Q9H939
PR
Gene name |
PSTPIP2 |
Protein name |
Proline-serine-threonine phosphatase-interacting protein 2 |
Names |
PEST phosphatase-interacting protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9050 |
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 Q9H939
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H939-F1 | Predicted | AlphaFoldDB |
221 variants for Q9H939
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs113275438 CA299755295 |
6 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402360770 rs1334899091 |
6 | F>Y | No |
ClinGen TOPMed |
|
|
rs1210046821 CA402360748 |
7 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8950483 rs757294561 |
8 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA402360692 rs1347616015 |
10 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs983534121 CA299755276 |
11 | W>R | No |
ClinGen TOPMed |
|
|
CA8950458 rs753310219 |
13 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402356621 rs765919346 |
14 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289153094 CA402356626 |
14 | D>G | No |
ClinGen gnomAD |
|
|
rs910256171 CA402356611 |
15 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1290055938 CA402356608 |
15 | I>T | No |
ClinGen gnomAD |
|
|
rs910256171 CA299741221 |
15 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402356593 rs1410173890 |
16 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756597441 CA8950456 |
17 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA299741204 rs1050245513 |
20 | G>S | No |
ClinGen gnomAD |
|
|
CA402356482 rs1313303889 |
22 | D>E | No |
ClinGen TOPMed |
|
|
rs767925807 CA8950454 |
24 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1163562290 CA402356459 |
24 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402356433 rs1414789345 |
25 | I>V | No |
ClinGen gnomAD |
|
|
CA8950453 rs762190925 |
32 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299741196 rs923145565 |
32 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs923145565 CA402356299 |
32 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8950452 rs143653508 |
33 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402356266 rs1193141490 |
34 | N>Y | No |
ClinGen gnomAD |
|
|
CA8950451 rs149385022 |
36 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402356181 rs199980513 |
37 | E>D | No |
ClinGen gnomAD |
|
|
rs1324586476 CA402353839 |
46 | A>V | No |
ClinGen TOPMed |
|
|
CA8950437 rs755566663 |
48 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA299736724 rs978843225 |
49 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 50 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781698262 CA8950435 |
53 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402353745 rs1366745569 |
54 | K>Q | No |
ClinGen gnomAD |
|
|
CA402353741 rs1297866352 |
54 | K>R | No |
ClinGen TOPMed |
|
|
rs1214320703 CA402353717 |
58 | N>D | No |
ClinGen TOPMed |
|
|
rs1421223669 CA402353709 |
59 | L>V | No |
ClinGen gnomAD |
|
|
rs763265781 CA8950431 |
60 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763265781 CA8950430 |
60 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1600295 CA8950429 rs752901804 |
64 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759638234 CA299736711 |
69 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8950427 rs759638234 |
69 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs903390114 CA299736706 |
70 | I>L | No |
ClinGen TOPMed |
|
|
CA402353633 rs776605879 |
70 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766423295 CA8950404 |
75 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8950405 rs150435685 |
75 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1250769951 CA402356010 |
76 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs907160574 CA299752416 |
77 | L>F | No |
ClinGen Ensembl |
|
|
rs761802945 CA8950403 |
78 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326712504 CA402355952 |
79 | V>A | No |
ClinGen TOPMed |
|
|
CA402355911 rs1234459566 |
82 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8950401 rs768605495 |
83 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763991442 CA8950370 |
85 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8950369 rs140429538 |
86 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8950368 rs140429538 |
86 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8950366 rs759381077 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8950364 rs372546680 |
90 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402355432 rs1448067579 |
92 | I>L | No |
ClinGen gnomAD |
|
|
CA402355384 rs1195584809 |
96 | Q>L | No |
ClinGen TOPMed |
|
|
CA8950360 rs748719226 |
103 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1037052019 CA299749481 |
