P43378
Gene name |
PTPN9 |
Protein name |
Tyrosine-protein phosphatase non-receptor type 9 |
Names |
Protein-tyrosine phosphatase MEG2, PTPase MEG2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5780 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
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
8 structures for P43378
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2PA5 | X-ray | 160 A | A/B | 277-582 | PDB |
| 4GE2 | X-ray | 180 A | A/B | 277-582 | PDB |
| 4GE5 | X-ray | 200 A | A/B | 277-582 | PDB |
| 4GE6 | X-ray | 140 A | A/B | 277-582 | PDB |
| 4ICZ | X-ray | 190 A | A | 277-582 | PDB |
| 6KZQ | X-ray | 170 A | A | 277-583 | PDB |
| 6L03 | X-ray | 208 A | A | 277-583 | PDB |
| AF-P43378-F1 | Predicted | AlphaFoldDB |
365 variants for P43378
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs111365423 CA272928255 |
2 | E>V | No |
ClinGen Ensembl |
|
|
rs1237928997 CA393458492 |
3 | P>H | No |
ClinGen TOPMed |
|
|
CA393458487 rs1595975683 |
4 | A>P | No |
ClinGen Ensembl |
|
|
CA393458448 rs1284758946 |
8 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1349007812 CA393458442 |
8 | R>P | No |
ClinGen Ensembl |
|
|
CA393458445 rs1284758946 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs553966465 CA272928242 |
10 | D>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7668438 rs760850802 |
11 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253782595 CA393458419 |
11 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1161089495 CA393458398 |
12 | A>V | No |
ClinGen gnomAD |
|
|
CA393458389 rs1406642954 |
13 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393458357 rs1595975649 |
16 | T>I | No |
ClinGen Ensembl |
|
|
rs1260444481 CA393458349 |
17 | P>R | No |
ClinGen Ensembl |
|
|
CA393458352 rs1158559646 |
17 | P>S | No |
ClinGen gnomAD |
|
|
CA393458329 rs1555458060 |
19 | E>* | No |
ClinGen Ensembl |
|
|
CA393458281 rs1444388765 |
21 | Q>E | No |
ClinGen TOPMed |
|
|
CA7668421 rs369859591 |
22 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7668420 rs755396738 |
23 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1220533901 CA393469687 |
24 | K>E | No |
ClinGen gnomAD |
|
|
CA7668419 rs114063444 |
24 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7668417 rs375533645 |
28 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937186808 CA272931724 |
30 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1469606982 CA393469427 |
31 | N>S | No |
ClinGen gnomAD |
|
|
rs1433936226 CA393469371 |
33 | W>* | No |
ClinGen gnomAD |
|
|
CA393469378 rs1178706660 |
33 | W>G | No |
ClinGen gnomAD |
|
|
rs1419116045 CA393469331 |
36 | Q>E | No |
ClinGen gnomAD |
|
|
CA393469318 rs1184825046 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
CA272931717 rs920493765 |
38 | N>K | No |
ClinGen gnomAD |
|
|
CA7668415 rs767473464 |
38 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668414 rs761905346 |
39 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA272931711 rs1037662041 |
40 | S>F | No |
ClinGen Ensembl |
|
|
CA393469177 rs1405039827 |
41 | P>L | No |
ClinGen TOPMed |
|
|
CA393469129 rs1360568062 |
44 | W>R | No |
ClinGen TOPMed |
|
|
CA393468977 rs1460823561 |
49 | K>N | No |
ClinGen gnomAD |
|
|
CA393468986 rs1394582559 |
49 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768801786 CA7668412 |
52 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393468895 rs1212009842 |
53 | A>P | No |
ClinGen gnomAD |
|
|
rs1163576337 CA393468864 |
54 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1312376406 CA393468832 |
55 | K>R | No |
ClinGen gnomAD |
|
|
rs745898435 CA7668411 |
58 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114183309 CA7668410 |
60 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs538521905 CA7668409 |
60 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7668408 rs745765863 |
61 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567504061 CA393468586 |
62 | I>M | No |
ClinGen Ensembl |
|
|
CA7668407 rs781132549 |
65 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668406 rs146997520 |
68 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393468374 rs1233526588 |
69 | R>K | No |
ClinGen Ensembl |
|
|
CA393466886 rs1371430213 |
72 | R>G | No |
ClinGen gnomAD |
|
|
rs771890256 CA7668385 |
72 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272930019 rs771890256 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366629650 CA393466799 |
76 | G>R | No |
ClinGen gnomAD |
|
|
rs1366629650 CA393466802 |
76 | G>S | No |
ClinGen gnomAD |
|
|
CA393466766 rs1166907039 |
78 | V>I | No |
ClinGen gnomAD |
|
|
rs1010966122 CA272930004 |
81 | K>N | No |
ClinGen Ensembl |
|
|
rs778660352 CA7668383 |
82 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7668382 rs756467948 |
83 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs781566496 CA7668380 |
84 | E>A | No |
ClinGen ExAC |
|
|
rs998964264 CA272929986 |
84 | E>K | No |
ClinGen TOPMed |
|
|
