O43237
PR
Gene name |
DYNC1LI2 (DNCLI2, LIC2) |
Protein name |
Cytoplasmic dynein 1 light intermediate chain 2 |
Names |
Dynein light intermediate chain 2, cytosolic, LIC-2, LIC53/55 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1783 |
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
10 structures for O43237
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6F1T | EM | 350 A | i/j/q/r | 1-492 | PDB |
| 6F1Y | EM | 340 A | j | 37-373 | PDB |
| 6F38 | EM | 670 A | i/j/q/r | 1-492 | PDB |
| 6F3A | EM | 820 A | j | 1-492 | PDB |
| 7Z8F | EM | 2000 A | i/j/q/r | 1-492 | PDB |
| 7Z8I | EM | 330 A | j/r | 1-492 | PDB |
| 7Z8J | EM | 393 A | j/r | 1-492 | PDB |
| 7Z8K | EM | 437 A | i | 1-492 | PDB |
| 7Z8L | EM | 490 A | q | 1-492 | PDB |
| AF-O43237-F1 | Predicted | AlphaFoldDB |
313 variants for O43237
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334784379 CA396207585 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8095518 rs768489572 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380690505 CA396207568 |
5 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8095516 rs781507437 |
6 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1433943973 CA396207567 |
6 | V>M | No |
ClinGen gnomAD |
|
|
rs747045039 CA8095514 |
9 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353077627 CA396207519 |
13 | G>D | No |
ClinGen TOPMed |
|
|
CA282214338 rs1005306575 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396207508 rs755357986 CA8095507 |
15 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095508 rs779213659 |
15 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095506 rs753506815 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753506815 CA396207506 |
16 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755656481 CA8095504 |
17 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA396207500 rs1306229558 |
17 | P>S | No |
ClinGen gnomAD |
|
|
CA8095502 rs767021028 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA282214298 rs201821213 |
19 | V>M | No |
ClinGen gnomAD |
|
|
rs1389715219 CA396207482 |
20 | A>V | No |
ClinGen gnomAD |
|
|
rs1367692455 CA396207466 |
23 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA396207468 rs1439437822 |
23 | G>S | No |
ClinGen gnomAD |
|
|
rs763806362 CA8095499 |
24 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1305495782 CA396207463 |
24 | D>H | No |
ClinGen TOPMed |
|
|
rs986510486 CA282214283 |
26 | T>I | No |
ClinGen Ensembl |
|
|
rs1168053904 CA396207445 |
27 | S>G | No |
ClinGen gnomAD |
|
|
CA8095497 rs777024023 |
28 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396207426 rs1258550591 |
29 | E>V | No |
ClinGen TOPMed |
|
|
rs1191970307 CA396207421 |
30 | E>K | No |
ClinGen gnomAD |
|
|
CA8095496 rs771227727 |
31 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1479950869 CA396207391 |
34 | S>N | No |
ClinGen gnomAD |
|
|
CA8095455 rs761825724 |
37 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8095456 rs761825724 |
37 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs958578834 CA282214136 |
39 | I>M | No |
ClinGen TOPMed |
|
|
CA8095453 rs768693454 |
40 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774541792 CA8095454 |
40 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746203567 CA8095449 |
45 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1321663752 CA396207306 |
46 | R>H | No |
ClinGen gnomAD |
|
|
rs746609249 CA8095446 |
47 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396207296 rs1438827544 |
48 | R>K | No |
ClinGen TOPMed |
|
|
rs1438827544 CA396207295 |
48 | R>T | No |
ClinGen TOPMed |
|
|
rs1368509239 CA396207288 |
49 | S>C | No |
ClinGen gnomAD |
|
|
CA396207268 rs757970914 |
52 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757970914 CA8095444 |
52 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095443 rs142437839 |
54 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993994136 CA282214087 |
55 | K>R | No |
ClinGen TOPMed |
|
|
rs1246960068 CA396207240 |
57 | I>V | No |
ClinGen gnomAD |
|
|
CA396207234 rs754765250 |
58 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282214078 rs754765250 |
58 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 59 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753625163 CA8095440 |
60 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1209822862 CA396207217 |
61 | G>S | No |
ClinGen TOPMed |
|
|
rs776992732 CA8095412 |
62 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095411 rs766782099 |
63 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA396206626 rs1369366109 |
65 | S>C | No |
ClinGen gnomAD |
|
|
CA8095410 rs760882886 |
69 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396206602 rs1191309461 |
69 | T>N | No |
ClinGen TOPMed |
|
|
CA8095407 rs747784729 |
71 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771804470 CA8095408 |
71 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs577024535 CA8095409 |
71 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396206576 rs1475774495 |
