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 Q8N0Y2

Entry ID Method Resolution Chain Position Source
AF-Q8N0Y2-F1 Predicted AlphaFoldDB

301 variants for Q8N0Y2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA407608818
rs1234073720
4 A>V No ClinGen
gnomAD
rs1299833907
CA407608832
6 P>A No ClinGen
TOPMed
CA407608842
rs754068884
7 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA9686657
rs754068884
7 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA407608865
rs1396798055
9 Q>K No ClinGen
TOPMed
rs759781634
CA9686658
10 E>K No ClinGen
ExAC
gnomAD
CA310311658
rs1023916430
15 A>V No ClinGen
Ensembl
rs549994174
CA407608962
18 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs549994174
CA9686661
18 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs549994174
CA407608961
18 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA310311695
rs1020784236
19 P>L No ClinGen
TOPMed
gnomAD
rs781116038
CA9686662
19 P>S No ClinGen
ExAC
gnomAD
CA9686664
rs755571026
20 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1280058209
CA407608979
21 H>R No ClinGen
TOPMed
CA407608998
rs1394102033
24 R>C No ClinGen
gnomAD
rs1389794541
CA407609005
25 R>C No ClinGen
gnomAD
rs1387569181
CA407609012
26 F>V No ClinGen
TOPMed
CA407609029
rs1387929394
28 L>P No ClinGen
gnomAD
rs979752786
CA310311738
29 G>C No ClinGen
TOPMed
rs1285240377
CA407609036
30 D>N No ClinGen
gnomAD
rs1223080876
CA407609049
31 A>V No ClinGen
TOPMed
gnomAD
CA9686670
rs748484904
32 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs199638195
CA9686669
32 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9686672
rs773816954
33 G>D No ClinGen
ExAC
rs1485498833
CA407609064
34 P>L No ClinGen
gnomAD
rs953242071
CA310311765
37 A>S No ClinGen
Ensembl
TCGA novel 37 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1198163591
CA407609087
38 L>P No ClinGen
gnomAD
CA9686675
rs776825299
39 G>R No ClinGen
ExAC
rs1420566700
CA407609106
42 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1363628708
CA407609116
44 L>M No ClinGen
gnomAD
rs1305509470
CA407609130
46 R>W No ClinGen
gnomAD
CA9686679
rs761626897
47 D>N No ClinGen
ExAC
gnomAD
CA407609155
rs1404415090
50 R>G No ClinGen
gnomAD
CA407609161
rs1308803463
51 P>A No ClinGen
gnomAD
rs1316169438
CA407609195
56 K>E No ClinGen
gnomAD
CA407609214
rs1293866548
58 Q>R No ClinGen
gnomAD
rs1338587929
TCGA novel
CA407609270
66 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
NCI-TCGA
CA407609275
rs1481393793
67 Q>R No ClinGen
gnomAD
rs756014746
CA9686682
68 F>L No ClinGen
ExAC
CA310311836
rs865969174
70 S>C No ClinGen
Ensembl
CA9686685
rs555028758
70 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407609297
rs1368485926
71 A>T No ClinGen
TOPMed
CA9686686
rs368379187
71 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs924316183
CA310311893
74 A>S No ClinGen
gnomAD
rs924316183
CA407609313
74 A>T No ClinGen
gnomAD
CA310311898
rs938408515
74 A>V No ClinGen
Ensembl
CA407609318
rs1356391124
75 D>H No ClinGen
gnomAD
CA407609317
rs1356391124
75 D>N No ClinGen
gnomAD
COSM1234071
rs1440260567
COSM1234070
CA407609330
76 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1329879483
CA407609332
77 Q>E No ClinGen
Ensembl
CA407609336
rs1330901592
77 Q>R No ClinGen
TOPMed
rs1297854518
CA407609342
78 A>G No ClinGen
gnomAD
CA9686692
rs777338857
83 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA407609391
rs1396349066
85 P>Q No ClinGen
TOPMed
CA407609410
rs1245203324
88 G>R No ClinGen
gnomAD
CA407609420
rs1600017923
89 E>G No ClinGen
Ensembl
CA407609428
rs1600017943
90 E>G No ClinGen
Ensembl
CA407609442
rs1308772909
92 V>A No ClinGen
gnomAD
CA407609449
rs1201954501
93 A>V No ClinGen
gnomAD
CA310274303
rs770466482
101 P>L No ClinGen
Ensembl
CA407610175
rs1225719344
102 A>T No ClinGen
gnomAD
rs779065583
CA9686741
104 S>F No ClinGen
ExAC
gnomAD
rs772330274
CA407610194
105 P>H No ClinGen
ExAC
gnomAD
rs772330274
CA9686743
105 P>R No ClinGen
ExAC
gnomAD
CA9686746
rs769610318
106 D>A No ClinGen
ExAC
gnomAD
CA407610198
rs769610318
106 D>G No ClinGen
ExAC
gnomAD
rs759442720
CA9686745
106 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775285349 106 D>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA407610205
rs1413785865
107 G>A No ClinGen
gnomAD
CA407610204
rs1413785865
107 G>E No ClinGen
gnomAD
rs61736532
CA9686748
107 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9686749
rs763730603
108 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA407610211
rs763730603
