Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q86UN2

Entry ID Method Resolution Chain Position Source
AF-Q86UN2-F1 Predicted AlphaFoldDB

366 variants for Q86UN2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA397600873
rs1394502457
3 R>C No ClinGen
gnomAD
rs751319746
CA8276750
3 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8276751
rs751319746
3 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1007760321
CA286868954
4 K>E No ClinGen
TOPMed
rs1377763390
CA397600864
5 G>R No ClinGen
gnomAD
CA397584430
rs1228214533
6 C>R No ClinGen
TOPMed
CA397584417
rs1302375382
7 C>R No ClinGen
TOPMed
CA397584413
rs751646002
7 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA8276724
COSM976324
rs751646002
7 C>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766551919
CA8276723
9 E>Q No ClinGen
ExAC
gnomAD
CA8276722
rs763186876
10 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs772848901
CA8276721
14 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs999368946
CA286838781
17 A>T No ClinGen
TOPMed
gnomAD
CA397584337
rs1190786066
17 A>V No ClinGen
TOPMed
gnomAD
rs761638112
CA8276719
18 E>K No ClinGen
ExAC
gnomAD
CA286838765
rs1044331632
22 G>D No ClinGen
Ensembl
rs1337210237
CA397583904
24 G>S No ClinGen
gnomAD
rs1194084375
CA397583887
26 P>L No ClinGen
TOPMed
rs746476813
CA8276716
27 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs150719821
CA8276717
27 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397583865
rs1225720410
30 V>M No ClinGen
gnomAD
TCGA novel 31 C>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326974609
CA397583838
33 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs530944036
CA8276712
34 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA286838728
rs889815822
37 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA397583789
rs1567846806
41 Q>E No ClinGen
Ensembl
rs755513471
CA8276708
42 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758542113
CA8276705
46 A>V No ClinGen
ExAC
gnomAD
rs750712981
CA8276704
47 A>S No ClinGen
ExAC
rs1251335399
CA397583731
49 P>L No ClinGen
gnomAD
TCGA novel 50 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764072507
CA8276700
54 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs528290556
CA8276699
56 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA8276697
rs771775825
57 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs745495757
CA8276696
58 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM3378097
CA8276695
rs773997178
58 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1355844566
CA397583670
59 V>A No ClinGen
gnomAD
CA8276693
rs748509266
59 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1326264318
CA397583654
62 Q>K No ClinGen
gnomAD
rs940194213
CA286838632
65 R>C No ClinGen
TOPMed
CA8276692
rs375704646
65 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397583626
rs1375961303
66 I>V No ClinGen
gnomAD
CA286838627
rs866759895
67 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8276691
rs201050462
67 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780091628
CA8276689
68 L>V No ClinGen
ExAC
gnomAD
rs1190764448
CA397583593
70 Q>P No ClinGen
TOPMed
gnomAD
TCGA novel 71 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 72 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8276684
rs753662485
72 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8276682
rs760687232
73 H>R No ClinGen
ExAC
gnomAD
rs368720546
CA8276683
73 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397583530
rs1213485252
74 F>V No ClinGen
gnomAD
rs1346083755
CA397583507
75 S>N No ClinGen
gnomAD
CA397583477
rs1434847531
77 A>G No ClinGen
TOPMed
rs759023275
CA8276679
77 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8276678
rs773768549
78 M>I No ClinGen
ExAC
gnomAD
CA397583467
rs1375042415
78 M>V No ClinGen
gnomAD
rs770571252
CA8276677
79 V>I No ClinGen
ExAC
gnomAD
CA397583432
rs1356039622
81 L>V No ClinGen
gnomAD
TCGA novel 82 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs938966669
CA286838513
83 I>M No ClinGen
TOPMed
gnomAD
CA286838520
rs969935626
83 I>V No ClinGen
TOPMed
CA397583361
rs1432638757
85 S>L No ClinGen
TOPMed
gnomAD
CA397583362
rs1432638757
