MYCN
Developmental stage
Expressed during fetal development.
Domain
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function
Positively regulates the transcription of MYCNOS in neuroblastoma cells.
Involvement in disease
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
A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Megalencephaly-polydactyly syndrome
MPAPA
An autosomal dominant syndrome characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and increased risk of neuroblastoma.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by GSK3-beta which may promote its degradation (PubMed:24391509). Phosphorylated by AURKA (PubMed:27837025).
Tissue Specificity
Expressed in the neuronal cells of the cerebrum, neuroblastomas and thyroid tumors (at protein level).
Cellular localization
- Nucleus
Alternative names
BHLHE37, NMYC, MYCN, N-myc proto-oncogene protein, Class E basic helix-loop-helix protein 37, bHLHe37