UHRF2
ubiquitin like with PHD and ring finger domains 2
Summary
This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753459104 | 9:6,413,540 | A/G | — | uncertain significance |
| rs2488682258 | 9:6,413,602 | G/T | — | uncertain significance |
| rs10758786 | 9:6,418,822 | C/A | — | — |
| rs376606673 | 9:6,421,013 | A/G | — | likely benign |
| rs557600837 | 9:6,421,036 | C/G | — | uncertain significance |
| rs2488705290 | 9:6,421,072 | T/C | — | uncertain significance |
| rs1256478918 | 9:6,421,096 | C/T | — | uncertain significance |
| rs748966033 | 9:6,421,104 | C/T | — | uncertain significance |
| rs150094630 | 9:6,421,117 | T/C | — | uncertain significance |
| rs373251740 | 9:6,421,135 | T/C | — | uncertain significance |
| rs13283662 | 9:6,428,530 | T/C | — | — |
| rs555891873 | 9:6,432,164 | C/T | — | — |
| rs2488747545 | 9:6,433,989 | G/T | — | uncertain significance |
| rs2488747775 | 9:6,434,038 | C/A | — | uncertain significance |
| rs2488748007 | 9:6,434,080 | A/G | — | uncertain significance |
| rs142772533 | 9:6,434,088 | A/C | — | uncertain significance |
| rs371780891 | 9:6,434,148 | G/A | — | uncertain significance |
| rs571898587 | 9:6,438,753 | A/G | — | — |
| rs414107 | 9:6,439,294 | C/T | intron variant | — |
| rs111520934 | 9:6,446,119 | A/G | intron variant | — |
| rs1219194151 | 9:6,460,714 | C/G | — | uncertain significance |
| rs1298554053 | 9:6,460,772 | C/T | — | uncertain significance |
| rs13283687 | 9:6,473,296 | A/G | upstream gene variant | — |
| rs979660065 | 9:6,477,625 | G/A | — | uncertain significance |
| rs2488888808 | 9:6,477,750 | G/T | — | uncertain significance |
| rs773132991 | 9:6,477,754 | A/T | — | uncertain significance |
| rs769595252 | 9:6,481,750 | G/A | — | uncertain significance |
| rs16924631 | 9:6,486,308 | G/C | intron variant | — |
| rs776960027 | 9:6,499,902 | G/C | — | uncertain significance |
| rs772751373 | 9:6,500,575 | G/T | — | uncertain significance |
| rs201601674 | 9:6,500,594 | C/T | — | uncertain significance |
| rs2488968315 | 9:6,500,686 | C/G | — | uncertain significance |
| rs73394299 | 9:6,502,429 | T/G | — | — |
| rs767665776 | 9:6,504,608 | T/A | — | uncertain significance |
| rs1329472114 | 9:6,504,675 | T/G | — | uncertain significance |
| rs758621271 | 9:6,506,127 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.