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

32 structures for Q15109

Entry ID Method Resolution Chain Position Source
2E5E NMR - A 23-121 PDB
2ENS NMR - A 235-323 PDB
2L7U NMR - A 23-125 PDB
2LE9 NMR - A/D 235-327 PDB
2LMB NMR - A 363-404 PDB
2M1K NMR - A/C 23-121 PDB
2MJW NMR - A/C 23-121 PDB
2MOV NMR - A 23-125 PDB
3CJJ X-ray 185 A A 23-240 PDB
3O3U X-ray 150 A N 23-231 PDB
4LP4 X-ray 240 A A/B 23-231 PDB
4LP5 X-ray 380 A A/B 23-323 PDB
4OF5 X-ray 280 A A/B 23-237 PDB
4OFV X-ray 310 A A/B 23-235 PDB
4OI7 X-ray 310 A A/B 23-237 PDB
4OI8 X-ray 310 A A/B 23-237 PDB
4P2Y X-ray 230 A A 23-323 PDB
4XYN X-ray 255 A P 54-68 PDB
4YBH X-ray 240 A A 23-323 PDB
5D7F X-ray 130 A P 65-79 PDB
6VXG NMR - A 362-404 PDB
6XQ1 X-ray 151 A A/B 23-231 PDB
6XQ3 X-ray 171 A A/B 23-231 PDB
6XQ5 X-ray 180 A A/B 23-231 PDB
6XQ6 X-ray 190 A A/B 23-231 PDB
6XQ7 X-ray 180 A A/B 23-231 PDB
6XQ8 X-ray 182 A A/B 23-231 PDB
6XQ9 X-ray 230 A A/B 23-231 PDB
7LML X-ray 215 A A/B 23-231 PDB
7LMW X-ray 250 A A/B 23-231 PDB
8I9M EM 519 A B 23-233 PDB
AF-Q15109-F1 Predicted AlphaFoldDB

355 variants for Q15109

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1303246578
CA363521974
3 A>S No gnomAD
ClinGen
TCGA novel 4 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769151684
CA3738347
4 G>R No ExAC
TOPMed
gnomAD
ClinGen
CA363521954
rs1582726095
4 G>V No Ensembl
ClinGen
rs749621938
CA3738346
5 T>I No ExAC
TOPMed
gnomAD
ClinGen
rs780466274
CA3738345
6 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA363521927
rs1429110720
7 V>F No TOPMed
ClinGen
rs1582725950
CA363521910
8 G>A No Ensembl
ClinGen
rs770047253
CA3738344
11 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs746054660
CA3738343
12 L>M No ExAC
gnomAD
ClinGen
rs781349075
CA3738342
13 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 15 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490219403
CA363521795
17 W>* No gnomAD
ClinGen
rs372263884 18 G>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1462518063
CA363521733
18 G>E No ClinGen
gnomAD
TCGA novel 18 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3738325
rs781404248
19 A>G No ClinGen
ExAC
gnomAD
CA363521719
rs1351809323
20 V>I No TOPMed
ClinGen
CA363521699
rs1320964562
21 V>A No gnomAD
ClinGen
CA363521652
rs1279543943
25 N>Y No gnomAD
ClinGen
CA363521617
rs1437325653
27 T>I No TOPMed
ClinGen
CA363521611
rs771072935
28 A>S No ExAC
gnomAD
ClinGen
CA3738324
rs771072935
28 A>T No ClinGen
ExAC
gnomAD
rs17846804
CA3738323
28 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs144337279
CA363521604
29 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs754920335
CA3738321
29 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs144337279
CA3738322
29 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs753777863
CA3738320
30 I>M No ExAC
gnomAD
ClinGen
rs971829597
CA136917856
30 I>T No Ensembl
ClinGen
rs1034066092
CA136917880
30 I>V No ClinGen
TOPMed
gnomAD
CA3738318
rs780101221
31 G>D No ExAC
gnomAD
ClinGen
CA136917833
rs983388476
32 E>K No Ensembl
ClinGen
rs199964705
CA3738315
33 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs751092386
CA3738313
37 K>N No ExAC
gnomAD
ClinGen
CA3738312
rs201829223
38 C>W No ExAC
TOPMed
gnomAD
ClinGen
CA136917823
rs950976609
38 C>Y No Ensembl
ClinGen
CA3738311
rs762326598
40 G>R No ExAC
TOPMed
gnomAD
ClinGen
CA363521414
rs1376275470
44 K>E No gnomAD
ClinGen
CA363521383
rs1381450072
46 P>H No TOPMed
ClinGen
CA363521388
rs1226933150
46 P>S No TOPMed
gnomAD
ClinGen
rs35030981
CA3738304
48 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs375902201
