Q14738
PR
Gene name |
PPP2R5D |
Protein name |
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform |
Names |
PP2A B subunit isoform B'-delta, PP2A B subunit isoform B56-delta, PP2A B subunit isoform PR61-delta, PP2A B subunit isoform R5-delta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5528 |
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
3 structures for Q14738
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8U1X | EM | 270 A | B | 1-602 | PDB |
| 8U89 | EM | 330 A | B | 1-602 | PDB |
| AF-Q14738-F1 | Predicted | AlphaFoldDB |
297 variants for Q14738
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001336932 rs1241116131 CA364175108 RCV001865856 |
34 | E>A | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA355020 VAR_069414 rs757369209 RCV000201513 |
53 | P>S | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome found in a patient with delayed psychomotor development, no speech and cataracts; no effect on binding to subunit PPP2CA; no effect on binding to subunit PPP2R1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1226113951 RCV001336933 CA364179059 |
54 | S>P | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001265486 rs1762094766 |
85 | R>* | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265484 rs1339608272 |
197 | E>G | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250808 CA325485 RCV000202284 rs863225081 |
197 | E>K | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA325481 COSM3949242 VAR_073708 rs863225082 |
198 | E>K | lung Variant assessed as Somatic; impact. MRD35; decreases binding to subunit PPP2CA; decreases binding to subunit PPP2R1A [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
rs1762135444 RCV001265482 |
200 | E>GH | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201454 RCV000202069 rs863225079 VAR_074491 CA325480 RCV001265718 |
200 | E>K | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Inborn genetic diseases MRD35; decreases binding to subunit PPP2CA; decreases binding to subunit PPP2R1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs876657383 RCV001267344 |
201 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10575693 VAR_073709 RCV000521503 RCV000170483 rs876657383 |
201 | P>R | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MRD35; decreases binding to subunit PPP2CA; decreases binding to subunit PPP2R1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074492 CA358858 RCV000201477 RCV001265481 RCV000307513 CA10603009 rs869320691 |
207 | W>R | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MRD35; decreases binding to subunit PPP2CA; decreases binding to subunit PPP2R1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001261947 rs1762136390 |
211 | Q>P | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257701 RCV001545039 RCV001726472 TCGA novel rs1762178779 |
250 | E>K | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Intellectual disability Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA364189066 RCV001249666 RCV000624493 rs1064794719 RCV002225692 |
251 | D>A | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1762178916 RCV002252351 RCV002537678 RCV001265485 |
251 | D>H | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16618288 RCV001169914 RCV000481705 rs1064794719 |
251 | D>V | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002226760 rs1762178916 RCV001266286 RCV001550149 RCV001779146 |
251 | D>Y | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Neurodevelopmental disorder Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265316 rs1131691266 RCV001552427 |
253 | R>P | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1079392 rs1131691266 CA364189186 RCV001696916 RCV000626280 |
253 | R>Q | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001265903 rs1762180593 |
263 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002550604 CA138249877 rs957822115 RCV000987704 |
265 | I>L | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001238222 RCV001266892 rs866594047 |
313 | L>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250807 RCV000202211 rs863225080 CA325483 RCV000624654 |
420 | E>K | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002542843 CA138213032 RCV001265483 rs375663526 RCV001566869 |
473 | F>L | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000924726 CA3812110 RCV003130092 rs139183911 |
520 | P>S | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000987705 rs1581863343 CA364142315 |
525 | P>L | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002508957 CA364142815 RCV001329550 rs1363040405 |
588 | H>Y | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1029888036 CA138241621 |
2 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364172574 rs1561835736 |
4 | K>E | No |
ClinGen Ensembl |
|
|
CA138241624 CA364172590 rs958700013 |
4 | K>N | No |
ClinGen gnomAD |
|
|
rs1203581990 CA364172781 |
9 | K>M | No |
ClinGen gnomAD |
|
|
rs1439101816 CA364174598 |
11 | P>H | No |
ClinGen TOPMed |
|
|
rs1181904491 CA364174589 |
