MYC Gene - MYC Proto-Oncogene, BHLH Transcription Factor
Comprehensive biomedical resource for MYC gene: genomic data, expression, mutations, and associated diseases
Gene Information Card
| Symbol | MYC |
|---|---|
| Full Name | MYC proto-oncogene, bHLH transcription factor |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.21 |
| NCBI Gene ID | 4609 ncbi.nlm.nih.gov/gene/4609 |
| Ensembl ID | ENSG00000136997 |
| UniProt ID | P01106 |
| OMIM ID | 190080 |
| HGNC ID | 7553 |
| Aliases | c-Myc, bHLHe39, MRTL, MYCC |
Description
MYC (MYC proto-oncogene, bHLH transcription factor) encodes a multifunctional transcription factor that regulates cell cycle progression, apoptosis, cellular growth, and metabolism. It forms a heterodimer with MAX and binds to E-box DNA sequences to activate or repress target genes. MYC is frequently amplified or translocated in many cancers, including Burkitt lymphoma, and is a key driver of oncogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Burkitt lymphoma | t(8;14) translocation places MYC under immunoglobulin enhancer control, leading to constitutive overexpression | OMIM #113970; NCBI Gene |
| Multiple myeloma | MYC rearrangement or amplification drives proliferation and survival | COSMIC; ClinVar |
| Breast cancer | MYC amplification and overexpression promote cell cycle progression and metastasis | NCBI Gene; COSMIC |
| Colorectal cancer | MYC activation via Wnt/β-catenin pathway or gene amplification | OMIM #114500; COSMIC |
| Prostate cancer | MYC overexpression correlates with aggressive disease and poor prognosis | ClinVar; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Testis | 8.7 | Medium |
| Colon | 6.3 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line; high MYC expression |
| K562 | 12.8 | Chronic myeloid leukemia; moderate expression |
| A549 | 9.5 | Lung adenocarcinoma; moderate expression |
| MCF7 | 7.2 | Breast cancer; moderate expression |
| HEK293 | 5.6 | Embryonic kidney; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.265C>T (p.Arg89Trp) | Missense | <0.1% | Alters transactivation domain; potential gain-of-function |
| c.454G>A (p.Glu152Lys) | Missense | <0.1% | Located in bHLH domain; may affect DNA binding |
| c.1000C>T (p.Arg334*) | Nonsense | <0.1% | Truncates protein; loss-of-function |
| MYC amplification | Copy number gain | Variable | Common in many cancers; increases MYC dosage |
| t(8;14)(q24;q32) | Translocation | High in Burkitt lymphoma | Places MYC under IgH enhancer; constitutive activation |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense or frameshift mutations (e.g., p.Arg334*) that truncate the protein and impair transcriptional activity.
Gain of Function (GOF)
Missense mutations in the transactivation domain (e.g., p.Arg89Trp) or gene amplification that enhance MYC stability or activity.
Dominant Negative (DN)
Mutations in the bHLH domain (e.g., p.Glu152Lys) that disrupt dimerization with MAX and inhibit normal MYC function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Protein heterodimerization activity (GO:0046982) |
| • Cell cycle regulation (GO:0051726) | • Apoptotic process (GO:0006915) |
| • Positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• MYC/Max transcriptional activation (Reactome R-HSA-212436)
• Cell cycle (KEGG hsa04110)
• Apoptosis (KEGG hsa04210)
• Wnt signaling pathway (KEGG hsa04310)
• PI3K-Akt signaling pathway (KEGG hsa04151)
Protein Summary
The MYC protein (c-Myc) is a 439-amino-acid transcription factor with an N-terminal transactivation domain, a central region, and a C-terminal basic helix-loop-helix leucine zipper (bHLH-LZ) domain. It heterodimerizes with MAX to bind E-box sequences (CACGTG) and regulates thousands of target genes involved in cell proliferation, differentiation, metabolism, and apoptosis. MYC is tightly controlled at multiple levels; its deregulation is a hallmark of many cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYCL Knockout HEK293 Cell Line | EDJ-KQ3627 | Human | 4610 | Details Get a Quote |
| MYCN Knockout HEK293 Cell Line | EDJ-KQ3843 | Human | 4613 | Details Get a Quote |
| MYCBP2 Knockout HEK293 Cell Line | EDJ-KQ7815 | Human | 23077 | Details Get a Quote |
| MYCT1 Knockout HEK293 Cell Line | EDJ-KQ9472 | Human | 80177 | Details Get a Quote |
| MYCBPAP Knockout HEK293 Cell Line | EDJ-KQ9970 | Human | 84073 | Details Get a Quote |
| MYCBP2 Knockout HCT 116 Cell Line | EDJ-KQ32016 | Human | 23077 | Details Get a Quote |
| MYCL Knockout A-549 Cell Line | EDJ-KQ25567 | Human | 4610 | Details Get a Quote |
| MYCL Knockout HCT 116 Cell Line | EDJ-KQ25568 | Human | 4610 | Details Get a Quote |
| MYCBP2 Knockout A-549 Cell Line | EDJ-KQ33342 | Human | 23077 | Details Get a Quote |
| MYCBP2 Knockout HeLa Cell Line | EDJ-KQ33343 | Human | 23077 | Details Get a Quote |
| MYCBPAP Knockout A-549 Cell Line | EDJ-KQ36903 | Human | 84073 | Details Get a Quote |
| MYCBP Knockout HEK293 Cell Line | EDJ-KQ51178 | Human | 26292 | Details Get a Quote |
| MYCL Knockout HeLa Cell Line | EDJ-KQ53933 | Human | 4610 | Details Get a Quote |
| MYCN Knockout HeLa Cell Line | EDJ-KQ53934 | Human | 4613 | Details Get a Quote |
| MYCBP Knockout HeLa Cell Line | EDJ-KQ55927 | Human | 26292 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