104 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1299844012 CA402355091 |
107 | E>* | No |
ClinGen gnomAD |
|
|
rs755228299 CA8950358 |
108 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs890606940 CA299749470 |
112 | Q>E | No |
ClinGen TOPMed |
|
|
rs1317430919 CA402355008 |
115 | Q>L | No |
ClinGen gnomAD |
|
|
rs550663283 COSM1589531 CA8950357 |
116 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8950356 rs551533898 COSM1711259 |
116 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756402176 CA8950355 |
117 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs750484115 CA8950354 |
117 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753552580 CA8950330 |
120 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766254600 CA8950329 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1270895809 CA402354509 |
122 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1336846399 CA402354493 |
123 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371523789 CA8950328 |
123 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8950327 rs750025542 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs999213149 CA299746881 |
126 | I>F | No |
ClinGen gnomAD |
|
|
CA402354466 rs1353276219 |
126 | I>S | No |
ClinGen gnomAD |
|
|
CA402354469 rs999213149 |
126 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402354411 rs1442398889 |
131 | S>N | No |
ClinGen gnomAD |
|
|
CA299746875 rs902153676 |
135 | K>E | No |
ClinGen gnomAD |
|
|
CA402354358 rs1326265437 |
138 | M>T | No |
ClinGen gnomAD |
|
|
rs1568213604 CA402354348 |
139 | D>E | No |
ClinGen Ensembl |
|
|
CA299746872 rs938208155 |
139 | D>G | No |
ClinGen TOPMed |
|
|
CA402354352 rs1463540987 |
139 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1235961886 CA402354324 |
141 | K>R | No |
ClinGen gnomAD |
|
|
CA8950311 rs755912026 |
144 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA402354300 rs755912026 |
144 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs761609746 CA8950309 |
146 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761609746 CA8950308 |
146 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs751022564 CA8950307 |
147 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762378003 CA8950305 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763729659 CA8950306 |
149 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs776007739 CA8950304 |
152 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402354229 rs1192396602 |
154 | A>V | No |
ClinGen TOPMed |
|
|
CA402354212 rs1281736591 |
157 | A>T | No |
ClinGen gnomAD |
|
|
rs759856340 CA8950302 |
158 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777022955 CA8950301 |
159 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs747288838 CA8950299 |
160 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371353196 CA8950300 |
160 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA299744963 rs865781574 |
162 | A>V | No |
ClinGen Ensembl |
|
|
rs772122805 CA8950297 |
163 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175762878 CA402354149 COSM1480335 |
167 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA299744957 rs916567273 |
170 | Q>E | No |
ClinGen Ensembl |
|
|
rs1421291932 CA402354060 |
178 | A>S | No |
ClinGen gnomAD |
|
|
CA402354062 rs1421291932 |
178 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA402354039 rs1189758558 |
181 | K>R | No |
ClinGen gnomAD |
|
|
CA8950279 rs199673954 |
183 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8950280 rs199673954 COSM3937751 |
183 | A>T | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772205771 CA8950278 |
184 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8950277 rs748217162 |
187 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA402353986 rs1336578965 |
188 | D>G | No |
ClinGen gnomAD |
|
|
CA8950255 rs776666191 |
190 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599700698 CA402353973 |
190 | A>T | No |
ClinGen Ensembl |
|
|
rs776666191 CA402353969 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771740312 CA8950251 |
192 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8950252 rs777480930 |
192 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA402353951 rs1395419861 |
193 | L>Q | No |
ClinGen TOPMed |
|
|
CA8950250 rs568505015 |
195 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753368097 CA8950247 |
196 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs866463150 CA299744437 COSM1494165 |
196 | G>D | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA402353934 rs753368097 |
196 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8950248 rs753368097 |
196 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8950245 rs756619114 |