rs751709167 CA7668378 |
88 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7668377 rs141342401 |
88 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7668376 rs147821578 |
91 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393466443 rs1246087039 |
93 | S>R | No |
ClinGen gnomAD |
|
|
CA7668374 rs150017042 |
98 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7668373 rs759261267 |
99 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7668359 rs757748650 |
102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221340132 CA393466123 |
102 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs374568016 CA7668357 |
104 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7668358 rs747532714 |
104 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1302021492 CA393466093 |
105 | T>A | No |
ClinGen gnomAD |
|
|
rs1329409957 CA393466087 |
105 | T>I | No |
ClinGen TOPMed |
|
|
CA7668356 rs758473931 |
107 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390142423 CA393466064 |
109 | I>T | No |
ClinGen gnomAD |
|
|
rs140490690 CA7668355 |
109 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7668354 rs779059956 |
111 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs755223048 CA7668353 |
113 | T>S | No |
ClinGen ExAC |
|
| TCGA novel | 115 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305256383 CA393465936 |
117 | H>R | No |
ClinGen TOPMed |
|
|
CA7668351 rs766174800 |
120 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs760497443 CA7668350 |
121 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7668349 rs376906988 |
125 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773901742 CA7668346 |
130 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773901742 CA7668347 |
130 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA393465561 rs142284706 |
133 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990105299 CA272929513 |
140 | D>H | No |
ClinGen Ensembl |
|
|
CA7668326 rs762326530 |
142 | F>I | No |
ClinGen ExAC |
|
|
CA7668325 rs775209859 |
143 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA393463754 rs1342752736 |
145 | Q>E | No |
ClinGen gnomAD |
|
|
CA393463679 rs1283579686 |
147 | N>K | No |
ClinGen gnomAD |
|
|
CA393463617 rs1388099911 |
150 | V>A | No |
ClinGen TOPMed |
|
|
CA393463624 rs761083078 |
150 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761083078 CA7668323 |
150 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs1325317760 | 155 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393463461 rs1334578051 |
157 | G>D | No |
ClinGen gnomAD |
|
|
CA7668321 rs772606890 |
159 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA7668320 rs371548349 |
160 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169904099 CA393463401 |
161 | A>S | No |
ClinGen gnomAD |
|
|
rs1277376034 CA393463377 |
162 | N>S | No |
ClinGen TOPMed |
|
|
rs779240050 CA7668319 |
166 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA272927272 rs372777107 |
166 | D>Y | No |
ClinGen ESP TOPMed |
|
|
CA393463224 rs1381362325 |
170 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1474062695 CA393463157 |
173 | N>H | No |
ClinGen gnomAD |
|
|
rs749260648 CA7668317 |
176 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752320396 CA7668289 |
178 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs764715102 CA7668288 |
182 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754427368 CA7668287 |
182 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668285 rs140000948 |
183 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393459004 rs1456334575 |
184 | K>R | No |
ClinGen TOPMed |
|
|
CA272922956 rs905992844 |
185 | K>N | No |
ClinGen Ensembl |
|
|
CA7668284 rs762260127 |
185 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1183352954 CA393458966 |
187 | L>P | No |
ClinGen gnomAD |
|
|
CA393458923 rs1250554019 |
191 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA393458921 rs1250554019 |
191 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7668282 rs764699404 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368001478 CA7668280 |
193 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1244773383 CA393458868 |
195 | F>V | No |
ClinGen gnomAD |
|
|
rs1320422354 CA393458853 |
196 | R>Q | No |
ClinGen gnomAD |
|
|
CA7668279 rs770004306 |
198 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs537929670 CA7668278 |
199 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411743297 CA393458803 |
200 | S>Y | No |
ClinGen gnomAD |
|
|
CA393458794 rs1292997941 |
201 | I>V | No |
ClinGen gnomAD |
|
|
CA7668276 rs771038986 |
203 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7668273 rs772106450 |
208 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs748050343 CA7668272 |
209 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929256343 CA272922894 |
211 | R>Q | No |
ClinGen TOPMed |
|
|
rs370125636 CA7668271 |
211 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393458643 rs1285264131 |