85 S>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776972213
CA8276675
87 N>D No ClinGen
ExAC
rs1292008068
CA397583327
87 N>I No ClinGen
TOPMed
rs1292008068
CA397583329
87 N>S No ClinGen
TOPMed
CA8276673
rs747383114
90 Y>S No ClinGen
ExAC
gnomAD
rs1175577569
CA397583268
93 P>A No ClinGen
gnomAD
CA397583266
rs1175577569
93 P>T No ClinGen
gnomAD
CA8276670
rs542339526
97 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs778906681
CA8276668
100 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1179517958
CA397583166
108 G>S No ClinGen
TOPMed
rs11652394
CA286838357
111 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8276664
rs11652394
111 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8276665
rs372360468
111 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8276661
rs368763192
114 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8276662
rs767452609
114 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8276660
rs563257746
115 T>M No ClinGen
1000Genomes
ExAC
gnomAD
rs375151899
CA286838321
116 L>V No ClinGen
ESP
TCGA novel 119 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769437102
CA8276656
119 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8276654
rs372074978
124 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772608395
CA8276653
125 V>L No ClinGen
ExAC
gnomAD
CA397583020
rs1274542991
131 Y>C No ClinGen
gnomAD
CA8276650
rs770975627
132 L>V No ClinGen
ExAC
gnomAD
rs1359687529
CA397582985
136 G>E No ClinGen
gnomAD
rs778075693
CA8276648
136 G>R No ClinGen
ExAC
gnomAD
rs756440405
CA286838211
139 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs756440405
CA8276647
139 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA397582959
rs1434711147
140 L>F No ClinGen
TOPMed
gnomAD
CA8276646
rs752496885
141 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8276643
rs377049572
143 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1171656450
CA397582943
143 G>V No ClinGen
TOPMed
gnomAD
CA8276641
COSM1318534
rs373384654
144 V>I Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 145 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8276636
rs199769480
146 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276635
rs199769480
146 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276639
rs201429067
146 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276638
rs201429067
146 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8276637
rs199769480
146 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276631
rs567714935
147 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV000954999
CA8276632
rs181444163
147 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397582916
rs1276589062
149 H>P No ClinGen
TOPMed
gnomAD
rs1229011453
CA397582912
149 H>Q No ClinGen
gnomAD
CA397582915
rs1276589062
149 H>R No ClinGen
TOPMed
gnomAD
CA397582906
rs1296650374
150 S>I No ClinGen
gnomAD
rs1234702308
CA397582898
152 Q>K No ClinGen
gnomAD
rs779811649
CA8276625
160 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1464011443
CA397582831
161 I>V No ClinGen
gnomAD
CA8276623
rs749912127
162 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA397582809
rs1220560112
164 L>V No ClinGen
TOPMed
rs367650638
CA286838013
166 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA286838007
rs375946051
167 D>N No ClinGen
ESP
TOPMed
gnomAD
rs756897330
CA8276621
168 I>T No ClinGen
ExAC
gnomAD
rs763822561
CA8276619
170 V>M No ClinGen
ExAC
gnomAD
CA397582759
rs1178400594
171 D>A No ClinGen
gnomAD
CA397582754
rs1249260804
172 L>V No ClinGen
TOPMed
CA397582716
rs1273767304
177 H>Q No ClinGen
TOPMed
gnomAD
CA397582713
rs1211351597
178 L>V No ClinGen
gnomAD
rs766947257
CA8276616
182 G>D No ClinGen
ExAC
gnomAD
CA8276614
rs368659161
184 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770068855
CA8276613
184 K>R No ClinGen
ExAC
gnomAD
TCGA novel 186 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8276612
rs375476494
186 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776647226
CA8276611
189 G>D No ClinGen
ExAC
gnomAD
CA8276610
rs190874588
190 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397582583
rs1171163904
192 T>I No ClinGen
gnomAD
CA397582592
rs1597483661
192 T>P No ClinGen
Ensembl