CA3738305
48 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363521340
rs1392156413
50 E>K No ClinGen
gnomAD
rs35802968
CA3738302
51 W>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1004567640
CA136917786
51 W>G No TOPMed
gnomAD
ClinGen
rs890847537
CA136916324
54 N>S No TOPMed
ClinGen
rs1029338786
CA136916311
56 G>A No Ensembl
ClinGen
rs1361657410
CA363519865
56 G>S No gnomAD
ClinGen
rs766743440
CA3738286
57 R>G No ExAC
TOPMed
gnomAD
ClinGen
CA3738284
rs760899334
57 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs766743440
CA3738285
57 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs1267532993
CA363519816
58 T>I No gnomAD
ClinGen
rs1450389456
CA363519765
61 W>* No gnomAD
ClinGen
rs748270365
CA3738280
63 V>G No ClinGen
ExAC
gnomAD
CA3738281
rs772117797
63 V>I No ClinGen
ExAC
gnomAD
rs1225544408
CA363519666
65 S>Y No gnomAD
ClinGen
CA363519614
rs1282723686
69 G>R No ClinGen
gnomAD
CA3738278
rs769914792
70 G>S No ExAC
TOPMed
gnomAD
ClinGen
rs200718197
CA136916269
72 W>* No TOPMed
ClinGen
rs781231923
CA3738276
73 D>N No ExAC
gnomAD
ClinGen
CA3738275
rs757110799
74 S>G No ExAC
TOPMed
gnomAD
ClinGen
CA363519532
rs1382474149
74 S>N No gnomAD
ClinGen
rs1178205910
CA363519494
76 A>V No gnomAD
ClinGen
RCV000952525
rs80096349
CA3738273
77 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA3738272
rs752272002
77 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs752272002
CA3738271
77 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3738270
rs752272002
77 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA363519457
rs1402786409
79 L>F No TOPMed
ClinGen
rs755528021
CA3738268
79 L>R No ExAC
gnomAD
ClinGen
CA3738266
rs766755123
81 N>H No ExAC
gnomAD
ClinGen
rs1044599245
CA136916200
81 N>S No TOPMed
gnomAD
ClinGen
rs2070600 82 G>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_024500
CA3738264
rs2070600
82 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs767835218
CA3738263
84 L>P No ExAC
gnomAD
ClinGen
rs767835218
CA136916181
84 L>R No ExAC
gnomAD
ClinGen
CA136916185
rs983419885
84 L>V No Ensembl
ClinGen
CA136916177
rs920874056
85 F>S No ClinGen
TOPMed
rs762118793
CA3738262
86 L>F No ExAC
TOPMed
gnomAD
ClinGen
CA3738261
rs774609967
87 P>L No ExAC
TOPMed
gnomAD
ClinGen
rs1429914100
CA363519340
88 A>T No gnomAD
ClinGen
CA363519326
rs1258326838
89 V>I No TOPMed
ClinGen
CA3738257
rs770719664
90 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA363519265
rs1194729041
93 D>N No ClinGen
TOPMed
rs1469997690
CA363519241
94 E>D No ClinGen
gnomAD
CA136916140
rs955109132
95 G>A No Ensembl
ClinGen
CA363519182
rs777428643
98 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA3738255
rs777428643
98 R>Q Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1419563792
CA363519164
99 C>W No gnomAD
ClinGen
rs1475364918
CA363519149
100 Q>H No gnomAD
ClinGen
rs771797821
CA3738254
100 Q>L No ExAC
TOPMed
gnomAD
ClinGen
VAR_011338 100 Q>R No UniProt
CA363519138
rs747777558
101 A>E No ExAC
gnomAD
ClinGen
rs1582719739
CA363519144
101 A>T No Ensembl
ClinGen
CA3738253
rs747777558
101 A>V No ExAC
gnomAD
ClinGen
rs1329601620
CA363519121
102 M>T No gnomAD
ClinGen
rs1038867772
CA136916108
103 N>S No TOPMed
ClinGen
CA3738252
rs778489029
104 R>K No ExAC
gnomAD
ClinGen
rs778489029
CA136916107
104 R>M No ExAC
gnomAD
ClinGen
rs754514021
CA3738251
107 K>R No ExAC
gnomAD
ClinGen
rs753277480
CA3738250
108 E>K No ExAC
gnomAD
ClinGen
rs753277480
CA363519012
108 E>Q No ExAC
gnomAD
ClinGen
rs147376814
CA136916086
110 K>R No ESP
TOPMed
gnomAD
ClinGen
CA136916074
rs1033368340
112 N>K No Ensembl
ClinGen
rs1213984720
CA363518903
