PPP2R2C
protein phosphatase 2 regulatory subunit Bgamma
Summary
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 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 a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760655172 | 4:6,325,036 | A/G | — | uncertain significance |
| rs371740090 | 4:6,325,120 | G/A | — | uncertain significance |
| rs754837498 | 4:6,325,172 | G/A | — | uncertain significance |
| rs375066274 | 4:6,325,190 | C/T | — | uncertain significance |
| rs760251644 | 4:6,325,220 | G/A | — | uncertain significance |
| rs367696094 | 4:6,325,273 | C/T | — | uncertain significance |
| rs553460833 | 4:6,328,430 | A/C | — | — |
| rs368801587 | 4:6,335,363 | T/C | — | uncertain significance |
| rs58127842 | 4:6,349,563 | C/T | — | benign |
| rs371827360 | 4:6,349,732 | C/G | — | uncertain significance |
| rs911749026 | 4:6,362,109 | A/G | — | — |
| rs540343985 | 4:6,366,479 | C/T | — | — |
| rs35410672 | 4:6,374,263 | G/A | — | benign |
| rs139419142 | 4:6,377,569 | G/T | — | uncertain significance |
| rs190838630 | 4:6,377,616 | C/T | — | uncertain significance |
| rs2474429465 | 4:6,380,229 | A/G | — | uncertain significance |
| rs1009200231 | 4:6,382,807 | T/C | — | uncertain significance |
| rs116399332 | 4:6,383,507 | G/A | — | uncertain significance |
| rs375633101 | 4:6,383,509 | G/T | — | uncertain significance |
| rs186691772 | 4:6,428,903 | G/A | intron variant | — |
| rs62286094 | 4:6,502,170 | C/G | — | — |
| rs115914102 | 4:6,526,279 | G/A | intron variant | — |
| rs570472092 | 4:6,550,953 | C/T | — | — |
| rs141252708 | 4:6,551,414 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.