73 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396206548 rs1393777212 |
78 | E>K | No |
ClinGen TOPMed |
|
|
CA282213215 rs183326765 |
82 | K>* | No |
ClinGen 1000Genomes |
|
|
TCGA novel CA8095403 rs374545682 |
83 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA8095402 rs755964308 |
85 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282213200 rs370142713 |
89 | L>V | No |
ClinGen ESP gnomAD |
|
|
rs758658867 CA8095399 |
90 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs927422570 CA282213194 |
90 | Y>H | No |
ClinGen Ensembl |
|
|
rs1243841977 CA396206455 |
92 | S>G | No |
ClinGen Ensembl |
|
|
CA8095397 rs765414318 |
92 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8095398 rs765414318 |
92 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1351584766 CA396206438 |
94 | H>Q | No |
ClinGen gnomAD |
|
|
COSM1640517 CA8095395 rs754376494 |
96 | E>D | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8095394 rs766756927 |
98 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM972203 CA8095393 rs761143885 |
98 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8095373 rs535495287 |
102 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762198514 COSM972202 CA8095372 |
103 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751253445 CA8095371 COSM260618 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762198514 CA396206368 |
103 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs917607980 CA282254518 |
105 | N>S | No |
ClinGen gnomAD |
|
|
rs774901981 CA8095368 |
106 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774901981 CA8095369 |
106 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8095366 rs759525518 |
110 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs376572030 CA8095365 |
115 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770719263 CA8095364 |
116 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA282254501 rs374039997 |
122 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8095362 rs779218838 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456346722 CA396206203 |
128 | L>F | No |
ClinGen gnomAD |
|
|
rs377723664 CA8095359 |
128 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1567455840 CA396206199 |
129 | P>S | No |
ClinGen Ensembl |
|
|
CA8095358 rs756252406 |
131 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1417088983 CA396206185 |
131 | T>I | No |
ClinGen TOPMed |
|
|
CA396206180 rs1165573989 |
132 | L>F | No |
ClinGen gnomAD |
|
|
CA396206181 rs1165573989 |
132 | L>V | No |
ClinGen gnomAD |
|
|
CA8095357 rs536599705 |
133 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441710522 CA396206134 |
138 | D>E | No |
ClinGen TOPMed |
|
|
CA8095354 rs751914954 |
139 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095355 rs138652360 |
139 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226685711 CA396206104 |
143 | W>* | No |
ClinGen TOPMed |
|
|
rs997405017 CA282254449 |
144 | T>N | No |
ClinGen Ensembl |
|
|
CA396206081 rs1250328199 |
146 | M>I | No |
ClinGen gnomAD |
|
|
CA396206087 rs1293168441 |
146 | M>L | No |
ClinGen TOPMed |
|
|
rs901820605 CA282254445 |
147 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 147 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8095352 rs374621092 |
153 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1036797242 CA282254439 |
153 | A>S | No |
ClinGen Ensembl |
|
|
rs140458673 CA8095350 |
157 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8095349 rs201506884 |
157 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 157 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396205991 rs1297471902 |
159 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1384791042 CA396205989 |
160 | I>V | No |
ClinGen gnomAD |
|
|
CA396205982 rs1377556128 |
161 | D>Y | No |
ClinGen Ensembl |
|
|
CA282254411 rs147140815 |
167 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA396205933 rs147140815 |
167 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA396205930 rs1294024385 |
168 | E>* | No |
ClinGen gnomAD |
|
|
CA396205931 rs1294024385 |
168 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396205904 rs1567455735 |
171 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1179641151 CA396205878 |
175 | R>Q | No |
ClinGen TOPMed |
|
|
rs772923854 CA8095345 |
175 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771899649 CA8095344 |
177 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419137652 CA396205833 |
180 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA396205831 rs1419137652 |
180 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8095321 rs770185457 |
182 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746054742 CA8095320 |
184 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1729921 rs200276795 CA8095319 |
185 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8095318 rs771028906 |
187 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA396205775 rs1205272225 |
187 | P>L | No |
ClinGen gnomAD |
|
|
rs1229155299 CA396205748 |
191 | C>Y | No |
ClinGen gnomAD |
|
|
CA396205738 rs747482221 |