197 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA402353930 rs1254286015 |
197 | T>S | No |
ClinGen gnomAD |
|
|
rs546885905 CA8950243 |
202 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546885905 CA8950242 |
202 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751774185 CA402353888 |
204 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751774185 CA8950241 |
204 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA299744415 rs867430518 |
205 | W>* | No |
ClinGen Ensembl |
|
|
rs764434073 CA8950240 |
206 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402353857 rs1238196557 |
207 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8950239 rs763090718 |
209 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA402353824 rs1441598642 |
210 | I>L | No |
ClinGen gnomAD |
|
|
rs770882059 CA8950237 |
212 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773053115 CA8950235 |
213 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402353778 rs747947520 |
214 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1396408761 CA402353770 |
214 | E>D | No |
ClinGen gnomAD |
|
|
rs747947520 CA8950233 |
214 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA299744395 rs747947520 |
214 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402353564 rs1202973832 |
222 | E>Q | No |
ClinGen TOPMed |
|
|
CA402353555 rs1357059022 |
223 | R>* | No |
ClinGen gnomAD |
|
|
CA299743080 rs866288907 |
223 | R>Q | No |
ClinGen Ensembl |
|
|
rs1446773403 CA402353533 |
226 | F>C | No |
ClinGen gnomAD |
|
|
rs199558807 CA8950194 |
226 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402353530 rs1568209458 |
227 | F>L | No |
ClinGen Ensembl |
|
|
rs774118480 CA8950192 |
228 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774118480 CA8950191 |
228 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8950193 rs199603538 |
228 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs763942352 CA8950190 |
229 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418975838 CA402353444 |
239 | S>L | No |
ClinGen gnomAD |
|
|
CA402353400 rs1177240874 |
245 | S>R | No |
ClinGen TOPMed |
|
|
rs1272046084 CA402353392 |
246 | D>E | No |
ClinGen gnomAD |
|
|
rs1471918997 CA402353394 |
246 | D>V | No |
ClinGen gnomAD |
|
|
CA402353385 rs745343084 |
247 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867222458 CA299742531 |
248 | M>I | No |
ClinGen Ensembl |
|
|
rs577894341 CA8950171 |
248 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402353356 rs1319638480 COSM1388778 |
250 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8950168 rs764778090 |
251 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1306425276 CA402353334 |
253 | R>* | No |
ClinGen gnomAD |
|
|
rs537771128 CA299742522 |
253 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs868368205 CA299742507 |
255 | S>I | No |
ClinGen Ensembl |
|
|
CA402353300 rs1443803080 |
258 | M>V | No |
ClinGen gnomAD |
|
|
rs776002307 CA8950166 |
260 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402353276 rs1293365727 |
261 | I>V | No |
ClinGen gnomAD |
|
|
rs770502198 CA8950165 |
264 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8950164 rs760272448 |
265 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8950163 rs188026409 |
267 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1378590540 CA402353221 |
268 | F>L | No |
ClinGen gnomAD |
|
|
rs772732819 CA8950162 |
268 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2877658 rs371604789 CA8950161 |
272 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760686151 CA8950160 |
272 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760686151 CA402353196 |
272 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487399739 CA402353192 |
273 | K>Q | No |
ClinGen gnomAD |
|
|
rs1236145322 CA402353185 |
274 | T>A | No |
ClinGen TOPMed |
|
|
CA8950158 rs749589861 |
278 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA402353158 rs749589861 |
278 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1216121525 CA402353150 |
279 | P>L | No |
ClinGen gnomAD |
|
|
rs941034597 CA299742481 |
279 | P>S | No |
ClinGen Ensembl |
|
|
rs1212531956 CA402353124 |
281 | P>R | No |
ClinGen gnomAD |
|
|
CA402353110 rs762440251 |
283 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs774572924 CA299742432 |
283 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774572924 CA8950143 |
283 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8950144 rs762440251 |
283 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA402353100 rs1342882547 |
284 | Y>C | No |
ClinGen TOPMed |
|
|
CA402353085 rs1208695245 |
286 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA402353046 rs1310902248 |
290 | S>F | No |
ClinGen gnomAD |
|
|
rs1296817199 CA402353033 |
