Q15172
Gene name |
PPP2R5A |
Protein name |
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
Names |
PP2A B subunit isoform B'-alpha, PP2A B subunit isoform B56-alpha, PP2A B subunit isoform PR61-alpha, PR61alpha, PP2A B subunit isoform R5-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5525 |
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
2 structures for Q15172
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6NTS | EM | 363 A | B | 1-486 | PDB |
| AF-Q15172-F1 | Predicted | AlphaFoldDB |
282 variants for Q15172
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1242389317 CA344885615 |
2 | S>A | No |
ClinGen TOPMed |
|
|
rs759946224 CA1383438 |
2 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435988405 CA344885623 |
3 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866673374 CA37246403 |
5 | S>P | No |
ClinGen TOPMed |
|
|
rs1558135638 CA344885637 |
6 | P>S | No |
ClinGen Ensembl |
|
|
CA37246404 rs1002847154 |
7 | P>L | No |
ClinGen gnomAD |
|
|
rs1324894825 CA344885648 |
8 | A>S | No |
ClinGen TOPMed |
|
|
CA344885655 rs1467540062 |
9 | G>E | No |
ClinGen gnomAD |
|
|
CA344885659 rs1257977138 |
10 | A>T | No |
ClinGen TOPMed |
|
|
rs753173935 CA1383441 |
11 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015768432 CA37246405 |
12 | S>G | No |
ClinGen Ensembl |
|
|
rs867673779 CA37246406 |
12 | S>R | No |
ClinGen Ensembl |
|
|
CA1383442 rs758450872 |
12 | S>T | No |
ClinGen ExAC |
|
|
CA344885674 rs1404677156 |
13 | A>T | No |
ClinGen gnomAD |
|
|
CA1383443 rs777724403 |
13 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37246407 rs866711977 |
16 | S>* | No |
ClinGen gnomAD |
|
|
CA344885696 rs866711977 |
16 | S>L | No |
ClinGen gnomAD |
|
|
rs745634075 CA1383447 |
18 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA344885712 rs1460914404 |
19 | E>G | No |
ClinGen gnomAD |
|
|
rs1201917147 CA344885729 |
21 | V>G | No |
ClinGen gnomAD |
|
|
rs1250133679 CA344885736 |
22 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1450336837 CA344885739 |
23 | G>R | No |
ClinGen gnomAD |
|
|
rs779994978 CA1383449 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA344885763 rs1168204845 |
27 | K>Q | No |
ClinGen TOPMed |
|
|
rs1411193203 CA344885774 |
28 | S>W | No |
ClinGen TOPMed |
|
|
rs749196942 CA1383450 |
30 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344885783 rs749196942 |
30 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768146082 CA1383451 |
30 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs773733633 CA1383452 |
31 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1383453 rs536847573 |
32 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs996038513 CA344885799 |
33 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs996038513 CA37246409 |
33 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1288614821 CA344885802 |
33 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344885805 rs1221346275 |
34 | R>G | No |
ClinGen gnomAD |
|
|
rs1246927856 CA344885807 |
34 | R>K | No |
ClinGen gnomAD |
|
|
CA1383454 rs771692473 |
35 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA344885831 rs1238156341 |
37 | R>L | No |
ClinGen TOPMed |
|
|
rs868609509 CA37246410 |
37 | R>S | No |
ClinGen TOPMed |
|
|
rs765539889 CA1383457 |
39 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1383458 rs776003767 |
40 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA344885845 rs1465479679 |
40 | G>S | No |
ClinGen gnomAD |
|
|
CA344885853 rs1240627208 |
41 | S>L | No |
ClinGen gnomAD |
|
|
rs1191625387 CA344885863 |
43 | Q>* | No |
ClinGen gnomAD |
|
|
rs764729691 CA1383460 |
45 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1479424247 CA344885882 |
45 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1399657182 CA344885899 |
48 | G>S | No |
ClinGen gnomAD |
|
|
CA344885911 rs1351321959 |
49 | S>R | No |
ClinGen gnomAD |
|
|
rs1439049401 CA344885914 |
50 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA37246413 rs866190911 |
51 | A>E | No |
ClinGen gnomAD |
|
|
CA344885924 rs866190911 |
51 | A>V | No |
ClinGen gnomAD |
|
|
rs75232123 CA1383466 |
55 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs977767402 CA37246414 |
55 | P>L | No |
ClinGen gnomAD |
|
|
rs1221955101 CA344885974 |
59 | L>P | No |
ClinGen gnomAD |
|
|
rs199996030 CA1383483 |
61 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA37250925 rs141270790 |
62 | A>D | No |
ClinGen ESP gnomAD |
|
|
rs949285552 CA37250924 |
62 | A>P | No |
ClinGen TOPMed |
|
|
CA344886842 rs1158162163 |
63 | T>S | No |
ClinGen gnomAD |
|
|
CA344886854 rs1193969423 |
65 | N>D | No |
ClinGen gnomAD |
|
|
CA1383484 rs767719968 |
65 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37250926 rs1046244917 |
66 | E>D | No |
ClinGen TOPMed |
|
| rs771923439 | 68 | Q>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750606106 CA1383486 |
69 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1558148963 CA344886908 |
