E2F4
E2F transcription factor 4
Summary
The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3729639 | 16:67,225,501 | C/A | — | — |
| rs755790677 | 16:67,226,135 | C/G | — | uncertain significance |
| rs2032897566 | 16:67,226,144 | G/T | — | uncertain significance |
| rs1382714278 | 16:67,226,174 | C/G | — | uncertain significance |
| rs769594181 | 16:67,226,982 | G/A | — | uncertain significance |
| rs2507185101 | 16:67,227,067 | A/G | — | uncertain significance |
| rs145929720 | 16:67,228,590 | G/T | — | uncertain significance |
| rs377389907 | 16:67,228,592 | C/T | — | uncertain significance |
| rs2507187508 | 16:67,228,701 | T/A | — | uncertain significance |
| rs2507187517 | 16:67,228,704 | C/A | — | uncertain significance |
| rs2507187532 | 16:67,228,709 | C/T | — | uncertain significance |
| rs772133152 | 16:67,228,791 | C/G | — | uncertain significance |
| rs142389152 | 16:67,228,796 | C/T | — | uncertain significance |
| rs148595862 | 16:67,228,797 | G/A | — | uncertain significance |
| rs758224346 | 16:67,229,690 | G/A | — | uncertain significance |
| rs768961024 | 16:67,229,778 | C/G | — | uncertain significance |
| rs376202405 | 16:67,229,832 | G/A | — | uncertain significance |
| rs944375371 | 16:67,229,900 | C/A | — | uncertain significance |
| rs189616961 | 16:67,231,533 | C/G | — | uncertain significance |
| rs1437937934 | 16:67,231,973 | G/A | — | uncertain significance |
| rs61735430 | 16:67,231,976 | G/A | missense variant | — |
| rs775460095 | 16:67,231,978 | G/C | — | uncertain significance |
| rs12923138 | 16:67,233,266 | A/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.