CA286837882
rs888531814
194 R>Q No ClinGen
TOPMed
gnomAD
rs745871325
CA8276606
194 R>W No ClinGen
ExAC
gnomAD
CA397582550
rs1432751867
195 G>A No ClinGen
TOPMed
CA397582552
rs1432751867
195 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1188658733
CA397582539
196 L>P No ClinGen
gnomAD
CA286837859
rs1049843718
198 N>K No ClinGen
Ensembl
rs571713611
CA8276605
198 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 201 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397582439
rs1234981520
206 E>K No ClinGen
TOPMed
rs1597483617
CA397582421
207 N>T No ClinGen
Ensembl
CA397582378
rs1241277953
210 Q>R No ClinGen
gnomAD
CA397582364
rs1327241332
211 W>* No ClinGen
gnomAD
rs1254742014
CA397582346
212 V>A No ClinGen
Ensembl
rs1287793641
CA397582353
212 V>I No ClinGen
gnomAD
CA397582320
rs1357881333
214 H>Q No ClinGen
gnomAD
rs1415990553
CA397582327
214 H>Y No ClinGen
gnomAD
rs1209471146
CA397582294
216 A>V No ClinGen
TOPMed
CA8276600
rs751851270
217 F>L No ClinGen
ExAC
gnomAD
rs755814532
CA8276601
217 F>V No ClinGen
ExAC
gnomAD
rs1159873255
CA397582281
218 H>N No ClinGen
gnomAD
rs1597483577
CA397582260
219 D>A No ClinGen
Ensembl
rs773917232
CA8276597
219 D>E No ClinGen
ExAC
gnomAD
rs763553016
CA8276598
219 D>N No ClinGen
ExAC
gnomAD
rs1476172192
CA397582245
221 R>C No ClinGen
gnomAD
rs200262350
CA8276595
COSM1381264
221 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200262350
CA8276596
221 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8276594
rs776790977
222 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1447294066
CA397582227
224 T>I No ClinGen
gnomAD
CA397582226
rs1597483559
225 T>P No ClinGen
Ensembl
rs1263575616
CA397582188
230 N>S No ClinGen
gnomAD
CA8276593
rs768735130
231 N>T No ClinGen
ExAC
gnomAD
rs1463694782
CA397582175
232 S>G No ClinGen
gnomAD
rs1233932883
CA397582164
232 S>R No ClinGen
gnomAD
CA8276592
rs565712676
232 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1037263311
CA286837774
234 S>L No ClinGen
TOPMed
gnomAD
rs1327457813
CA397582079
238 G>S No ClinGen
gnomAD
CA397582030
rs1480220740
240 C>F No ClinGen
TOPMed
rs1480220740
CA397582034
240 C>Y No ClinGen
TOPMed
rs1432516691
CA397582013
242 A>T No ClinGen
gnomAD
CA8276589
rs187193472
243 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771911042
CA8276590
243 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs778757018
CA8276588
245 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA397581956
rs1447923264
246 A>G No ClinGen
gnomAD
rs748698371
CA8276586
246 A>T No ClinGen
ExAC
gnomAD
CA397581940
rs1214414435
248 E>K No ClinGen
gnomAD
rs1209830884
CA397581891
251 R>C No ClinGen
gnomAD
CA397581889
rs1340653930
251 R>H No ClinGen
TOPMed
gnomAD
rs761755972
CA8276582
254 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8276581
rs761755972
254 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA286837705
rs1042055508
256 P>A No ClinGen
TOPMed
gnomAD
CA8276580
rs202235318
256 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA286837702
rs202235318
256 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1042055508
CA397581797
256 P>S No ClinGen
TOPMed
gnomAD
rs1322280183
CA397581753
258 D>G No ClinGen
gnomAD
rs1398493778
CA397581705
260 G>C No ClinGen
gnomAD
CA397581703
rs1253673804
260 G>D No ClinGen
TOPMed
gnomAD
rs1428802231
CA397581673
262 R>C No ClinGen
TOPMed
gnomAD
rs753828517
CA8276577
262 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA286837676
rs753828517
262 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8276575
rs760795037
COSM270087
263 A>T large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs201739711
CA8276574
263 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397581649
rs1438935737
264 R>C No ClinGen
TOPMed
gnomAD
CA397581651
rs1438935737
264 R>G No ClinGen
TOPMed
gnomAD
CA286837634
rs1031533787
264 R>H No ClinGen
gnomAD
CA397581630
rs1369024141
266 L>M No ClinGen
TOPMed
CA8276570
rs770752769
267 W>L No ClinGen
ExAC
gnomAD
rs1281492760
CA397581576
269 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA397581586
rs1161263898
269 W>S No ClinGen
TOPMed
CA8276569
rs749290685
271 Q>H No ClinGen
ExAC
gnomAD
CA286837612
rs563774766
272 R>K No ClinGen
1000Genomes
gnomAD
