Q66LE6
PR
Gene name |
PPP2R2D (KIAA1541) |
Protein name |
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform |
Names |
PP2A subunit B isoform B55-delta, PP2A subunit B isoform PR55-delta, PP2A subunit B isoform R2-delta, PP2A subunit B isoform delta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55844 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q66LE6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q66LE6-F1 | Predicted | AlphaFoldDB |
282 variants for Q66LE6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA661812286 rs1340440404 |
5 | G>A | No |
ClinGen TOPMed |
|
|
CA661812290 rs1372705272 |
8 | G>A | No |
ClinGen TOPMed |
|
|
CA661812291 rs1326247567 |
9 | C>F | No |
ClinGen TOPMed |
|
|
CA661812292 rs1326247567 |
9 | C>Y | No |
ClinGen TOPMed |
|
|
CA661812294 rs1391665801 |
10 | P>A | No |
ClinGen TOPMed |
|
|
rs1330751496 CA661812296 |
10 | P>L | No |
ClinGen TOPMed |
|
|
rs1418767018 CA661812298 |
12 | G>D | No |
ClinGen TOPMed |
|
|
CA661812297 rs1410497047 |
12 | G>R | No |
ClinGen TOPMed |
|
|
rs1397117865 CA661812303 |
17 | Q>H | No |
ClinGen TOPMed |
|
|
CA661812305 rs1194514510 |
19 | C>R | No |
ClinGen TOPMed |
|
|
CA661812307 rs1245082841 |
20 | F>C | No |
ClinGen TOPMed |
|
|
CA661812309 rs1438873521 |
23 | V>L | No |
ClinGen TOPMed |
|
|
CA661812313 rs1226640283 |
26 | A>S | No |
ClinGen TOPMed |
|
|
rs1350508454 CA661812314 |
27 | I>M | No |
ClinGen TOPMed |
|
|
rs782454777 CA5750357 |
34 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782294675 CA5750359 |
37 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378912331 rs1554896165 |
40 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554896166 CA378912356 |
43 | N>S | No |
ClinGen gnomAD |
|
|
CA378912362 rs1554896168 |
44 | Y>N | No |
ClinGen gnomAD |
|
|
CA378912384 rs1440764642 |
47 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 49 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782194730 CA216525110 |
52 | G>R | No |
ClinGen Ensembl |
|
|
rs1554896176 CA378912436 |
55 | G>D | No |
ClinGen gnomAD |
|
|
CA5750365 rs782065411 |
56 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216525114 rs773469374 |
60 | I>V | No |
ClinGen TOPMed |
|
|
CA5750367 rs782304722 |
63 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782030666 CA5750368 |
63 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201069665 CA5750370 |
65 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378912501 rs1262358408 |
65 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781851854 CA5750371 |
66 | E>K | No |
ClinGen ExAC |
|
|
rs1316022452 CA378912535 |
67 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5750392 rs782131911 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750393 rs782779479 |
70 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA378912564 rs1554896980 |
71 | P>L | No |
ClinGen gnomAD |
|
|
CA378912561 rs1554896978 |
71 | P>S | No |
ClinGen Ensembl |
|
|
rs1367762327 CA378912567 |
72 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1367762327 CA378912569 |
72 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781838782 CA5750394 |
72 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782474431 CA5750395 |
74 | R>W | No |
ClinGen ExAC |
|
|
CA378912584 rs1554896982 |
75 | G>R | No |
ClinGen gnomAD |
|
|
CA5750398 rs782551536 |
78 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA378912616 rs1303969516 |
79 | V>A | No |
ClinGen TOPMed |
|
|
rs782662178 CA5750399 |
79 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1554896994 CA378912635 |
82 | T>A | No |
ClinGen gnomAD |
|
|
CA5750401 rs782488766 |
82 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961319905 CA216526349 |
88 | P>L | No |
ClinGen TOPMed |
|
|
CA5750404 rs782316872 |
89 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378912749 rs1554897006 |
97 | E>D | No |
ClinGen gnomAD |
|
|
rs1554897007 CA378912752 |
98 | I>V | No |
ClinGen gnomAD |
|
|
CA378912763 rs1269176265 |
99 | E>G | No |
ClinGen TOPMed |
|
|
CA5750407 rs782393174 |
102 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1589951928 CA378912804 |
105 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 106 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782099756 CA5750409 |
106 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554897012 CA378912865 |
113 | A>S | No |
ClinGen gnomAD |
|
|
CA5750412 rs782051552 |
114 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA216526366 rs917160128 |
114 | A>V | No |
ClinGen Ensembl |
|
|
rs1554897016 CA378912877 |
115 | H>R | No |
ClinGen gnomAD |
|
|
CA5750413 rs782810307 |
116 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750417 rs781828721 |
120 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA378912908 rs1554897022 |
120 | T>I | No |
ClinGen gnomAD |
|
|
CA5750418 rs782475271 |
121 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378912969 rs1554897090 |
