PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
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 beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2482678339 | 5:145,969,562 | A/G | — | uncertain significance |
| rs141962233 | 5:145,969,624 | G/A | — | likely benign |
| rs756684891 | 5:145,969,629 | T/G | — | uncertain significance |
| rs778233469 | 5:145,969,652 | C/G | — | uncertain significance |
| rs150241846 | 5:145,969,657 | C/A | — | likely benign |
| rs534609251 | 5:145,969,659 | C/A | — | uncertain significance |
| rs772255940 | 5:145,969,688 | C/T | — | uncertain significance |
| rs2482681533 | 5:145,969,728 | C/G | — | uncertain significance |
| rs750854131 | 5:145,972,540 | G/A | — | uncertain significance |
| rs2482711637 | 5:145,972,622 | G/T | — | uncertain significance |
| rs140308315 | 5:145,979,873 | C/T | — | uncertain significance |
| rs768002675 | 5:145,979,874 | G/A | — | uncertain significance |
| rs2151016852 | 5:145,979,884 | G/T | — | uncertain significance |
| rs369931023 | 5:145,979,904 | C/T | — | likely benign |
| rs2482775049 | 5:145,979,906 | G/A | — | uncertain significance |
| rs2482776140 | 5:145,979,994 | T/C | — | uncertain significance |
| rs1267137525 | 5:145,980,002 | G/C | — | uncertain significance |
| rs148423117 | 5:145,980,011 | G/A | — | uncertain significance |
| rs2483010154 | 5:146,017,867 | G/T | — | uncertain significance |
| rs150981315 | 5:146,017,897 | T/C | — | conflicting classifications of pathogenicity |
| rs199878645 | 5:146,017,939 | G/A | — | likely benign |
| rs746684718 | 5:146,030,121 | T/C | — | uncertain significance |
| rs143485788 | 5:146,030,164 | C/A | — | likely benign |
| rs771068110 | 5:146,030,186 | G/A | — | likely benign |
| rs1264408354 | 5:146,030,236 | C/T | — | uncertain significance |
| rs1371155769 | 5:146,030,245 | G/A | — | uncertain significance |
| rs765961419 | 5:146,030,247 | G/C | — | uncertain significance |
| rs7736604 | 5:146,068,662 | G/A | — | — |
| rs2151152854 | 5:146,070,690 | C/T | — | uncertain significance |
| rs756415160 | 5:146,070,692 | C/T | — | uncertain significance |
| rs2483316245 | 5:146,070,704 | A/C | — | uncertain significance |
| rs1452386364 | 5:146,070,725 | C/T | — | uncertain significance |
| rs758998144 | 5:146,070,774 | C/T | — | uncertain significance |
| rs374115840 | 5:146,070,809 | G/A | — | likely benign |
| rs6879694 | 5:146,077,526 | C/T | — | benign |
| rs1064796487 | 5:146,077,548 | T/C | — | uncertain significance |
| rs2483351443 | 5:146,077,664 | C/A | — | uncertain significance |
| rs2151162884 | 5:146,077,680 | C/A | — | uncertain significance |
| rs554953457 | 5:146,077,701 | T/A | — | uncertain significance |
| rs140556908 | 5:146,080,626 | T/C | — | likely benign |
| rs2483368011 | 5:146,080,643 | C/G | — | uncertain significance |
| rs1554126530 | 5:146,080,657 | G/A | — | uncertain significance |
| rs609412 | 5:146,225,244 | A/G | intron variant | — |
| rs2125443 | 5:146,229,428 | G/A | intron variant | — |
| rs9686807 | 5:146,235,633 | C/A | — | — |
| rs375712572 | 5:146,236,055 | C/T | — | likely benign |
| rs319227 | 5:146,245,762 | A/C | intron variant | — |
| rs319217 | 5:146,253,893 | T/C | intron variant | — |
| rs766675779 | 5:146,257,718 | G/C | — | likely benign |
| rs562613082 | 5:146,258,277 | C/T | — | likely benign |
| rs562775901 | 5:146,270,345 | T/C | — | — |
| rs1864982 | 5:146,320,823 | G/T | intron variant | — |
| rs9325032 | 5:146,415,216 | C/A | — | — |
| rs752317727 | 5:146,435,242 | C/G | — | uncertain significance |
| rs149203642 | 5:146,460,689 | T/A | — | likely benign |
| rs17524553 | 5:146,460,691 | T/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.