72 | C>F | No |
ClinGen Ensembl |
|
|
CA1383487 rs756286291 |
73 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs766685836 CA1383488 |
76 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA344886947 rs1475315719 |
77 | Q>H | No |
ClinGen gnomAD |
|
|
CA344886941 rs1374022737 |
77 | Q>K | No |
ClinGen gnomAD |
|
|
CA1383489 rs753556980 |
79 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1383490 rs754844288 |
80 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344886987 rs1404112253 |
83 | D>G | No |
ClinGen gnomAD |
|
|
CA37250927 rs922667117 |
85 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344887015 rs1571597343 |
87 | S>P | No |
ClinGen Ensembl |
|
|
CA344887058 rs1319271158 |
93 | S>N | No |
ClinGen gnomAD |
|
|
rs113571279 CA344887077 |
95 | E>D | No |
ClinGen TOPMed |
|
|
CA1383491 rs371438723 |
96 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276538036 CA344887086 |
97 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748103080 CA1383492 |
99 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs374962053 CA37250931 |
100 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374962053 CA37250930 |
100 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344887121 rs1194137862 |
102 | N>K | No |
ClinGen TOPMed |
|
|
rs866356975 CA37250932 |
106 | E>* | No |
ClinGen Ensembl |
|
|
rs757843672 CA1383493 |
107 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA344887148 rs1205322898 |
107 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1383494 rs777266097 |
112 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344887202 rs1185563281 |
115 | I>T | No |
ClinGen TOPMed |
|
|
CA1383495 rs746596004 |
119 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776392856 CA1383497 |
121 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1237499018 CA344887247 |
122 | D>G | No |
ClinGen TOPMed |
|
|
CA344887244 rs1175746482 |
122 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344887256 rs1458927396 |
123 | I>M | No |
ClinGen gnomAD |
|
|
rs184178657 CA1383498 |
123 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 124 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 126 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs911610042 CA37251385 |
133 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs202004074 CA37251386 |
134 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1383520 rs779415573 |
136 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA37251387 rs878872531 |
138 | S>G | No |
ClinGen Ensembl |
|
|
rs748582305 CA1383521 |
141 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1383524 rs182683116 |
151 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1383522 rs182683116 |
151 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182683116 CA1383523 |
151 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344887475 rs1481912761 |
154 | A>T | No |
ClinGen gnomAD |
|
|
rs1196405048 CA344887480 |
154 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1374526182 CA344887494 |
156 | W>C | No |
ClinGen TOPMed |
|
|
rs1185631390 CA344887511 |
159 | I>V | No |
ClinGen gnomAD |
|
|
CA344887523 TCGA novel rs1386158224 |
160 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA344762761 rs1169634665 |
162 | V>L | No |
ClinGen gnomAD |
|
|
rs778096953 CA1383541 |
164 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1383542 rs747560993 |
172 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1450048800 CA344763117 |
173 | P>A | No |
ClinGen gnomAD |
|
|
rs17852039 CA36814478 |
176 | Q>R | No |
ClinGen Ensembl |
|
|
CA344763238 rs1290304600 |
178 | S>G | No |
ClinGen gnomAD |
|
|
CA344763243 rs1364493497 |
178 | S>N | No |
ClinGen gnomAD |
|
|
CA1383544 rs776766301 |
179 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1306274604 CA344763298 |
180 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344763311 rs1225367278 |
181 | K>E | No |
ClinGen gnomAD |
|
|
CA1383545 rs192765953 |
182 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA36814493 rs965269011 |
183 | Y>C | No |
ClinGen Ensembl |
|
|
CA36814497 rs369698862 |
184 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA1383546 rs374082551 |
185 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374082551 CA344763381 |
185 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374082551 CA1383547 |
185 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1774249 CA344763473 |
188 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1383550 rs147962315 |
189 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147962315 CA1383551 |
189 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36814556 rs931751731 |
191 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA344763522 rs931751731 |
191 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs373523104 CA1383571 |
194 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344764592 rs1358993216 |
