MYBL2: A Key Transcriptional Regulator in Cell Cycle and Cancer
Comprehensive genomic and functional overview of the MYBL2 gene, its role in proliferation, and implications in oncogenesis.
Gene Information Card
| Symbol | MYBL2 |
|---|---|
| Full Name | MYB proto-oncogene like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 4605 ncbi.nlm.nih.gov/gene/4605 |
| Ensembl ID | ENSG00000101057 |
| UniProt ID | P10244 |
| OMIM ID | 601415 |
| HGNC ID | 7548 |
| Aliases | B-Myb, BMYB |
Description
MYBL2 (MYB proto-oncogene like 2) encodes a transcription factor belonging to the MYB family. It is a key regulator of cell cycle progression, particularly at the G2/M phase, and is involved in DNA replication, repair, and mitotic entry. MYBL2 is frequently overexpressed in various cancers and is considered an oncogene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of MYBL2 promotes cell proliferation and tumor growth; associated with poor prognosis. | ClinVar, COSMIC |
| Colorectal cancer | MYBL2 amplification and overexpression drive cell cycle dysregulation. | COSMIC, NCBI |
| Ovarian cancer | High MYBL2 expression correlates with aggressive disease and chemoresistance. | ClinVar, PubMed |
| Hepatocellular carcinoma | MYBL2 upregulation enhances G2/M transition and tumor progression. | COSMIC, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lymph node | 10.2 | High |
| Testis | 8.9 | Medium |
| Spleen | 7.3 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line; high expression |
| MCF7 | 12.8 | Breast cancer cell line; high expression |
| HCT116 | 11.2 | Colorectal cancer cell line; high expression |
| K562 | 9.5 | Leukemia cell line; medium expression |
| HEK293 | 4.3 | Embryonic kidney; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Altered DNA-binding domain; potential loss of function |
| c.1456C>T (p.Arg486Trp) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| Amplification | Copy number gain | 5-10% in breast cancer | Increased expression; oncogenic effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations in the DNA-binding domain may reduce transcriptional activity.
Gain of Function (GOF)
Gene amplification and overexpression lead to enhanced cell cycle progression and oncogenesis.
Dominant Negative (DN)
Not well documented; some truncating mutations may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• Transcriptional misregulation in cancer (KEGG hsa05202)
Protein Summary
MYBL2 (B-Myb) is a 700-amino-acid transcription factor with an N-terminal DNA-binding domain, a central transactivation domain, and a C-terminal regulatory region. It binds to MYB recognition elements (MREs) in target gene promoters, activating genes involved in G2/M transition, mitotic spindle assembly, and DNA repair. Phosphorylation by cyclin-dependent kinases (CDKs) modulates its activity. MYBL2 is essential for normal cell proliferation and is frequently deregulated in cancer.
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