11 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364174628 rs1306373469 |
12 | P>H | No |
ClinGen gnomAD |
|
|
rs1306373469 CA364174630 |
12 | P>L | No |
ClinGen gnomAD |
|
|
CA364174637 rs1264664886 |
13 | K>E | No |
ClinGen TOPMed |
|
|
rs144675117 CA3811719 |
13 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1241422647 CA364174822 |
19 | A>V | No |
ClinGen gnomAD |
|
|
rs773110780 CA3811722 |
21 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1190348868 CA364174862 |
22 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3811723 rs373458153 |
22 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 23 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3811724 RCV000900015 rs770645870 |
24 | S>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA364174938 rs1226397734 |
25 | G>C | No |
ClinGen TOPMed |
|
|
rs760781912 CA138243429 |
29 | G>R | No |
ClinGen Ensembl |
|
|
CA364175039 rs764794443 |
31 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3811727 rs764794443 |
31 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200268619 CA3811750 |
38 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1360349628 CA364178457 |
40 | P>L | No |
ClinGen gnomAD |
|
|
rs1286366363 CA364178430 |
40 | P>T | No |
ClinGen gnomAD |
|
|
rs891269934 CA138249332 |
41 | Q>E | No |
ClinGen TOPMed |
|
|
CA3811758 rs544371066 |
42 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766986033 CA3811757 |
42 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752822476 CA3811761 |
48 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3811763 rs370441625 |
49 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364178997 rs1561849382 |
52 | P>L | No |
ClinGen Ensembl |
|
|
CA364178975 rs1581851242 |
52 | P>T | No |
ClinGen Ensembl |
|
|
CA364179040 rs1421653493 |
53 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3811765 rs757369209 |
53 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1561849418 CA364179151 |
56 | N>H | No |
ClinGen Ensembl |
|
|
rs745843787 CA3811767 |
56 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1394527818 CA364179301 |
58 | R>C | No |
ClinGen gnomAD |
|
|
CA3811768 rs769440183 |
58 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3811769 rs376202873 |
59 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs867015757 CA138249398 |
61 | N>D | No |
ClinGen Ensembl |
|
|
rs1038667663 CA138249400 |
62 | S>C | No |
ClinGen TOPMed |
|
|
CA364179505 rs1038667663 |
62 | S>G | No |
ClinGen TOPMed |
|
|
CA3811770 rs370244516 |
63 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1000620573 CA138249409 |
64 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 67 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193111263 CA364179925 |
72 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776953962 CA3811775 |
73 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760120524 CA3811776 |
75 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3811777 rs199635607 |
76 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3811778 rs199635607 |
76 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364180156 rs1281707054 |
77 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138249420 rs763375514 |
79 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA3811779 rs763375514 |
79 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3811780 rs764271969 |
82 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1192439638 CA364180429 |
85 | R>Q | No |
ClinGen TOPMed |
|
|
CA364180463 rs751831580 |
86 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364180470 rs751831580 |
86 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3811783 rs781367211 |
87 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA138249425 rs1024917557 |
89 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3811784 rs750265500 |
91 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1000886256 CA138249430 |
91 | R>H | No |
ClinGen gnomAD |
|
|
rs1160346330 CA364180953 |
93 | N>I | No |
ClinGen gnomAD |
|
|
CA364180949 rs1160346330 |
93 | N>S | No |
ClinGen gnomAD |
|
|
rs1207959150 CA364180973 |
94 | L>H | No |
ClinGen TOPMed |
|
|
rs1391246474 CA364180987 |
95 | S>G | No |
ClinGen gnomAD |
|
|
CA138249431 rs756087744 |
95 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756087744 CA3811785 |
95 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364181092 rs1369793954 |
98 | R>Q | No |
ClinGen TOPMed |
|
|
CA3811786 rs779909900 |
98 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749101236 CA364181763 |
99 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277257630 CA364181862 |
105 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364181860 rs1277257630 |
105 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1442240259 CA364182042 |
108 | D>G | No |
ClinGen gnomAD |
|
|
rs1349567425 CA364181908 |
108 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3811809 rs778881166 |
109 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs758055871 CA3811811 |
112 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1309159375 CA364182200 |