113 Y>C No gnomAD
ClinGen
rs373195347
CA3738248
114 R>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
COSM1443583
rs17846806
CA3738247
114 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA3738246
rs767739122
115 V>A No ClinGen
ExAC
gnomAD
rs1453036075
CA363518869
115 V>I No gnomAD
ClinGen
rs762171687
CA3738245
116 R>C No ExAC
gnomAD
ClinGen
CA3738244
rs764348350
116 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA3738243
rs764348350
116 R>L No ExAC
TOPMed
gnomAD
ClinGen
CA136916051
rs142731923
119 Q>* No ESP
TOPMed
ClinGen
CA363518281
rs1181586858
120 I>T No ClinGen
gnomAD
rs764471105
CA3738223
121 P>L No ExAC
gnomAD
ClinGen
rs1236437480
CA363518267
121 P>S No gnomAD
ClinGen
CA3738222
rs758692000
122 G>V No ClinGen
ExAC
gnomAD
CA3738221
rs752864070
123 K>E No ExAC
gnomAD
ClinGen
CA363518219
rs1490164394
124 P>S No gnomAD
ClinGen
CA3738220
rs765211637
125 E>* No ExAC
gnomAD
ClinGen
CA363518205
rs765211637
125 E>K No ExAC
gnomAD
ClinGen
CA3738219
rs759612451
125 E>V No ExAC
gnomAD
ClinGen
CA3738217
rs767375903
127 V>G No ExAC
gnomAD
ClinGen
rs773054732
CA363518166
127 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs773054732
CA3738218
127 V>L No ExAC
TOPMed
gnomAD
ClinGen
rs1346913561
CA363518126
129 S>P No TOPMed
gnomAD
ClinGen
rs1406097485
CA363518042
133 L>F No ClinGen
gnomAD
TCGA novel 134 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774118475
CA3738215
134 T>M No ExAC
TOPMed
ClinGen
CA136915719
rs970004346
135 A>V No gnomAD
ClinGen
CA3738212
rs748857863
137 V>F No ExAC
gnomAD
ClinGen
CA363517935
rs1346121969
139 N>S No gnomAD
ClinGen
rs372397484
CA363517484
CA363517479
141 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs372397484
CA3738187
141 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363517450
rs1462448081
143 T>A No gnomAD
ClinGen
CA3738185
rs747497137
144 C>R No ExAC
gnomAD
ClinGen
CA3738184
rs138726985
144 C>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1385606672
CA363517408
145 V>E No gnomAD
ClinGen
rs938707778
CA136915419
146 S>L No TOPMed
ClinGen
rs1582715341
CA363517374
148 G>R No Ensembl
ClinGen
TCGA novel 149 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363517325
rs1561877886
150 Y>* No Ensembl
ClinGen
rs758721461
CA3738183
151 P>L No ExAC
gnomAD
ClinGen
rs368175894
CA136915401
152 A>T No ESP
ClinGen
CA3738181
rs779015120
157 W>* No ExAC
TOPMed
gnomAD
ClinGen
CA3738180
rs188057660
159 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1340132310
CA363517119
159 L>V No TOPMed
ClinGen
rs753930486
CA3738179
161 G>W No ExAC
gnomAD
ClinGen
rs1280330660
CA363517011
163 P>L No TOPMed
ClinGen
rs780075796
CA3738178
164 L>V No ExAC
TOPMed
gnomAD
ClinGen
rs757232464
CA3738177
167 N>K No ExAC
TOPMed
gnomAD
ClinGen
rs1316165489
CA363516843
170 G>R No gnomAD
ClinGen
rs756213091
CA3738159
171 V>L No ExAC
gnomAD
ClinGen
rs750431822
CA3738158
172 S>P No ExAC
TOPMed
gnomAD
ClinGen
CA3738156
rs758356148
177 T>I No ExAC
gnomAD
ClinGen
rs1406700508
CA363516518
178 R>K No gnomAD
ClinGen
CA3738155
rs752477230
178 R>S No ExAC
TOPMed
gnomAD
ClinGen
CA136915261
rs370118672
179 R>G No ESP
TOPMed
gnomAD
ClinGen
CA363516476
rs1369648421
180 H>Y No TOPMed
ClinGen
CA363516465
rs1308432510
181 P>A No TOPMed
ClinGen
rs1386843555
CA363516439
182 E>D No gnomAD
ClinGen
rs765062897
CA3738154
182 E>K No ClinGen
ExAC
gnomAD
CA3738153
rs759204120
187 T>S No ExAC
TOPMed
gnomAD
ClinGen
rs1242015912
CA363516327
189 Q>P No TOPMed
ClinGen
rs766063160
CA3738152
190 S>* No ExAC
TOPMed
gnomAD
ClinGen
CA3738151
rs766063160
190 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs772521595