197 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1383573 rs765582793 |
204 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 205 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344764684 rs1195585084 |
210 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA344764685 rs1195585084 |
210 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA36817186 rs942433088 |
210 | V>L | No |
ClinGen TOPMed |
|
|
CA344764701 rs1281369362 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA36817189 rs143781873 |
215 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1383576 rs764853636 |
216 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1435143688 CA344764756 |
221 | L>F | No |
ClinGen gnomAD |
|
|
CA1383578 rs757601495 |
223 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344764765 rs1386418221 |
223 | A>T | No |
ClinGen TOPMed |
|
|
rs1295337355 CA344764785 |
226 | R>* | No |
ClinGen TOPMed |
|
|
CA1383579 rs781693767 |
227 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs886638175 CA36817243 |
228 | Q>H | No |
ClinGen Ensembl |
|
|
rs780103900 CA1383583 |
232 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA344764849 rs1386773347 |
235 | R>G | No |
ClinGen gnomAD |
|
|
CA344764850 rs1386773347 |
235 | R>W | No |
ClinGen gnomAD |
|
|
rs766701370 CA36818501 |
237 | I>V | No |
ClinGen Ensembl |
|
|
CA344764902 rs1409448654 |
240 | T>I | No |
ClinGen gnomAD |
|
|
CA344764928 rs1329458838 |
244 | N>H | No |
ClinGen gnomAD |
|
|
CA344764939 rs1408543591 |
245 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1336354749 CA344764971 |
249 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344765026 rs1243707756 |
253 | L>F | No |
ClinGen TOPMed |
|
|
CA344765113 rs1398030746 |
256 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 262 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285441380 CA344765418 |
275 | V>A | No |
ClinGen gnomAD |
|
|
rs778938337 CA36819298 |
277 | I>T | No |
ClinGen Ensembl |
|
|
CA1383629 rs778186085 |
279 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 279 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192067111 CA344765545 |
282 | A>T | No |
ClinGen gnomAD |
|
|
CA344765562 rs1166597031 |
283 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344765582 rs1558153771 |
284 | G>R | No |
ClinGen Ensembl |
|
|
CA1383630 rs140243249 |
286 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563230469 CA1383631 |
287 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781225971 CA1383632 |
289 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs781225971 CA344765679 |
289 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1383633 rs745804683 |
290 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1383634 rs769280608 |
290 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344765715 rs1571608941 |
291 | Q>R | No |
ClinGen Ensembl |
|
|
CA344766444 rs1571609414 |
304 | T>I | No |
ClinGen Ensembl |
|
|
CA344766437 rs1352421705 |
304 | T>S | No |
ClinGen TOPMed |
|
|
rs758587827 CA1383648 |
309 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs550743255 CA36825222 |
310 | V>L | No |
ClinGen gnomAD |
|
|
rs550743255 CA344768262 |
310 | V>M | No |
ClinGen gnomAD |
|
|
rs766203588 CA1383694 |
312 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA344768290 rs1269590169 |
313 | G>R | No |
ClinGen TOPMed |
|
|
rs1558156458 CA344768358 |
317 | F>C | No |
ClinGen Ensembl |
|
|
CA1383696 rs377097219 |
321 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA36825232 rs528269132 |
322 | C>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 323 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942654759 CA36825488 |
327 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 330 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1383720 rs763662131 |
333 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344768733 rs1325626424 |
337 | L>F | No |
ClinGen Ensembl |
|
|
rs1172688487 CA344768739 |
338 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401263874 CA344768747 |
339 | V>I | No |
ClinGen gnomAD |
|
|
CA1383723 rs149320403 |
340 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79437056 CA36825506 |
345 | F>L | No |
ClinGen Ensembl |
|
|
CA344768858 rs1213717489 |
347 | K>N | No |
ClinGen gnomAD |
|
|
rs1257756350 CA344768867 |
348 | I>T | No |
ClinGen gnomAD |
|
|
rs1384652302 CA344768872 |
349 | E>K | No |
ClinGen gnomAD |
|
|
rs1384604197 CA344768885 |
350 | E>Q | No |
ClinGen TOPMed |
|
|
CA344768916 rs1179866637 |
353 | F>L | No |
ClinGen TOPMed |
|
|
CA1383724 rs749630804 |
356 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344768972 rs1558156615 |
357 | S>F | No |
ClinGen Ensembl |
|
|
CA1383725 rs755416936 |
358 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1383728 rs772523863 |
361 | S>A | No |
ClinGen ExAC |
|
|
rs1051500380 CA36825535 |
363 | S>F | No |
ClinGen TOPMed |