127 | L>* | No |
ClinGen gnomAD |
|
|
rs1309824555 CA378912970 |
127 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA378913016 rs1554897095 |
133 | R>L | No |
ClinGen gnomAD |
|
|
rs781983664 CA378913013 |
133 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378913020 rs1218468205 |
134 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA216526487 rs1049990595 |
134 | D>H | No |
ClinGen Ensembl |
|
|
CA378913021 rs1218468205 |
134 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782096545 CA5750435 |
136 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1564821233 CA378913091 |
144 | D>G | No |
ClinGen Ensembl |
|
|
CA378913095 rs1554897102 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1284807879 CA378913113 |
147 | G>* | No |
ClinGen TOPMed |
|
|
rs782168628 CA5750438 |
150 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA378913131 rs1554897104 |
150 | R>Q | No |
ClinGen gnomAD |
|
|
CA216526495 rs1006128767 |
154 | R>S | No |
ClinGen gnomAD |
|
|
CA5750439 rs782811828 |
156 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs552691540 CA216526503 |
157 | A>S | No |
ClinGen 1000Genomes |
|
|
CA378913178 rs1291330487 |
157 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5750444 rs782467232 |
159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781827357 CA5750443 |
159 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750460 rs781792253 |
162 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs369534966 CA5750459 |
162 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5750461 rs782542034 |
165 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5750462 rs782674547 |
166 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5750463 rs781865494 |
168 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782610991 CA5750465 |
169 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs782510968 CA5750464 |
169 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288670686 CA378913291 |
172 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1396268030 CA378913297 |
173 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782449204 CA378913312 |
176 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165138968 CA378913331 |
179 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5750468 rs782688679 |
180 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA216527201 rs922199967 |
180 | N>S | No |
ClinGen Ensembl |
|
|
CA378913362 rs1554897559 |
183 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782390619 CA5750470 |
185 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5750471 rs781990716 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1186448669 CA378913429 |
193 | S>T | No |
ClinGen TOPMed |
|
|
rs1469614951 CA378913441 |
195 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5750473 rs782344692 |
195 | H>R | No |
ClinGen ExAC |
|
| TCGA novel | 196 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378913471 rs886154152 |
199 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs886154152 CA216527208 |
199 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1263826751 CA378913489 |
202 | D>Y | No |
ClinGen TOPMed |
|
|
rs545914041 CA216527211 |
205 | R>K | No |
ClinGen Ensembl |
|
|
CA378913520 rs1554897577 |
206 | I>M | No |
ClinGen gnomAD |
|
|
rs1229630608 CA378913549 |
210 | H>R | No |
ClinGen TOPMed |
|
|
rs1564822453 CA378913559 |
211 | L>F | No |
ClinGen Ensembl |
|
|
rs1327535662 CA378913553 |
211 | L>I | No |
ClinGen TOPMed |
|
|
rs782809700 CA5750476 |
213 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1295447181 CA378913575 |
214 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs782016273 CA5750477 |
214 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs782125421 CA5750478 |
217 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1554897809 CA378913630 |
220 | I>V | No |
ClinGen gnomAD |
|
|
CA378913639 rs1554897811 |
221 | V>E | No |
ClinGen gnomAD |
|
|
CA378913636 rs1472079336 |
221 | V>M | No |
ClinGen TOPMed |
|
|
CA5750508 rs370741632 |
223 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554897815 CA378913674 |
224 | K>N | No |
ClinGen gnomAD |
|
|
rs373216246 CA5750511 |
224 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5750512 rs782185774 |
226 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782302750 CA5750513 |
228 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5750514 rs782028635 |
232 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5750517 rs781979918 |
235 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs976479435 CA216527580 |
236 | T>S | No |
ClinGen Ensembl |
|
|
CA5750519 rs782714817 |
239 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1344208198 CA378913946 |
242 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1344208198 CA378913945 |
242 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378913941 rs1226599414 |
242 | P>S | No |