CA3738148
191 E>K No ExAC
gnomAD
ClinGen
rs1247762563
CA363516234
193 M>T No gnomAD
ClinGen
TCGA novel 193 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762348263
CA3738147
194 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA363516125
rs1247878317
195 T>I No TOPMed
ClinGen
CA363516091
rs1450290619
197 A>P No gnomAD
ClinGen
rs375056984
CA3738144
198 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs368048335
CA3738145
198 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363516037
rs1328669957
199 G>E No gnomAD
ClinGen
rs1266328695
CA363516004
201 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs1368252277
CA363515970
202 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs780256052
CA3738143
203 R>C No ExAC
gnomAD
ClinGen
CA3738142
rs769993380
203 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs373910069
CA3738141
206 F>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1433926283
CA363515876
207 S>F No gnomAD
ClinGen
rs781303691
CA3738140
207 S>P No ExAC
gnomAD
ClinGen
CA363515865
rs1404919101
208 C>R No TOPMed
ClinGen
rs1368198317
CA363515858
208 C>Y No TOPMed
gnomAD
ClinGen
rs1178009793
CA363515755
211 S>R No ClinGen
gnomAD
CA363515749
rs1469908411
212 P>S No gnomAD
ClinGen
rs767497303
COSM1546181
CA136915178
213 G>V lung [Cosmic] No Ensembl
ClinGen
cosmic curated
CA363515652
rs1244194657
215 P>R No TOPMed
gnomAD
ClinGen
rs562985782
CA3738136
215 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3738135
rs202226593
216 R>* No ExAC
TOPMed
gnomAD
ClinGen
CA3738134
rs202226593
216 R>G No ExAC
TOPMed
gnomAD
ClinGen
CA363515627
rs1246376753
216 R>Q No gnomAD
ClinGen
rs1205772220
CA363515609
217 H>R No ClinGen
gnomAD
rs766191033
CA3738131
218 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3738132
rs149408505
218 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA136915142
rs905897540
219 A>P No TOPMed
ClinGen
rs755823726
CA3738130
220 L>F No ExAC
gnomAD
ClinGen
rs749990828
CA3738129
221 R>C No ExAC
gnomAD
ClinGen
rs1434042548
CA363515521
221 R>H No gnomAD
ClinGen
rs1362733488
CA363515485
223 A>S No gnomAD
ClinGen
rs1338356284
CA363515453
224 P>H No TOPMed
gnomAD
ClinGen
rs767029626
CA3738128
225 I>L No ExAC
gnomAD
ClinGen
CA3738127
rs761176006
226 Q>* No ExAC
TOPMed
gnomAD
ClinGen
CA363515405
rs1197423769
226 Q>R No TOPMed
ClinGen
TCGA novel 227 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3738126
rs774950609
227 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA3738125
rs764437307
228 R>C No ExAC
gnomAD
ClinGen
rs763317920
CA3738124
228 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs754344673
CA136915103
229 V>I No Ensembl
ClinGen
CA3738123
rs775831505
230 W>C No ExAC
TOPMed
ClinGen
rs746070734
CA3738120
231 E>* No ExAC
gnomAD
ClinGen
CA363515089
rs539453209
CA3738096
231 E>D No ExAC
TOPMed
gnomAD
ClinGen
rs746070734
CA3738121
231 E>K No ExAC
gnomAD
ClinGen
rs1366680556
CA363515076
232 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA363515052
rs1409763628
233 V>E No ClinGen
TOPMed
gnomAD
CA363515032
rs1349122196
234 P>L No gnomAD
ClinGen
CA363514993
rs1295688607
237 E>K No ClinGen
gnomAD
CA3738095
rs780090863
238 V>F No ExAC
TOPMed
gnomAD
ClinGen
rs992416658
CA136914927
239 Q>* No ClinGen
Ensembl
CA363514938
rs1349644380
239 Q>P No gnomAD
ClinGen
rs17846799
CA3738093
241 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA3738092
rs780907936
242 V>M No ExAC
TOPMed
gnomAD
ClinGen
rs751124444
CA3738090
243 E>A No ExAC
gnomAD
ClinGen
CA3738089
rs777245704
244 P>Q No ExAC
gnomAD
ClinGen
CA363514817
rs1401530406
245 E>K No TOPMed
