MDM4
MDM4 regulator of p53
Summary
This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1380576 | 1:204,488,278 | G/C | regulatory region variant | — |
| rs12041243 | 1:204,490,470 | A/G | regulatory region variant | — |
| rs12039968 | 1:204,490,674 | C/T | regulatory region variant | — |
| rs115828402 | 1:204,494,668 | G/A | — | benign |
| rs2102314425 | 1:204,494,708 | C/G | — | uncertain significance |
| rs181171068 | 1:204,495,504 | C/T | — | likely benign |
| rs778790692 | 1:204,495,505 | G/A | — | likely benign |
| rs2169137 | 1:204,497,913 | G/C | downstream gene variant | — |
| rs4252694 | 1:204,499,056 | A/G | upstream gene variant | — |
| rs61749329 | 1:204,499,880 | A/T | — | likely benign |
| rs762382380 | 1:204,507,407 | C/T | — | uncertain significance |
| rs1661628237 | 1:204,507,434 | A/G | — | uncertain significance |
| rs77617818 | 1:204,507,441 | G/A | — | likely benign |
| rs4252707 | 1:204,508,147 | G/A | intron variant | — |
| rs146492402 | 1:204,511,936 | C/G | — | uncertain significance |
| rs772463918 | 1:204,512,026 | A/G | — | uncertain significance |
| rs2102428142 | 1:204,513,691 | C/T | — | uncertain significance |
| rs372940927 | 1:204,513,724 | T/C | — | uncertain significance |
| rs1474468928 | 1:204,513,739 | G/A | — | uncertain significance |
| rs779132860 | 1:204,513,768 | A/G | — | uncertain significance |
| rs201166880 | 1:204,515,925 | G/T | — | uncertain significance |
| rs2290854 | 1:204,516,025 | A/G | intron variant | — |
| rs1563828 | 1:204,516,577 | A/T | — | — |
| rs4252740 | 1:204,518,246 | G/A | — | benign |
| rs1256440438 | 1:204,518,281 | C/T | — | uncertain significance |
| rs1346731264 | 1:204,518,382 | A/G | — | uncertain significance |
| rs953405377 | 1:204,518,403 | G/A | — | uncertain significance |
| rs139541595 | 1:204,518,414 | C/A | — | likely benign |
| rs41299595 | 1:204,518,457 | A/C | — | conflicting classifications of pathogenicity |
| rs370220372 | 1:204,518,472 | A/C | — | uncertain significance |
| rs2102456822 | 1:204,518,484 | T/C | — | uncertain significance |
| rs150420477 | 1:204,518,530 | C/T | — | uncertain significance |
| rs2527287563 | 1:204,518,614 | A/C | — | uncertain significance |
| rs1270135772 | 1:204,518,698 | C/T | — | uncertain significance |
| rs4252742 | 1:204,518,741 | G/A | — | benign |
| rs1052644 | 1:204,518,746 | C/T | — | uncertain significance |
| rs1663012151 | 1:204,518,769 | A/G | — | uncertain significance |
| rs4245739 | 1:204,518,842 | C/A | 3 prime UTR variant | — |
| rs56200417 | 1:204,522,018 | C/A | — | — |
| rs12116645 | 1:204,524,474 | G/C | — | — |
| rs10900598 | 1:204,525,568 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.