PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
Summary
This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs183093620 | 14:35,554,811 | G/T | — | uncertain significance |
| rs1384540937 | 14:35,554,879 | A/T | — | uncertain significance |
| rs1307002115 | 14:35,554,908 | C/T | — | pathogenic |
| rs753752520 | 14:35,554,920 | T/C | — | uncertain significance |
| rs1961195 | 14:35,556,842 | A/G | downstream gene variant | — |
| rs45466591 | 14:35,557,198 | T/C | — | uncertain significance |
| rs2038255 | 14:35,559,126 | C/T | intron variant | — |
| rs149578580 | 14:35,560,302 | C/T | — | uncertain significance |
| rs1566684983 | 14:35,560,340 | A/G | — | pathogenic |
| rs148710642 | 14:35,564,291 | C/T | — | uncertain significance |
| rs1267101697 | 14:35,564,309 | G/A | — | uncertain significance |
| rs377037544 | 14:35,564,324 | C/G | — | uncertain significance |
| rs2502989593 | 14:35,564,370 | T/C | — | uncertain significance |
| rs755429038 | 14:35,564,373 | C/T | — | uncertain significance |
| rs1485004185 | 14:35,565,796 | C/G | — | uncertain significance |
| rs1268141062 | 14:35,565,803 | T/C | — | uncertain significance |
| rs2502999604 | 14:35,565,823 | A/G | — | uncertain significance |
| rs17091786 | 14:35,565,856 | A/T | intron variant | — |
| rs75741665 | 14:35,566,040 | A/T | intron variant | — |
| rs768914854 | 14:35,568,486 | G/C | — | uncertain significance |
| rs1566411552 | 14:35,568,586 | A/G | — | pathogenic |
| rs8015119 | 14:35,568,788 | C/T | intron variant | — |
| rs111778408 | 14:35,572,163 | G/A | intron variant | — |
| rs7144423 | 14:35,572,547 | C/T | intron variant | — |
| rs57075379 | 14:35,577,801 | A/G | intron variant | — |
| rs1377974479 | 14:35,579,053 | C/T | — | uncertain significance |
| rs974890725 | 14:35,579,109 | T/C | — | uncertain significance |
| rs754106837 | 14:35,579,121 | A/G | — | pathogenic |
| rs76932844 | 14:35,579,968 | C/T | intron variant | — |
| rs12889019 | 14:35,580,276 | A/G | intron variant | — |
| rs72664816 | 14:35,581,148 | C/T | intron variant | — |
| rs146678865 | 14:35,585,829 | C/T | — | likely benign |
| rs145568755 | 14:35,585,881 | C/T | — | uncertain significance |
| rs2503112710 | 14:35,585,883 | G/A | — | uncertain significance |
| rs745935366 | 14:35,591,128 | G/A | — | uncertain significance |
| rs1056879 | 14:35,591,174 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.