PUM2
pumilio RNA binding family member 2
Summary
This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143577873 | 2:20,451,389 | G/A | — | benign |
| rs1469096643 | 2:20,451,422 | G/A | — | uncertain significance |
| rs72785292 | 2:20,451,445 | G/A | — | likely benign |
| rs1417022720 | 2:20,451,449 | T/C | — | uncertain significance |
| rs144180694 | 2:20,453,591 | T/C | — | uncertain significance |
| rs771555495 | 2:20,453,620 | A/G | — | uncertain significance |
| rs775170574 | 2:20,453,621 | T/C | — | uncertain significance |
| rs200316147 | 2:20,453,741 | G/C | — | uncertain significance |
| rs1365800468 | 2:20,454,690 | T/C | — | uncertain significance |
| rs191442919 | 2:20,458,021 | T/C | — | uncertain significance |
| rs2527977235 | 2:20,460,198 | G/A | — | uncertain significance |
| rs754377984 | 2:20,463,054 | T/C | — | uncertain significance |
| rs754432085 | 2:20,478,380 | G/A | — | uncertain significance |
| rs1236740378 | 2:20,478,536 | A/T | — | uncertain significance |
| rs750308253 | 2:20,478,543 | C/A | — | uncertain significance |
| rs545396548 | 2:20,482,726 | T/C | — | uncertain significance |
| rs772932935 | 2:20,482,822 | T/C | — | uncertain significance |
| rs1418056407 | 2:20,482,935 | A/T | — | uncertain significance |
| rs2529107127 | 2:20,483,146 | C/T | — | uncertain significance |
| rs768945533 | 2:20,490,487 | G/A | — | uncertain significance |
| rs1402209226 | 2:20,490,506 | C/T | — | uncertain significance |
| rs530419740 | 2:20,490,545 | G/A | — | uncertain significance |
| rs2529404630 | 2:20,490,550 | A/G | — | uncertain significance |
| rs151139479 | 2:20,494,190 | T/C | — | uncertain significance |
| rs773563950 | 2:20,494,195 | G/A | — | uncertain significance |
| rs373495007 | 2:20,494,247 | C/T | — | uncertain significance |
| rs1296343567 | 2:20,507,792 | G/T | — | uncertain significance |
| rs754481191 | 2:20,508,107 | C/T | — | uncertain significance |
| rs139030930 | 2:20,508,113 | C/T | — | uncertain significance |
| rs769490502 | 2:20,508,128 | T/C | — | uncertain significance |
| rs749121881 | 2:20,508,148 | T/C | — | uncertain significance |
| rs2530284022 | 2:20,508,268 | C/T | — | uncertain significance |
| rs748291919 | 2:20,508,286 | T/C | — | likely benign |
| rs768048673 | 2:20,508,340 | G/A | — | uncertain significance |
| rs577042700 | 2:20,511,273 | G/A | — | uncertain significance |
| rs2530442189 | 2:20,511,426 | T/C | — | uncertain significance |
| rs752684248 | 2:20,512,116 | C/T | — | uncertain significance |
| rs562686128 | 2:20,512,122 | T/C | — | uncertain significance |
| rs959924092 | 2:20,512,130 | T/C | — | uncertain significance |
| rs375796267 | 2:20,512,176 | T/C | — | uncertain significance |
| rs536135107 | 2:20,514,532 | T/C | — | — |
| rs372947789 | 2:20,518,348 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.