213 | R>G | No |
ClinGen TOPMed |
|
|
CA393458641 rs1567492744 |
213 | R>K | No |
ClinGen Ensembl |
|
|
CA393457288 rs1272764588 |
215 | Q>R | No |
ClinGen TOPMed |
|
|
CA272921587 rs952416662 |
218 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs758717324 CA7668245 |
218 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA393457200 rs1441610912 |
219 | T>I | No |
ClinGen gnomAD |
|
|
rs1441610912 CA393457201 |
219 | T>K | No |
ClinGen gnomAD |
|
|
rs753093738 CA7668244 |
220 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765888385 CA7668243 |
223 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393457109 rs1318329912 |
223 | T>S | No |
ClinGen gnomAD |
|
|
rs1476259453 CA393457049 |
225 | H>Q | No |
ClinGen TOPMed |
|
|
rs1240182518 CA393457058 |
225 | H>R | No |
ClinGen TOPMed |
|
|
rs754031967 CA7668241 |
229 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393456913 rs1194008529 |
231 | L>V | No |
ClinGen TOPMed |
|
|
rs1449429317 CA393456856 |
233 | E>G | No |
ClinGen gnomAD |
|
|
rs1416713349 CA393456882 |
233 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 234 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889232276 CA272921538 |
234 | N>Y | No |
ClinGen TOPMed |
|
|
rs760742888 CA7668239 |
236 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393456747 rs1447877555 |
238 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs530559093 CA7668236 |
239 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393456703 rs1347370561 |
240 | K>R | No |
ClinGen gnomAD |
|
|
rs774100050 CA7668235 |
241 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668231 rs769188751 |
244 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7668232 rs144459324 |
244 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1595956163 CA393456625 |
247 | N>D | No |
ClinGen Ensembl |
|
|
CA393456586 rs1326871706 |
249 | Q>L | No |
ClinGen gnomAD |
|
|
CA393456569 rs1333243473 |
250 | F>L | No |
ClinGen gnomAD |
|
|
rs1393972245 CA393456538 |
253 | Q>H | No |
ClinGen gnomAD |
|
|
CA393456526 rs1376859497 |
254 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353811108 CA393456533 |
254 | V>M | No |
ClinGen TOPMed |
|
|
CA7668230 rs146156674 |
255 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144499352 CA7668228 |
256 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA393456434 rs1170216555 |
260 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393456424 rs1350008531 |
261 | F>V | No |
ClinGen TOPMed |
|
|
rs779410388 CA7668226 |
262 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668224 rs754307529 |
264 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs766870073 CA7668223 |
265 | I>F | No |
ClinGen ExAC |
|
|
CA7668221 rs373098861 |
265 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1291261300 CA393456251 |
268 | S>F | No |
ClinGen gnomAD |
|
|
rs767671900 CA393456229 |
269 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767671900 CA7668220 |
269 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668219 rs762017100 |
270 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272921475 rs890747262 |
271 | P>L | No |
ClinGen Ensembl |
|
|
CA7668217 rs763887441 |
273 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762666594 CA7668216 |
274 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376495976 CA7668215 |
275 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116470185 CA272921460 |
275 | W>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7668214 rs769718806 |
278 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA393455967 rs1368586210 |
279 | H>D | No |
ClinGen TOPMed |
|
|
CA7668213 rs745414592 |
281 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1028996748 CA272921445 |
283 | P>T | No |
ClinGen Ensembl |
|
|
CA7668212 rs776203851 |
284 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs770767796 CA7668211 |
285 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1368231884 CA393455707 |
286 | M>I | No |
ClinGen gnomAD |
|
|
CA272921427 CA393455483 rs996540030 |
292 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393455475 rs1161851120 |
293 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559576371 CA272921406 |
297 | A>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA272921421 rs560249411 |
297 | A>T | No |
ClinGen Ensembl |
|
|
CA393455349 rs559576371 |
297 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 298 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393455175 rs1328117883 |
304 | Y>* | No |
ClinGen gnomAD |
|
|
rs937767972 CA272921402 |
307 | Y>* | No |
ClinGen TOPMed |
|
|
rs1312676573 CA393455080 |
308 | E>D | No |
ClinGen TOPMed |
|
|
rs200342452 CA393455068 |
309 | D>A | No |
ClinGen ESP gnomAD |
|
|
rs200342452 CA272921401 |
309 | D>V | No |
ClinGen ESP gnomAD |
|
|
CA7668209 rs777502335 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs893813224 CA272921396 |
312 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs146356869 CA7668208 |