108 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1599906593
CA407610223
110 A>V No ClinGen
Ensembl
CA407610225
rs1297105271
111 T>A No ClinGen
gnomAD
CA9686751
rs138577023
111 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750740169
CA9686753
112 R>S No ClinGen
ExAC
gnomAD
CA310274415
rs977966754
113 V>G No ClinGen
TOPMed
rs149328297
CA9686755
114 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407610243
rs1224761485
114 P>L No ClinGen
gnomAD
rs149328297
CA9686754
114 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149328297
CA407610240
114 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754371944
CA9686756
118 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs778942959
CA9686758
120 G>S No ClinGen
ExAC
gnomAD
rs199899267
CA9686759
122 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 123 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs75421504
CA310274470
128 E>G No ClinGen
Ensembl
rs745595927
CA9686763
129 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1265594327
CA407610342
130 S>G No ClinGen
TOPMed
rs61736531
CA9686764
130 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA9686766
CA9686765
rs775253507
132 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA310274502
rs371316425
134 P>H No ClinGen
ESP
TOPMed
gnomAD
rs371316425
CA310274516
134 P>L No ClinGen
ESP
TOPMed
gnomAD
CA310274496
rs972160444
134 P>S No ClinGen
TOPMed
CA407610405
rs1599911017
138 T>P No ClinGen
Ensembl
rs1194156299
CA407610411
139 A>T No ClinGen
TOPMed
rs760585109
CA9686790
139 A>V No ClinGen
ExAC
gnomAD
CA9686792
rs772689512
141 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA407610427
rs1191215607
142 A>T No ClinGen
TOPMed
rs760355555
CA9686793
143 E>A No ClinGen
ExAC
gnomAD
rs113942776
CA310275935
144 G>R No ClinGen
gnomAD
CA9686794
rs765989722
144 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1394840915
CA407610448
145 P>L No ClinGen
gnomAD
CA9686795
rs181632973
145 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407610453
rs1327125369
146 A>G No ClinGen
TOPMed
gnomAD
rs1327125369
CA407610454
146 A>V No ClinGen
TOPMed
gnomAD
CA310275993
rs939890414
148 G>R No ClinGen
TOPMed
gnomAD
CA407610470
rs753211900
149 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1256411302
CA407610472
149 D>E No ClinGen
gnomAD
CA407610466
rs1317582513
149 D>N No ClinGen
gnomAD
CA9686798
rs753211900
149 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA310276005
rs1034407461
150 S>Y No ClinGen
Ensembl
CA310276006
rs962418125
151 Q>R No ClinGen
Ensembl
CA9686799
rs762904995
154 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9686800
rs764260638
154 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1488336548
CA407610506
155 P>L No ClinGen
gnomAD
rs1324923835
CA407610501
155 P>T No ClinGen
TOPMed
rs751628290
CA9686801
156 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA310276026
rs919858746
158 Q>* No ClinGen
TOPMed
rs1171231732
CA407610539
160 P>S No ClinGen
TOPMed
rs1260567034
CA407610544
161 S>C No ClinGen
gnomAD
rs1477328283
CA407610546
161 S>N No ClinGen
gnomAD
rs1177559494
CA407610549
161 S>R No ClinGen
gnomAD
rs1379780570
CA407610552
162 S>G No ClinGen
gnomAD
rs1400670682
CA407610557
162 S>R No ClinGen
gnomAD
TCGA novel 163 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9686803
rs561422042
163 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA9686804
rs781619329
164 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA9686805
rs753625084
164 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs753625084
CA9686806
164 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA407610570
rs1247405849
165 L>P No ClinGen
TOPMed
CA407610577
rs1340085641
166 A>V No ClinGen
gnomAD
CA310276069
rs1053237718
167 P>R No ClinGen
TOPMed
gnomAD
rs377588822
CA9686807
167 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310276077
rs975034361
168 G>V Variant assessed as Somatic; 9.841e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs748137211
CA9686808
169 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA310276096
rs1011765400
171 A>P No ClinGen
TOPMed
gnomAD
CA407610598
rs1011765400
171 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 171 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777306882
CA9686810
173 L>P No ClinGen
ExAC
gnomAD
TCGA novel 173 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746568666
CA9686811
174 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA407610621
rs1232607968
175 A>S No ClinGen
gnomAD
