Human Gene MYCN (ENST00000281043.4) from GENCODE V44
Description: Homo sapiens MYCN proto-oncogene, bHLH transcription factor (MYCN), transcript variant 2, mRNA. (from RefSeq NM_005378) RefSeq Summary (NM_001293233): This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]. Gencode Transcript: ENST00000281043.4 Gencode Gene: ENSG00000134323.13 Transcript (Including UTRs) Position: hg38 chr2:15,940,550-15,947,004 Size: 6,455 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr2:15,942,065-15,946,097 Size: 4,033 Coding Exon Count: 2
ID:MYCN_HUMAN DESCRIPTION: RecName: Full=N-myc proto-oncogene protein; AltName: Full=Class E basic helix-loop-helix protein 37; Short=bHLHe37; FUNCTION: May function as a transcription factor. SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1. INTERACTION: O14965:AURKA; NbExp=2; IntAct=EBI-878369, EBI-448680; Q13287:NMI; NbExp=3; IntAct=EBI-878369, EBI-372942; Q96EB6:SIRT1; NbExp=3; IntAct=EBI-878369, EBI-1802965; SUBCELLULAR LOCATION: Nucleus. DEVELOPMENTAL STAGE: Expressed during fetal development. DISEASE: 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. DISEASE: Defects in MYCN are the cause of Feingold syndrome type 1 (FGLDS1) [MIM:164280]. A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, and limb malformations. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SEQUENCE CAUTION: Sequence=AAA36371.1; Type=Erroneous initiation; Sequence=CAA68678.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NMYC112.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYCN";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P04198
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0019900 kinase binding GO:0046983 protein dimerization activity
Biological Process: GO:0001502 cartilage condensation GO:0002053 positive regulation of mesenchymal cell proliferation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0008284 positive regulation of cell proliferation GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0010942 positive regulation of cell death GO:0030324 lung development GO:0042733 embryonic digit morphogenesis GO:0045607 regulation of auditory receptor cell differentiation 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:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:2000378 negative regulation of reactive oxygen species metabolic process