P50395
PR
Gene name |
GDI2 (RABGDIB) |
Protein name |
Rab GDP dissociation inhibitor beta |
Names |
Rab GDI beta, Guanosine diphosphate dissociation inhibitor 2, GDI-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2665 |
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 P50395
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P50395-F1 | Predicted | AlphaFoldDB |
273 variants for P50395
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1260751824 CA375901422 |
4 | E>D | No |
ClinGen TOPMed |
|
|
rs543226756 CA5395468 |
4 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5395465 rs762509646 |
6 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs763560240 CA5395466 |
6 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 6 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5395464 rs376740115 |
8 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5395462 rs759415310 |
15 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1016814314 CA202285933 |
16 | E>V | No |
ClinGen TOPMed |
|
|
CA375921327 rs1172602595 |
17 | C>Y | No |
ClinGen gnomAD |
|
|
CA202285929 rs966219982 |
22 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5395427 rs780596758 |
23 | M>K | No |
ClinGen ExAC |
|
|
CA5395426 rs11557445 |
27 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395424 rs777303485 |
28 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5395423 rs758016791 |
29 | K>N | No |
ClinGen ExAC |
|
|
CA5395422 rs752282460 |
30 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1202362843 CA375921237 |
31 | L>R | No |
ClinGen gnomAD |
|
|
rs764877548 CA5395421 |
33 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395420 rs148812584 |
35 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375921198 rs1564398174 |
37 | P>S | No |
ClinGen Ensembl |
|
|
rs767665480 CA5395415 |
43 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs142565898 CA5395414 |
44 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375921135 rs1360206840 |
46 | I>M | No |
ClinGen gnomAD |
|
|
CA5395413 rs200426511 |
46 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768783267 CA5395412 |
47 | T>I | No |
ClinGen ExAC |
|
|
rs775865227 CA5395410 |
51 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232013589 CA375921083 |
52 | L>F | No |
ClinGen gnomAD |
|
|
rs1342883333 CA375921073 |
54 | K>E | No |
ClinGen gnomAD |
|
|
CA202283703 rs1019275062 |
57 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375921033 rs1400051006 |
59 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375921035 rs1400051006 |
59 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768378594 CA5395383 |
59 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs748784089 CA5395382 |
60 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375921014 rs1430603676 |
63 | P>A | No |
ClinGen gnomAD |
|
|
rs755557916 CA5395380 |
64 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350264115 CA375920989 |
66 | M>I | No |
ClinGen gnomAD |
|
|
COSM3769141 CA375920995 rs1161274879 |
66 | M>V | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5395378 rs781104500 |
70 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5395376 CA5395377 rs751297603 |
71 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752826771 CA5395373 |
80 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1028430226 CA202283652 |
84 | N>S | No |
ClinGen TOPMed |
|
|
CA375920836 rs1209851717 |
86 | Q>H | No |
ClinGen TOPMed |
|
|
rs200939621 CA5395356 |
90 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757136543 CA5395357 |
90 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375920801 rs1302082156 |
92 | L>F | No |
ClinGen gnomAD |
|
|
rs777580570 CA5395355 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758102346 CA5395354 |
95 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5395352 rs765371059 |
99 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5395350 rs753922992 |
111 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202121128 CA5395349 |
113 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1045254840 CA202282519 |
113 | G>R | No |
ClinGen Ensembl |
|
|
CA375920655 rs202121128 |
113 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA202282513 rs868111616 |
115 | K>E | No |
ClinGen Ensembl |
|
|
rs761309123 CA5395348 |
116 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA375920631 rs1201007910 |
117 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1441692245 CA375920618 |
119 | V>L | No |
ClinGen gnomAD |
|
|
CA5395346 rs768053339 |
122 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762081303 CA5395345 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375920565 rs1419856871 |
127 | L>R | No |
ClinGen TOPMed |
|
|
CA5395343 rs769270716 |
129 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs770482276 CA5395321 |
132 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1233659497 CA375920505 |
135 | F>L | No |
ClinGen gnomAD |
|
|
rs1478556769 CA375920493 |
136 | E>V | No |
ClinGen Ensembl |
|
|
CA375920480 rs1354631339 |
138 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1271271901 CA375920479 |
138 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372911228 CA5395320 |
139 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376781352 CA5395319 |
139 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel CA375920448 rs1341150715 |
143 | F>L | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA5395318 rs562861312 |
144 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1393500613 CA375920433 |
145 | V>A | No |
ClinGen gnomAD |
|
|
CA375920427 rs1306956229 |
146 | Y>C | No |
ClinGen TOPMed |
|
|
CA375920426 rs1306956229 |
146 | Y>F | No |
ClinGen TOPMed |
|
|
rs573927164 CA5395315 |
