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 Q96IU2

Entry ID Method Resolution Chain Position Source
AF-Q96IU2-F1 Predicted AlphaFoldDB

212 variants for Q96IU2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA121424011
rs904312589
2 R>S No ClinGen
TOPMed
gnomAD
CA121424009
rs915246544
3 S>N No ClinGen
TOPMed
gnomAD
rs1229557200
CA360327364
5 E>K No ClinGen
TOPMed
CA360327347
rs1265378384
6 P>Q No ClinGen
gnomAD
CA360327338
rs1398040546
7 A>D No ClinGen
TOPMed
rs752492611
CA3314741
9 T>A No ClinGen
ExAC
gnomAD
TCGA novel 9 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1041821286
CA121424004
10 M>T No ClinGen
TOPMed
gnomAD
rs956984173
CA360327283
CA121424000
11 D>E No ClinGen
TOPMed
CA3314740
rs764954901
11 D>H No ClinGen
ExAC
gnomAD
rs945742135
CA121423996
12 Q>E No ClinGen
TOPMed
gnomAD
rs945742135
CA121423998
12 Q>K No ClinGen
TOPMed
gnomAD
CA360327258
rs1337492939
13 A>V No ClinGen
gnomAD
CA360327254
rs1329520106
14 R>G No ClinGen
TOPMed
gnomAD
rs1343840583
CA360327251
14 R>H No ClinGen
TOPMed
CA360327253
rs1329520106
14 R>S No ClinGen
TOPMed
gnomAD
rs759492668
CA3314739
15 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA360327227
rs1281460716
17 D>N No ClinGen
TOPMed
CA121423992
rs911534498
19 A>P No ClinGen
Ensembl
rs1178250657
CA360327162
20 A>V No ClinGen
gnomAD
CA360327151
rs1470426154
21 A>E No ClinGen
TOPMed
gnomAD
rs1470426154
CA360327147
21 A>V No ClinGen
TOPMed
gnomAD
rs1424672007
CA360327137
22 R>L No ClinGen
TOPMed
gnomAD
CA360327139
rs1424672007
22 R>P No ClinGen
TOPMed
gnomAD
rs1424672007
CA360327141
22 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 22 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174551837
CA360327121
24 G>S No ClinGen
TOPMed
CA360327110
rs1377521165
25 Q>* No ClinGen
TOPMed
rs1417585318
CA360327105
25 Q>R No ClinGen
TOPMed
CA360327092
rs1471227567
26 C>S No ClinGen
TOPMed
gnomAD
CA360327079
rs1383913560
27 P>Q No ClinGen
TOPMed
rs987741438
CA121423989
28 G>R No ClinGen
TOPMed
CA360327067
rs1277688715
28 G>V No ClinGen
gnomAD
TCGA novel 30 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181801448
CA360327038
31 P>Q No ClinGen
TOPMed
gnomAD
rs1181801448
CA360327036
31 P>R No ClinGen
TOPMed
gnomAD
rs1351095754
CA360327018
33 P>A No ClinGen
TOPMed
rs1486476503
CA360327007
34 T>A No ClinGen
TOPMed
TCGA novel 37 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA121423980
rs965588295
37 P>L No ClinGen
TOPMed
gnomAD
rs181914313
CA3314736
38 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3314735
rs762005321
39 G>D No ClinGen
ExAC
gnomAD
TCGA novel 43 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1374479650
CA360326899
44 P>S No ClinGen
gnomAD
CA360326890
rs1455256601
45 Y>H No ClinGen
TOPMed
CA3314734
rs774283853
46 S>A No ClinGen
ExAC
gnomAD
rs952348044
CA360326873
46 S>C No ClinGen
TOPMed
gnomAD
CA121423972
rs952348044
46 S>F No ClinGen
TOPMed
gnomAD
CA121423968
rs973602994
47 E>K No ClinGen
TOPMed
gnomAD
rs1352812467
CA360326855
48 A>T No ClinGen
Ensembl
rs963840012
CA121423966
50 G>V No ClinGen
Ensembl
rs1026640852
CA121423964
52 F>C No ClinGen
TOPMed
gnomAD
rs1239063624
CA360326773
53 H>Q No ClinGen
TOPMed
CA360326755
rs1158064923
55 A>V No ClinGen
TOPMed
gnomAD
CA360326705
rs1468430853
60 G>R No ClinGen
TOPMed
CA360326678
rs1214334889
61 H>Q No ClinGen
TOPMed
CA360326656
rs1448310713
63 S>* No ClinGen
gnomAD
CA360326608
rs566987172
CA3314732
66 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA360326620