|
|
CA344769076 rs1333319637 |
367 | V>I | No |
ClinGen gnomAD |
|
|
rs1432755922 CA344769132 |
371 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1278787806 CA344769153 |
372 | L>F | No |
ClinGen gnomAD |
|
|
rs751057246 CA1383740 |
377 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344769239 rs1216332203 |
377 | N>S | No |
ClinGen gnomAD |
|
|
CA1383741 rs756757799 |
378 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344769296 rs1278312752 |
380 | I>T | No |
ClinGen gnomAD |
|
|
rs767231100 CA1383742 |
382 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1383744 rs750115208 |
384 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs970868939 CA36825724 |
388 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344769434 rs1379566913 |
388 | I>T | No |
ClinGen gnomAD |
|
|
CA344769432 rs970868939 |
388 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1383746 rs779417635 |
389 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs17852038 CA36825726 |
389 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 390 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344769530 rs1177604596 |
395 | M>I | No |
ClinGen gnomAD |
|
|
rs1399726705 CA344769529 |
395 | M>T | No |
ClinGen gnomAD |
|
|
rs1172240206 CA344769516 |
395 | M>V | No |
ClinGen gnomAD |
|
|
CA344769546 rs1298658905 |
397 | A>S | No |
ClinGen gnomAD |
|
|
rs1157798977 CA344769558 |
398 | S>R | No |
ClinGen TOPMed |
|
|
CA1383749 rs778179116 |
401 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs747076704 CA1383750 |
402 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253612006 CA344769620 |
403 | S>C | No |
ClinGen TOPMed |
|
|
CA1383751 rs771025750 |
408 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1383752 rs776779360 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1383790 rs761836623 |
417 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753460155 CA1383795 |
424 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs766012039 CA1383794 |
424 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763322752 CA1383796 |
425 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs764373826 CA1383797 |
427 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs752030312 CA1383799 |
431 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1383798 rs752030312 |
431 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1383800 rs750008940 |
432 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344770302 rs1231723709 |
439 | A>T | No |
ClinGen TOPMed |
|
|
CA344770408 rs1266749763 |
444 | E>K | No |
ClinGen TOPMed |
|
|
CA1383821 rs766364145 |
448 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA344770454 rs755132136 |
450 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755132136 CA1383823 |
450 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779233052 CA1383824 |
451 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1412060471 CA344770465 |
451 | R>L | No |
ClinGen gnomAD |
|
|
CA344770468 rs1198599806 |
452 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344770466 rs1198599806 |
452 | E>Q | No |
ClinGen gnomAD |
|
|
rs747909101 CA1383825 |
453 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 455 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1383827 rs777798963 |
456 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 457 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977317471 CA36828412 |
457 | K>R | No |
ClinGen Ensembl |
|
|
CA36828425 rs746751008 |
459 | E>D | No |
ClinGen Ensembl |
|
|
rs1440333259 CA344770579 |
460 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1328135667 CA344770615 |
462 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1383830 rs770971667 |
465 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA344770695 rs1311588181 |
466 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36828447 rs573098347 |
467 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA344770712 rs1363071777 |
467 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297700537 CA344770792 |
470 | Q>R | No |
ClinGen gnomAD |
|
|
rs1014789613 CA36828472 |
473 | A>T | No |
ClinGen TOPMed |
|
|
rs745433703 CA344770898 |
474 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs775156232 CA1383834 |
475 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1383833 rs769301353 |
475 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1383835 rs762117528 |
476 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA344770944 rs1230873880 |
476 | M>V | No |
ClinGen gnomAD |
|
|
rs1488603284 CA344770990 |
477 | H>P | No |
ClinGen gnomAD |
|
|
CA344770996 rs1215849375 |
477 | H>Q | No |
ClinGen gnomAD |
|
|
CA1383836 rs767872976 |
478 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761071796 CA1383838 |
481 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1383839 rs766957659 |
481 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs753828171 CA1383840 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA36828554 rs765503592 |
