E2F2 Transcription Factor
A key regulator of cell cycle progression and DNA replication
Gene Information Card
| Symbol | E2F2 |
|---|---|
| Full Name | E2F transcription factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 1870 ncbi.nlm.nih.gov/gene/1870 |
| Ensembl ID | ENSG00000007968 |
| UniProt ID | Q14209 |
| OMIM ID | 600426 |
| HGNC ID | 3114 |
| Aliases | E2F-2, RBP3 |
Description
E2F2 is a member of the E2F family of transcription factors that play a crucial role in the control of the cell cycle and tumor suppressor proteins. It regulates the expression of genes required for G1/S transition and DNA synthesis. E2F2 can act as both a transcriptional activator and repressor, depending on its binding partners (e.g., RB1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of E2F2 promotes cell proliferation and tumor growth | PMID: 23455478 |
| Lung cancer | E2F2 amplification leads to increased cell cycle progression | PMID: 25656899 |
| Glioblastoma | E2F2 upregulation correlates with poor prognosis and enhanced invasion | PMID: 27864367 |
| Bladder cancer | E2F2 mutations and altered expression contribute to tumorigenesis | PMID: 29056344 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Lymph node | 8.7 | Low |
| Testis | 15.2 | High |
| Spleen | 6.5 | Low |
| Thymus | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T | Missense | 0.02% | p.Thr34Ile; potential loss of function |
| c.205G>A | Missense | 0.01% | p.Gly69Arg; altered DNA binding |
| c.412_413insA | Frameshift | <0.01% | p.Thr138Asnfs*5; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the DNA-binding domain.
Gain of Function (GOF)
Missense mutations that enhance transcriptional activity or stability are rare but reported in some cancers.
Dominant Negative (DN)
Mutations that produce a truncated protein capable of interfering with wild-type E2F2 function.
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
E2F2 is a 437-amino acid transcription factor containing a conserved DNA-binding domain and a transactivation domain. It forms heterodimers with DP proteins (TFDP1/TFDP2) to bind E2F-responsive promoters. The protein is regulated by RB1-mediated repression during quiescence and released upon CDK-dependent phosphorylation. E2F2 is essential for normal cell proliferation and is frequently dysregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| E2F2 Knockout HEK293 Cell Line | EDJ-KQ4491 | Human | 1870 | Details Get a Quote |
| E2F2 Knockout A-549 Cell Line | EDJ-KQ27067 | Human | 1870 | Details Get a Quote |
| E2F2 Knockout HCT 116 Cell Line | EDJ-KQ27068 | Human | 1870 | Details Get a Quote |
| E2F2 Knockout HeLa Cell Line | EDJ-KQ27069 | Human | 1870 | Details Get a Quote |
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