113 | E>D | No |
ClinGen TOPMed |
|
|
rs1422741944 CA364182224 |
114 | R>Q | No |
ClinGen Ensembl |
|
|
CA3811813 rs746495895 |
123 | R>S | No |
ClinGen ExAC |
|
|
CA3811814 rs770394907 |
128 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA364182681 COSM596636 rs1437337804 |
132 | V>M | lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1457044199 CA364182722 |
134 | D>Y | No |
ClinGen TOPMed |
|
|
rs776013892 CA3811815 |
137 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364182866 COSM140560 rs1474342051 |
139 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs970629365 CA138249544 |
150 | N>S | No |
ClinGen TOPMed |
|
|
rs1396335564 CA364183306 |
152 | M>I | No |
ClinGen gnomAD |
|
|
CA364183339 rs1379668506 |
153 | V>L | No |
ClinGen TOPMed |
|
|
CA3811819 rs762227983 |
154 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 155 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252697092 CA364183426 |
156 | I>V | No |
ClinGen TOPMed |
|
|
CA138249562 rs760788341 |
157 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3811822 rs760788341 |
157 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745640382 CA3811823 |
158 | H>L | No |
ClinGen ExAC |
|
|
CA3811825 rs753788029 |
159 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1079390 rs1554131695 CA364183545 |
160 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs370834231 CA3811826 |
160 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140136483 CA3811828 |
163 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364183706 rs1206033597 |
165 | E>Q | No |
ClinGen gnomAD |
|
|
CA138249572 rs1013827679 |
172 | V>I | No |
ClinGen Ensembl |
|
|
rs1191089174 CA364184450 |
180 | F>L | No |
ClinGen gnomAD |
|
|
COSM1079391 rs779372850 CA3811855 |
182 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1176068332 CA364184581 |
184 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1379069351 CA364184654 |
186 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367737499 CA3811858 |
196 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364185129 rs1339608272 |
197 | E>A | No |
ClinGen TOPMed |
|
|
CA364185178 rs747197366 |
198 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1436951893 CA364185220 |
199 | D>G | No |
ClinGen gnomAD |
|
|
rs139862592 CA138249638 |
201 | P>S | No |
ClinGen ESP |
|
| TCGA novel | 202 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370077576 CA364185468 |
206 | A>G | No |
ClinGen gnomAD |
|
|
rs747304414 CA3811879 |
219 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs757744141 CA3811880 |
220 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs771015575 CA138249696 |
224 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3811882 rs746122664 |
228 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA364187777 rs1381167866 |
230 | I>L | No |
ClinGen gnomAD |
|
|
rs1479382253 CA364187815 |
231 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3811883 rs149677026 |
235 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252182248 CA364188148 |
236 | D>N | No |
ClinGen gnomAD |
|
|
CA364188260 rs1423239300 |
238 | K>N | No |
ClinGen TOPMed |
|
|
rs1168674508 CA364188274 |
239 | F>S | No |
ClinGen TOPMed |
|
|
CA3811886 rs768469399 |
240 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774390874 CA3811887 |
241 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3811888 rs761494736 |
242 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA364188402 rs761494736 |
242 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1360552777 CA364189007 |
250 | E>G | No |
ClinGen gnomAD |
|
|
rs1228268863 CA364189153 |
252 | P>H | No |
ClinGen gnomAD |
|
|
rs770485035 CA364189403 |
257 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138249872 rs1032685864 |
261 | I>S | No |
ClinGen Ensembl |
|
|
CA3811911 rs377074711 |
261 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 263 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3811912 rs758921014 |
264 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1079393 rs764831855 CA3811913 |
264 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA364189908 rs1171848197 |
272 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364189929 rs1446385188 |
273 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364190265 rs1178737190 |
285 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356070915 CA364190518 |
288 | I>V | No |
ClinGen TOPMed |
|
|
rs1437917476 CA364190609 |
291 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 292 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340255954 CA364190677 |
293 | H>R | No |
ClinGen gnomAD |
|
|
rs775123223 CA3811933 |
294 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364190788 rs768102492 |
295 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762616717 CA3811934 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364190852 rs1236368485 |
297 | I>T | No |
ClinGen TOPMed |
|
|
rs1444240877 CA364191140 |
305 | G>C | No |
ClinGen gnomAD |
|
|
CA364191456 rs1165406603 |
