Q00005
PR
Gene name |
PPP2R2B |
Protein name |
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform |
Names |
PP2A subunit B isoform B55-beta, PP2A subunit B isoform PR55-beta, PP2A subunit B isoform R2-beta, PP2A subunit B isoform beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5521 |
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 Q00005
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q00005-F1 | Predicted | AlphaFoldDB |
272 variants for Q00005
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000662078 COSM1434962 CA361882052 COSM1434960 rs1554126530 |
40 | A>V | large_intestine Variant assessed as Somatic; impact. Spinocerebellar ataxia type 12 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001249300 CA16618135 RCV000484495 rs1064796487 |
110 | T>A | PPP2R2B-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3492514 RCV002550719 rs756684891 RCV000998452 |
405 | S>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1035695242 CA129612367 |
3 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 4 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA129612366 rs1032719138 |
5 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1253952124 CA361880664 |
6 | D>V | No |
ClinGen TOPMed |
|
|
CA3492886 rs531695576 |
7 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1582340081 CA361880652 |
7 | T>I | No |
ClinGen Ensembl |
|
|
CA361880659 rs531695576 |
7 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1180107768 CA361880641 |
9 | K>Q | No |
ClinGen gnomAD |
|
|
RCV000203056 rs10591869 |
10 | I>missing | No |
ClinVar dbSNP |
|
|
CA361880609 rs1181126645 |
11 | N>Y | No |
ClinGen TOPMed |
|
|
rs750037119 CA3492885 |
13 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 14 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467200063 CA361880544 |
17 | D>Y | No |
ClinGen TOPMed |
|
|
CA3492883 rs149163076 |
19 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1582339968 CA361880518 |
19 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 23 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371779801 CA3492819 |
29 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs952098536 CA129592310 |
30 | V>I | No |
ClinGen TOPMed |
|
|
CA3492817 rs746960550 |
31 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779750231 CA3492816 |
33 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3492815 rs758162694 |
35 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs11547494 VAR_051738 |
36 | G>V | No |
UniProt dbSNP |
|
| TCGA novel | 37 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 39 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 43 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561843480 CA361882037 |
43 | D>Y | No |
ClinGen Ensembl |
|
|
CA361882016 rs1225128664 |
46 | G>S | No |
ClinGen TOPMed |
|
|
rs767626129 CA3492810 |
47 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140556908 CA3492808 |
50 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3492809 rs760031788 |
50 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361881981 rs1205071204 |
52 | Q>E | No |
ClinGen TOPMed |
|
|
CA3492806 rs376773964 |
53 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs773031625 CA3492805 |
54 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA129592308 rs1024235712 |
54 | E>Q | No |
ClinGen TOPMed |
|
|
CA361881956 rs1450701618 |
56 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1450701618 CA361881954 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs925457722 CA129591979 |
57 | S>N | No |
ClinGen Ensembl |
|
|
rs554953457 CA3492785 |
59 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761597423 CA3492784 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs554953457 CA3492786 |
59 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361881910 rs1411018950 |
60 | Q>H | No |
ClinGen TOPMed |
|
|
rs201593853 CA3492782 |
61 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201593853 CA361881907 |
61 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3492781 rs746485595 |
62 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA129591978 rs746485595 |
62 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs979985733 COSM1595100 CA129591977 COSM1063872 |
63 | R>C | Variant assessed as Somatic; impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3492780 rs775290828 |
63 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361881894 rs775290828 |
63 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3492779 rs201880757 |
64 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389105487 CA361881882 |
