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 Q9NZI8

Entry ID Method Resolution Chain Position Source
3KRM X-ray 275 A A/B/C 404-566 PDB
6QEY X-ray 220 A A 194-369 PDB
AF-Q9NZI8-F1 Predicted AlphaFoldDB

308 variants for Q9NZI8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA400127809
rs1344084453
2 N>S No ClinGen
TOPMed
TCGA novel 4 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421934086
CA400127828
5 Y>H No ClinGen
gnomAD
rs1360261891
CA400127843
7 G>R No ClinGen
gnomAD
CA400127846
rs1267859451
7 G>V No ClinGen
gnomAD
rs779595957
CA8636051
8 N>K No ClinGen
ExAC
gnomAD
rs143509742
CA8636052
10 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8636053
rs768155406
10 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1230364951
CA400127874
11 E>D No ClinGen
gnomAD
CA400127877
rs1368653096
12 S>G No ClinGen
TOPMed
rs776186264
CA8636054
12 S>T No ClinGen
ExAC
gnomAD
CA400127901
rs1408130892
16 A>T No ClinGen
TOPMed
rs1598115757
CA400127931
20 K>E No ClinGen
Ensembl
rs1309201133
CA400127952
23 A>T No ClinGen
TOPMed
CA8636057
rs772846567
23 A>V No ClinGen
ExAC
gnomAD
CA400127957
rs1432093569
24 E>K No ClinGen
TOPMed
CA400127966
rs1485406225
25 H>Y No ClinGen
gnomAD
CA8636059
rs201168699
26 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8636058
rs201168699
26 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774351967
CA8636060
26 K>R No ClinGen
ExAC
gnomAD
CA400127985
rs1225106503
28 S>T No ClinGen
gnomAD
CA400127995
rs746334059
29 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8636063
rs746334059
29 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA8636065
rs764407782
34 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA8636066
rs754101030
35 V>L No ClinGen
ExAC
gnomAD
CA400128050
rs1205790831
37 S>F No ClinGen
TOPMed
TCGA novel 38 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 40 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 41 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8636068
rs779218009
43 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA8636070
rs758957391
45 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 48 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747691671
CA8636072
52 K>N No ClinGen
ExAC
gnomAD
CA8636071
rs200362453
52 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs746176970
CA400128173
54 I>M No ClinGen
gnomAD
CA400128187
rs1245156730
56 T>I No ClinGen
gnomAD
CA291388405
rs987277426
57 F>L No ClinGen
TOPMed
gnomAD
rs1598117229
CA400128600
60 K>E No ClinGen
Ensembl
rs778819788
CA8636101
63 L>V No ClinGen
ExAC
gnomAD
rs745689026
CA8636102
64 Q>K No ClinGen
ExAC
gnomAD
rs772084376
CA8636103
64 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA400128716
rs1448087640
66 K>R No ClinGen
TOPMed
gnomAD
rs760602261
CA8636105
68 L>I No ClinGen
ExAC
gnomAD
rs893542438
CA291390304
69 E>G No ClinGen
TOPMed
CA400128788
rs1186859822
70 I>F No ClinGen
gnomAD
CA400128835
rs1364192239
71 E>A No ClinGen
TOPMed
TCGA novel 74 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 79 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1223519286
CA400130828
80 S>C No ClinGen
gnomAD
CA400130843
rs1291250091
81 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs987788624
CA291412898
89 P>L No ClinGen
Ensembl
rs771183397
CA8636165
92 L>V No ClinGen
ExAC
gnomAD
rs759839830
CA400130982
93 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs759839830
CA291412937
93 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8636167
rs759839830
93 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1239541424
CA400130985
94 W>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs998753269
CA291413696
96 V>A No ClinGen
Ensembl
rs762570324
CA8636194
99 S>R No ClinGen
ExAC
gnomAD
rs1195726880
CA400131152
104 Y>H No ClinGen
gnomAD
TCGA novel 109 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400131392
rs1317534592
114 N>H No ClinGen
TOPMed
CA400131399
rs1233137027
114 N>K No ClinGen
TOPMed
gnomAD
CA400131411
rs1424280858
116 E>A No ClinGen
TOPMed
rs1161967930
CA400131406
116 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8636221
rs757274629
119 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1193251518
CA400131447
122 V>L No ClinGen
gnomAD
rs780442593
CA8636225
124 V>I No ClinGen
ExAC
gnomAD
rs755394340
CA8636227
127 S>A No ClinGen
ExAC
gnomAD
CA291419328
rs1021151923
128 N>K No ClinGen
TOPMed
gnomAD
rs138731585
CA8636228
128 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1257525409