312 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146356869 CA393454976 |
312 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs541229442 CA7668206 |
313 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7668207 rs541229442 |
313 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7668205 rs149279759 |
314 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370139184 CA7668203 |
316 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757267318 CA7668202 |
321 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1595956094 CA393454707 |
322 | S>C | No |
ClinGen Ensembl |
|
|
CA393454701 rs1256412687 |
323 | M>L | No |
ClinGen TOPMed |
|
|
CA7668189 rs780462038 |
324 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7668187 rs774808504 |
325 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7668188 rs770259983 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7668186 rs781608991 |
326 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA393449011 rs781608991 |
326 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1372318614 CA393448984 |
328 | L>V | No |
ClinGen gnomAD |
|
|
CA272910278 rs200903438 |
329 | E>K | No |
ClinGen 1000Genomes |
|
| TCGA novel | 332 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370988548 CA393448912 |
333 | Y>S | No |
ClinGen TOPMed |
|
|
CA7668185 rs757356597 |
339 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1175564642 CA393448753 |
345 | K>Q | No |
ClinGen gnomAD |
|
|
rs778014922 CA7668183 |
347 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758645507 CA7668182 |
349 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393448696 rs758645507 |
349 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1484731220 CA393448685 |
350 | S>I | No |
ClinGen gnomAD |
|
|
CA7668181 rs192954004 |
352 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7668180 rs765097713 |
354 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA393445149 rs1212416571 |
357 | Y>D | No |
ClinGen gnomAD |
|
|
CA393445070 rs1273270542 |
359 | N>S | No |
ClinGen gnomAD |
|
|
CA393444662 rs758355506 |
368 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393444643 rs1247300943 |
369 | K>* | No |
ClinGen TOPMed |
|
|
rs1036032774 CA272902939 |
370 | N>S | No |
ClinGen TOPMed |
|
|
rs778963922 CA7668161 |
373 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7668162 rs752970552 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs868267683 CA272900087 |
378 | P>L | No |
ClinGen Ensembl |
|
|
rs779982140 CA7668139 |
381 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668135 rs767314169 |
383 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668136 rs750389235 |
383 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs756811878 CA7668134 |
384 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs186045366 CA7668133 |
384 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393440628 rs1255330227 |
390 | V>A | No |
ClinGen gnomAD |
|
|
CA393440642 rs1467509950 |
390 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1013135078 CA393440556 |
394 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1013135078 CA272900051 |
394 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1250526505 CA393439991 |
396 | L>W | No |
ClinGen gnomAD |
|
|
rs760990870 CA7668127 |
403 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs773793387 CA7668126 |
403 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1255523419 CA393482570 |
405 | E>K | No |
ClinGen gnomAD |
|
|
rs757841659 CA7668113 |
407 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7668110 rs761078819 |
408 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs768137697 CA7668108 |
412 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA272915718 rs760155067 |
413 | G>S | No |
ClinGen Ensembl |
|
|
rs547836130 CA7668107 |
414 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1368877291 CA393482350 |
414 | Q>R | No |
ClinGen gnomAD |
|
|
CA393482224 rs1383601489 |
419 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774862716 CA393482158 |
421 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272915707 rs979297605 |
422 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs763085113 CA7668104 |
423 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7668105 rs768858532 |
423 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs138474126 CA7668103 |
424 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7668102 rs770114056 |
425 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7668101 rs745713152 |
425 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393482091 rs745713152 |
425 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393482089 rs745713152 |
425 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338413537 CA393481939 |
431 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393481878 rs1429366646 |
433 | N>S | No |
ClinGen gnomAD |
|
|
CA7668099 rs370582138 |
