PPP4R1
protein phosphatase 4 regulatory subunit 1
Summary
This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747017763 | 18:9,547,803 | G/A | — | uncertain significance |
| rs1323558463 | 18:9,547,812 | A/G | — | uncertain significance |
| rs750534530 | 18:9,547,879 | G/A | — | uncertain significance |
| rs201176037 | 18:9,547,898 | G/C | — | uncertain significance |
| rs1306449364 | 18:9,547,945 | A/T | — | uncertain significance |
| rs2510156876 | 18:9,549,215 | C/T | — | uncertain significance |
| rs1393003255 | 18:9,549,254 | C/A | — | uncertain significance |
| rs371122102 | 18:9,549,335 | G/A | — | uncertain significance |
| rs746414992 | 18:9,550,060 | A/G | — | uncertain significance |
| rs763837443 | 18:9,550,141 | G/A | — | uncertain significance |
| rs772739844 | 18:9,557,255 | C/A | — | uncertain significance |
| rs2510178442 | 18:9,557,265 | T/A | — | uncertain significance |
| rs2510178845 | 18:9,557,350 | T/C | — | uncertain significance |
| rs780714268 | 18:9,559,425 | C/A | — | uncertain significance |
| rs1184932139 | 18:9,559,445 | G/A | — | uncertain significance |
| rs2066638676 | 18:9,559,446 | T/C | — | uncertain significance |
| rs769505011 | 18:9,559,449 | C/G | — | uncertain significance |
| rs12970116 | 18:9,560,990 | C/G | — | — |
| rs201927969 | 18:9,561,997 | T/C | — | uncertain significance |
| rs1054901488 | 18:9,563,407 | T/C | — | uncertain significance |
| rs2066712548 | 18:9,563,525 | C/T | — | uncertain significance |
| rs11081483 | 18:9,565,914 | T/A | intron variant | — |
| rs140624010 | 18:9,566,200 | C/T | intron variant | — |
| rs199807748 | 18:9,570,161 | C/T | — | uncertain significance |
| rs748719001 | 18:9,570,227 | T/C | — | uncertain significance |
| rs773821783 | 18:9,570,241 | G/C | — | uncertain significance |
| rs1346074104 | 18:9,570,283 | G/C | — | uncertain significance |
| rs765390146 | 18:9,570,296 | C/T | — | uncertain significance |
| rs375660754 | 18:9,570,299 | C/T | — | uncertain significance |
| rs749274377 | 18:9,570,328 | T/A | — | uncertain significance |
| rs760094033 | 18:9,570,382 | T/A | — | uncertain significance |
| rs1238543627 | 18:9,570,431 | T/C | — | uncertain significance |
| rs1458963199 | 18:9,570,440 | A/G | — | uncertain significance |
| rs201201535 | 18:9,570,460 | T/C | — | uncertain significance |
| rs759874439 | 18:9,570,544 | A/C | — | uncertain significance |
| rs1315911877 | 18:9,583,136 | C/A | — | uncertain significance |
| rs761334563 | 18:9,584,769 | G/A | — | uncertain significance |
| rs766977564 | 18:9,584,777 | A/T | — | uncertain significance |
| rs769115505 | 18:9,584,803 | C/A | — | uncertain significance |
| rs768289996 | 18:9,584,810 | G/A | — | uncertain significance |
| rs565004444 | 18:9,588,143 | G/C | — | uncertain significance |
| rs756353503 | 18:9,588,175 | C/T | — | uncertain significance |
| rs1308485128 | 18:9,588,182 | T/C | — | uncertain significance |
| rs765217530 | 18:9,588,761 | G/A | — | uncertain significance |
| rs375235634 | 18:9,588,785 | C/T | — | uncertain significance |
| rs373456233 | 18:9,588,836 | G/A | — | uncertain significance |
| rs200484980 | 18:9,593,775 | C/A | — | uncertain significance |
| rs1261227393 | 18:9,593,852 | A/G | — | uncertain significance |
| rs1181921037 | 18:9,595,024 | T/C | — | uncertain significance |
| rs748123208 | 18:9,595,026 | T/C | — | likely benign |
| rs760333557 | 18:9,595,055 | C/T | — | uncertain significance |
| rs765666785 | 18:9,595,079 | T/C | — | uncertain significance |
| rs201637381 | 18:9,595,090 | A/C | — | uncertain significance |
| rs680478 | 18:9,609,957 | C/T | intron variant | — |
| rs2510299136 | 18:9,614,241 | T/A | — | uncertain significance |
| rs2510299193 | 18:9,614,250 | T/C | — | uncertain significance |
| rs583306 | 18:9,617,742 | C/T | upstream gene variant | — |
| rs8087795 | 18:9,617,988 | T/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.