CA400131493
129 R>Q No ClinGen
TOPMed
gnomAD
rs1449151062
CA400131492
129 R>W No ClinGen
TOPMed
rs904086158
CA291419331
130 E>D No ClinGen
TOPMed
gnomAD
COSM170350
rs1567824517
CA400131623
145 E>D large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA400131630
rs1567824526
146 N>K No ClinGen
Ensembl
CA400131628
rs1278971036
146 N>S No ClinGen
gnomAD
rs768336961
CA8636257
147 H>Y No ClinGen
ExAC
gnomAD
rs1250904450
CA400131654
150 K>R No ClinGen
gnomAD
CA400131706
rs1485652843
157 E>D No ClinGen
TOPMed
gnomAD
CA8636262
rs762860271
158 Q>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766547480
CA8636263
159 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1429710029
CA400131715
159 I>V No ClinGen
gnomAD
rs751732919
CA8636264
160 A>V No ClinGen
ExAC
gnomAD
CA400131729
rs1435140716
161 Q>R No ClinGen
gnomAD
rs1373372719
CA400131743
163 P>H No ClinGen
gnomAD
CA400131745
rs1414154484
164 E>K No ClinGen
gnomAD
rs1225414237
CA400131760
165 N>K No ClinGen
TOPMed
CA8636266
rs767875851
166 G>E No ClinGen
ExAC
gnomAD
CA400131768
rs1364176184
COSM2154294
167 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8636267
COSM1254649
rs557111796
167 R>H Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756506419
CA8636268
168 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1024617698
COSM1285485
CA291423797
168 R>Q Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA400131777
rs1236728494
169 G>E No ClinGen
gnomAD
CA400131782
rs1344356358
170 G>D No ClinGen
TOPMed
rs754354262
CA8636270
170 G>S No ClinGen
ExAC
gnomAD
CA400131800
rs1347881834
173 S>A No ClinGen
gnomAD
rs554770601
CA8636271
173 S>F No ClinGen
ExAC
gnomAD
CA400131804
rs779507141
174 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1563786
rs746549698
CA8636273
174 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8636272
COSM3402976
rs779507141
174 R>W Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 175 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8636274
rs576996590
175 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs999692017
CA291423829
175 G>V No ClinGen
TOPMed
CA8636275
rs368043361
178 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1454481322
CA400131827
178 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 182 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8636277
rs769621595
182 P>T No ClinGen
ExAC
gnomAD
rs546002680
CA8636278
184 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs373305132
CA8636279
185 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373305132
CA8636280
185 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1346843176
CA400131881
187 A>G No ClinGen
gnomAD
CA400131884
rs1428759513
188 P>S No ClinGen
gnomAD
TCGA novel 196 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752960224
CA8636284
COSM980702
199 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1311744230
CA400131959
199 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA400132008
rs1286998809
207 V>M No ClinGen
gnomAD
rs764495682
CA400132039
211 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1355919908
CA400132057
214 E>G No ClinGen
gnomAD
CA291423911
rs987445536
214 E>Q No ClinGen
TOPMed
rs1254463789
CA400132067
COSM1521807
216 A>T lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs754194926
CA8636287
219 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1259690630
CA400132090
COSM1384042
219 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8636288
rs757720909
220 N>D No ClinGen
ExAC
gnomAD
CA400132097
rs1598153974
220 N>K No ClinGen
Ensembl
CA400132104
rs542203174
221 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8636291
rs754486391
224 Q>E No ClinGen
ExAC
gnomAD
rs780628959
CA8636292
224 Q>L No ClinGen
ExAC
gnomAD
rs1398927329
CA400132134
226 Q>P No ClinGen
gnomAD
CA291423959
rs761394589
228 K>R No ClinGen
gnomAD
TCGA novel 230 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423628890
CA400132212
235 E>G No ClinGen
gnomAD
CA8636305
rs760920753
236 N>S No ClinGen
ExAC
gnomAD
CA8636308
rs762174997
237 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA400132225
rs762174997
237 A>G No ClinGen
ExAC
TOPMed
gnomAD
COSM177227
rs375360274
CA8636307
237 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400132233
rs1314044357
239 A>T No ClinGen
gnomAD
CA8636310
rs750922996
240 A>G No ClinGen
ExAC
gnomAD
rs1290955703
CA400132294
247 H>Q No ClinGen
gnomAD
CA400132306
rs1355016643
249 T>I No ClinGen
gnomAD
rs758955317
CA400132308
