E2F7
E2F Transcription Factor 7
Gene Information Card
| Symbol | E2F7 |
|---|---|
| Full Name | E2F transcription factor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.2 |
| NCBI Gene ID | 144455 ncbi.nlm.nih.gov/gene/144455 |
| Ensembl ID | ENSG00000165891 |
| UniProt ID | Q96AV8 |
| OMIM ID | 612046 |
| HGNC ID | 23820 |
| Aliases | E2F-7, FLJ12985 |
Description
E2F7 is a member of the E2F family of transcription factors that functions primarily as a transcriptional repressor. It plays a critical role in regulating the G1/S phase transition of the cell cycle and is involved in DNA damage response pathways. E2F7 binds to E2F consensus sites and represses the expression of E2F target genes, including those required for DNA replication and cell cycle progression. Its expression is induced during cell cycle arrest and in response to genotoxic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Dysregulation of E2F7 expression alters cell cycle control and promotes proliferation | PMID: 23431136 |
| Colorectal cancer | E2F7 overexpression correlates with poor prognosis and tumor progression | PMID: 27732953 |
| Hepatocellular carcinoma | E2F7 acts as an oncogene by repressing tumor suppressor genes | PMID: 29367600 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Testis | 5.8 | Low |
| Spleen | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells |
| HeLa | 10.5 | Cervical cancer cells |
| MCF7 | 8.2 | Breast cancer cells |
| HepG2 | 7.0 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; premature stop |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein lacking DNA-binding domain.
Gain of Function (GOF)
Not reported in E2F7.
Dominant Negative (DN)
Not reported in E2F7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle (Reactome: R-HSA-1640170)
• E2F-mediated regulation of DNA replication (Reactome: R-HSA-113510)
• p53-independent G1/S DNA damage checkpoint (Reactome: R-HSA-69615)
Protein Summary
E2F7 encodes a 911-amino acid protein that contains two DNA-binding domains, allowing it to bind E2F consensus sites as a homodimer or heterodimer with E2F8. It lacks a transactivation domain and functions as a repressor of E2F target genes. The protein is localized to the nucleus and is involved in cell cycle arrest, particularly in response to DNA damage. E2F7 expression is cell cycle-regulated and peaks during G1 phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| E2F7 Knockout HEK293 Cell Line | EDJ-KQ10419 | Human | 144455 | Details Get a Quote |
| E2F7 Knockout A-549 Cell Line | EDJ-KQ37782 | Human | 144455 | Details Get a Quote |
| E2F7 Knockout HCT 116 Cell Line | EDJ-KQ37783 | Human | 144455 | Details Get a Quote |
| E2F7 Knockout HeLa Cell Line | EDJ-KQ37784 | Human | 144455 | Details Get a Quote |
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