gnomAD
ClinGen
rs150282885
CA3738087
246 G>D No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs757859815
CA3738088
246 G>S No ExAC
gnomAD
ClinGen
CA3738086
rs765667409
247 G>E No ExAC
gnomAD
ClinGen
CA3738085
rs376859625
248 A>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363514730
rs376859625
248 A>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363514711
rs1466119818
249 V>A No ClinGen
gnomAD
rs754141936
CA3738083
250 A>G No ExAC
TOPMed
gnomAD
ClinGen
rs759673885
CA136914839
250 A>T No Ensembl
ClinGen
rs766692052
CA3738082
252 G>S No ExAC
TOPMed
gnomAD
ClinGen
rs772300820
CA3738078
255 V>I No ExAC
TOPMed
gnomAD
ClinGen
CA363514559
rs1216234933
256 T>A No TOPMed
ClinGen
rs775569298
CA3738076
259 C>F No ExAC
TOPMed
gnomAD
ClinGen
rs775569298
CA3738077
259 C>Y No ExAC
TOPMed
gnomAD
ClinGen
CA3738075
rs201178949
261 V>D No ExAC
TOPMed
gnomAD
ClinGen
rs745731408
CA3738074
262 P>R No ClinGen
ExAC
gnomAD
CA3738073
rs780821490
264 Q>* No ExAC
gnomAD
ClinGen
rs1176777162
CA363514314
267 P>S No gnomAD
ClinGen
TCGA novel 267 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000881806
CA3738072
rs140930365
COSM328183
271 W>R pancreas [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
ClinVar
dbSNP
CA363514196
rs1265018001
271 W>S No gnomAD
ClinGen
CA3738069
rs777368483
274 D>E No ExAC
gnomAD
ClinGen
rs746666846
CA3738070
274 D>N No ExAC
gnomAD
ClinGen
rs751726848
CA3738039
275 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3738038
rs764105620
276 V>M No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 277 P>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363513684
rs1473585151
279 P>S No TOPMed
gnomAD
ClinGen
CA136914517
rs566837079
281 P>L No 1000Genomes
ClinGen
rs763052062
CA3738036
281 P>S No ExAC
ClinGen
TCGA novel 283 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 283 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363513564
rs1465501937
284 P>H No TOPMed
ClinGen
CA3738034
rs776441058
284 P>S No ExAC
gnomAD
ClinGen
CA3738032
rs766283267
286 L>V No ExAC
TOPMed
gnomAD
ClinGen
CA363513492
rs1392301279
288 L>F No TOPMed
ClinGen
CA136914445
rs948481571
289 P>R No TOPMed
gnomAD
ClinGen
rs201866140
CA3738030
290 E>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363513409
rs1194395987
291 I>T No gnomAD
ClinGen
CA3738029
rs771753637
292 G>R No ExAC
gnomAD
ClinGen
CA3738027
rs201967398
293 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs747775472
CA3738028
293 P>S No ExAC
gnomAD
ClinGen
rs768082872
CA363513351
294 Q>* No ExAC
gnomAD
ClinGen
rs768082872
CA3738026
294 Q>E No ExAC
gnomAD
ClinGen
CA363513347
rs1561872833
294 Q>R No Ensembl
ClinGen
CA363513327
rs1317366314
295 D>G No TOPMed
ClinGen
rs748764768
CA3738024
298 T>A No ExAC
gnomAD
ClinGen
rs992491898
CA136914401
299 Y>* No TOPMed
gnomAD
ClinGen
rs1196731729
CA363513293
299 Y>S No TOPMed
ClinGen
CA3738022
RCV000881805
COSM328182
rs138178120
301 C>S pancreas [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
ClinVar
dbSNP
CA3738023
rs138178120
301 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363513274
rs1406915297
302 V>M No gnomAD
ClinGen
rs919204442
CA136914385
303 A>D No Ensembl
ClinGen
CA363513220
rs1391153880
305 H>R No gnomAD
ClinGen
CA3738020
rs781659987
308 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs751865269
CA3738019
308 H>Q No ExAC
TOPMed
gnomAD
ClinGen
CA3738017
rs138186526
CA3738016
309 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3738015
rs752810622
311 Q>R No ClinGen
ExAC
CA3738014
rs766294601
314 R>C No ExAC
gnomAD
ClinGen
CA3738013
RCV000966990
rs77170610