149 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375920398 rs140194178 |
150 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202277355 rs866985835 |
151 | D>G | No |
ClinGen gnomAD |
|
|
CA202277358 rs151315864 |
151 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151315864 CA5395313 |
151 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756268782 CA5395312 |
152 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375920383 rs1191836063 |
153 | K>E | No |
ClinGen gnomAD |
|
|
CA375920379 rs1403706378 |
153 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781732850 CA5395310 |
154 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750474960 CA375920375 |
154 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750474960 CA5395311 |
154 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375920370 rs1344301823 |
155 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs202191827 CA5395309 |
156 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271055372 CA375920346 |
158 | F>L | No |
ClinGen gnomAD |
|
|
CA202277336 rs372503635 |
158 | F>S | No |
ClinGen ESP |
|
|
CA5395308 rs752074817 |
160 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5395307 rs764410675 |
161 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269891905 CA375920331 |
161 | I>V | No |
ClinGen gnomAD |
|
|
rs763287706 CA5395306 |
163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs369540308 CA202277326 |
164 | K>E | No |
ClinGen ESP |
|
| TCGA novel | 165 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA202277324 rs201031883 |
166 | T>A | No |
ClinGen 1000Genomes |
|
|
CA202277322 rs11557447 |
166 | T>N | No |
ClinGen gnomAD |
|
|
rs201917946 CA202277318 |
167 | T>A | No |
ClinGen 1000Genomes |
|
|
rs765946289 CA5395304 |
168 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5395303 rs530025524 |
169 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77029930 CA5395302 |
173 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1414834265 CA375920248 |
174 | K>Q | No |
ClinGen gnomAD |
|
|
CA5395300 rs761709460 |
177 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5395299 rs774331835 |
178 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395296 rs770089565 |
180 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748807997 CA202277263 |
181 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5395294 rs750753689 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1269478306 CA375920184 |
183 | D>G | No |
ClinGen TOPMed |
|
|
CA375920135 rs1272522143 |
190 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375920134 rs1272522143 |
190 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5395291 rs752060178 |
191 | L>V | No |
ClinGen ExAC |
|
|
rs983927598 CA202277241 |
192 | Y>H | No |
ClinGen TOPMed |
|
|
CA375920108 rs1290080550 |
195 | D>N | No |
ClinGen TOPMed |
|
|
CA375920051 rs1444346776 |
200 | Q>H | No |
ClinGen gnomAD |
|
|
CA5395279 rs775383329 |
201 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375920040 rs1345876246 |
202 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375920032 rs1312054264 |
203 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA375920031 rs1312054264 |
203 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5395276 rs200329717 |
206 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs770979438 CA5395275 |
207 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs965162866 CA202276699 |
207 | N>K | No |
ClinGen Ensembl |
|
|
rs1376885667 CA375920006 |
207 | N>S | No |
ClinGen gnomAD |
|
|
rs747040286 CA5395274 |
209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs894369983 CA202276684 |
212 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531926886 CA202276649 |
217 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs531926886 CA5395271 |
217 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5395270 rs531926886 |
217 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323493012 CA375919889 |
224 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1588975543 CA375919884 |
225 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 227 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473688058 CA375919869 |
227 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755326206 CA375919856 |
229 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755326206 CA5395268 |
229 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288272219 CA375919819 |
235 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 237 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375919807 rs1209436921 |
237 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367780908 CA5395266 |
239 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5395241 rs752744422 |
242 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139588848 CA5395239 |
244 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5395238 rs139903550 |
245 | Y>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA5395237 rs766059425 |
249 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5395236 rs761007931 |
254 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898906261 CA202264380 |
254 | P>S | No |
ClinGen Ensembl |
|
|
CA5395234 rs761818808 |
255 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs761818808 CA5395233 |
255 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5395235 rs773410031 |
255 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212194068 CA375919215 |
256 | E>D | No |
ClinGen gnomAD |
|
|
rs1588968275 CA375919205 |
257 | E>G | No |
ClinGen Ensembl |
|
|
CA5395232 rs368138033 |
258 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1016039023 CA202264355 |
258 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 259 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227744381 CA375919165 |