250 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA291424951
rs372725899
250 P>H No ClinGen
TOPMed
CA400132309
rs372725899
250 P>L No ClinGen
TOPMed
rs758955317
CA8636311
250 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1435878193
CA400132317
251 E>D No ClinGen
gnomAD
CA400132328
rs1567825477
253 C>Y No ClinGen
Ensembl
rs752184655
CA8636313
255 S>F No ClinGen
ExAC
TOPMed
gnomAD
COSM980707
rs777305494
CA8636315
256 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA400132358
rs1417327264
258 K>E No ClinGen
gnomAD
CA8636316
CA291424973
rs749024088
259 M>I No ClinGen
ExAC
TOPMed
rs1422446418
CA400132374
260 I>F No ClinGen
TOPMed
CA8636318
rs757116350
CA8636317
264 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1475745177
CA400132402
264 M>V No ClinGen
gnomAD
CA8636319
rs61751193
RCV000893715
265 H>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs771942123
CA8636320
268 A>S No ClinGen
ExAC
gnomAD
TCGA novel 272 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747081335
CA8636322
273 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758305338
CA8636338
274 A>S No ClinGen
ExAC
gnomAD
CA400132489
rs1567826065
274 A>V No ClinGen
Ensembl
CA400132497
rs377717972
275 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM980708
CA8636340
rs747039976
276 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 277 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291425597
rs374870420
281 I>M No ClinGen
Ensembl
rs531902165
CA8636343
283 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1351795505
CA400132548
284 H>N No ClinGen
TOPMed
CA8636345
rs148311931
287 F>S No ClinGen
1000Genomes
ExAC
gnomAD
CA400132581
rs1255053882
288 V>A No ClinGen
gnomAD
CA400132584
rs1443058441
289 G>R No ClinGen
TOPMed
CA400132590
rs1337576688
290 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA400132592
rs1332823704
290 R>H No ClinGen
TOPMed
CA8636347
rs771403201
292 I>V No ClinGen
ExAC
gnomAD
CA291425647
rs867806927
296 G>R No ClinGen
Ensembl
CA8636349
rs760149333
297 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1456195691
CA400132647
299 L>V No ClinGen
gnomAD
TCGA novel 300 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326197559
CA400132655
300 K>R No ClinGen
gnomAD
rs753438639
CA8636351
301 K>R No ClinGen
ExAC
gnomAD
rs1470236785
CA400132685
304 Q>H No ClinGen
TOPMed
rs1018284140
CA400132684
304 Q>L No ClinGen
TOPMed
rs1018284140
CA291425677
304 Q>R No ClinGen
TOPMed
CA291425694
rs868139251
309 K>N No ClinGen
Ensembl
rs1185408371
CA400132715
309 K>Q No ClinGen
TOPMed
rs982380285
CA291425690
309 K>R No ClinGen
Ensembl
CA8636354
rs200635549
311 T>A No ClinGen
ExAC
gnomAD
rs1441769609
CA400132731
311 T>I No ClinGen
TOPMed
TCGA novel 312 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291425714
rs868021649
313 S>F No ClinGen
Ensembl
COSM232524
CA8636356
rs368120375
314 S>L Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400132856
rs1598157270
328 T>S No ClinGen
Ensembl
rs369838701
CA8636375
329 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 331 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1166523778
CA400132881
332 A>G No ClinGen
gnomAD
rs1166523778
CA400132882
332 A>V No ClinGen
gnomAD
rs781124783
CA8636377
333 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA8636376
rs557512533
333 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA8636378
COSM167085
rs752711229
334 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA291426421
rs113922999
337 C>R No ClinGen
Ensembl
rs200690630
CA291426435
339 A>T No ClinGen
Ensembl
rs749449720
CA8636381
346 K>R No ClinGen
ExAC
gnomAD
CA8636382
rs771227164
348 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8636383
rs779104990
348 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA400132991
COSM189016
rs771227164
348 R>W large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1349043372
CA400133013
351 Y>C No ClinGen
gnomAD
CA400133028
rs1237101284
353 N>I No ClinGen
TOPMed
rs1598157362
CA400133043
355 V>G No ClinGen
Ensembl
CA400133047
rs1598157368
356 A>P No ClinGen
Ensembl
rs1334539377
CA400133051
356 A>V No ClinGen
TOPMed
CA8636384
rs746264929
359 S>N No ClinGen
ExAC
gnomAD
CA400133146
rs1243869529
369 N>S No ClinGen
Ensembl
rs1367344035
CA400133168
373 V>L No ClinGen
gnomAD
TCGA novel
CA400133189
rs1598158221
376 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA400133204
rs1452441310
378 A>V No ClinGen
TOPMed
rs377397969
CA8636404