314 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA363513013
rs1453748410
316 V>I No ClinGen
gnomAD
CA3738012
rs529074355
317 S>G No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1209475983
CA363512988
317 S>N No gnomAD
ClinGen
rs1209475983
CA363512986
317 S>T No gnomAD
ClinGen
CA363512940
rs1332885836
319 S>I No gnomAD
ClinGen
rs767320838
CA363512903
321 I>M No ExAC
TOPMed
gnomAD
ClinGen
CA3738009
rs761554882
322 E>K No ExAC
TOPMed
gnomAD
ClinGen
rs1295731702
CA363511037
323 P>S No TOPMed
ClinGen
TCGA novel 324 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs552065901
CA136913837
325 E>K No ClinGen
1000Genomes
TOPMed
gnomAD
CA363510984
rs1473552449
326 E>A No gnomAD
ClinGen
rs1271261448
CA363510975
327 G>R No TOPMed
ClinGen
rs1344795526
CA363510935
328 P>S No TOPMed
ClinGen
rs1238974156
CA363510350
331 G>D No gnomAD
ClinGen
rs766011184
CA3737942
332 S>C No ExAC
gnomAD
ClinGen
CA363510307
rs1303897790
334 G>A No gnomAD
ClinGen
CA363510300
rs1370682651
335 G>A No TOPMed
gnomAD
ClinGen
rs1370682651
CA363510301
335 G>E No TOPMed
gnomAD
ClinGen
rs760066381
CA3737941
335 G>R No ExAC
gnomAD
ClinGen
CA3737940
rs773772892
337 G>E No ExAC
gnomAD
ClinGen
TCGA novel 337 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767852320
CA3737939
340 T>N No ExAC
TOPMed
gnomAD
ClinGen
rs1445275997
CA363510239
342 A>V No TOPMed
gnomAD
ClinGen
rs1012469882
CA136913614
344 A>S No TOPMed
gnomAD
ClinGen
TCGA novel 345 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149093508
CA3737936
346 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
gnomAD
ClinGen
NCI-TCGA
CA363510168
rs1393030718
347 I>F No gnomAD
ClinGen
rs1202810284
CA363510117
350 G>V No gnomAD
ClinGen
rs1483927285
CA363510083
352 G>E No gnomAD
ClinGen
CA363510037
rs145090083
355 A>P No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3737932
rs145090083
355 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1438823973
CA363509997
357 L>H No TOPMed
ClinGen
rs758267863
CA3737929
358 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs747997506
CA3737928
359 G>E No ExAC
gnomAD
ClinGen
CA3737925
rs754772182
361 I>T No ExAC
gnomAD
ClinGen
CA3737924
rs753577972
363 W>R No ExAC
gnomAD
ClinGen
CA3737922
rs559420109
366 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs559420109
CA3737921
366 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs529787297
CA3737923
366 R>W No 1000Genomes
ExAC
gnomAD
ClinGen
CA3737920
rs768135894
367 Q>P No ExAC
TOPMed
gnomAD
ClinGen
CA3737919
rs367834402
368 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3737917
rs373730068
368 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA363509812
rs373730068
368 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3737918
rs367834402
368 R>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA136913515
rs149968577
369 R>* No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3737915
rs149968577
369 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs3176931
CA3737914
369 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3737913
rs759732183
370 G>E No ExAC
gnomAD
ClinGen
CA136913514
rs546564455
CA3737912
371 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA136913513
rs1036107113
373 R>K No ClinGen
TOPMed
gnomAD
CA3737888
rs749159581
375 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA363509678
rs1332735215
375 A>V No gnomAD
ClinGen
CA3737887
rs779678781
378 N>K No ExAC
TOPMed
gnomAD
ClinGen
rs745528625
CA3737885
384 E>K No ExAC
TOPMed
gnomAD
ClinGen
rs373746820
CA3737884
385 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 387 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756762501