436 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393481740 rs1263917869 |
439 | M>V | No |
ClinGen TOPMed |
|
|
CA272915652 rs961245487 |
441 | H>Q | No |
ClinGen TOPMed |
|
|
CA393481561 rs777730659 |
442 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668097 rs777730659 |
442 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668096 rs150528240 |
446 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552177179 CA7668095 |
446 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 448 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292215154 CA393481308 |
451 | N>H | No |
ClinGen gnomAD |
|
|
rs1412531654 CA393481294 |
451 | N>S | No |
ClinGen gnomAD |
|
|
CA393481251 rs1453114485 |
452 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7668071 rs751926493 |
455 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751926493 CA7668070 |
455 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668072 rs779716989 |
455 | R>W | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1019576408 CA272915281 |
456 | Q>* | No |
ClinGen Ensembl |
|
|
CA7668069 rs764734452 |
456 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370340509 CA7668068 |
458 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1007808448 CA272915279 |
458 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1216667988 CA393480950 |
459 | Q>* | No |
ClinGen TOPMed |
|
|
rs752879409 CA7668067 |
464 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393480766 rs1183972897 |
465 | F>L | No |
ClinGen gnomAD |
|
|
CA393480633 rs1458139337 |
470 | D>Y | No |
ClinGen gnomAD |
|
|
CA7668065 rs369309692 |
471 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369309692 CA7668066 |
471 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215206811 CA393480192 |
481 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393480029 rs1280766894 |
485 | R>K | No |
ClinGen gnomAD |
|
|
rs772988079 CA7668061 |
489 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393479705 rs1370851647 |
494 | A>S | No |
ClinGen gnomAD |
|
|
rs1439473723 CA393479696 |
495 | V>M | No |
ClinGen TOPMed |
|
|
rs748092690 CA7668059 |
498 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1317983377 CA393479552 |
499 | G>A | No |
ClinGen gnomAD |
|
|
rs774206319 CA7668058 |
499 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748783045 CA393479512 |
500 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563208732 CA7668057 |
500 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7668056 rs748783045 |
500 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668055 rs372830341 |
501 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA272915169 rs747400123 |
501 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs747400123 CA393479490 |
501 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747441557 CA7668053 |
502 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747441557 CA7668054 |
502 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747441557 CA393479459 |
502 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393479388 rs1469707293 |
504 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454206583 CA393479241 |
508 | E>G | No |
ClinGen TOPMed |
|
|
CA393479172 rs758775634 |
511 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753290383 CA7668049 |
511 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758775634 CA7668050 |
511 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393479081 rs1240176520 |
514 | H>L | No |
ClinGen gnomAD |
|
|
rs116225300 CA7668047 |
517 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1595943983 CA393478849 |
522 | T>A | No |
ClinGen Ensembl |
|
|
CA7668030 rs748504854 |
527 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA393478385 rs1353701489 |
529 | D>G | No |
ClinGen gnomAD |
|
|
CA393478319 rs1475979959 |
531 | C>F | No |
ClinGen gnomAD |
|
|
rs755506201 CA7668029 |
533 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7668028 rs755506201 |
533 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1331042963 CA393478164 |
535 | L>P | No |
ClinGen TOPMed |
|
|
rs780198245 CA7668025 |
540 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668022 rs767676254 |
541 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 543 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308356455 CA393477860 |
544 | F>L | No |
ClinGen TOPMed |
|
|
rs1194006527 CA393477832 |
545 | Q>H | No |
ClinGen gnomAD |
|
|
CA272914607 rs963719922 |
546 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 548 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393477716 rs1264582051 |
549 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7668020 rs367823360 |
549 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393477460 rs1251181454 |
557 | S>G | No |
ClinGen gnomAD |
|
|
CA7668018 rs762931038 |
557 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030951288 CA272914583 |
560 | T>N | No |
ClinGen Ensembl |
|
|
CA272914581 rs1025470079 |