382 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400133229
rs1318221519
382 A>V No ClinGen
gnomAD
rs1266908925
CA400133234
383 V>A No ClinGen
gnomAD
CA8636407
rs769324443
384 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs769324443
CA8636406
384 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs748846744
CA8636408
385 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8636409
rs748846744
385 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA400133251
rs1347709176
387 P>A No ClinGen
TOPMed
CA8636411
rs759245152
388 S>N No ClinGen
ExAC
gnomAD
rs767277963
CA8636412
389 S>G No ClinGen
ExAC
gnomAD
rs146124273
CA8636414
390 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1463263956
CA400133318
397 S>I No ClinGen
TOPMed
gnomAD
rs1463263956
CA400133317
397 S>T No ClinGen
TOPMed
gnomAD
CA400133337
rs1321755885
400 M>L No ClinGen
gnomAD
CA291427207
rs879156967
400 M>T No ClinGen
Ensembl
CA8636443
rs372405074
402 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400133370
rs1374084344
403 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs778356223
CA8636445
404 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs367847325
CA8636448
407 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs574660242
CA8636447
407 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs753200252
CA291427495
409 Q>L No ClinGen
Ensembl
rs746705512
CA400133417
410 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8636449
rs746705512
410 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8636452
rs761776197
414 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA400133454
rs1377751883
415 Q>H No ClinGen
gnomAD
TCGA novel 417 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769647368
CA8636453
419 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA400133485
rs1339350732
420 I>M No ClinGen
gnomAD
TCGA novel 422 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 426 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767892641
CA8636459
433 R>Q No ClinGen
ExAC
gnomAD
rs759726551
CA8636458
433 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs753037418
CA8636460
436 S>I No ClinGen
ExAC
gnomAD
rs1447590050
CA400133615
440 K>Q No ClinGen
gnomAD
COSM3387998
rs1567828109
CA400133660
445 E>K pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
rs775868755
CA8636478
447 P>T No ClinGen
ExAC
gnomAD
TCGA novel 449 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 450 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1392636319
CA400133693
450 K>Q No ClinGen
gnomAD
rs1384813692
CA400133697
450 K>R No ClinGen
TOPMed
gnomAD
CA400133696
rs1384813692
450 K>T No ClinGen
TOPMed
gnomAD
rs867424326
CA291427949
COSM980713
452 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA8636480
rs764506936
452 R>H No ClinGen
ExAC
gnomAD
CA8636481
rs754326846
453 M>I No ClinGen
ExAC
gnomAD
TCGA novel 453 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411557711
CA400133712
453 M>V No ClinGen
gnomAD
CA400133727
rs1328569902
455 I>F No ClinGen
gnomAD
CA8636482
rs757806717
455 I>M No ClinGen
ExAC
gnomAD
CA400133732
rs1598159558
456 I>V No ClinGen
Ensembl
rs765843488
CA8636483
457 T>A No ClinGen
ExAC
gnomAD
rs898125118
CA291427968
457 T>N No ClinGen
TOPMed
gnomAD
CA8636484
rs751061699
459 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 462 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755871368
CA400133860
473 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs752270787
CA8636506
473 K>Q No ClinGen
ExAC
gnomAD
CA8636507
rs755871368
473 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA291428401
rs267604937
476 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1296498386
CA400133896
478 N>S No ClinGen
TOPMed
gnomAD
CA291428405
rs985377212
482 P>T No ClinGen
Ensembl
CA8636509
rs753711889
493 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8636510
rs757206543
493 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs961565487
CA291428411
495 P>R No ClinGen
gnomAD
CA8636512
rs781338712
501 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745882726
CA8636513
509 T>K No ClinGen
ExAC
gnomAD
rs745882726
CA8636514
509 T>M No ClinGen
ExAC
gnomAD
rs1008328731 510 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758397448
CA8636532
515 N>Y No ClinGen
ExAC
gnomAD
COSM189017
CA400134166
rs1567828704
517 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA8636534
rs747113151
518 A>S No ClinGen
ExAC
gnomAD
rs986308034
CA291428677
522 V>I No ClinGen
TOPMed
