
GO:0030324	lung development
GO:0042733	embryonic digit morphogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048704	embryonic skeletal system morphogenesis
GO:0048712	negative regulation of astrocyte differentiation
GO:0048754	branching morphogenesis of an epithelial tube
GO:2000378	negative regulation of reactive oxygen species metabolic process