561 | P>L | No |
ClinGen TOPMed |
|
|
CA393477305 rs1259088932 |
562 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7668015 rs759071179 |
564 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1266673527 CA393477136 |
567 | C>Y | No |
ClinGen TOPMed |
|
|
CA393477097 rs776474331 |
568 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1396618018 CA393477087 |
569 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1396618018 CA393477089 |
569 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770680191 CA7668013 |
569 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668009 rs779323296 |
575 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393476909 rs779323296 |
575 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7668008 rs768845597 |
577 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1171085127 CA393476835 |
577 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA272914520 rs752153208 |
577 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7668007 rs749809514 |
580 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1402526433 CA393476723 |
581 | V>I | No |
ClinGen TOPMed |
|
|
rs1402526433 CA393476721 |
581 | V>L | No |
ClinGen TOPMed |
|
|
CA393476684 rs1415138873 |
583 | S>P | No |
ClinGen gnomAD |
|
|
rs1012051899 CA272914506 |
588 | L>M | No |
ClinGen Ensembl |
|
|
CA393476558 rs1356314926 |
588 | L>P | No |
ClinGen gnomAD |
|
|
rs1249194516 CA393476527 |
589 | A>T | No |
ClinGen gnomAD |
|
|
CA393476490 rs1481891165 |
590 | V>M | No |
ClinGen gnomAD |
|
|
CA7668002 rs757462800 |
591 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1345626725 CA393476447 |
591 | E>D | No |
ClinGen TOPMed |
|
|
CA7668003 rs757462800 |
591 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213408029 CA393476419 |
592 | S>R | No |
ClinGen gnomAD |
No associated diseases with P43378
6 regional properties for P43378
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tyrosine-specific protein phosphatase, PTPase domain | 302 - 576 | IPR000242 |
| domain | Tyrosine-specific protein phosphatases domain | 481 - 565 | IPR000387 |
| domain | CRAL-TRIO lipid binding domain | 84 - 243 | IPR001251 |
| domain | Protein-tyrosine phosphatase, catalytic | 459 - 573 | IPR003595 |
| domain | CRAL/TRIO, N-terminal domain | 43 - 68 | IPR011074 |
| active_site | Protein-tyrosine phosphatase, active site | 513 - 523 | IPR016130 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| neuron projection terminus | The specialized, terminal region of a neuron projection such as an axon or a dendrite. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| non-membrane spanning protein tyrosine phosphatase activity | Catalysis of the reaction: non-membrane spanning protein tyrosine phosphate + H2O = non-membrane spanning protein tyrosine + phosphate. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| peptidyl-tyrosine dephosphorylation | The removal of phosphoric residues from peptidyl-O-phospho-tyrosine to form peptidyl-tyrosine. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P08575 | PTPRC | Receptor-type tyrosine-protein phosphatase C | Homo sapiens (Human) | PR |
| P28827 | PTPRM | Receptor-type tyrosine-protein phosphatase mu | Homo sapiens (Human) | PR |
| Q15262 | PTPRK | Receptor-type tyrosine-protein phosphatase kappa | Homo sapiens (Human) | PR |
| P10586 | PTPRF | Receptor-type tyrosine-protein phosphatase F | Homo sapiens (Human) | PR |
| P23468 | PTPRD | Receptor-type tyrosine-protein phosphatase delta | Homo sapiens (Human) | PR |
| Q13332 | PTPRS | Receptor-type tyrosine-protein phosphatase S | Homo sapiens (Human) | PR |
| Q641Z2 | Ptpn9 | Tyrosine-protein phosphatase non-receptor type 9 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPATAPRPD | MAPELTPEEE | QATKQFLEEI | NKWTVQYNVS | PLSWNVAVKF | LMARKFDVLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AIELFHSYRE | TRRKEGIVKL | KPHEEPLRSE | ILSGKFTILN | VRDPTGASIA | LFTARLHHPH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSVQHVVLQA | LFYLLDRAVD | SFETQRNGLV | FIYDMCGSNY | ANFELDLGKK | VLNLLKGAFP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARLKKVLIVG | APIWFRVPYS | IISLLLKDKV | RERIQILKTS | EVTQHLPREC | LPENLGGYVK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IDLATWNFQF | LPQVNGHPDP | FDEIILFSLP | PALDWDSVHV | PGPHAMTIQE | LVDYVNARQK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QGIYEEYEDI | RRENPVGTFH | CSMSPGNLEK | NRYGDVPCLD | QTRVKLTKRS | GHTQTDYINA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SFMDGYKQKN | AYIGTQGPLE | NTYRDFWLMV | WEQKVLVIVM | TTRFEEGGRR | KCGQYWPLEK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DSRIRFGFLT | VTNLGVENMN | HYKKTTLEIH | NTEERQKRQV | THFQFLSWPD | YGVPSSAASL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IDFLRVVRNQ | QSLAVSNMGA | RSKGQCPEPP | IVVHCSAGIG | RTGTFCSLDI | CLAQLEELGT |
| 550 | 560 | 570 | 580 | 590 | |
| LNVFQTVSRM | RTQRAFSIQT | PEQYYFCYKA | ILEFAEKEGM | VSSGQNLLAV | ESQ |