rs1568566708
CA407610624
175 A>V No ClinGen
Ensembl
CA9686812
rs770557800
176 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 176 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1156909438
CA407610634
177 G>A No ClinGen
TOPMed
gnomAD
rs1156909438
CA407610633
177 G>D No ClinGen
TOPMed
gnomAD
CA407610635
rs1156909438
177 G>V No ClinGen
TOPMed
gnomAD
CA407610637
rs1352595657
178 T>A No ClinGen
TOPMed
rs913310599
CA310276138
179 T>M No ClinGen
Ensembl
CA9686815
rs770179725
182 P>S No ClinGen
ExAC
gnomAD
CA407610661
rs770179725
182 P>T No ClinGen
ExAC
gnomAD
rs1414781019
CA407610670
183 E>G No ClinGen
TOPMed
rs1369395070
CA407610668
183 E>K No ClinGen
gnomAD
rs575118358
CA407610683
185 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9686817
rs575118358
185 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1377509709
CA407610686
185 G>V No ClinGen
gnomAD
CA407610698
rs764572246
187 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA9686818
rs764572246
187 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs761807694
CA9686820
189 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA407610722
rs1599912083
191 P>R No ClinGen
Ensembl
CA407610720
rs1204294420
191 P>S No ClinGen
TOPMed
CA9686821
rs767781004
192 A>V No ClinGen
ExAC
gnomAD
rs1239224467
CA407610749
196 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA310276207
rs1030579692
197 H>Y No ClinGen
TOPMed
rs1442039630
CA407610763
198 R>P No ClinGen
TOPMed
gnomAD
rs1442039630
CA407610762
198 R>Q No ClinGen
TOPMed
gnomAD
rs754769812
CA9686823
200 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA407610785
rs1424491991
201 H>R No ClinGen
TOPMed
gnomAD
rs540433009
CA9686824
202 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407610819
rs1448851094
206 P>L No ClinGen
gnomAD
rs780787466
CA9686830
207 H>Y No ClinGen
ExAC
gnomAD
CA9686831
rs745544449
208 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs560741119
CA9686832
210 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs560741119
CA407610845
210 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1243641820
CA407610865
213 G>E No ClinGen
gnomAD
rs1406442264
CA407610873
214 K>T No ClinGen
TOPMed
rs1159723644
CA407610894
217 R>P No ClinGen
gnomAD
CA407610891
rs1473370110
217 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA310276262
rs532472688
218 R>C No ClinGen
1000Genomes
gnomAD
rs532472688
CA407610896
218 R>G No ClinGen
1000Genomes
gnomAD
CA9686836
rs769145306
219 K>M No ClinGen
ExAC
gnomAD
CA9686835
rs769145306
219 K>R No ClinGen
ExAC
gnomAD
CA407610908
rs1239562784
220 E>* No ClinGen
TOPMed
CA407610906
rs1239562784
220 E>K No ClinGen
TOPMed
rs1411778198
CA407610915
221 H>D No ClinGen
gnomAD
rs1411778198
CA407610916
221 H>Y No ClinGen
gnomAD
CA310276273
rs867836392
223 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA407610930
rs867836392
223 R>Q No ClinGen
gnomAD
CA407610933
rs1423987273
224 R>C No ClinGen
gnomAD
rs1467003669
CA407610934
224 R>H No ClinGen
gnomAD
TCGA novel 226 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407610955
rs1448731659
227 D>G No ClinGen
TOPMed
gnomAD
CA407610963
rs1218186897
228 T>R No ClinGen
TOPMed
CA407610977
rs1391697647
230 P>R No ClinGen
gnomAD
CA407610975
rs1295571435
230 P>S No ClinGen
gnomAD
TCGA novel 231 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 231 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1321704685
CA407610984
231 G>V No ClinGen
gnomAD
CA9686841
rs773473549
232 S>N No ClinGen
ExAC
gnomAD
CA310276302
rs1044326944
232 S>R No ClinGen
TOPMed
CA310276316
rs866559909
233 P>T No ClinGen
TOPMed
gnomAD
rs1455416608
CA407610996
234 G>S No ClinGen
TOPMed
CA310276335
rs928543324
237 G>A No ClinGen
TOPMed
rs1313272487
CA407611016
237 G>R No ClinGen
gnomAD
CA9686843
rs766776396
238 P>H No ClinGen
ExAC
TOPMed
CA310276349
rs938720779
238 P>S No ClinGen
TOPMed
rs1482968937
CA407611030
239 A>V No ClinGen
gnomAD
rs1351316518
CA407611036
241 R>C No ClinGen
gnomAD
rs891886397
CA310276356
241 R>H No ClinGen
TOPMed
gnomAD
CA407611047
rs1418556995
243 L>M No ClinGen
gnomAD
CA310276367
rs1012035696
244 P>S No ClinGen
TOPMed
gnomAD
rs1025351453
CA407611058
245 A>P No ClinGen
TOPMed
gnomAD
CA310276381
rs1025351453
245 A>S No ClinGen
TOPMed
gnomAD
CA407611062
rs1356879330
246 R>C No ClinGen
gnomAD
CA407611064
rs1356879330
246 R>G No ClinGen
gnomAD
CA407611072
rs1298352869
247 E>G No ClinGen
gnomAD
CA407611068
rs1433551177
247 E>K No ClinGen
gnomAD
rs752524959
CA9686844
251 A>T No ClinGen
ExAC
rs552719499
