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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]
MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor) is a Protein Coding gene. Diseases associated with MYCN include Feingold Syndrome 1 and Retinoblastoma. Among its related pathways are Neuroscience and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is MYC.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 17327229 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 17327229 |
GO:0003677 | DNA binding | TAS | 10597290 |
GO:0003700 | DNA-binding transcription factor activity | IEA,TAS | 3796607 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | TAS | 3796607 |
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 10597290 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis and Autophagy | ||
2 | Neuroscience | ||
3 | Transcriptional misregulation in cancer | ||
4 | Notch Pathway | ||
5 | Pathways Affected in Adenoid Cystic Carcinoma |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 3796607 |
GO:0010628 | positive regulation of gene expression | IDA | 23308108 |
GO:0010629 | negative regulation of gene expression | IDA | 21796614 |
GO:0045893 | positive regulation of transcription, DNA-templated | IMP | 24391509 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
dinutuximab | Approved, Investigational | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYCN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYCN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYCN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mycn 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mycn 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYCN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYCN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYCN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mycn 30 |
|
||
Str.16732 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | mycn-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mycn 30 31 |
|
OneToOne | |
wufb57a02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | dm 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642491 | Uncertain Significance: not provided | 15,942,320(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
669345 | Likely Benign: not provided | 15,941,967(+) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
695119 | Pathogenic: Feingold syndrome 1 | 15,945,804(+) | A/AAG | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT | |
695120 | Benign: Feingold syndrome 1 | 15,940,650(+) | C/T | NONSENSE,FIVE_PRIME_UTR_VARIANT | |
702007 | Likely Benign: not provided | 15,945,764(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1102e212 | CNV | loss | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
feingold syndrome 1 |
|
|
retinoblastoma |
|
|
neuroblastoma |
|
|
childhood medulloblastoma |
|
|
cerebral primitive neuroectodermal tumor |
|