CA8276568
rs777146216
272 R>S No ClinGen
ExAC
gnomAD
CA397581521
rs1337468366
273 F>L No ClinGen
gnomAD
rs769407342
CA8276567
274 R>Q No ClinGen
ExAC
gnomAD
CA286837609
rs772099286
274 R>W No ClinGen
TOPMed
gnomAD
CA286837600
rs966393829
275 G>C No ClinGen
Ensembl
CA8276565
rs780947741
279 A>T No ClinGen
ExAC
gnomAD
rs1423263163
CA397581421
281 P>R No ClinGen
TOPMed
gnomAD
rs1172094131
CA397581416
282 C>Y No ClinGen
gnomAD
rs750791987
CA8276563
284 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA286837598
rs750791987
284 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs779372066
CA8276562
285 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1567846136
CA397581358
286 G>R No ClinGen
Ensembl
CA8276558
rs760742955
288 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8276559
rs764521112
288 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1282798398
CA397581319
289 H>D No ClinGen
TOPMed
CA397581295
rs376570696
290 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376570696
CA8276556
290 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397581279
rs1223864647
291 Q>* No ClinGen
gnomAD
rs1597483348
CA397581251
292 D>E No ClinGen
Ensembl
rs1285903874
CA397581264
292 D>N No ClinGen
gnomAD
rs1355983520
CA397581239
293 L>P No ClinGen
gnomAD
rs958891088
CA286837537
297 R>T No ClinGen
TOPMed
rs1170248199
CA397581163
299 E>G No ClinGen
TOPMed
CA8276550
rs369588207
299 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA397581171
rs369588207
299 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199947070
CA8276548
302 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276549
rs747609277
302 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768388911
CA8276547
305 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA397581069
rs768388911
305 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA8276545
rs779131079
306 G>E No ClinGen
ExAC
gnomAD
CA8276544
rs757583703
307 P>A No ClinGen
ExAC
CA8276543
rs557485708
308 A>S No ClinGen
1000Genomes
ExAC
gnomAD
RCV000961450
CA8276542
rs77488612
308 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397581015
rs1216145496
310 P>L No ClinGen
gnomAD
CA8276538
rs755191284
311 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs755191284
CA397581003
311 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs751839922
CA8276537
312 Q>E No ClinGen
ExAC
gnomAD
rs762746649
CA8276535
313 I>M No ClinGen
ExAC
gnomAD
rs766528091
CA8276536
313 I>S No ClinGen
ExAC
gnomAD
rs772901845
CA8276534
315 S>T No ClinGen
ExAC
CA397580938
rs1226525547
316 H>Y No ClinGen
gnomAD
CA8276533
rs765195768
317 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs765195768
CA286837380
COSM3691406
317 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866035248
CA286837364
318 L>F No ClinGen
Ensembl
TCGA novel 319 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597483276
CA397580897
319 T>P No ClinGen
Ensembl
CA8276529
rs746529932
320 T>I No ClinGen
ExAC
gnomAD
CA8276527
rs572459222
322 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8276528
rs572459222
322 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8276526
rs749616876
323 R>S No ClinGen
ExAC
gnomAD
rs1413573820
CA397580842
324 A>S No ClinGen
gnomAD
CA286837352
rs868360880
324 A>V No ClinGen
Ensembl
CA8276524
rs189434887
325 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276523
rs189434887
325 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA397580821
rs1245771951
325 A>V No ClinGen
gnomAD
rs771199574
CA8276522
326 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8276521
rs535637325
326 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397580807
rs535637325
326 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751599612
CA8276520
329 H>Q No ClinGen
ExAC
gnomAD
rs911804844
CA397580742
330 H>L No ClinGen
gnomAD
CA397580738
rs1427559014
330 H>Q No ClinGen
TOPMed
rs911804844
CA286837259
330 H>R No ClinGen
gnomAD
CA8276519
rs375350984
331 S>P No ClinGen
ESP
ExAC
gnomAD
CA286837249
rs375350984
331 S>T No ClinGen
ESP
ExAC
gnomAD
rs1230291799
CA397580720
332 P>H No ClinGen
gnomAD
CA397580715
rs1230291799
332 P>L No ClinGen
gnomAD
TCGA novel 332 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750199465