ClinGen TOPMed |
|
|
CA5750521 rs782163458 |
243 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1227314372 CA378913949 |
243 | H>Y | No |
ClinGen TOPMed |
|
|
CA378913965 rs1554897843 |
245 | C>Y | No |
ClinGen gnomAD |
|
|
rs1554897844 CA378913970 |
246 | N>H | No |
ClinGen gnomAD |
|
|
rs953993191 CA216527588 |
247 | V>M | No |
ClinGen gnomAD |
|
|
rs201223480 CA5750524 |
249 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554897855 CA378914005 |
251 | S>G | No |
ClinGen gnomAD |
|
|
CA378914008 rs1564823057 |
251 | S>T | No |
ClinGen Ensembl |
|
|
CA378914042 rs1589955833 |
256 | T>P | No |
ClinGen Ensembl |
|
|
CA5750527 rs782446670 |
257 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782571879 CA5750528 |
258 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378914066 rs1423363107 |
260 | C>G | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378914092 rs1372875285 |
263 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782285773 CA5750529 |
264 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782403976 CA5750530 |
265 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554897868 CA378914112 |
267 | L>V | No |
ClinGen gnomAD |
|
|
rs1554897871 CA378914124 |
269 | D>N | No |
ClinGen gnomAD |
|
|
CA5750548 rs562202186 |
278 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782780712 CA5750549 |
282 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs781860845 CA5750550 |
283 | S>N | No |
ClinGen ExAC |
|
|
rs1554898147 CA378914251 |
284 | R>T | No |
ClinGen gnomAD |
|
|
CA378914260 rs1564823923 |
285 | S>F | No |
ClinGen Ensembl |
|
|
CA378914265 rs1375119545 |
286 | F>S | No |
ClinGen TOPMed |
|
|
rs1554898155 CA378914321 |
294 | I>T | No |
ClinGen gnomAD |
|
|
rs1554898153 CA378914318 |
294 | I>V | No |
ClinGen gnomAD |
|
|
CA378914330 rs1554898157 |
296 | D>N | No |
ClinGen gnomAD |
|
|
rs782441161 CA5750555 |
300 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA216528264 rs61745760 |
302 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 303 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216528266 rs766586991 |
304 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA378914417 rs1345676107 |
307 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5750557 rs140820296 |
310 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5750558 rs782395807 |
313 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76274320 CA216528279 CA5750560 |
314 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185717575 CA378914470 |
316 | V>L | No |
ClinGen TOPMed |
|
|
rs1445400442 CA378914480 |
317 | W>* | No |
ClinGen TOPMed |
|
|
rs782046497 CA5750563 |
319 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1554898177 CA378914509 |
321 | M>K | No |
ClinGen gnomAD |
|
|
CA378914541 rs1554898180 |
325 | P>L | No |
ClinGen gnomAD |
|
|
CA378914536 rs1554898179 |
325 | P>T | No |
ClinGen gnomAD |
|
|
rs782121870 CA5750566 |
327 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782767004 CA5750567 |
329 | H>R | No |
ClinGen ExAC |
|
|
rs868911214 CA378914562 |
329 | H>Y | No |
ClinGen Ensembl |
|
|
CA5750570 rs782691603 |
330 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782471400 CA5750569 |
330 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs782471400 CA378914572 |
330 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA378914582 rs1215664334 |
332 | H>Y | No |
ClinGen TOPMed |
|
|
CA378914593 rs782651908 |
333 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5750572 rs369435052 |
333 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547732352 CA5750574 |
336 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5750575 rs193198132 |
336 | R>H | Variant assessed as Somatic; 0.0002783 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750576 rs193198132 |
336 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5750577 rs782190671 |
337 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1246277757 CA378914618 |
338 | K>Q | No |
ClinGen TOPMed |
|
|
CA5750579 rs782027193 |
340 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA378914641 rs1309998308 |
341 | S>A | No |
ClinGen TOPMed |
|
|
CA5750582 rs781971947 |
343 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1554898220 CA378914661 |
344 | E>A | No |
ClinGen gnomAD |
|
|
rs879999561 CA378914683 |
347 | C>R | No |
ClinGen gnomAD |
|
|
rs1554898224 CA378914712 |
350 | D>E | No |
ClinGen gnomAD |
|
|
rs1554898233 CA378914740 |
354 | C>Y | No |
ClinGen gnomAD |
|
|
CA378914772 rs1554898239 |
358 | G>A | No |
ClinGen gnomAD |
|
|
CA5750587 rs34473884 |
358 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5750586 rs34473884 VAR_057127 |
358 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA216528354 rs142846802 |
359 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs1564827724 | 361 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378914811 rs1438500552 |
