MEAF6: MYST/Esa1-Associated Factor 6
A chromatin-modifying complex subunit involved in transcription, DNA repair, and cancer
Gene Information Card
| Symbol | MEAF6 |
|---|---|
| Full Name | MYST/Esa1-associated factor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 64769 ncbi.nlm.nih.gov/gene/64769 |
| Ensembl ID | ENSG00000117500 |
| UniProt ID | Q9HAF1 |
| OMIM ID | 611472 |
| HGNC ID | 25507 |
| Aliases | EAF6, NY-SAR-48, FLJ11730 |
Description
MEAF6 (MYST/Esa1-associated factor 6) encodes a subunit of the NuA4 histone acetyltransferase complex and the INO80 chromatin remodeling complex. The protein directly interacts with the MYST family histone acetyltransferases (e.g., KAT5/Tip60) and is essential for complex integrity, histone H4 acetylation, DNA double-strand break repair, and transcriptional activation. MEAF6 is evolutionarily conserved from yeast to humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | MEAF6 overexpression correlates with poor prognosis; promotes cell proliferation via MYST complex activity | PMID: 30918255 |
| Colorectal cancer | MEAF6 amplification and upregulation enhance Wnt/β-catenin signaling | PMID: 31570780 |
| Lung adenocarcinoma | MEAF6 fusion with KAT6A (KAT6A-MEAF6) drives oncogenic histone acetylation | COSMIC ID: COSM1644672 |
| Endometrial stromal sarcoma | MEAF6-SUZ12 fusion identified in rare uterine sarcomas | PMID: 29506128 |
| Prostate cancer | MEAF6 knockdown reduces androgen receptor signaling and tumor growth | PMID: 32697944 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Brain (cerebellum) | 9.3 | Low |
| Heart | 8.1 | Low |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney; high expression |
| HeLa | 13.2 | Cervical carcinoma; moderate-high |
| MCF7 | 11.8 | Breast cancer; moderate |
| A549 | 10.4 | Lung carcinoma; moderate |
| K562 | 9.1 | Leukemia; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Glu73Lys (E73K) | Missense | <0.1% | Unknown; located in conserved region |
| p.Arg114Trp (R114W) | Missense | <0.1% | Predicted damaging (SIFT/PolyPhen) |
| KAT6A-MEAF6 fusion | Gene fusion | Rare | Oncogenic; drives H3K23 acetylation in lung cancer |
| SUZ12-MEAF6 fusion | Gene fusion | Rare | Oncogenic; identified in endometrial stromal sarcoma |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; likely impairs NuA4 complex assembly and histone acetylation
Gain of Function (GOF)
Fusion proteins (KAT6A-MEAF6, SUZ12-MEAF6) acquire aberrant chromatin-modifying activity promoting tumorigenesis
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• NuA4 histone acetyltransferase complex (Reactome: R-HSA-3322078)
• INO80 chromatin remodeling (Reactome: R-HSA-3322078)
• DNA double-strand break repair via homologous recombination (Reactome: R-HSA-5693565)
• Transcriptional regulation by MYST family (KEGG: hsa05202)
Protein Summary
MEAF6 is a 211-amino-acid protein (UniProt Q9HAF1) that contains a conserved EAF6 domain. It functions as a scaffold within the NuA4 and INO80 complexes, bridging catalytic subunits (e.g., KAT5, KAT6A) to chromatin. The protein is predominantly nuclear and is essential for histone H4 acetylation at lysine residues, facilitating transcription and DNA repair. MEAF6 fusions (e.g., KAT6A-MEAF6) are recurrent in cancer and lead to aberrant histone acetylation patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEAF6 Knockout HEK293 Cell Line | EDJ-KQ14227 | Human | 64769 | Details Get a Quote |
| MEAF6 Knockout HeLa Cell Line | EDJ-KQ42981 | Human | 64769 | Details Get a Quote |
| MEAF6 Knockout A-549 Cell Line | EDJ-KQ44195 | Human | 64769 | Details Get a Quote |
| MEAF6 Knockout HCT 116 Cell Line | EDJ-KQ44196 | Human | 64769 | Details Get a Quote |
