MYB Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the MYB proto-oncogene, its role in hematopoiesis, cancer, and genetic disorders.
Gene Information Card
| Symbol | MYB |
|---|---|
| Full Name | MYB proto-oncogene, transcription factor |
| Gene Type | protein coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 4602 ncbi.nlm.nih.gov/gene/4602 |
| Ensembl ID | ENSG00000118513 |
| UniProt ID | P10242 |
| OMIM ID | 189990 |
| HGNC ID | 7548 |
| Aliases | Cmyb, c-myb, efg, MYB proto-oncogene |
Description
The MYB gene encodes a nuclear transcription factor that plays a critical role in hematopoiesis, cell proliferation, and differentiation. It is a proto-oncogene, and its dysregulation is implicated in various cancers, particularly leukemias and adenoid cystic carcinoma. The protein contains three functional domains: an N-terminal DNA-binding domain, a central transactivation domain, and a C-terminal negative regulatory domain. MYB is essential for normal blood cell development and is frequently overexpressed or mutated in malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adenoid cystic carcinoma | Chromosomal rearrangements (e.g., t(6;9)) leading to MYB-NFIB fusion, causing overexpression of MYB | Frequent in salivary gland tumors; MYB overexpression is a hallmark |
| Acute myeloid leukemia (AML) | Amplification, overexpression, or mutations leading to constitutive activation of MYB | MYB is overexpressed in many AML cases; knockdown inhibits leukemic cell growth |
| Chronic myeloid leukemia (CML) | MYB is a downstream target of BCR-ABL; overexpression contributes to leukemogenesis | MYB expression is elevated in CML blast crisis |
| T-cell acute lymphoblastic leukemia (T-ALL) | MYB is overexpressed due to genomic amplification or upstream activation | MYB is essential for T-ALL cell survival |
| Colorectal cancer | MYB overexpression promotes tumor progression and metastasis | Elevated MYB expression correlates with poor prognosis |
| Breast cancer | MYB overexpression in estrogen receptor-positive tumors | MYB is associated with hormone-dependent tumor growth |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High | High expression in hematopoietic tissues |
| Thymus | High | High expression in T-cell progenitors |
| Spleen | Moderate | Moderate expression in lymphoid tissues |
| Lymph Node | Moderate | Moderate expression in immune cells |
| Colon | Low | Low expression in epithelial tissues |
| Brain | Low | Low expression in neural tissues |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (CML) | High | Chronic myeloid leukemia cell line; high MYB expression |
| HL-60 (AML) | High | Promyelocytic leukemia cell line; high MYB expression |
| MCF7 (Breast cancer) | Moderate | ER-positive breast cancer cell line; moderate MYB expression |
| HeLa (Cervical cancer) | Low | Cervical cancer cell line; low MYB expression |
| A549 (Lung cancer) | Low | Lung carcinoma cell line; low MYB expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| MYB-NFIB fusion | Chromosomal rearrangement | Frequent in adenoid cystic carcinoma | Leads to overexpression of MYB due to loss of 3' regulatory elements |
| Amplification | Copy number gain | Observed in leukemias and solid tumors | Increased MYB copy number leads to overexpression |
| Missense mutations in DNA-binding domain | Point mutation | Rare | May alter DNA-binding specificity or affinity |
| Deletion of C-terminal negative regulatory domain | Deletion | Rare | Removes autoinhibitory domain, leading to constitutive activation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MYB are rare and typically not observed in cancer; complete loss is lethal in animal models due to essential role in hematopoiesis.
Gain of Function (GOF)
Gain-of-function mutations, including amplifications and fusions, lead to overexpression or constitutive activation, promoting oncogenesis.
Dominant Negative (DN)
Dominant-negative mutations have been reported in some contexts, where truncated MYB proteins interfere with normal MYB function, but this is less common.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Protein dimerization activity | • Regulation of transcription by RNA polymerase II |
| • Cell population proliferation | • Hematopoietic progenitor cell differentiation |
| • Negative regulation of cell differentiation | • Positive regulation of cell cycle |
Pathways
• Hematopoietic cell lineage
• Transcriptional regulation by MYB
• Signaling by WNT
• Apoptosis
• Cell cycle
Protein Summary
The MYB protein is a 640-amino acid transcription factor with three functional domains: an N-terminal DNA-binding domain (DBD) composed of three tryptophan-rich repeats, a central transactivation domain (TAD), and a C-terminal negative regulatory domain (NRD). It binds to the consensus sequence YAAC(G/T)G and regulates genes involved in cell cycle progression, differentiation, and survival. MYB is essential for definitive hematopoiesis and is highly expressed in immature hematopoietic cells. Its activity is regulated by post-translational modifications, including phosphorylation and ubiquitination. In cancer, MYB is often overexpressed or constitutively activated, contributing to uncontrolled proliferation and blocked differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYB Knockout HEK293 Cell Line | EDJ-KQ839 | Human | 4602 | Details Get a Quote |
| MYBL1 Knockout HEK293 Cell Line | EDJ-KQ2936 | Human | 4603 | Details Get a Quote |
| MYBPC2 Knockout HEK293 Cell Line | EDJ-KQ5278 | Human | 4606 | Details Get a Quote |
| MYBPC3 Knockout HEK293 Cell Line | EDJ-KQ5279 | Human | 4607 | Details Get a Quote |
| MYBPH Knockout HEK293 Cell Line | EDJ-KQ5280 | Human | 4608 | Details Get a Quote |
| MYBPC1 Knockout HEK293 Cell Line | EDJ-KQ5281 | Human | 4604 | Details Get a Quote |
| MYBPHL Knockout HEK293 Cell Line | EDJ-KQ14338 | Human | 343263 | Details Get a Quote |
| MYBL1 Knockout HCT 116 Cell Line | EDJ-KQ24051 | Human | 4603 | Details Get a Quote |
| MYBL1 Knockout HeLa Cell Line | EDJ-KQ24052 | Human | 4603 | Details Get a Quote |
| MYB Knockout HeLa Cell Line | EDJ-KQ18294 | Human | 4602 | Details Get a Quote |
| MYB Knockout HCT 116 Cell Line | EDJ-KQ19624 | Human | 4602 | Details Get a Quote |
| MYBL1 Knockout A-549 Cell Line | EDJ-KQ22681 | Human | 4603 | Details Get a Quote |
| MYBPC1 Knockout HeLa Cell Line | EDJ-KQ53929 | Human | 4604 | Details Get a Quote |
| MYBPC2 Knockout HeLa Cell Line | EDJ-KQ53930 | Human | 4606 | Details Get a Quote |
| MYBPC3 Knockout HeLa Cell Line | EDJ-KQ53931 | Human | 4607 | Details Get a Quote |
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