TCGA novel 526 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 527 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400134243
rs1158618978
529 P>L No ClinGen
gnomAD
CA291428696
rs867369958
529 P>S No ClinGen
Ensembl
rs973944510
CA291428700
533 D>N No ClinGen
TOPMed
gnomAD
CA8636540
rs763329263
536 I>V No ClinGen
ExAC
gnomAD
rs771495169
CA8636541
537 V>M No ClinGen
ExAC
gnomAD
TCGA novel 538 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400134316
rs1598160504
540 I>V No ClinGen
Ensembl
rs1598160521
CA400134361
546 S>N No ClinGen
Ensembl
TCGA novel 548 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8636570
rs751477755
551 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400134424
rs1598162657
553 I>N No ClinGen
Ensembl
CA8636571
rs754950045
554 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 557 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 558 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401158246
CA400134466
560 V>I No ClinGen
TOPMed
rs1215544623
CA400134481
562 Q>E No ClinGen
Ensembl
CA400134484
rs1282004542
562 Q>R No ClinGen
gnomAD
rs955603212
CA291430193
564 H>R No ClinGen
TOPMed
CA400134534
rs1167427098
569 S>G No ClinGen
TOPMed
rs901948834
CA291430197
571 Q>L No ClinGen
Ensembl
TCGA novel 572 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1710440
CA8636578
rs749541733
575 R>Q Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
CA8636577
rs149888111
575 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1195152593
CA400134581
576 R>K No ClinGen
gnomAD
rs1598162738
CA400134599
578 K>C No ClinGen
Ensembl

No associated diseases with Q9NZI8

No regional properties for Q9NZI8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9NZI8

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Cytoplasm, perinuclear region
  • Cytoplasm, P-body
  • Cytoplasm, Stress granule
  • Cell projection, lamellipodium
  • Cell projection, dendrite
  • Cell projection, dendritic spine
  • Cell projection, growth cone
  • Cell projection, filopodium
  • Cell projection, axon
  • In the nucleus, located in discrete foci, coinciding with the sites of ACTB transcription (By similarity)
  • In the cytoplasm, localizes in cytoplasmic mRNP granules
  • Colocalizes with microtubules in growth cone filopodia and along neurites in neuronal cells (By similarity)
  • Cytoplasmic colocalization with ACTB mRNA is partially lost at the cell periphery, suggesting release of the transcript
  • In neuronal processes, exhibits fast retrograde and anterograde movements, when associated with ACTB mRNA; this motility is lost when the association is inhibited (By similarity)
  • In hippocampal neurons, predominantly located within dendrites, particularly at dendritic branching points in young cells, compared to axons (By similarity)
  • In axons, predominantly found in axonal branches and their growth cones (By similarity)
  • In motile cells, such as migrating fibroblasts, localizes to leading edges where it colocalizes with microtubules and microfilaments and to retracting tails (By similarity)
  • Dendritic levels are regulated by neuronal activity and glutaminergic signals: they are increased by KCl-induced depolarization, which induces rapid efflux from the cell body into dendrites, and decreased by the NMDA receptor agonist (By similarity)
  • In motile cells, transported towards the leading edge into the cortical region of the lamellipodia where it is connected to microfilaments (By similarity)
  • In response to cellular stress, such as oxidative stress or heat shock, recruited to stress granules, but not to processing bodies
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

15 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
CRD-mediated mRNA stability complex A protein complex that binds to, and promotes stabilization of, mRNA molecules containing the coding region instability determinant (CRD). In human, it may consist of IGF2BP1, HNRNPU, SYNCRIP/HNRNPQ, YBX1, and DHX9.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
filopodium Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
growth cone The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
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.
P-body A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules.

6 GO annotations of molecular function

Name Definition
mRNA 3'-UTR binding Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding Binding to an mRNA molecule at its 5' untranslated region.
