MYCN Chromosome 2
MYCN proto-oncogene, bHLH transcription factor
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
2p24.3
Ensembl
ENSG00000134323
Associated Conditions (6)
Feingold syndrome type 1
Feingold syndrome
Inborn genetic diseases
Megalencephaly-polydactyly syndrome
MYCN-related disorder
See cases
Key Variants
RS104893648
Conflicting classifications of pathogenicity
Feingold syndrome type 1, Feingold syndrome, Feingold syndrome type 1
Health Risk
RS1469113412
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1558536389
Conflicting classifications of pathogenicity
Health Risk
RS200236475
Conflicting classifications of pathogenicity
Feingold syndrome type 1, Megalencephaly-polydactyly syndrome, Feingold syndrome type 1
Health Risk
RS2527924310
Conflicting classifications of pathogenicity
MYCN-related disorder, Megalencephaly-polydactyly syndrome, MYCN-related disorder
Health Risk
RS373683425
Conflicting classifications of pathogenicity
MYCN-related disorder, MYCN-related disorder
Health Risk
RS374745691
Conflicting classifications of pathogenicity
Feingold syndrome type 1, Megalencephaly-polydactyly syndrome, Inborn genetic diseases
Health Risk
RS569527205
Conflicting classifications of pathogenicity
MYCN-related disorder, Feingold syndrome type 1, Megalencephaly-polydactyly syndrome
Health Risk
RS745414155
Conflicting classifications of pathogenicity
Inborn genetic diseases, MYCN-related disorder, Megalencephaly-polydactyly syndrome
Health Risk
RS753047771
Conflicting classifications of pathogenicity
Inborn genetic diseases, Feingold syndrome type 1, Megalencephaly-polydactyly syndrome
Health Risk
RS767711936
Conflicting classifications of pathogenicity
Health Risk
RS1057517770
Likely pathogenic
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2103325472 | Health Risk | Pathogenic | Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2103330395 | Health Risk | Pathogenic | — |
| RS2103331059 | Health Risk | Pathogenic | — |
| RS2527925514 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527925687 | Health Risk | Pathogenic | Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2527936984 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS367962377 | Health Risk | Pathogenic | Feingold syndrome type 1, Feingold syndrome type 1 |
| RS754137452 | Health Risk | Pathogenic | Feingold syndrome type 1, Megalencephaly-polydactyly syndrome, Feingold syndrome type 1 |
| RS759103701 | Health Risk | Pathogenic | Feingold syndrome type 1, Feingold syndrome type 1 |
| RS886039427 | Health Risk | Pathogenic | — |
| RS886039428 | Health Risk | Pathogenic | — |
| RS886041290 | Health Risk | Pathogenic | — |
| RS886041801 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886042150 | Health Risk | Pathogenic | — |
| RS104893647 | Health Risk | Pathogenic/Likely pathogenic | Feingold syndrome type 1, Inborn genetic diseases, Feingold syndrome type 1 |
| RS2103324867 | Health Risk | Pathogenic/Likely pathogenic | Feingold syndrome type 1, Feingold syndrome type 1 |
| RS2527927539 | Health Risk | Pathogenic/Likely pathogenic | Feingold syndrome type 1, Feingold syndrome type 1 |
| RS780080562 | Health Risk | Pathogenic/Likely pathogenic | Feingold syndrome type 1, Feingold syndrome type 1, Feingold syndrome type 1 |