Q9NZI8
Gene name |
IGF2BP1 (CRDBP, VICKZ1, ZBP1) |
Protein name |
Insulin-like growth factor 2 mRNA-binding protein 1 |
Names |
IGF2 mRNA-binding protein 1, IMP-1, IMP1, Coding region determinant-binding protein, CRD-BP, IGF-II mRNA-binding protein 1, VICKZ family member 1, Zipcode-binding protein 1, ZBP-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10642 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for 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
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 |