CA8276517
333 H>D No ClinGen
ExAC
gnomAD
CA397580695
rs1434630113
333 H>R No ClinGen
gnomAD
rs991614274
CA286837234
334 G>A No ClinGen
TOPMed
gnomAD
CA397580679
rs991614274
334 G>D No ClinGen
TOPMed
gnomAD
CA8276515
rs761826663
334 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 338 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397580600
rs1437939279
340 G>S No ClinGen
TOPMed
CA397580591
rs1431939183
340 G>V No ClinGen
gnomAD
CA286837231
rs958778541
341 H>Y No ClinGen
TOPMed
CA8276511
rs774885649
342 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760221532
CA8276512
342 P>S No ClinGen
ExAC
gnomAD
rs770204500
CA8276507
344 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1390218073
CA397580527
345 P>L No ClinGen
TOPMed
gnomAD
CA8276506
rs748528237
345 P>S No ClinGen
ExAC
gnomAD
rs143202933
CA8276504
346 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8276505
rs148191398
346 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376372113
CA8276501
348 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8276500
rs750666647
350 R>G No ClinGen
ExAC
gnomAD
CA397580494
rs1367517650
351 K>R No ClinGen
TOPMed
gnomAD
CA286837176
rs770067596
352 P>L No ClinGen
TOPMed
gnomAD
rs1241384322
CA397580482
353 G>E No ClinGen
gnomAD
CA8276498
rs757043706
353 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 354 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1434976161
CA397580477
354 K>R No ClinGen
gnomAD
rs1013199849
CA286837145
358 N>K No ClinGen
TOPMed
gnomAD
CA8276495
rs760577801
362 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs752222188
CA8276494
362 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA397580420
rs752222188
362 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8276493
rs376728844
363 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 364 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397580379
rs527297405
368 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs527297405
CA8276492
368 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8276489
rs762129974
370 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs369151936
CA8276487
371 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8276486
rs747533348
372 K>N No ClinGen
ExAC
gnomAD
rs1282146281
CA397580360
372 K>Q No ClinGen
TOPMed
rs1349122455
CA397580350
373 Q>R No ClinGen
gnomAD
rs780165972
CA8276485
374 A>T No ClinGen
ExAC
CA8276484
rs771985326
374 A>V No ClinGen
ExAC
gnomAD
CA397580341
rs1403925983
375 P>A No ClinGen
gnomAD
TCGA novel 375 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779236623
CA8276482
376 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8276480
rs753664611
378 P>A No ClinGen
ExAC
gnomAD
CA8276476
rs767505803
385 Q>H No ClinGen
ExAC
gnomAD
CA8276477
rs199704619
385 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs944549209
CA286837048
385 Q>R No ClinGen
Ensembl
rs758906669
CA8276475
386 H>Q No ClinGen
ExAC
gnomAD
rs751103843
CA8276474
387 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs981499143
CA286837036
390 F>I No ClinGen
TOPMed
rs765970850
CA8276473
392 I>N No ClinGen
ExAC
gnomAD
CA397580212
rs1351912957
393 M>I No ClinGen
TOPMed
CA8276472
rs762629775
393 M>R No ClinGen
ExAC
gnomAD
CA8276471
rs375179009
395 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764420876
CA8276470
397 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs764420876
CA286837000
397 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA286837011
rs953324491
397 R>W No ClinGen
gnomAD
CA397580192
rs1277827590
398 P>T No ClinGen
TOPMed
rs775791709
CA8276468
404 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs542996365
CA397580140
405 A>D No ClinGen
1000Genomes
ExAC
gnomAD
rs376667761
CA8276467
405 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs542996365
CA8276466
405 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs774622219
CA8276465
406 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs749590901
CA8276463
406 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs749590901
CA8276464
406 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1366735115
CA397580135
407 R>G No ClinGen
TOPMed
gnomAD
CA397580127
rs1366554333
408 T>A No ClinGen