rs1456608084
66 W>R No ClinGen
TOPMed
rs1420609348
CA360326604
67 A>T No ClinGen
TOPMed
rs1215204857
CA360326600
67 A>V No ClinGen
gnomAD
rs544486879
CA121423955
68 T>P No ClinGen
Ensembl
rs1162474070
CA360326578
69 C>R No ClinGen
TOPMed
rs1246582133
CA360326561
70 R>C No ClinGen
TOPMed
gnomAD
CA360326562
rs1246582133
70 R>G No ClinGen
TOPMed
gnomAD
rs1345944526
CA360326517
74 E>A No ClinGen
TOPMed
gnomAD
CA3314730
rs749458270
74 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1345944526
CA360326515
74 E>V No ClinGen
TOPMed
gnomAD
rs1297693864
CA360326475
77 G>D No ClinGen
TOPMed
gnomAD
rs905713001
CA121423948
78 R>C No ClinGen
TOPMed
gnomAD
TCGA novel 78 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs546975061
CA121423946
79 G>S No ClinGen
1000Genomes
gnomAD
rs1405289107
CA360326441
80 P>L No ClinGen
gnomAD
CA360326446
rs1187138825
80 P>S No ClinGen
TOPMed
gnomAD
CA360326433
rs1316197020
81 G>D No ClinGen
TOPMed
CA360326412
rs1203942840
83 H>D No ClinGen
TOPMed
CA360326388
rs1412156294
84 A>V No ClinGen
gnomAD
rs746201187
CA3314727
87 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs746201187
CA3314728
87 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1256617234
CA360326284
92 H>Y No ClinGen
TOPMed
CA360326243
rs1223208497
95 S>N No ClinGen
TOPMed
gnomAD
rs1320982653
CA360326236
95 S>R No ClinGen
gnomAD
rs1185145619
CA360326227
96 A>V No ClinGen
TOPMed
gnomAD
CA360326213
rs1287476679
97 H>Q No ClinGen
TOPMed
gnomAD
CA360326206
rs1216069043
98 R>Q No ClinGen
gnomAD
CA360326209
rs1301453202
98 R>W No ClinGen
TOPMed
rs781745383
CA3314726
99 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA360326199
rs1362947437
99 R>W No ClinGen
gnomAD
rs1398353695
CA360326156
103 S>G No ClinGen
gnomAD
CA360326135
rs1415914622
106 A>T No ClinGen
TOPMed
TCGA novel 106 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1339139279
CA360326041
113 A>V No ClinGen
TOPMed
rs1309471555
CA360325999
116 P>L No ClinGen
TOPMed
CA360325997
rs1309471555
116 P>Q No ClinGen
TOPMed
CA360325983
rs1279311355
117 P>L No ClinGen
TOPMed
CA121423924
rs924160741
119 P>S No ClinGen
TOPMed
rs977050633
CA121423922
120 G>S No ClinGen
TOPMed
gnomAD
CA121423916
rs965890540
121 P>H No ClinGen
TOPMed
gnomAD
rs1243436694
CA360325932
121 P>S No ClinGen
TOPMed
gnomAD
rs911403053
CA121423914
126 E>K No ClinGen
TOPMed
gnomAD
rs1430721372
CA360325890
127 G>S No ClinGen
TOPMed
rs1348604631
CA360325878
129 W>R No ClinGen
gnomAD
CA360325859
rs1214598709
131 R>H No ClinGen
gnomAD
CA121423912
rs985167445
135 Q>* No ClinGen
TOPMed
rs1190097266
CA360325810
135 Q>R No ClinGen
TOPMed
CA360325771
rs1410922986
138 A>S No ClinGen
gnomAD
TCGA novel 138 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs952501477
CA121423909
141 V>M No ClinGen
TOPMed
gnomAD
rs1270427314
CA360325722
142 R>C No ClinGen
gnomAD
rs530122380
CA360325711
143 G>C No ClinGen
1000Genomes
TOPMed
CA360325709
rs1191202738
143 G>D No ClinGen
gnomAD
CA121423907
rs530122380
143 G>S No ClinGen
1000Genomes
TOPMed
rs1356279707
CA360325695
144 S>N No ClinGen
TOPMed
gnomAD
rs1580145662
CA360325698
144 S>R No ClinGen
Ensembl
rs1206511115
CA360325670
146 R>Q No ClinGen
gnomAD
CA360325675
rs1244860051
146 R>W No ClinGen
TOPMed
gnomAD
CA360325651
rs1257189430
147 E>D No ClinGen
gnomAD
rs1325861019
CA360325644
148 R>Q No ClinGen
gnomAD
CA360325646
rs1217098356
148 R>W No ClinGen
gnomAD
CA360325635
rs1284032590
149 E>A No ClinGen
TOPMed
gnomAD
CA360325626
rs1386231543