485 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765503592 CA1383842 |
485 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916598455 CA36828561 |
486 | E>D | No |
ClinGen Ensembl |
|
|
CA1383843 rs752977429 |
486 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 487 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755633598 CA1383844 |
487 | E>L | No |
ClinGen ExAC gnomAD |
|
|
CA344771198 rs1268836453 |
487 | E>Q | No |
ClinGen TOPMed |
No associated diseases with Q15172
8 regional properties for Q15172
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | F-box domain | 277 - 332 | IPR001810 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 400 - 425 | IPR006553-1 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 450 - 475 | IPR006553-2 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 478 - 503 | IPR006553-3 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 504 - 524 | IPR006553-4 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 532 - 557 | IPR006553-5 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 558 - 583 | IPR006553-6 |
| repeat | Leucine-rich repeat, cysteine-containing subtype | 584 - 609 | IPR006553-7 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| M band | The midline of aligned thick filaments in a sarcomere; location of specific proteins that link thick filaments. Depending on muscle type the M band consists of different numbers of M lines. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| 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. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
| protein phosphatase activator activity | Binds to and increases the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
| 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. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of lipid kinase activity | Any process that decreases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. |
| negative regulation of protein localization to plasma membrane | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane. |
| positive regulation of protein dephosphorylation | Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4FV68 | PPP2R5E | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform | Bos taurus (Bovine) | PR |
| Q15173 | PPP2R5B | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform | Homo sapiens (Human) | PR |
| Q16537 | PPP2R5E | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform | Homo sapiens (Human) | PR |
| Q14738 | PPP2R5D | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform | Homo sapiens (Human) | PR |
| Q61151 | Ppp2r5e | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform | Mus musculus (Mouse) | PR |
| Q6PD03 | Ppp2r5a | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform | Mus musculus (Mouse) | PR |
| O04375 | B'ALPHA | Serine/threonine protein phosphatase 2A 57 kDa regulatory subunit B' alpha isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93YV6 | B'KAPPA | Serine/threonine protein phosphatase 2A 57 kDa regulatory subunit B' kappa isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LF36 | B'THETA | Serine/threonine protein phosphatase 2A 57 kDa regulatory subunit B' theta isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQY6 | B'DELTA | Serine/threonine protein phosphatase 2A 55 kDa regulatory subunit B' delta isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LVE2 | B'ZETA | Serine/threonine protein phosphatase 2A 59 kDa regulatory subunit B' zeta isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RW96 | B'GAMMA | Serine/threonine protein phosphatase 2A 59 kDa regulatory subunit B' gamma isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LU89 | B'ETA | Serine/threonine protein phosphatase 2A 59 kDa regulatory subunit B' eta isoform | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSSSPPAGA | ASAAISASEK | VDGFTRKSVR | KAQRQKRSQG | SSQFRSQGSQ | AELHPLPQLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DATSNEQQEL | FCQKLQQCCI | LFDFMDSVSD | LKSKEIKRAT | LNELVEYVST | NRGVIVESAY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SDIVKMISAN | IFRTLPPSDN | PDFDPEEDEP | TLEASWPHIQ | LVYEFFLRFL | ESPDFQPSIA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KRYIDQKFVQ | QLLELFDSED | PRERDFLKTV | LHRIYGKFLG | LRAFIRKQIN | NIFLRFIYET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EHFNGVAELL | EILGSIINGF | ALPLKAEHKQ | FLMKVLIPMH | TAKGLALFHA | QLAYCVVQFL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKDTTLTEPV | IRGLLKFWPK | TCSQKEVMFL | GEIEEILDVI | EPTQFKKIEE | PLFKQISKCV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSSHFQVAER | ALYFWNNEYI | LSLIEENIDK | ILPIMFASLY | KISKEHWNPT | IVALVYNVLK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TLMEMNGKLF | DDLTSSYKAE | RQREKKKELE | REELWKKLEE | LKLKKALEKQ | NSAYNMHSIL |
| SNTSAE |