65 | G>V | No |
ClinGen gnomAD |
|
|
rs1448040272 CA361881861 |
68 | N>S | No |
ClinGen gnomAD |
|
|
CA361881821 rs1244389079 |
74 | Q>E | No |
ClinGen gnomAD |
|
|
rs1581900866 CA361881789 |
78 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 79 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361881767 rs1276618139 |
81 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3492776 rs770684850 |
82 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA361881724 rs1208250082 |
87 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368021236 CA3492774 |
92 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361881674 rs1581900754 |
93 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 99 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780266823 CA3492771 |
99 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1338575941 CA361881621 |
101 | Q>K | No |
ClinGen gnomAD |
|
|
CA3492770 rs759038562 |
102 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA361881605 rs1369633533 |
103 | A>T | No |
ClinGen gnomAD |
|
|
rs750928881 CA3492769 |
106 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1231043577 CA361881577 |
107 | L>F | No |
ClinGen TOPMed |
|
|
CA361881567 rs1428276129 |
109 | S>P | No |
ClinGen gnomAD |
|
|
CA129591196 rs982645431 |
121 | S>T | No |
ClinGen Ensembl |
|
|
CA3492744 COSM1063862 COSM1595108 rs758998144 |
122 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361881454 COSM1434956 rs1373691645 COSM1434958 |
123 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs374783257 COSM1471867 COSM1471869 CA3492742 |
123 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762671662 CA3492741 |
124 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361881441 rs1392694103 |
125 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3492740 rs773124601 |
126 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 129 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3492738 rs747303834 |
133 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs113979436 CA129591195 |
133 | K>R | No |
ClinGen Ensembl |
|
|
rs772305092 CA3492736 |
136 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775806180 CA3492737 |
136 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_078654 | 138 | R>P | probable disease-associated variant found in a patient with moderate intellectual disability, authism and intractable epilepsy [UniProt] | No | UniProt |
|
CA361881352 rs1452386364 |
138 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3492735 rs745872914 |
138 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361881349 rs1254691315 |
139 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA129591193 rs749756339 |
140 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749756339 CA3492732 |
140 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757837294 CA3492733 |
140 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158087759 CA361881324 |
143 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1561836107 CA361881328 |
143 | A>T | No |
ClinGen Ensembl |
|
|
CA361881322 rs1467462637 |
144 | T>A | No |
ClinGen TOPMed |
|
|
CA361881299 rs1561836082 |
147 | T>I | No |
ClinGen Ensembl |
|
|
COSM1434950 CA3492730 COSM1434948 rs756415160 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1434954 CA361881292 rs778242934 COSM1434952 |
149 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA129586584 rs947918435 |
154 | R>K | No |
ClinGen Ensembl |
|
|
rs934828365 CA129586583 |
156 | M>I | No |
ClinGen TOPMed |
|
|
rs751179439 CA3492707 |
156 | M>L | No |
ClinGen ExAC |
|
|
rs1322927920 CA361882914 |
157 | D>V | No |
ClinGen TOPMed |
|
|
CA3492706 rs765961419 |
163 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3492705 rs757797492 |
164 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1371155769 CA361882870 |
164 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264408354 CA361882855 |
167 | V>I | No |
ClinGen TOPMed |
|
|
rs1043694004 CA129586580 |
170 | N>S | No |
ClinGen TOPMed |
|
|
rs201461777 COSM1239918 CA3492703 COSM1239916 |
171 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3492702 rs761710148 |
171 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs865944223 CA129586579 |
172 | H>Y | No |
ClinGen Ensembl |
|
|
CA361882817 rs1336999400 |
173 | T>A | No |
ClinGen gnomAD |
|
|
CA361882807 rs1249999583 |
174 | Y>C | No |
ClinGen gnomAD |
|
|
CA361882800 rs1229989085 |
175 | H>R | No |
ClinGen gnomAD |
|
|
CA3492701 rs776623362 |
179 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361882758 rs1413064015 |
181 | V>A | No |