149 E>D No ClinGen
gnomAD
CA360325632
rs1284032590
149 E>G No ClinGen
TOPMed
gnomAD
CA360325617
rs1365544592
150 L>P No ClinGen
gnomAD
rs1365544592
CA360325615
150 L>R No ClinGen
gnomAD
CA360325612
rs1395244951
151 E>K No ClinGen
TOPMed
CA360325584
rs1444877126
152 R>L No ClinGen
TOPMed
gnomAD
rs1444877126
CA360325585
152 R>Q No ClinGen
TOPMed
gnomAD
rs1443557132
CA360325590
152 R>W No ClinGen
gnomAD
rs1329655804
CA360325575
153 R>C No ClinGen
gnomAD
CA360325562
rs1175906662
154 E>K No ClinGen
TOPMed
CA3314723
rs2303713
155 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs2303714
CA3314724
155 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1422410152
CA360325523
157 V>M No ClinGen
gnomAD
CA360325475
rs1196480586
159 Q>H No ClinGen
gnomAD
CA360325490
rs1237360765
159 Q>K No ClinGen
gnomAD
rs1035990533
CA360325461
160 G>C No ClinGen
TOPMed
gnomAD
rs1256859897
CA360325459
160 G>D No ClinGen
TOPMed
gnomAD
rs1035990533
CA121423899
160 G>R No ClinGen
TOPMed
gnomAD
CA360325448
rs1232764544
161 E>* No ClinGen
gnomAD
rs1310584847
CA360325435
161 E>D No ClinGen
gnomAD
rs1309218640
CA360325428
162 R>C No ClinGen
gnomAD
CA360325424
rs1325316264
162 R>P No ClinGen
TOPMed
CA360325407
rs1307572192
163 A>D No ClinGen
TOPMed
gnomAD
rs1376725093
CA360325417
163 A>T No ClinGen
gnomAD
CA360325409
rs1307572192
163 A>V No ClinGen
TOPMed
gnomAD
rs1243496788
CA360325375
166 R>G No ClinGen
gnomAD
CA360325371
rs1349751465
166 R>Q No ClinGen
TOPMed
CA360325360
rs1234199523
167 R>K No ClinGen
gnomAD
rs1286211143
CA360325348
168 R>W No ClinGen
TOPMed
rs1002792929
CA121423897
172 Q>E No ClinGen
TOPMed
rs1407273887
CA360325285
176 R>C No ClinGen
gnomAD
CA360325287
rs1407273887
176 R>S No ClinGen
gnomAD
rs1469532694
CA360325277
177 A>G No ClinGen
TOPMed
CA360325280
rs1341204674
177 A>P No ClinGen
Ensembl
CA360325273
rs1450536143
178 A>T No ClinGen
gnomAD
CA360325270
rs1288423479
178 A>V No ClinGen
TOPMed
gnomAD
CA3314721
rs531117283
179 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA121423893
rs531117283
179 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA121423891
rs565365861
180 Q>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs1356991879
CA360325255
181 A>E No ClinGen
gnomAD
CA360325253
rs1356991879
181 A>V No ClinGen
gnomAD
CA360325247
rs1160586164
182 R>L No ClinGen
gnomAD
CA121423889
rs545218118
183 R>W No ClinGen
1000Genomes
TOPMed
CA360325212
rs1580145398
188 E>A No ClinGen
Ensembl
rs1379554220
CA360325215
188 E>K No ClinGen
TOPMed
gnomAD
CA360325206
rs765047926
189 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1446262847
CA360325190
191 A>G No ClinGen
TOPMed
gnomAD
rs1446262847
CA360325189
191 A>V No ClinGen
TOPMed
gnomAD
rs1200150891
CA360325181
193 Q>* No ClinGen
gnomAD
rs1482365114
CA360325172
194 A>E No ClinGen
TOPMed
gnomAD
CA360325168
rs1262572928
195 R>W No ClinGen
TOPMed
gnomAD
rs1336230119
CA360325149
198 D>V No ClinGen
TOPMed
CA360325134
rs1271765589
200 S>R No ClinGen
TOPMed
rs753609606
CA3314718
201 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1182964236
CA360325125
202 R>C No ClinGen
TOPMed
CA360325123
rs1248767332
202 R>L No ClinGen
gnomAD
CA360325118
rs1235028321
203 E>A No ClinGen
TOPMed
rs766400104
CA3314717
205 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA360325099
rs1419238185
206 L>P No ClinGen
TOPMed
CA360325092
rs1376441807
207 G>D No ClinGen
TOPMed
gnomAD
CA360325094
rs1376441807
207 G>V No ClinGen
TOPMed
gnomAD
CA360325083
rs1290153829