261 | Q>* | No |
ClinGen gnomAD |
|
|
CA202264348 rs1005120715 |
262 | N>D | No |
ClinGen gnomAD |
|
|
CA202264334 rs886241148 |
262 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5395231 rs769161634 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5395230 rs749648480 |
267 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1325200627 CA375919096 |
268 | V>I | No |
ClinGen gnomAD |
|
|
rs780505114 CA5395229 |
269 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1398405386 CA375919040 |
273 | E>Q | No |
ClinGen gnomAD |
|
|
CA5395200 rs146005160 |
276 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753880928 CA5395199 |
276 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375917958 rs753880928 |
276 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375917955 rs1426196359 |
277 | C>S | No |
ClinGen TOPMed |
|
|
CA375917940 rs1164690568 |
278 | K>E | No |
ClinGen TOPMed |
|
|
rs1293554962 CA375917900 |
281 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767760359 CA5395195 |
287 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375917825 rs1406122912 |
288 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751756095 CA5395193 |
290 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs533312902 CA5395194 |
290 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs142508080 CA5395191 |
295 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295308033 CA375917733 |
296 | Q>* | No |
ClinGen gnomAD |
|
|
rs776064987 CA5395190 |
296 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765605235 CA5395189 |
300 | V>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000880990 rs138091745 CA5395188 |
303 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA375917680 rs1265885616 |
304 | L>F | No |
ClinGen TOPMed |
|
|
rs1444395558 CA375917659 |
307 | P>A | No |
ClinGen gnomAD |
|
|
CA375917653 rs1249102287 |
308 | I>V | No |
ClinGen gnomAD |
|
|
CA375917643 rs1158541394 |
309 | K>R | No |
ClinGen gnomAD |
|
|
rs1452032255 CA375917636 |
310 | N>T | No |
ClinGen gnomAD |
|
|
CA202260150 rs150373325 |
311 | T>S | No |
ClinGen ESP |
|
|
rs151228905 CA5395185 |
312 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA202260145 rs373728981 |
315 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs773872663 CA5395184 |
318 | Q>H | No |
ClinGen ExAC |
|
|
rs141174887 CA202260144 |
323 | Q>* | No |
ClinGen ESP |
|
|
rs1426033622 CA375917545 |
323 | Q>H | No |
ClinGen TOPMed |
|
|
rs1485203185 CA375917534 |
325 | Q>E | No |
ClinGen gnomAD |
|
|
CA5395183 rs369582201 |
325 | Q>L | No |
ClinGen ESP ExAC |
|
|
CA375917522 rs1256451873 |
327 | N>H | No |
ClinGen gnomAD |
|
|
CA5395182 rs377006799 |
327 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1448273811 CA375917511 |
328 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375917513 rs1448273811 |
328 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1262304833 CA375917501 |
330 | S>P | No |
ClinGen gnomAD |
|
|
CA375917479 rs1467901407 |
331 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769275618 CA5395161 |
334 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769275618 CA375917460 |
334 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395160 rs745861202 |
340 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027231113 CA202258962 |
342 | N>D | No |
ClinGen TOPMed |
|
|
rs1269678060 CA375917401 |
342 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375917379 rs1304869088 |
346 | Q>E | No |
ClinGen gnomAD |
|
|
rs778077425 CA5395156 |
347 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1424321511 CA375917348 |
350 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5395154 rs752931374 |
350 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA375917344 rs1411310272 |
351 | A>T | No |
ClinGen gnomAD |
|
|
CA375917339 rs1396504970 |
351 | A>V | No |
ClinGen gnomAD |
|
|
CA375917322 rs1391141347 |
354 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5395153 rs765455596 |
356 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs374026708 CA5395152 |
357 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767901615 CA202258944 |
358 | E>K | No |
ClinGen Ensembl |
|
|
CA5395150 rs766934973 |
364 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5395149 rs761124362 |
366 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244782056 CA375917229 |
368 | P>A | No |
ClinGen gnomAD |
|
|
rs1244782056 CA375917228 |
368 | P>S | No |
ClinGen gnomAD |
|
|
CA375917208 rs1438606153 |
371 | E>A | No |
ClinGen gnomAD |
|
|
rs1206808947 CA375917210 |
371 | E>Q | No |
ClinGen gnomAD |
|
|
rs1203086435 CA375917186 |
374 | E>A | No |
ClinGen gnomAD |
|
|
rs201939478 CA202258931 |
374 | E>K | No |
ClinGen gnomAD |
|
|
CA375917173 rs1196601702 |
376 | I>M | No |
ClinGen TOPMed |
|
|
CA5395147 rs767896630 |
376 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395148 rs750717677 |
376 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5395144 rs777840947 |
378 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5395146 rs762565613 |
378 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217163523 CA375917137 |
379 | K>N | No |
ClinGen gnomAD |
|
|
CA375917154 rs1191198832 |
379 | K>R | No |
ClinGen gnomAD |
|
|
rs747920234 CA5395114 |
380 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395113 rs779300230 |
381 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1588962379 CA375917115 |
382 | S>I | No |
ClinGen Ensembl |
|
|
COSM1603569 rs766972095 CA202258589 |
383 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5395112 rs768960604 |
384 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA202258567 rs201183386 |
387 | L>P | No |
ClinGen 1000Genomes |
|
|
CA375917070 rs1293583657 |