CA9686845
251 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407611124
rs1252070841
254 E>D No ClinGen
TOPMed
gnomAD
rs1221367915
CA407611134
256 G>S No ClinGen
gnomAD
CA9686849
rs145075834
258 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1277132010
CA407611164
260 Y>C No ClinGen
gnomAD
rs1030610758
CA310276431
260 Y>H No ClinGen
TOPMed
TCGA novel 262 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745426327
CA9686850
262 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs199754530
CA407611183
263 E>* No ClinGen
gnomAD
CA407611185
rs1599913447
263 E>G No ClinGen
Ensembl
rs199754530
CA310276452
263 E>K No ClinGen
gnomAD
rs1487403520
CA407611200
265 L>P No ClinGen
gnomAD
CA407611206
rs1241239879
266 V>A No ClinGen
gnomAD
CA407611204
rs1193257920
266 V>M No ClinGen
gnomAD
rs1478243060
CA407611210
267 R>C No ClinGen
gnomAD
CA310276464
rs966243956
268 H>L No ClinGen
Ensembl
rs755748360
CA9686851
268 H>Q No ClinGen
ExAC
gnomAD
rs1568567901
CA407611222
269 R>C No ClinGen
Ensembl
CA310276484
rs200554083
269 R>H No ClinGen
TOPMed
gnomAD
CA310276486
rs868037843
270 K>Q No ClinGen
Ensembl
CA407611237
rs1158706019
271 T>M No ClinGen
gnomAD
rs1361927135
CA407611251
273 S>L No ClinGen
gnomAD
rs779584226
CA9686852
274 G>R No ClinGen
ExAC
rs867834411
CA310276512
275 A>E No ClinGen
TOPMed
gnomAD
CA407611259
rs1317204846
275 A>S No ClinGen
gnomAD
CA407611260
rs867834411
275 A>V No ClinGen
TOPMed
gnomAD
CA9686853
rs749596185
276 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1370878373
CA407611266
277 P>T No ClinGen
gnomAD
CA310276530
rs975358348
279 A>T No ClinGen
Ensembl
CA407611286
rs1311501524
280 C>R No ClinGen
gnomAD
CA407611295
rs1351603157
281 W>R No ClinGen
gnomAD
rs1216088689
CA407611307
282 E>A No ClinGen
TOPMed
gnomAD
rs1216088689
CA407611308
282 E>G No ClinGen
TOPMed
gnomAD
CA310276545
rs955103675
283 C>R No ClinGen
TOPMed
rs1453604223
CA407611324
284 G>V No ClinGen
gnomAD
rs1244818085
CA407611326
285 K>E No ClinGen
gnomAD
CA407611355
rs1381559650
289 R>C No ClinGen
gnomAD
CA407611362
rs1157546745
290 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 290 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1406776903
CA407611365
291 E>K No ClinGen
gnomAD
rs1448079851
CA407611382
293 V>L No ClinGen
gnomAD
rs1448079851
CA407611381
293 V>M No ClinGen
gnomAD
CA407611393
rs1457615084
295 R>C No ClinGen
TOPMed
gnomAD
CA9686862
rs762773166
296 H>Q No ClinGen
ExAC
CA310276594
rs1045808425
298 R>G No ClinGen
Ensembl
CA9686864
rs751407962
302 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751407962
CA310276609
302 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1284892289
CA407611440
302 R>W No ClinGen
gnomAD
rs938569551
CA310276617
303 A>T No ClinGen
TOPMed
gnomAD
CA9686865
rs536095455
304 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA407611456
rs1568568352
305 A>G No ClinGen
Ensembl
rs767498333
CA9686866
306 S>R No ClinGen
ExAC
gnomAD
CA310276629
rs937193612
307 A>T No ClinGen
gnomAD
CA407611469
rs1239923450
307 A>V No ClinGen
gnomAD
TCGA novel 308 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310276644
rs898407311
309 G>E No ClinGen
TOPMed
gnomAD
CA310276639
CA407611478
rs1056075536
309 G>R No ClinGen
TOPMed
gnomAD
rs1568568427
CA407611484
310 A>E No ClinGen
Ensembl
rs913262293
CA310276648
310 A>S No ClinGen
TOPMed
gnomAD
rs913262293
CA407611483
310 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 310 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1466454857
CA407611487
311 V>I No ClinGen
gnomAD
rs1173356878
CA407611504
313 P>L No ClinGen
gnomAD
CA407611508
rs931249506
314 G>D No ClinGen
TOPMed
CA407611505
rs1350217294
314 G>S No ClinGen
TOPMed
CA310276654
rs931249506
314 G>V No ClinGen
TOPMed
CA407611511
rs1334866339
315 P>A No ClinGen
gnomAD
CA9686867
rs114090769
315 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407611526
rs1292924506
317 G>D No ClinGen
gnomAD
rs1313192299
CA407611535
319 G>S No ClinGen
gnomAD
CA407611551
rs1390034880
321 F>C No ClinGen
TOPMed
rs1219009898
CA407611556
322 P>A No ClinGen
gnomAD
CA9686869
rs779714767
322 P>R No ClinGen
ExAC
gnomAD
CA407611560
rs1195190229
323 P>S No ClinGen
gnomAD
CA310276662
rs1007945379
324 W>* No ClinGen
Ensembl
rs1443653837
CA407611568
324 W>G No ClinGen
TOPMed
gnomAD
rs1443653837
CA407611567
324 W>R No ClinGen
TOPMed
gnomAD
CA407611575
rs1185235122
325 P>A No ClinGen
gnomAD
rs1256358903
CA407611578
325 P>R No ClinGen
gnomAD
CA407611590
rs1242170639
327 G>V No ClinGen
gnomAD