309 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 318 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3811959 rs752966764 |
322 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757204813 CA3811963 |
338 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364192316 rs1373169420 |
340 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3811966 rs537608167 |
340 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA138250004 rs868762076 |
344 | A>T | No |
ClinGen Ensembl |
|
|
rs538285910 CA138250005 |
344 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1178818788 CA364192500 |
348 | V>A | No |
ClinGen TOPMed |
|
|
rs1372805861 CA364192537 |
350 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3811984 rs780004512 |
360 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138250007 rs558249305 |
360 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs959720391 CA138250050 |
362 | I>T | No |
ClinGen Ensembl |
|
|
rs1330473604 CA364192949 |
363 | V>L | No |
ClinGen gnomAD |
|
|
rs1262814424 CA364193262 |
375 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3812001 rs760706379 |
390 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766484400 CA3812002 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754862085 CA3812004 |
396 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs778608571 CA3812005 |
397 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364193817 rs1367749984 |
397 | S>R | No |
ClinGen gnomAD |
|
|
rs1316815266 CA364193802 |
397 | S>T | No |
ClinGen TOPMed |
|
|
CA364193909 rs1581858745 |
401 | E>D | No |
ClinGen Ensembl |
|
|
CA364193972 rs1581858764 |
404 | F>S | No |
ClinGen Ensembl |
|
|
rs757857436 CA3812007 |
405 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3812010 rs563075519 |
412 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 417 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934509389 CA138250083 |
421 | R>S | No |
ClinGen TOPMed |
|
|
CA3812029 rs756805489 |
423 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA364194350 rs1301440108 |
424 | Y>C | No |
ClinGen gnomAD |
|
|
rs1317721385 CA364194423 |
429 | E>Q | No |
ClinGen gnomAD |
|
|
CA364194448 rs1430574510 |
431 | I>V | No |
ClinGen TOPMed |
|
|
rs1274984570 CA364194511 |
435 | I>M | No |
ClinGen gnomAD |
|
|
CA3812032 rs755300874 |
435 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319780358 CA364194530 |
437 | D>G | No |
ClinGen TOPMed |
|
|
rs1207810886 CA364194567 |
440 | A>G | No |
ClinGen gnomAD |
|
|
rs779162472 CA3812033 |
440 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581859267 CA364194571 |
441 | R>* | No |
ClinGen Ensembl |
|
|
CA3812034 rs748607156 |
441 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812036 rs773527644 |
442 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1561851877 CA364194668 |
449 | A>V | No |
ClinGen Ensembl |
|
|
rs142172312 CA3812042 |
460 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581862180 CA364141341 |
461 | T>A | No |
ClinGen Ensembl |
|
|
rs930548289 CA138213016 |
466 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769587866 CA3812060 |
475 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA138213035 rs940539267 |
476 | M>I | No |
ClinGen Ensembl |
|
|
rs1581862256 CA364141835 |
478 | Q>H | No |
ClinGen Ensembl |
|
|
rs773924731 CA3812064 |
486 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3812086 rs772904155 |
496 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370854735 CA3812087 |
496 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3812085 rs772904155 |
496 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753080336 CA3812088 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472078478 CA364142118 |
499 | M>I | No |
ClinGen gnomAD |
|
|
CA364142130 rs1460199560 |
501 | E>Q | No |
ClinGen TOPMed |
|
|
rs763531072 CA3812089 |
503 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413917107 CA364142181 |
507 | Q>R | No |
ClinGen gnomAD |
|
|
rs375119884 CA364142199 |
509 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166331444 CA364142221 |
513 | A>T | No |
ClinGen gnomAD |
|
|
rs1369550378 CA364142229 |
514 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA364142275 rs1177208732 |
519 | Y>C | No |
ClinGen gnomAD |
|
|
COSM220182 rs374997642 CA3812112 |
523 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA3812113 rs767996020 |
525 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812114 rs767996020 |
525 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138213375 rs767659728 |
528 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756344722 CA3812115 |
529 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3812117 rs140491750 |
530 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3812116 rs140491750 |
530 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312995451 CA364142343 |
531 | V>L | No |
ClinGen TOPMed |
|
|
CA3812120 rs371525743 |
533 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364142362 rs777638824 |