388 | V>I | No |
ClinGen gnomAD |
|
|
rs1417112297 CA375917038 |
391 | D>E | No |
ClinGen TOPMed |
|
|
rs780334414 CA5395110 |
397 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs199531623 CA5395092 |
398 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1364347572 CA375916971 |
398 | I>V | No |
ClinGen gnomAD |
|
|
CA5395090 rs745900996 |
402 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781568391 CA5395089 |
402 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202258481 rs911503900 |
403 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 411 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1010582641 CA202258465 |
413 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758746730 CA5395082 |
417 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs956483528 CA202258464 |
418 | K>E | No |
ClinGen gnomAD |
|
|
CA375916804 rs956483528 |
418 | K>Q | No |
ClinGen gnomAD |
|
|
CA5395081 rs753553466 |
420 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5395080 rs202024115 |
421 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5395079 rs202024115 |
421 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375916756 rs1267121616 |
423 | R>S | No |
ClinGen gnomAD |
|
|
CA5395078 rs749909436 |
428 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs934554905 CA202258437 |
429 | F>I | No |
ClinGen TOPMed |
|
|
CA5395077 rs766907217 |
431 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1340890429 CA375916691 |
433 | E>K | No |
ClinGen gnomAD |
|
|
rs764049904 CA5395073 |
434 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5395074 rs774421940 |
434 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762772525 CA5395072 |
435 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5395071 rs368965101 |
436 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375916668 rs368965101 |
436 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745961164 CA5395069 |
436 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5395070 rs745961164 |
436 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs768266050 | 438 | K>missing | Variant assessed as Somatic; 0.0001884 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776809362 CA5395068 |
438 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1429145172 CA375916649 |
439 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA375916650 rs1429145172 |
439 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA375916632 rs1435883679 |
441 | I>N | No |
ClinGen gnomAD |
|
|
CA5395065 rs747573408 |
442 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375916627 rs1377619541 |
442 | Y>H | No |
ClinGen gnomAD |
|
|
rs747573408 CA375916625 |
442 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778246115 CA5395064 |
443 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P50395
No regional properties for P50395
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P50395 | |||
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| Rab GDP-dissociation inhibitor activity | Prevents the dissociation of GDP from the small GTPase Rab, thereby preventing GTP from binding. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| small GTPase binding | Binding to a small monomeric GTPase. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of cilium assembly | Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. |
| negative regulation of protein localization to cilium | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 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. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39958 | GDI1 | Rab GDP-dissociation inhibitor | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P21856 | GDI1 | Rab GDP dissociation inhibitor alpha | Bos taurus (Bovine) | PR |
| P50397 | GDI2 | Rab GDP dissociation inhibitor beta | Bos taurus (Bovine) | PR |
| P60028 | GDI1 | Rab GDP dissociation inhibitor alpha | Pan troglodytes (Chimpanzee) | PR |
| O97556 | GDI2 | Rab GDP dissociation inhibitor beta | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P31150 | GDI1 | Rab GDP dissociation inhibitor alpha | Homo sapiens (Human) | PR |
| P50396 | Gdi1 | Rab GDP dissociation inhibitor alpha | Mus musculus (Mouse) | PR |
| Q61598 | Gdi2 | Rab GDP dissociation inhibitor beta | Mus musculus (Mouse) | PR |
| P50398 | Gdi1 | Rab GDP dissociation inhibitor alpha | Rattus norvegicus (Rat) | PR |
| P50399 | Gdi2 | Rab GDP dissociation inhibitor beta | Rattus norvegicus (Rat) | PR |
| Q9LXC0 | At5g09550 | Guanosine nucleotide diphosphate dissociation inhibitor At5g09550 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O24653 | GDI2 | Guanosine nucleotide diphosphate dissociation inhibitor 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q96254 | GDI1 | Guanosine nucleotide diphosphate dissociation inhibitor 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNEEYDVIVL | GTGLTECILS | GIMSVNGKKV | LHMDRNPYYG | GESASITPLE | DLYKRFKIPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPPESMGRGR | DWNVDLIPKF | LMANGQLVKM | LLYTEVTRYL | DFKVTEGSFV | YKGGKIYKVP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STEAEALASS | LMGLFEKRRF | RKFLVYVANF | DEKDPRTFEG | IDPKKTTMRD | VYKKFDLGQD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIDFTGHALA | LYRTDDYLDQ | PCYETINRIK | LYSESLARYG | KSPYLYPLYG | LGELPQGFAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSAIYGGTYM | LNKPIEEIIV | QNGKVIGVKS | EGEIARCKQL | ICDPSYVKDR | VEKVGQVIRV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ICILSHPIKN | TNDANSCQII | IPQNQVNRKS | DIYVCMISFA | HNVAAQGKYI | AIVSTTVETK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EPEKEIRPAL | ELLEPIEQKF | VSISDLLVPK | DLGTESQIFI | SRTYDATTHF | ETTCDDIKNI |
| 430 | 440 | ||||
| YKRMTGSEFD | FEEMKRKKND | IYGED |