CA3737883
388 L>R No ExAC
gnomAD
ClinGen
CA3737882
rs370335494
389 N>H No ESP
ExAC
gnomAD
ClinGen
COSM1077835
rs147340908
CA3737881
391 S>L endometrium [Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs753154473
CA3737879
392 E>D No ExAC
TOPMed
gnomAD
ClinGen
CA3737877
rs745561854
393 E>G No ExAC
TOPMed
gnomAD
ClinGen
CA3737878
rs376556772
393 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs144228131
CA3737875
394 P>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3737876
rs144228131
394 P>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs144228131
CA3737874
394 P>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1373810135
CA363509194
397 G>D No ClinGen
TOPMed
rs200524532
CA3737872
397 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3737871
rs762956950
399 S>T No ExAC
gnomAD
ClinGen
CA363509101
rs1313492219
401 T>N No TOPMed
ClinGen
CA3737870
rs775449476
402 G>E No ExAC
TOPMed
gnomAD
ClinGen
CA363509080
rs1205664633
402 G>R No ClinGen
TOPMed
gnomAD
rs140366801
CA3737869
403 G>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3737867
rs776159506
405 P>C No ExAC
TOPMed
ClinGen

No associated diseases with Q15109

10 regional properties for Q15109

Type Name Position InterPro Accession
conserved_site Immunoglobulin/major histocompatibility complex, conserved site 299 - 305 IPR003006
domain Immunoglobulin subtype 2 29 - 106 IPR003598-1
domain Immunoglobulin subtype 2 250 - 308 IPR003598-2
domain Immunoglobulin subtype 23 - 118 IPR003599-1
domain Immunoglobulin subtype 244 - 321 IPR003599-2
domain Immunoglobulin-like domain 31 - 116 IPR007110-1
domain Immunoglobulin-like domain 124 - 221 IPR007110-2
domain Immunoglobulin-like domain 227 - 317 IPR007110-3
domain Immunoglobulin 23 - 110 IPR013151
domain CD80-like, immunoglobulin C2-set 124 - 218 IPR013162

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 1]: Cell membrane ; Single-pass type I membrane protein
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell surface The external part of the cell wall and/or plasma membrane.
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.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse The part of a synapse that is part of the post-synaptic cell.

9 GO annotations of molecular function

Name Definition
advanced glycation end-product receptor activity Combining with advanced glycation end-products and transmitting the signal to initiate a change in cell activity. Advanced glycation end-products (AGEs) form from a series of chemical reactions after an initial glycation event (a non-enzymatic reaction between reducing sugars and free amino groups of proteins). [GOC:signaling, PMID:12453678, PMID:12707408, PMID:7592757, PMID:9224812, Wikipedia:RAGE_(receptor)]
amyloid-beta binding Binding to an amyloid-beta peptide/protein.
identical protein binding Binding to an identical protein or proteins.
molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
protein-containing complex binding Binding to a macromolecular complex.
S100 protein binding Binding to a S100 protein. S100 is a small calcium and zinc binding protein produced in astrocytes that is implicated in Alzheimer's disease, Down Syndrome and ALS.
scavenger receptor activity Combining with any modified low-density lipoprotein (LDL) or other polyanionic ligand and delivering the ligand into the cell via endocytosis. Ligands include acetylated and oxidized LDL, Gram-positive and Gram-negative bacteria, apoptotic cells, amyloid-beta fibrils, and advanced glycation end products (AGEs).