534 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs777638824 CA3812122 |
534 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3812121 rs374641439 |
534 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746840191 CA3812123 |
535 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770585329 CA3812124 |
536 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1410172198 CA364142379 |
537 | E>K | No |
ClinGen TOPMed |
|
|
CA3812127 rs769459377 COSM1444610 |
540 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1329546134 CA364142399 |
540 | T>P | No |
ClinGen gnomAD |
|
|
CA3812128 rs774927174 |
541 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA364142420 rs1238401994 |
543 | D>A | No |
ClinGen Ensembl |
|
|
rs1227119131 CA364142436 |
545 | Q>L | No |
ClinGen gnomAD |
|
|
CA364142460 rs1581863595 |
549 | R>W | No |
ClinGen Ensembl |
|
|
CA364142478 rs1422854091 |
552 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 554 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3812144 rs550881684 |
558 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364142557 rs1270505930 |
561 | D>G | No |
ClinGen gnomAD |
|
|
rs1383973767 CA364142568 |
562 | I>M | No |
ClinGen gnomAD |
|
|
rs780114687 CA3812145 |
563 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3812147 rs748872388 |
565 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772602621 CA3812148 |
566 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3812150 rs761054959 |
567 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 568 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138213553 rs1025433427 |
570 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3812152 rs374855545 |
570 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364142625 rs1581864211 |
572 | K>* | No |
ClinGen Ensembl |
|
|
CA364142630 rs1267132197 |
572 | K>N | No |
ClinGen TOPMed |
|
|
rs748219258 CA138213566 |
573 | S>L | No |
ClinGen gnomAD |
|
|
CA3812155 rs752770734 |
574 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762989587 CA3812156 |
575 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 579 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780858279 CA3812160 |
579 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364142719 rs1561853368 |
581 | T>A | No |
ClinGen Ensembl |
|
|
CA3812163 rs779890347 |
584 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748788574 RCV000998603 CA3812164 |
587 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs778306387 CA3812166 |
589 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA364142846 rs1320159703 |
590 | R>Q | No |
ClinGen TOPMed |
|
|
CA3812167 rs747480052 |
590 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3812168 rs566067415 |
591 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3812170 rs759962644 |
592 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364142932 rs1463790539 |
597 | A>G | No |
ClinGen gnomAD |
|
|
rs1355504779 CA364142928 |
597 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 601 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581864451 CA364143032 |
603 | L>C | No |
ClinGen Ensembl |
1 associated diseases with Q14738
[MIM: 616355]: Intellectual developmental disorder, autosomal dominant 35 (MRD35)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:26168268}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:26168268}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q14738
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14738 | |||
4 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| 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 |
| Q15172 | PPP2R5A | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform | Homo sapiens (Human) | 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 |
| 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 |
| MPYKLKKEKE | PPKVAKCTAK | PSSSGKDGGG | ENTEEAQPQP | QPQPQPQAQS | QPPSSNKRPS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NSTPPPTQLS | KIKYSGGPQI | VKKERRQSSS | RFNLSKNREL | QKLPALKDSP | TQEREELFIQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLRQCCVLFD | FVSDPLSDLK | FKEVKRAGLN | EMVEYITHSR | DVVTEAIYPE | AVTMFSVNLF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RTLPPSSNPT | GAEFDPEEDE | PTLEAAWPHL | QLVYEFFLRF | LESPDFQPNI | AKKYIDQKFV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LALLDLFDSE | DPRERDFLKT | ILHRIYGKFL | GLRAYIRRQI | NHIFYRFIYE | TEHHNGIAEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEILGSIING | FALPLKEEHK | MFLIRVLLPL | HKVKSLSVYH | PQLAYCVVQF | LEKESSLTEP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VIVGLLKFWP | KTHSPKEVMF | LNELEEILDV | IEPSEFSKVM | EPLFRQLAKC | VSSPHFQVAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RALYYWNNEY | IMSLISDNAA | RVLPIMFPAL | YRNSKSHWNK | TIHGLIYNAL | KLFMEMNQKL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FDDCTQQYKA | EKQKGRFRMK | EREEMWQKIE | ELARLNPQYP | MFRAPPPLPP | VYSMETETPT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AEDIQLLKRT | VETEAVQMLK | DIKKEKVLLR | RKSELPQDVY | TIKALEAHKR | AEEFLTASQE |
| AL |