ECT2
epithelial cell transforming 2
Summary
The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7646507 | 3:172,476,419 | G/C | — | — |
| rs200696233 | 3:172,476,780 | T/G | — | uncertain significance |
| rs1296698017 | 3:172,476,804 | C/T | — | uncertain significance |
| rs1353128396 | 3:172,476,810 | T/C | — | uncertain significance |
| rs143756463 | 3:172,477,950 | G/T | — | uncertain significance |
| rs748778871 | 3:172,477,998 | T/G | — | uncertain significance |
| rs2474176380 | 3:172,479,425 | T/A | — | uncertain significance |
| rs1008089831 | 3:172,480,540 | A/G | — | uncertain significance |
| rs747123435 | 3:172,480,563 | A/T | — | uncertain significance |
| rs369761944 | 3:172,482,101 | A/G | — | uncertain significance |
| rs747643442 | 3:172,482,141 | G/A | — | uncertain significance |
| rs1315924523 | 3:172,482,155 | A/G | — | uncertain significance |
| rs372971067 | 3:172,482,173 | A/G | — | uncertain significance |
| rs754828041 | 3:172,482,203 | C/T | — | uncertain significance |
| rs769225953 | 3:172,482,236 | A/G | — | uncertain significance |
| rs374930176 | 3:172,482,285 | A/G | — | uncertain significance |
| rs1720105815 | 3:172,486,854 | A/C | — | uncertain significance |
| rs61747133 | 3:172,491,707 | A/G | — | benign |
| rs761620510 | 3:172,499,966 | A/G | — | uncertain significance |
| rs182472799 | 3:172,499,983 | G/A | — | uncertain significance |
| rs757057926 | 3:172,504,318 | A/G | — | uncertain significance |
| rs751229525 | 3:172,520,482 | C/G | — | uncertain significance |
| rs1365878389 | 3:172,520,687 | C/T | — | uncertain significance |
| rs146823982 | 3:172,520,688 | G/A | — | uncertain significance |
| rs2475083616 | 3:172,523,521 | A/T | — | uncertain significance |
| rs759246418 | 3:172,523,531 | A/G | — | uncertain significance |
| rs116467561 | 3:172,529,934 | C/T | intron variant | — |
| rs150167560 | 3:172,533,489 | G/T | — | uncertain significance |
| rs200766864 | 3:172,534,520 | G/A | — | uncertain significance |
| rs1007022602 | 3:172,534,568 | A/T | — | uncertain significance |
| rs756920683 | 3:172,534,584 | A/C | — | uncertain significance |
| rs376069595 | 3:172,534,620 | C/T | — | uncertain significance |
| rs184829238 | 3:172,537,406 | G/A | intron variant | — |
| rs766107326 | 3:172,538,017 | A/G | — | uncertain significance |
| rs76864072 | 3:172,538,065 | C/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.