E2F3
E2F transcription factor 3
Summary
This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770999810 | 6:20,402,481 | G/C | — | uncertain significance |
| rs200969581 | 6:20,402,485 | G/T | — | uncertain significance |
| rs189058327 | 6:20,402,810 | C/T | — | benign |
| rs548647258 | 6:20,476,916 | G/A | — | — |
| rs771475477 | 6:20,483,143 | G/T | — | uncertain significance |
| rs2533306275 | 6:20,486,947 | T/G | — | uncertain significance |
| rs192596458 | 6:20,486,955 | T/G | — | uncertain significance |
| rs3806116 | 6:20,487,250 | T/C | — | — |
| rs2533314383 | 6:20,488,477 | A/T | — | uncertain significance |
| rs4134982 | 6:20,490,428 | A/G | — | benign |
| rs151305307 | 6:20,490,464 | G/T | — | likely benign |
| rs139489495 | 6:20,490,473 | G/T | — | uncertain significance |
| rs1330116976 | 6:20,490,617 | G/T | — | uncertain significance |
| rs2533323842 | 6:20,490,653 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.