E2F8
E2F Transcription Factor 8
Gene Information Card
| Symbol | E2F8 |
|---|---|
| Full Name | E2F transcription factor 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 79733 ncbi.nlm.nih.gov/gene/79733 |
| Ensembl ID | ENSG00000129173 |
| UniProt ID | A0AVK6 |
| OMIM ID | 612052 |
| HGNC ID | 24727 |
| Aliases | E2F-8, FLJ23311 |
Description
E2F8 is a member of the E2F family of transcription factors that play a crucial role in the control of cell cycle progression and DNA replication. Unlike other E2F family members, E2F8 lacks a dimerization domain and functions as a transcriptional repressor by binding to E2F-responsive promoters. It is involved in regulating G1/S transition and is essential for normal cell proliferation. E2F8 is overexpressed in various cancers and has been implicated in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of E2F8 promotes cell proliferation and inhibits apoptosis via transcriptional repression of pro-apoptotic genes. | PMID: 25642768 |
| Breast cancer | E2F8 amplification and overexpression correlate with poor prognosis and increased tumor growth. | PMID: 25329319 |
| Bladder cancer | E2F8 upregulation is associated with advanced tumor stage and metastasis. | PMID: 27058617 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 10.8 | Breast cancer cell line |
| HepG2 | 9.5 | Hepatocellular carcinoma cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010C>T (p.Thr337Met) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1456G>A (p.Val486Ile) | Missense | 0.005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in E2F8.
Gain of Function (GOF)
Overexpression and amplification are observed in multiple cancers, suggesting a potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations described for E2F8.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• E2F transcription factor network (Reactome R-HSA-8953897)
Protein Summary
E2F8 is a 760-amino acid protein that functions as a transcriptional repressor. It contains a conserved DNA-binding domain but lacks a dimerization domain, allowing it to bind DNA as a monomer. E2F8 regulates genes involved in cell cycle progression, particularly at the G1/S transition. It is highly expressed in testis and overexpressed in several cancers, where it contributes to uncontrolled cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| E2F8 Knockout HEK293 Cell Line | EDJ-KQ13243 | Human | 79733 | Details Get a Quote |
| E2F8 Knockout A-549 Cell Line | EDJ-KQ42633 | Human | 79733 | Details Get a Quote |
| E2F8 Knockout HCT 116 Cell Line | EDJ-KQ42634 | Human | 79733 | Details Get a Quote |
| E2F8 Knockout HeLa Cell Line | EDJ-KQ42635 | Human | 79733 | Details Get a Quote |
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