292 | K>Q | No |
ClinGen gnomAD |
|
|
CA402352943 COSM1303744 rs1338813900 |
302 | G>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs987070457 CA299742419 |
305 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8950138 rs374186995 |
306 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8950122 rs769993373 |
309 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8950121 rs746159336 |
310 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776845317 CA8950120 |
311 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402352848 rs1456799447 |
312 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1456799447 CA402352849 |
312 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8950118 rs747077699 |
313 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210791596 CA402352825 |
315 | K>E | No |
ClinGen gnomAD |
|
|
CA402352814 rs371719701 |
316 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA299742072 rs371719701 |
316 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA402352813 rs371719701 |
316 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1167702304 CA402352801 |
318 | P>A | No |
ClinGen TOPMed |
|
|
CA402352769 rs1360749337 |
320 | D>V | No |
ClinGen gnomAD |
|
|
CA8950095 rs769653768 |
320 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745678957 CA8950094 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8950093 rs2276199 VAR_059708 |
322 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs148781217 CA8950091 |
322 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_059709 CA8950092 rs16978507 |
322 | N>S | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
CA402352756 rs2276199 |
322 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402352738 rs1477972359 |
324 | S>C | No |
ClinGen gnomAD |
|
|
rs1376357955 CA402352729 |
325 | L>S | No |
ClinGen gnomAD |
|
|
CA402352721 rs1195767871 |
326 | V>A | No |
ClinGen gnomAD |
|
|
rs747712049 CA8950090 |
327 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1262749633 CA402352701 |
328 | D>E | No |
ClinGen gnomAD |
|
|
rs1214679015 CA402352695 |
329 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs902400915 CA299741400 |
333 | Y>C | No |
ClinGen TOPMed |
|
|
rs765759568 CA8950087 |
333 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8950086 rs371122665 |
334 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA402352646 rs1344213806 |
335 | Q>L | No |
ClinGen gnomAD |
No associated diseases with Q9H939
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05080 | HOF1 | Cytokinesis protein 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A7MBI0 | PACSIN1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Bos taurus (Bovine) | SS |
| Q9BQI5 | SGIP1 | SH3-containing GRB2-like protein 3-interacting protein 1 | Homo sapiens (Human) | PR |
| Q9UKS6 | PACSIN3 | Protein kinase C and casein kinase substrate in neurons protein 3 | Homo sapiens (Human) | SS |
| Q9BY11 | PACSIN1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Homo sapiens (Human) | EV |
| Q9UNF0 | PACSIN2 | Protein kinase C and casein kinase substrate in neurons protein 2 | Homo sapiens (Human) | EV |
| O60861 | GAS7 | Growth arrest-specific protein 7 | Homo sapiens (Human) | PR |
| P97814 | Pstpip1 | Proline-serine-threonine phosphatase-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q8VD37 | Sgip1 | SH3-containing GRB2-like protein 3-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q60780 | Gas7 | Growth arrest-specific protein 7 | Mus musculus (Mouse) | PR |
| Q99M15 | Pstpip2 | Proline-serine-threonine phosphatase-interacting protein 2 | Mus musculus (Mouse) | PR |
| Q9WVE8 | Pacsin2 | Protein kinase C and casein kinase substrate in neurons protein 2 | Mus musculus (Mouse) | EV |
| Q99JB8 | Pacsin3 | Protein kinase C and casein kinase II substrate protein 3 | Mus musculus (Mouse) | SS |
| Q61644 | Pacsin1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Mus musculus (Mouse) | EV |
| Q4V920 | pacsin1b | Protein kinase C and casein kinase substrate in neurons protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTRSLFKGNF | WSADILSTIG | YDNIIQHLNN | GRKNCKEFED | FLKERAAIEE | RYGKDLLNLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKKPCGQSEI | NTLKRALEVF | KQQVDNVAQC | HIQLAQSLRE | EARKMEEFRE | KQKLQRKKTE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LIMDAIHKQK | SLQFKKTMDA | KKNYEQKCRD | KDEAEQAVSR | SANLVNPKQQ | EKLFVKLATS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTAVEDSDKA | YMLHIGTLDK | VREEWQSEHI | KACEAFEAQE | CERINFFRNA | LWLHVNQLSQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QCVTSDEMYE | QVRKSLEMCS | IQRDIEYFVN | QRKTGQIPPA | PIMYENFYSS | QKNAVPAGKA |
| 310 | 320 | 330 | |||
| TGPNLARRGP | LPIPKSSPDD | PNYSLVDDYS | LLYQ |