192 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778275627 CA8095316 |
193 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8095315 rs758721680 |
199 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758721680 CA396205694 |
199 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748496932 CA396205680 |
202 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs952178223 CA282249690 |
202 | T>I | No |
ClinGen Ensembl |
|
|
rs748496932 CA8095314 |
202 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA282249688 rs988014701 |
205 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs988014701 CA396205661 |
205 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754666827 CA396205654 CA8095312 |
206 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388619521 CA396205659 |
206 | D>N | No |
ClinGen gnomAD |
|
|
rs1453906889 CA396205629 |
210 | V>I | No |
ClinGen gnomAD |
|
|
rs753488343 CA8095311 |
211 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755597613 CA8095309 |
213 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316114682 CA396205602 |
215 | G>R | No |
ClinGen TOPMed |
|
|
rs750336908 CA8095308 |
217 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202203026 CA8095307 |
217 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1352692829 CA396205583 |
218 | V>M | No |
ClinGen gnomAD |
|
|
CA396205574 rs1567452641 |
219 | L>P | No |
ClinGen Ensembl |
|
|
rs1244072592 CA396205576 |
219 | L>V | No |
ClinGen gnomAD |
|
|
CA396205552 rs1341363690 |
222 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1433408284 CA396205533 |
225 | I>M | No |
ClinGen gnomAD |
|
|
rs1422825690 CA396205531 |
226 | P>A | No |
ClinGen TOPMed |
|
|
rs1422825690 CA396205530 |
226 | P>S | No |
ClinGen TOPMed |
|
|
CA8095301 rs770920094 |
228 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760767565 CA8095300 |
229 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396205509 rs1169409339 |
230 | V>M | No |
ClinGen TOPMed |
|
|
CA8095279 rs138998809 |
236 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762368904 CA8095277 |
238 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA396205220 rs769016434 |
244 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs769016434 CA8095275 |
244 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780255261 CA8095273 |
245 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866965224 COSM3387525 CA282247928 |
247 | R>G | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA396205193 rs1274821608 |
247 | R>S | No |
ClinGen gnomAD |
|
|
CA8095272 rs769521813 |
248 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1347873208 CA396205170 |
250 | H>Q | No |
ClinGen gnomAD |
|
|
CA8095271 rs146626359 |
256 | S>A | No |
ClinGen ESP ExAC |
|
|
CA8095270 rs200522307 |
257 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396205119 rs1407446412 |
258 | L>M | No |
ClinGen gnomAD |
|
|
CA8095269 rs756767666 |
259 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751544781 CA8095268 |
260 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758289754 CA8095266 |
263 | L>P | No |
ClinGen ExAC |
|
|
CA396205076 rs752589224 |
264 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA396205079 rs1399833889 |
264 | Q>R | No |
ClinGen gnomAD |
|
|
CA282246279 rs971049485 |
265 | Y>F | No |
ClinGen Ensembl |
|
|
rs763505761 CA8095237 |
271 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA396204902 rs1453170523 |
274 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8095235 rs765637765 |
280 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095234 rs180710200 |
281 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs180710200 CA396204825 |
281 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396204789 rs190792545 |
283 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529881113 CA8095231 |
285 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772925299 CA8095230 |
287 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA282246192 rs774654018 |
289 | H>R | No |
ClinGen Ensembl |
|
|
CA396204676 rs1472376323 |
291 | T>I | No |
ClinGen TOPMed |
|
|
rs1246597822 CA396204672 |
292 | Y>H | No |
ClinGen gnomAD |
|
|
CA8095227 rs778651207 |
293 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA396204630 rs1244332817 |
297 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs371413263 CA8095225 |
299 | P>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs371413263 CA396204620 |
299 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs757537302 CA8095223 |
306 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA282246090 rs1006732534 |
308 | V>A | No |
ClinGen gnomAD |
|
|
rs777840298 CA8095221 |
308 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 309 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758341338 CA8095220 |
310 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA282244519 COSM1195925 rs201855076 |
316 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA396204048 rs1179452437 |
319 | K>N | No |
ClinGen TOPMed |
|
|
rs1480405486 CA396204045 |