362 | A>T | No |
ClinGen TOPMed |
|
|
CA378914824 rs1554899777 |
364 | M>L | No |
ClinGen gnomAD |
|
|
CA378914897 rs1554899782 |
373 | R>S | No |
ClinGen gnomAD |
|
|
rs1233999216 CA378914899 |
374 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1345353923 CA378914916 |
376 | D>H | No |
ClinGen TOPMed |
|
|
CA5750626 rs558060643 |
377 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577541215 CA5750627 |
379 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs577541215 CA378914941 |
379 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5750629 rs782422407 |
380 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378914943 rs1416617235 |
380 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA378914946 rs1312104143 |
381 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA378914948 rs1432598689 |
381 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378914949 rs1432598689 |
381 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1160540854 CA378914954 |
382 | D>H | No |
ClinGen TOPMed |
|
|
CA378914972 rs1470603411 |
384 | T>I | No |
ClinGen TOPMed |
|
|
CA378914974 rs1589966022 |
385 | L>V | No |
ClinGen Ensembl |
|
|
rs782123141 CA5750631 |
388 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA5750633 rs368579242 |
389 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201895841 CA378915009 CA5750634 |
390 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5750637 rs782087412 |
394 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782087412 CA378915036 |
394 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378915037 rs782087412 |
394 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528975381 CA5750636 |
394 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378915038 rs868909200 |
395 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5750639 rs781856912 |
395 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378915040 rs868909200 |
395 | R>S | No |
ClinGen gnomAD |
|
|
rs1017840584 CA378915044 |
396 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1017840584 CA216530903 |
396 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1017840584 CA378915043 |
396 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA378915047 rs1554899819 |
396 | A>V | No |
ClinGen gnomAD |
|
|
CA378915055 rs1318651286 |
397 | S>R | No |
ClinGen TOPMed |
|
|
rs782589525 CA5750641 |
398 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1384505481 CA378915068 |
399 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs202228177 CA216530909 |
400 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5750644 rs782682369 |
401 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782438973 CA5750643 |
401 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5750645 rs782274862 |
402 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA216530918 rs763031271 |
403 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378915084 rs763031271 |
403 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5750647 rs375295573 |
405 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554899832 CA378915102 |
406 | G>R | No |
ClinGen gnomAD |
|
|
rs551673092 CA5750650 |
406 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378915111 rs1554899835 |
407 | G>A | No |
ClinGen gnomAD |
|
|
CA378915110 rs1554899835 |
407 | G>D | No |
ClinGen gnomAD |
|
|
rs1564827894 CA378915107 |
407 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 408 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5750651 rs782173844 |
409 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378915122 rs1554899837 |
409 | R>W | No |
ClinGen gnomAD |
|
|
CA378915144 rs1554899839 |
412 | D>G | No |
ClinGen gnomAD |
|
|
rs1446118930 CA378915164 |
415 | S>G | No |
ClinGen TOPMed |
|
|
rs565049203 CA378915166 |
415 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5750652 rs565049203 |
415 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1446118930 CA378915163 |
415 | S>R | No |
ClinGen TOPMed |
|
|
CA378915168 rs1554899845 |
415 | S>R | No |
ClinGen gnomAD |
|
|
CA5750653 rs565049203 |
415 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1589966173 CA378915184 |
418 | S>G | No |
ClinGen Ensembl |
|
|
CA378915202 rs1231387109 |
420 | D>E | No |
ClinGen TOPMed |
|
|
CA5750655 rs782739774 |
420 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1270607536 CA378915224 |
423 | K>N | No |
ClinGen TOPMed |
|
|
CA5750656 rs781826005 |
423 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782444066 CA5750657 |
425 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1326110834 CA378915244 |
426 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs549909505 CA5750659 |
428 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378915276 rs1589966205 |
431 | H>P | No |
ClinGen Ensembl |
|
|
CA5750660 rs782537292 |
433 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371756511 CA5750661 |