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.
transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

47 GO annotations of biological process

Name Definition
astrocyte activation A change in morphology and behavior of an astrocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cellular response to amyloid-beta Any 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 amyloid-beta stimulus.
glucose mediated signaling pathway The process in which a change in the level of mono- and disaccharide glucose trigger the expression of genes controlling metabolic and developmental processes.
induction of positive chemotaxis Any process that initiates the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time.
microglial cell activation The change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.
negative regulation of blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation.
negative regulation of interleukin-10 production Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-10 production.
negative regulation of long-term synaptic depression Any process that stops, prevents or reduces the frequency, rate or extent of long term synaptic depression.
negative regulation of long-term synaptic potentiation Any process that stops, prevents or reduces the frequency, rate or extent of long-term synaptic potentiation.
neuron projection development 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).
positive regulation of activated T cell proliferation Any process that activates or increases the rate or extent of activated T cell proliferation.
positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process Any process that activates or increases the frequency, rate or extent of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process.
positive regulation of chemokine production Any process that activates or increases the frequency, rate, or extent of chemokine production.
positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation.
positive regulation of endothelin production Any process that activates or increases the frequency, rate or extent of endothelin production.
positive regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of heterotypic cell-cell adhesion Any process that activates or increases the frequency, rate, or extent of heterotypic cell-cell adhesion.
positive regulation of interleukin-1 beta production Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
positive regulation of interleukin-12 production Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.
positive regulation of interleukin-6 production Any process that activates or increases the frequency, rate, or extent of interleukin-6 production.
positive regulation of JNK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of JUN kinase activity Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of monocyte chemotactic protein-1 production Any process that activates or increases the frequency, rate, or extent of production of monocyte chemotactic protein-1.
positive regulation of monocyte extravasation Any process that activates or increases the frequency, rate or extent of monocyte extravasation.
positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
positive regulation of NIK/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of p38MAPK cascade Any process that activates or increases the frequency, rate or extent of p38MAPK cascade.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of tumor necrosis factor production Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
protein localization to membrane A process in which a protein is transported to, or maintained in, a specific location in a membrane.
regulation of CD4-positive, alpha-beta T cell activation Any process that modulates the frequency, rate or extent of CD4-positive, alpha-beta T cell activation.
regulation of DNA binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
regulation of long-term synaptic potentiation Any process that modulates the frequency, rate or extent of long-term synaptic potentiation.
regulation of NIK/NF-kappaB signaling Any process that modulates the frequency, rate or extent of NIK/NF-kappaB signaling.
regulation of p38MAPK cascade Any process that modulates the frequency, rate or extent of p38MAPK cascade.
regulation of spontaneous synaptic transmission Any process that modulates the frequency, rate or extent of spontaneous synaptic transmission.
regulation of synaptic plasticity A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
regulation of T cell mediated cytotoxicity Any process that modulates the frequency, rate, or extent of T cell mediated cytotoxicity.
response to amyloid-beta 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 amyloid-beta stimulus.
response to hypoxia 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to wounding 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 stimulus indicating damage to the organism.
transcytosis The directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side.
transport across blood-brain barrier The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAAGTAVGAW VLVLSLWGAV VGAQNITARI GEPLVLKCKG APKKPPQRLE WKLNTGRTEA
70 80 90 100 110 120
WKVLSPQGGG PWDSVARVLP NGSLFLPAVG IQDEGIFRCQ AMNRNGKETK SNYRVRVYQI
130 140 150 160 170 180
PGKPEIVDSA SELTAGVPNK VGTCVSEGSY PAGTLSWHLD GKPLVPNEKG VSVKEQTRRH
190 200 210 220 230 240
PETGLFTLQS ELMVTPARGG DPRPTFSCSF SPGLPRHRAL RTAPIQPRVW EPVPLEEVQL
250 260 270 280 290 300
VVEPEGGAVA PGGTVTLTCE VPAQPSPQIH WMKDGVPLPL PPSPVLILPE IGPQDQGTYS
310 320 330 340 350 360
CVATHSSHGP QESRAVSISI IEPGEEGPTA GSVGGSGLGT LALALGILGG LGTAALLIGV
370 380 390 400
ILWQRRQRRG EERKAPENQE EEEERAELNQ SEEPEAGESS TGGP