No associated diseases with Q8N0Y2

5 regional properties for Q8N0Y2

Type Name Position InterPro Accession
domain SCAN domain 16 - 127 IPR003309
domain Zinc finger C2H2-type 179 - 206 IPR013087-1
domain Zinc finger C2H2-type 207 - 234 IPR013087-2
domain Zinc finger C2H2-type 250 - 277 IPR013087-3
domain Zinc finger C2H2-type 278 - 300 IPR013087-4

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
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.

4 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

1 GO annotations of biological process

Name Definition
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEVAVPVKQE AEGLALDSPW HRFRRFHLGD APGPREALGL LRALCRDWLR PEVHTKEQML
70 80 90 100 110 120
ELLVLEQFLS ALPADTQAWV CSRQPQSGEE AVALLEELWG PAASPDGSSA TRVPQDVTQG
130 140 150 160 170 180
PGATGGKEDS GMIPLAGTAP GAEGPAPGDS QAVRPYKQEP SSPPLAPGLP AFLAAPGTTS
190 200 210 220 230 240
CPECGKTSLK PAHLLRHRQS HSGEKPHACP ECGKAFRRKE HLRRHRDTHP GSPGSPGPAL
250 260 270 280 290 300
RPLPAREKPH ACCECGKTFY WREHLVRHRK THSGARPFAC WECGKGFGRR EHVLRHQRIH
310 320
GRAAASAQGA VAPGPDGGGP FPPWPLG