PPP2R5E
protein phosphatase 2 regulatory subunit B'epsilon
Summary
The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61732995 | 14:63,851,221 | G/A | — | benign |
| rs6573513 | 14:63,855,760 | C/T | regulatory region variant | — |
| rs61756432 | 14:63,856,396 | C/T | — | benign |
| rs61995000 | 14:63,862,150 | G/A | intron variant | — |
| rs2139802538 | 14:63,863,379 | A/C | — | uncertain significance |
| rs61995003 | 14:63,864,271 | G/C | — | — |
| rs10133826 | 14:63,881,929 | G/T | — | benign |
| rs17824967 | 14:63,882,791 | G/A | — | — |
| rs2503280336 | 14:63,920,471 | A/G | — | uncertain significance |
| rs8016306 | 14:63,928,546 | A/T | — | — |
| rs11158493 | 14:63,953,522 | C/T | intron variant | — |
| rs76664468 | 14:63,997,710 | A/T | intron variant | — |
| rs2503664860 | 14:64,006,358 | C/T | — | uncertain significance |
| rs1255722 | 14:64,010,837 | A/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.