gnomAD
rs777700409
CA8276462
408 T>I No ClinGen
ExAC
gnomAD
CA397580126
rs1366554333
408 T>S No ClinGen
gnomAD
rs748636006
CA286836969
409 P>S No ClinGen
TOPMed
CA397580123
rs748636006
409 P>T No ClinGen
TOPMed
CA397580114
rs1248810935
410 I>T No ClinGen
gnomAD
rs574165669
CA8276461
411 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8276460
rs563904841
411 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397580105
rs1182890656
412 A>S No ClinGen
TOPMed
rs370518676
CA8276459
412 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA397580099
rs1211003447
413 P>H No ClinGen
gnomAD
rs1211003447
CA397580097
413 P>L No ClinGen
gnomAD
CA397580088
rs1264073646
415 G>R No ClinGen
gnomAD
TCGA novel 417 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347718140
CA397580036
420 S>Y No ClinGen
gnomAD
rs184673082
CA8276455
421 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1299282090
CA397579992
422 A>G No ClinGen
TOPMed
gnomAD
rs1299282090
CA397579988
422 A>V No ClinGen
TOPMed
gnomAD
CA8276452
rs764945936
424 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1323624124
CA397579942
426 G>R No ClinGen
gnomAD
CA397579919
rs1407040461
427 A>V No ClinGen
gnomAD
CA397579901
rs1162440225
428 S>F No ClinGen
gnomAD
rs1391772649
CA397579885
429 L>I No ClinGen
gnomAD
CA397579867
rs1190825455
430 L>M No ClinGen
gnomAD
CA397579850
rs1241645401
431 A>V No ClinGen
gnomAD
CA8276449
rs534972727
432 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1212367492
CA397579844
432 W>S No ClinGen
TOPMed
CA8276447
rs774569320
437 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA8276448
rs774569320
437 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749394684
CA8276445
438 V>F No ClinGen
ExAC
gnomAD
CA397579701
rs1277201699
439 T>I No ClinGen
gnomAD
rs1245550664
CA397579709
439 T>P No ClinGen
TOPMed
CA8276443
rs770088982
441 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA286836830
rs903237164
441 R>H No ClinGen
TOPMed
gnomAD
CA397579655
rs903237164
441 R>L No ClinGen
TOPMed
gnomAD

No associated diseases with Q86UN2

10 regional properties for Q86UN2

Type Name Position InterPro Accession
domain Cysteine-rich flanking region, C-terminal 255 - 305 IPR000483
repeat Leucine-rich repeat 101 - 171 IPR001611-1
repeat Leucine-rich repeat 174 - 233 IPR001611-2
repeat Leucine-rich repeat, typical subtype 76 - 98 IPR003591-1
repeat Leucine-rich repeat, typical subtype 99 - 123 IPR003591-2
repeat Leucine-rich repeat, typical subtype 124 - 147 IPR003591-3
repeat Leucine-rich repeat, typical subtype 148 - 171 IPR003591-4
repeat Leucine-rich repeat, typical subtype 172 - 195 IPR003591-5
repeat Leucine-rich repeat, typical subtype 196 - 219 IPR003591-6
repeat Leucine-rich repeat, typical subtype 220 - 243 IPR003591-7

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Lipid-anchor, GPI-anchor
  • Membrane raft
  • Perikaryon
  • Cell projection
  • Localized to the surface of neurons, including axons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
anchored component of plasma membrane The component of the plasma membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group, that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cell surface The external part of the cell wall and/or plasma membrane.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
chondroitin sulfate binding Binding to chondroitin sulfate, a glycosaminoglycan made up of two alternating monosaccharides: D-glucuronic acid (GlcA) and N-acetyl-D-galactosamine (GalNAc).
heparin binding Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

4 GO annotations of biological process

Name Definition
axon regeneration The regrowth of axons following their loss or damage.
corpus callosum development The process whose specific outcome is the progression of the corpus callosum over time, from its formation to the mature structure. The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provide communication between the right and left cerebral hemispheres.
negative regulation of axon regeneration Any process that stops, prevents, or reduces the frequency, rate or extent of axon regeneration.
negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).