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
N6-methyladenosine-containing RNA binding Binding to an RNA molecule modified by N6-methyladenosine (m6A), a modification present at internal sites of mRNAs and some non-coding RNAs.
RNA binding Binding to an RNA molecule or a portion thereof.
translation regulator activity Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome.

13 GO annotations of biological process

Name Definition
CRD-mediated mRNA stabilization An mRNA stabilization process in which one or more RNA-binding proteins associate with a sequence in the open reading frame called the coding region instability determinant (CRD).
dendrite arborization The process in which the anatomical structures of a dendritic tree are generated and organized into dendritic branches.
mRNA transport The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay Any process that stops, prevents or reduces the frequency, rate or extent of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay.
negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuronal stem cell population maintenance Any process in by an organism or tissue maintains a population of neuronal stem cells.
pallium cell proliferation in forebrain The multiplication or reproduction of pallium cells in the forebrain, resulting in the expansion of the cell population.
positive regulation of cytoplasmic translation Any process that activates or increases the frequency, rate or extent of cytoplasmic translation.
regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of mRNA stability involved in response to stress Any process that modulates the propensity of mRNA molecules to degradation that is part of a change in state or activity of a cell as a result of an exogenous disturbance.
regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5ZLP8 IGF2BP3 Insulin-like growth factor 2 mRNA-binding protein 3 Gallus gallus (Chicken) PR
O42254 IGF2BP1 Insulin-like growth factor 2 mRNA-binding protein 1 Gallus gallus (Chicken) PR
O00425 IGF2BP3 Insulin-like growth factor 2 mRNA-binding protein 3 Homo sapiens (Human) PR
Q9Y6M1 IGF2BP2 Insulin-like growth factor 2 mRNA-binding protein 2 Homo sapiens (Human) PR
Q96I24 FUBP3 Far upstream element-binding protein 3 Homo sapiens (Human) PR
Q15365 PCBP1 Poly(rC)-binding protein 1 Homo sapiens (Human) PR
Q5SF07 Igf2bp2 Insulin-like growth factor 2 mRNA-binding protein 2 Mus musculus (Mouse) PR
Q9CPN8 Igf2bp3 Insulin-like growth factor 2 mRNA-binding protein 3 Mus musculus (Mouse) PR
O88477 Igf2bp1 Insulin-like growth factor 2 mRNA-binding protein 1 Mus musculus (Mouse) PR
Q8CGX0 Igf2bp1 Insulin-like growth factor 2 mRNA-binding protein 1 Rattus norvegicus (Rat) PR
Q08CK7 igf2bp1 Insulin-like growth factor 2 mRNA-binding protein 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MNKLYIGNLN ESVTPADLEK VFAEHKISYS GQFLVKSGYA FVDCPDEHWA MKAIETFSGK
70 80 90 100 110 120
VELQGKRLEI EHSVPKKQRS RKIQIRNIPP QLRWEVLDSL LAQYGTVENC EQVNTESETA
130 140 150 160 170 180
VVNVTYSNRE QTRQAIMKLN GHQLENHALK VSYIPDEQIA QGPENGRRGG FGSRGQPRQG
190 200 210 220 230 240
SPVAAGAPAK QQQVDIPLRL LVPTQYVGAI IGKEGATIRN ITKQTQSKID VHRKENAGAA
250 260 270 280 290 300
EKAISVHSTP EGCSSACKMI LEIMHKEAKD TKTADEVPLK ILAHNNFVGR LIGKEGRNLK
310 320 330 340 350 360
KVEQDTETKI TISSLQDLTL YNPERTITVK GAIENCCRAE QEIMKKVREA YENDVAAMSL
370 380 390 400 410 420
QSHLIPGLNL AAVGLFPASS SAVPPPPSSV TGAAPYSSFM QAPEQEMVQV FIPAQAVGAI
430 440 450 460 470 480
IGKKGQHIKQ LSRFASASIK IAPPETPDSK VRMVIITGPP EAQFKAQGRI YGKLKEENFF
490 500 510 520 530 540
GPKEEVKLET HIRVPASAAG RVIGKGGKTV NELQNLTAAE VVVPRDQTPD ENDQVIVKII
550 560 570
GHFYASQMAQ RKIRDILAQV KQQHQKGQSN QAQARRK