320 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1596987879 CA396204025 |
321 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180760627 CA396203952 |
327 | F>C | No |
ClinGen TOPMed |
|
|
CA8095203 rs200872939 |
327 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307660806 CA396203940 |
328 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8095202 rs758526335 |
329 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396203933 rs1424175572 |
329 | T>I | No |
ClinGen TOPMed |
|
|
rs755502936 CA396203928 |
330 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095199 rs755502936 |
330 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095198 rs754383868 |
331 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095197 rs368729372 |
332 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396203898 rs1596987851 |
333 | E>K | No |
ClinGen Ensembl |
|
|
CA8095196 rs566955186 |
335 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750133866 CA8095195 |
336 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs776820398 CA8095193 |
341 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs886882250 CA282244432 |
342 | K>R | No |
ClinGen TOPMed |
|
|
rs1414372878 CA396203751 |
344 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8095190 rs375885888 |
345 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8095191 rs375885888 |
345 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330705996 CA396203606 |
349 | V>G | No |
ClinGen TOPMed |
|
|
CA8095161 rs749334921 |
351 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780262679 CA8095158 |
360 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1489462539 CA396203443 |
361 | V>L | No |
ClinGen TOPMed |
|
|
rs756728792 CA396203420 |
362 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567448834 CA396203417 |
363 | L>I | No |
ClinGen Ensembl |
|
|
CA282243324 rs375042058 |
367 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA396203317 rs1596986432 |
372 | K>E | No |
ClinGen Ensembl |
|
|
CA8095133 rs747442874 |
372 | K>N | No |
ClinGen ExAC |
|
|
CA8095132 rs75669353 |
373 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1596986421 CA396203308 |
373 | Q>P | No |
ClinGen Ensembl |
|
|
CA8095131 rs758105370 |
374 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA396203291 rs1463465038 |
376 | T>P | No |
ClinGen gnomAD |
|
|
rs148968848 CA8095130 |
378 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8095128 rs754427052 |
381 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA396202948 rs1469824465 |
392 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596986192 CA396202922 |
394 | T>P | No |
ClinGen Ensembl |
|
|
rs778487216 CA396202881 |
397 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396202879 rs1184501423 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM972198 rs778487216 CA8095112 |
397 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs903459257 CA282242102 |
400 | P>Q | No |
ClinGen TOPMed |
|
|
CA396202838 rs1567448186 |
401 | A>S | No |
ClinGen Ensembl |
|
|
rs1333626252 CA396202831 |
401 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 402 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396202822 rs1213933201 |
402 | S>G | No |
ClinGen TOPMed |
|
|
rs1254326319 CA396202800 |
403 | V>G | No |
ClinGen TOPMed |
|
|
CA8095108 rs756130545 |
404 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs113639428 CA282242084 |
405 | S>C | No |
ClinGen Ensembl |
|
|
rs974512713 CA282242074 |
406 | S>C | No |
ClinGen Ensembl |
|
|
CA396202734 rs1279747555 |
408 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396202732 rs1448769365 |
409 | G>S | No |
ClinGen gnomAD |
|
|
rs1380348562 CA396202722 |
409 | G>V | No |
ClinGen gnomAD |
|
|
rs371546212 CA282242035 |
410 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371546212 CA8095105 |
410 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8095102 rs201115328 |
412 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396202697 rs1400182238 |
413 | K>R | No |
ClinGen gnomAD |
|
|
CA8095100 rs559287417 |
415 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396202670 rs1398188925 |
417 | P>S | No |
ClinGen TOPMed |
|
|
CA8095098 rs773651007 |
419 | I>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972987241 CA282240577 |
421 | N>T | No |
ClinGen TOPMed |
|
|
rs1323259200 CA396202622 |
422 | N>S | No |
ClinGen gnomAD |
|
|
rs1213928906 CA396202537 |
434 | N>S | No |
ClinGen gnomAD |
|
|
rs1362485654 CA396202531 |
435 | S>R | No |
ClinGen gnomAD |
|
|
rs768051013 CA396202513 |
438 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA396202511 rs1567447322 |
438 | S>N | No |
ClinGen Ensembl |
|
|
rs768051013 CA8095075 |
438 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 440 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396202474 rs762283465 |
443 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8095074 rs762283465 |
443 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396202471 rs1190501973 COSM703928 |
444 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8095072 rs768894802 |