208 W>C No ClinGen
TOPMed
gnomAD
CA121423876
rs944339162
209 A>D No ClinGen
TOPMed
gnomAD
CA3314715
rs774498544
209 A>T No ClinGen
ExAC
gnomAD
rs763294757
CA3314714
210 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA360325075
rs1561297155
210 P>L No ClinGen
Ensembl
rs763294757
CA3314713
210 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs75274568
CA3314709
213 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776853797
CA3314708
214 P>S No ClinGen
ExAC
gnomAD
CA360325047
rs1488027999
215 P>L No ClinGen
gnomAD
rs1194630385
CA360325052
215 P>T No ClinGen
gnomAD
rs747416575
CA360325033
217 K>N No ClinGen
ExAC
gnomAD
rs1244445943
CA360325027
218 D>V No ClinGen
gnomAD
TCGA novel 219 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA360325012
rs1357602823
220 P>L No ClinGen
gnomAD
CA3314704
rs370739839
221 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA121423858
rs868441142
222 G>D No ClinGen
Ensembl
CA121423856
rs868441142
222 G>V No ClinGen
Ensembl
CA360324999
rs747628565
223 D>N No ClinGen
ExAC
TOPMed
rs747628565
CA3314702
223 D>Y No ClinGen
ExAC
TOPMed
rs778587173
CA3314701
224 R>M No ClinGen
ExAC
gnomAD
rs1279738019
CA360324988
224 R>S No ClinGen
gnomAD
rs778587173
CA360324989
224 R>T No ClinGen
ExAC
gnomAD
rs1373898812
CA360324977
226 G>R No ClinGen
TOPMed
CA360324978
rs1373898812
226 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA360324973
rs1214989019
226 G>V No ClinGen
gnomAD
CA360324968
rs1580145200
227 C>S No ClinGen
Ensembl
rs1388449812
CA360324955
229 I>T No ClinGen
TOPMed
gnomAD
CA360324957
rs1295745219
229 I>V No ClinGen
gnomAD
rs1391314698
CA360324944
231 K>E No ClinGen
gnomAD
rs1456244447
CA360324927
233 L>P No ClinGen
gnomAD
rs1171743793
CA360324914
235 L>Y No ClinGen
TOPMed
gnomAD

No associated diseases with Q96IU2

1 regional properties for Q96IU2

Type Name Position InterPro Accession
domain Zinc finger, BED-type 43 - 104 IPR003656

Functions

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

5 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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 A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 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.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

13 GO annotations of biological process

Name Definition
actin filament 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 actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
endoplasmic reticulum localization Any process in which endoplasmic reticulum is transported to, and/or maintained in, a specific location within the cell.
establishment of spindle localization The directed movement of the spindle to a specific location in the cell.
mitochondrion localization Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell.
negative regulation of protein phosphorylation Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
positive regulation of canonical Wnt signaling pathway Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to glucose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
response to insulin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MRSGEPACTM DQARGLDDAA ARGGQCPGLG PAPTPTPPGR LGAPYSEAWG YFHLAPGRPG
70 80 90 100 110 120
HPSGHWATCR LCGEQVGRGP GFHAGTSALW RHLRSAHRRE LESSGAGSSP PAAPCPPPPG
130 140 150 160 170 180
PAAAPEGDWA RLLEQMGALA VRGSRREREL ERRELAVEQG ERALERRRRA LQEEERAAAQ
190 200 210 220 230
ARRELQAERE ALQARLRDVS RREGALGWAP AAPPPLKDDP EGDRDGCVIT KVLL