ClinGen gnomAD |
|
|
rs774418279 CA3492698 |
182 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1056670927 CA361882735 |
184 | D>E | No |
ClinGen gnomAD |
|
|
rs370509105 CA129586577 |
185 | Y>* | No |
ClinGen Ensembl |
|
|
CA3492696 rs762905414 |
185 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368021752 CA129586576 |
186 | E>* | No |
ClinGen Ensembl |
|
|
rs373679856 CA129586575 |
186 | E>V | No |
ClinGen Ensembl |
|
|
rs773775007 CA3492695 |
189 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1542812 rs143485788 CA3492693 COSM1542814 |
191 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361882693 rs143485788 |
191 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768985337 CA3492691 |
201 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581792301 CA361882616 |
202 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 204 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746684718 CA3492690 COSM219990 |
205 | N>S | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361882582 rs1197986070 |
206 | Q>H | No |
ClinGen gnomAD |
|
|
rs779532921 CA3492689 |
206 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252224411 CA361882584 |
206 | Q>L | No |
ClinGen gnomAD |
|
|
CA129585244 rs778300398 |
211 | V>M | No |
ClinGen Ensembl |
|
|
CA361882498 rs1204693180 |
216 | A>V | No |
ClinGen gnomAD |
|
|
rs1025740307 CA129585242 |
217 | N>I | No |
ClinGen gnomAD |
|
|
CA129585241 rs994635792 |
218 | M>I | No |
ClinGen Ensembl |
|
|
rs1366805506 CA361882490 |
218 | M>L | No |
ClinGen TOPMed |
|
|
rs1240071606 CA361882467 |
220 | E>D | No |
ClinGen gnomAD |
|
|
CA3492673 rs199878645 |
222 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1442747334 CA361882429 |
226 | T>I | No |
ClinGen gnomAD |
|
|
CA3492670 rs745528968 |
229 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361882416 rs745528968 |
229 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361882395 rs200143467 |
231 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753851056 CA129585238 |
233 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753851056 CA3492667 |
233 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361882372 rs1392799845 |
235 | C>R | No |
ClinGen gnomAD |
|
|
rs150981315 CA3492666 RCV000762169 |
236 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361882353 rs1455847557 |
237 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361882355 rs1455847557 |
237 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA361882351 rs1254238405 |
238 | F>L | No |
ClinGen gnomAD |
|
|
rs371027373 CA3492664 |
239 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3492663 rs767333998 |
242 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA129585237 rs868221771 |
245 | G>E | No |
ClinGen Ensembl |
|
|
CA3492662 rs763154899 |
247 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3492661 rs750629860 COSM1595114 COSM1063853 |
248 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361882254 rs1236283215 |
252 | M>T | No |
ClinGen gnomAD |
|
|
CA3492659 rs761837375 |
253 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361882248 rs142634233 |
253 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428575057 CA361882242 |
254 | A>E | No |
ClinGen gnomAD |
|
|
CA3492656 rs761230588 |
257 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA129585236 rs181056992 |
261 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs1175107881 CA361882190 |
262 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361882177 rs1561793489 |
264 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs551016876 CA3492637 |
265 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148423117 CA3492636 COSM167894 |
268 | P>L | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA361881246 rs148423117 |
268 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202249315 CA361881231 |
270 | D>V | No |
ClinGen gnomAD |
|
|
rs1267137525 CA361881224 |
271 | P>R | No |
ClinGen TOPMed |
|
|
rs1273683664 CA361881218 |
272 | S>T | No |
ClinGen gnomAD |
|
|
rs774151829 CA3492633 |
275 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361881175 rs1209776227 |
278 | S>C | No |
ClinGen gnomAD |
|
|
rs867967245 CA129581512 |
282 | S>F | No |
ClinGen Ensembl |
|
|
COSM1063849 rs770649547 CA3492632 COSM1595118 |
283 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361881068 COSM1063847 COSM1595120 rs1277397270 |
285 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1224661147 CA361881049 |
286 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361881013 rs1417686897 |
289 | F>L | No |
