E2F6
Transcription factor involved in cell cycle regulation and chromatin modification
Gene Information Card
| Symbol | E2F6 |
|---|---|
| Full Name | E2F transcription factor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 1876 ncbi.nlm.nih.gov/gene/1876 |
| Ensembl ID | ENSG00000169016 |
| UniProt ID | O75461 |
| OMIM ID | 602896 |
| HGNC ID | 3117 |
| Aliases | E2F-6, MGC126562 |
Description
E2F6 is a member of the E2F family of transcription factors that plays a key role in cell cycle regulation. Unlike other E2F family members, E2F6 lacks a transactivation domain and functions primarily as a transcriptional repressor. It forms complexes with polycomb group proteins and histone methyltransferases to silence gene expression, particularly during G0/G1 phase. E2F6 is involved in chromatin modification, DNA replication, and cell proliferation control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of E2F6 alters cell cycle gene expression, promoting uncontrolled proliferation | COSMIC; literature |
| Hereditary cancer predisposition | Germline variants in E2F6 may contribute to cancer susceptibility | ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney |
| HeLa | 12.0 | Cervical carcinoma |
| K562 | 11.5 | Leukemia |
| MCF7 | 9.0 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of function; ClinVar |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in E2F6 are rare but may impair transcriptional repression, leading to aberrant cell cycle gene expression.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell cycle (KEGG hsa04110)
• E2F transcription factor network (Reactome R-HSA-8953897)
• Transcriptional regulation by E2F6 (Reactome R-HSA-8953898)
Protein Summary
E2F6 is a 281-amino acid protein (UniProt O75461) that contains a conserved DNA-binding domain but lacks a transactivation domain. It functions as a transcriptional repressor by recruiting polycomb repressive complexes and histone methyltransferases to target gene promoters. E2F6 is involved in silencing cell cycle genes during quiescence and differentiation. The protein is predominantly nuclear and expressed in a variety of tissues, with highest levels in testis and lymphoid organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| E2F6 Knockout HEK293 Cell Line | EDJ-KQ4493 | Human | 1876 | Details Get a Quote |
| E2F6 Knockout A-549 Cell Line | EDJ-KQ27072 | Human | 1876 | Details Get a Quote |
| E2F6 Knockout HCT 116 Cell Line | EDJ-KQ27073 | Human | 1876 | Details Get a Quote |
| E2F6 Knockout HeLa Cell Line | EDJ-KQ27074 | Human | 1876 | Details Get a Quote |