447 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1353145964 CA396202444 |
448 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748971013 CA8095071 |
450 | G>S | No |
ClinGen ExAC |
|
|
CA396202420 rs1596984888 |
452 | V>G | No |
ClinGen Ensembl |
|
|
rs1015922794 CA282240482 |
454 | S>I | No |
ClinGen gnomAD |
|
|
rs1015922794 CA396202408 |
454 | S>N | No |
ClinGen gnomAD |
|
|
CA396202398 rs1195293191 |
456 | A>T | No |
ClinGen gnomAD |
|
|
rs17852314 CA282240477 |
458 | K>N | No |
ClinGen Ensembl |
|
|
CA396202055 rs1434608090 |
460 | G>E | No |
ClinGen gnomAD |
|
|
rs750549573 CA8095051 |
461 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8095049 rs762371151 |
462 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1433618751 CA396202026 |
464 | V>M | No |
ClinGen TOPMed |
|
|
CA396202005 rs1235511823 |
466 | S>* | No |
ClinGen gnomAD |
|
|
rs764528630 CA8095047 |
466 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs200536051 CA8095046 |
467 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 467 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596983400 CA396201989 |
468 | V>A | No |
ClinGen Ensembl |
|
|
rs1306536514 CA396201991 |
468 | V>F | No |
ClinGen gnomAD |
|
|
rs1306536514 CA396201992 |
468 | V>I | No |
ClinGen gnomAD |
|
|
CA396201984 rs957058284 |
469 | Q>* | No |
ClinGen TOPMed |
|
|
rs957058284 CA282238552 |
469 | Q>E | No |
ClinGen TOPMed |
|
|
CA396201955 rs1224729563 |
472 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396201931 rs1379621487 |
475 | M>L | No |
ClinGen gnomAD |
|
|
rs145932509 CA8095045 |
476 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1488908339 CA396201920 |
476 | T>I | No |
ClinGen gnomAD |
|
|
CA8095044 rs759252005 |
477 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759252005 CA8095043 |
477 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776347746 CA8095042 |
477 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770500336 CA8095041 |
479 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs140054879 CA8095039 |
480 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140054879 CA282238502 |
480 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203386258 CA396201896 |
481 | S>A | No |
ClinGen gnomAD |
|
|
rs144068296 CA8095038 |
482 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8095037 rs747933710 |
483 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8095036 rs778745507 |
484 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396201873 rs1325574818 |
485 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1460868643 CA396201817 |
493 | A>R | No |
ClinGen gnomAD |
No associated diseases with O43237
No regional properties for O43237
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O43237 | |||
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasmic dynein complex | Any dynein complex with a homodimeric dynein heavy chain core that catalyzes movement along a microtubule. Cytoplasmic dynein complexes participate in many cytoplasmic transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Some complexes participate in intraflagellar transport. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes, and may include light chains and light intermediate chains. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dynein complex | Any of several large complexes that contain two or three dynein heavy chains and several light chains, and have microtubule motor activity. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| dynein heavy chain binding | Binding to a heavy chain of the dynein complex. |
| identical protein binding | Binding to an identical protein or proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to nerve growth factor stimulus | A process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nerve growth factor stimulus. |
| centrosome localization | Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6PDL0 | Dync1li2 | Cytoplasmic dynein 1 light intermediate chain 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPVGVEKKL | LLGPNGPAVA | AAGDLTSEEE | EGQSLWSSIL | SEVSTRARSK | LPSGKNILVF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GEDGSGKTTL | MTKLQGAEHG | KKGRGLEYLY | LSVHDEDRDD | HTRCNVWILD | GDLYHKGLLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FAVSAESLPE | TLVIFVADMS | RPWTVMESLQ | KWASVLREHI | DKMKIPPEKM | RELERKFVKD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FQDYMEPEEG | CQGSPQRRGP | LTSGSDEENV | ALPLGDNVLT | HNLGIPVLVV | CTKCDAVSVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKEHDYRDEH | LDFIQSHLRR | FCLQYGAALI | YTSVKEEKNL | DLLYKYIVHK | TYGFHFTTPA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LVVEKDAVFI | PAGWDNEKKI | AILHENFTTV | KPEDAYEDFI | VKPPVRKLVH | DKELAAEDEQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VFLMKQQSLL | AKQPATPTRA | SESPARGPSG | SPRTQGRGGP | ASVPSSSPGT | SVKKPDPNIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NNAASEGVLA | SFFNSLLSKK | TGSPGSPGAG | GVQSTAKKSG | QKTVLSNVQE | ELDRMTRKPD |
| 490 | |||||
| SMVTNSSTEN | EA |