435 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378915329 rs1168897611 |
439 | V>E | No |
ClinGen TOPMed |
|
|
rs782181700 CA5750665 |
439 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1475310205 CA378915334 |
440 | A>P | No |
ClinGen TOPMed |
|
|
rs1475310205 CA378915332 |
440 | A>T | No |
ClinGen TOPMed |
|
|
CA378915344 rs1589966253 |
442 | T>P | No |
ClinGen Ensembl |
|
|
rs764512888 CA378915365 |
444 | N>K | No |
ClinGen gnomAD |
|
|
rs782272306 CA5750668 |
446 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1554899875 CA378915374 |
446 | Y>H | No |
ClinGen gnomAD |
|
|
CA378915385 rs1554899881 |
447 | I>M | No |
ClinGen gnomAD |
|
|
rs782375706 CA5750669 |
447 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378915387 rs1246523958 |
448 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5750670 rs781967676 |
450 | D>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q66LE6
9 regional properties for Q66LE6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 20 - 62 | IPR001680-1 |
| repeat | WD40 repeat | 89 - 129 | IPR001680-2 |
| repeat | WD40 repeat | 171 - 210 | IPR001680-3 |
| repeat | WD40 repeat | 221 - 261 | IPR001680-4 |
| repeat | WD40 repeat | 280 - 318 | IPR001680-5 |
| repeat | WD40 repeat | 345 - 376 | IPR001680-6 |
| repeat | WD40 repeat | 412 - 449 | IPR001680-7 |
| conserved_site | Protein phosphatase 2A regulatory subunit PR55, conserved site | 89 - 103 | IPR018067-1 |
| conserved_site | Protein phosphatase 2A regulatory subunit PR55, conserved site | 180 - 194 | IPR018067-2 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| protein phosphatase type 2A complex | A protein complex that has protein serine/threonine phosphatase activity that is polycation-stimulated (PCS), being directly stimulated by protamine, polylysine, or histone H1; it constitutes a subclass of several enzymes activated by different histones and polylysine, and consists of catalytic, scaffolding, and regulatory subunits. The catalytic and scaffolding subunits form the core enzyme, and the holoenzyme also includes the regulatory subunit. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein phosphatase regulator activity | Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| exit from mitosis | The cell cycle transition where a cell leaves M phase and enters a new G1 phase. M phase is the part of the mitotic cell cycle during which mitosis and cytokinesis take place. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9Q7 | PPP2R2B | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Bos taurus (Bovine) | PR |
| Q5ZIY5 | PPP2R2D | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform | Gallus gallus (Chicken) | PR |
| Q9Y2T4 | PPP2R2C | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform | Homo sapiens (Human) | PR |
| Q00005 | PPP2R2B | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Homo sapiens (Human) | PR |
| Q6ZWR4 | Ppp2r2b | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Mus musculus (Mouse) | PR |
| Q6P1F6 | Ppp2r2a | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform | Mus musculus (Mouse) | PR |
| Q8BG02 | Ppp2r2c | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform | Mus musculus (Mouse) | PR |
| P54614 | PPP2R2B | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Sus scrofa (Pig) | PR |
| P97888 | Ppp2r2c | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform | Rattus norvegicus (Rat) | PR |
| P36877 | Ppp2r2b | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Rattus norvegicus (Rat) | PR |
| Q0E2P1 | Os02g0224200 | Serine/threonine protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Oryza sativa subsp japonica (Rice) | PR |
| Q38821 | PP2AB1 | Serine/threonine protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0D2F4 | ppp2r2b | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6DIY3 | ppp2r2d | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6NY64 | ppp2r2d | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAGGGGCP | AGGNDFQWCF | SQVKGAIDED | VAEADIISTV | EFNYSGDLLA | TGDKGGRVVI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FQREQENKSR | PHSRGEYNVY | STFQSHEPEF | DYLKSLEIEE | KINKIRWLPQ | QNAAHFLLST |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NDKTIKLWKI | SERDKRAEGY | NLKDEDGRLR | DPFRITALRV | PILKPMDLMV | EASPRRIFAN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AHTYHINSIS | VNSDHETYLS | ADDLRINLWH | LEITDRSFNI | VDIKPANMEE | LTEVITAAEF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HPHQCNVFVY | SSSKGTIRLC | DMRSSALCDR | HSKFFEEPED | PSSRSFFSEI | ISSISDVKFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HSGRYMMTRD | YLSVKVWDLN | MESRPVETHQ | VHEYLRSKLC | SLYENDCIFD | KFECCWNGSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SAIMTGSYNN | FFRMFDRDTR | RDVTLEASRE | SSKPRASLKP | RKVCTGGKRR | KDEISVDSLD |
| 430 | 440 | 450 | |||
| FNKKILHTAW | HPVDNVIAVA | ATNNLYIFQD | KIN |