37 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3MHH9 ECM2 Extracellular matrix protein 2 Bos taurus (Bovine) PR
P58874 OPTC Opticin Bos taurus (Bovine) PR
Q24K06 LRRC10 Leucine-rich repeat-containing protein 10 Bos taurus (Bovine) PR
Q9V780 Lap1 Protein lap1 Drosophila melanogaster (Fruit fly) PR
Q96NW7 LRRC7 Leucine-rich repeat-containing protein 7 Homo sapiens (Human) PR
Q8IWT6 LRRC8A Volume-regulated anion channel subunit LRRC8A Homo sapiens (Human) PR
Q9HCJ2 LRRC4C Leucine-rich repeat-containing protein 4C Homo sapiens (Human) PR
Q9UFC0 LRWD1 Leucine-rich repeat and WD repeat-containing protein 1 Homo sapiens (Human) PR
Q96L50 LRR1 Leucine-rich repeat protein 1 Homo sapiens (Human) PR
Q8IWK6 ADGRA3 Adhesion G protein-coupled receptor A3 Homo sapiens (Human) PR
Q7L1W4 LRRC8D Volume-regulated anion channel subunit LRRC8D Homo sapiens (Human) PR
Q8TDW0 LRRC8C Volume-regulated anion channel subunit LRRC8C Homo sapiens (Human) PR
Q38SD2 LRRK1 Leucine-rich repeat serine/threonine-protein kinase 1 Homo sapiens (Human) EV
Q96PB8 LRRC3B Leucine-rich repeat-containing protein 3B Homo sapiens (Human) PR
Q96FE5 LINGO1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Homo sapiens (Human) PR
A6H694 Lrrc63 Leucine-rich repeat-containing protein 63 Mus musculus (Mouse) PR
Q9D9Q0 Lrrc69 Leucine-rich repeat-containing protein 69 Mus musculus (Mouse) PR
Q8BGI7 Lrrc39 Leucine-rich repeat-containing protein 39 Mus musculus (Mouse) PR
Q7TT36 Adgra3 Adhesion G protein-coupled receptor A3 Mus musculus (Mouse) PR
P59383 Lrrn4 Leucine-rich repeat neuronal protein 4 Mus musculus (Mouse) PR
Q9D1T0 Lingo1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Mus musculus (Mouse) PR
Q8R502 Lrrc8c Volume-regulated anion channel subunit LRRC8C Mus musculus (Mouse) PR
Q80WG5 Lrrc8a Volume-regulated anion channel subunit LRRC8A Mus musculus (Mouse) PR
Q80TE7 Lrrc7 Leucine-rich repeat-containing protein 7 Mus musculus (Mouse) PR
Q5DU41 Lrrc8b Volume-regulated anion channel subunit LRRC8B Mus musculus (Mouse) PR
Q5RKR3 Islr2 Immunoglobulin superfamily containing leucine-rich repeat protein 2 Mus musculus (Mouse) PR
Q8C031 Lrrc4c Leucine-rich repeat-containing protein 4C Mus musculus (Mouse) PR
Q8K0S5 Rtn4rl1 Reticulon-4 receptor-like 1 Mus musculus (Mouse) PR
P70587 Lrrc7 Leucine-rich repeat-containing protein 7 Rattus norvegicus (Rat) PR
Q4V8G0 Lrrc63 Leucine-rich repeat-containing protein 63 Rattus norvegicus (Rat) PR
Q80WD0 Rtn4rl1 Reticulon-4 receptor-like 1 Rattus norvegicus (Rat) PR
Q9TZM3 lrk-1 Leucine-rich repeat serine/threonine-protein kinase 1 Caenorhabditis elegans SS
Q9SHI4 RLP3 Receptor-like protein 3 Arabidopsis thaliana (Mouse-ear cress) SS
Q5G5E0 PIRL5 Plant intracellular Ras-group-related LRR protein 5 Arabidopsis thaliana (Mouse-ear cress) PR
B0JZ65 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q68F79 lrrc8e Volume-regulated anion channel subunit LRRC8E Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B0R160 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MLRKGCCVEL LLLLVAAELP LGGGCPRDCV CYPAPMTVSC QAHNFAAIPE GIPVDSERVF
70 80 90 100 110 120
LQNNRIGLLQ PGHFSPAMVT LWIYSNNITY IHPSTFEGFV HLEELDLGDN RQLRTLAPET
130 140 150 160 170 180
FQGLVKLHAL YLYKCGLSAL PAGVFGGLHS LQYLYLQDNH IEYLQDDIFV DLVNLSHLFL
190 200 210 220 230 240
HGNKLWSLGP GTFRGLVNLD RLLLHENQLQ WVHHKAFHDL RRLTTLFLFN NSLSELQGEC
250 260 270 280 290 300
LAPLGALEFL RLNGNPWDCG CRARSLWEWL QRFRGSSSAV PCVSPGLRHG QDLKLLRAED
310 320 330 340 350 360
FRNCTGPASP HQIKSHTLTT TDRAARKEHH SPHGPTRSKG HPHGPRPGHR KPGKNCTNPR
370 380 390 400 410 420
NRNQISKAGA GKQAPELPDY APDYQHKFSF DIMPTARPKR KGKCARRTPI RAPSGVQQAS
430 440
SASSLGASLL AWTLGLAVTL R