ClinGen TOPMed |
|
|
CA361880989 rs1356673233 |
290 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3492629 rs372515064 |
294 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370282270 CA361880871 |
296 | I>V | No |
ClinGen TOPMed |
|
|
CA361880829 rs1392830222 |
298 | T>N | No |
ClinGen gnomAD |
|
|
CA3492626 rs754730796 |
300 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361880806 rs1303113592 |
300 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA129581511 rs1004275629 |
303 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3492622 COSM3765176 rs369931023 COSM3765174 |
304 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3492621 rs764126610 |
306 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1213838166 CA361880640 |
310 | N>H | No |
ClinGen gnomAD |
|
|
CA361880633 COSM1221795 COSM1221797 rs1396091274 |
310 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA361880624 rs1314166184 |
311 | M>L | No |
ClinGen TOPMed |
|
|
rs375376283 CA3492619 |
313 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768002675 CA3492618 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3492617 rs140308315 |
314 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147524300 CA3492614 |
318 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs905001520 CA129581509 |
319 | Y>H | No |
ClinGen TOPMed |
|
|
CA129580724 rs772315664 |
321 | V>I | No |
ClinGen Ensembl |
|
|
rs770113098 CA3492586 |
323 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129580723 rs965659495 |
323 | D>N | No |
ClinGen Ensembl |
|
|
COSM1328999 CA129580722 rs1019612179 COSM1328997 |
326 | R>C | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3492585 rs748318197 |
326 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361880399 rs748318197 |
326 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996672271 CA129580721 |
333 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361880300 rs1307490998 |
340 | D>A | No |
ClinGen gnomAD |
|
|
CA361880297 rs1196089408 |
340 | D>E | No |
ClinGen TOPMed |
|
|
rs1294043456 CA361880283 |
342 | F>S | No |
ClinGen gnomAD |
|
|
rs1256927990 CA361880277 |
343 | E>* | No |
ClinGen Ensembl |
|
|
CA3492581 rs149430113 |
345 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361880251 rs1478098044 |
346 | W>C | No |
ClinGen TOPMed |
|
|
CA3492580 rs758845118 |
346 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312297240 CA361880249 |
347 | N>D | No |
ClinGen gnomAD |
|
|
rs750854131 CA3492579 |
349 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA361880225 rs1172810275 |
350 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 351 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3492542 rs755636353 |
356 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs779114651 CA129580393 |
357 | S>P | No |
ClinGen Ensembl |
|
|
COSM95057 CA3492541 rs752263391 |
360 | N>K | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3492540 rs750703636 |
361 | F>* | No |
ClinGen ExAC gnomAD |
|
|
CA3492539 rs201722283 |
363 | R>G | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 363 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453782441 CA361879437 |
364 | M>I | No |
ClinGen gnomAD |
|
|
CA129580392 rs780774280 |
364 | M>L | No |
ClinGen Ensembl |
|
|
CA361879441 rs1192337652 |
364 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561746259 CA361879416 COSM1696481 |
366 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1348897020 CA361879359 |
367 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1288416480 CA361879325 |
368 | N>I | No |
ClinGen gnomAD |
|
|
COSM1319243 COSM1319245 rs370195005 CA129580391 |
371 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA3492536 rs766221987 |
371 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 378 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361879110 rs1317102245 |
382 | S>I | No |
ClinGen gnomAD |
|
|
CA3492532 rs747225370 |
383 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772255940 CA3492530 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775749080 CA3492531 |
385 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746408283 CA3492529 |
386 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1172095756 CA361879063 |
390 | P>S | No |
ClinGen gnomAD |
|
|
CA3492528 rs779246443 |
391 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3492527 rs771329667 |
392 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1154408 CA3492525 COSM76041 rs778098894 COSM3776401 |
395 | V>G | ovary Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3492526 rs534609251 |
395 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3492522 rs780732593 |
396 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3492523 rs780732593 |
396 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA16604713 rs778233469 RCV000437543 |
397 | G>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs767808084 | 397 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361879025 rs754401496 |
397 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778233469 CA129580388 |
397 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3492521 rs754401496 |
397 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754401496 CA361879026 |
397 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220733063 CA361879022 |
398 | K>E | No |
ClinGen gnomAD |
|
| rs767808084 | 398 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3492518 rs766165890 |
399 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3492519 rs751549602 |
399 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs762931345 CA3492517 |
402 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA129580387 rs750307654 |
402 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322055071 CA361878981 |
404 | I>F | No |
ClinGen TOPMed |
|
|
rs756684891 CA3492515 |
405 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772224747 COSM1130849 CA3492512 |
407 | D>N | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361878923 rs1403608405 |
412 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs936922576 CA129580386 |
414 | K>R | No |
ClinGen Ensembl |
|
|
CA361878878 rs1293709733 |
418 | T>I | No |
ClinGen gnomAD |
|
|
CA129580384 rs941787523 |
419 | A>T | No |
ClinGen TOPMed |
|
|
CA3492511 rs759465611 |
420 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1194407461 CA361878843 |
424 | E>K | No |
ClinGen gnomAD |
|
|
rs749797640 CA3492508 COSM1221791 COSM1221793 |
430 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs958565040 CA129580383 |
432 | T>A | No |
ClinGen TOPMed |
|
|
CA3492506 rs770124785 |
433 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1194024073 CA361878773 |
434 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361878710 rs1232149528 |
443 | N>S | No |
ClinGen gnomAD |
1 associated diseases with Q00005
[MIM: 604326]: Spinocerebellar ataxia 12 (SCA12)
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). {ECO:0000269|PubMed:10581021}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). {ECO:0000269|PubMed:10581021}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for Q00005
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 13 - 52 | IPR001680-1 |
| repeat | WD40 repeat | 79 - 119 | IPR001680-2 |
| repeat | WD40 repeat | 161 - 200 | IPR001680-3 |
| repeat | WD40 repeat | 211 - 251 | IPR001680-4 |
| repeat | WD40 repeat | 270 - 308 | IPR001680-5 |
| repeat | WD40 repeat | 402 - 439 | IPR001680-6 |
| conserved_site | Protein phosphatase 2A regulatory subunit PR55, conserved site | 79 - 93 | IPR018067-1 |
| conserved_site | Protein phosphatase 2A regulatory subunit PR55, conserved site | 170 - 184 | IPR018067-2 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
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 |
| Q66LE6 | PPP2R2D | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform | Homo sapiens (Human) | 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 |
| Q6ZWR4 | Ppp2r2b | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta 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 |
| Q6DIY3 | ppp2r2d | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q0D2F4 | ppp2r2b | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta 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 |
| MEEDIDTRKI | NNSFLRDHSY | ATEADIISTV | EFNHTGELLA | TGDKGGRVVI | FQREQESKNQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VHRRGEYNVY | STFQSHEPEF | DYLKSLEIEE | KINKIRWLPQ | QNAAYFLLST | NDKTVKLWKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SERDKRPEGY | NLKDEEGRLR | DPATITTLRV | PVLRPMDLMV | EATPRRVFAN | AHTYHINSIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VNSDYETYMS | ADDLRINLWN | FEITNQSFNI | VDIKPANMEE | LTEVITAAEF | HPHHCNTFVY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSSKGTIRLC | DMRASALCDR | HTKFFEEPED | PSNRSFFSEI | ISSISDVKFS | HSGRYIMTRD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YLTVKVWDLN | MENRPIETYQ | VHDYLRSKLC | SLYENDCIFD | KFECVWNGSD | SVIMTGSYNN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FFRMFDRNTK | RDVTLEASRE | NSKPRAILKP | RKVCVGGKRR | KDEISVDSLD | FSKKILHTAW |
| 430 | 440 | ||||
| HPSENIIAVA | ATNNLYIFQD | KVN |