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

4 structures for Q9Y5Y4

Entry ID Method Resolution Chain Position Source
6D26 X-ray 280 A A 1-339 PDB
6D27 X-ray 274 A A 1-339 PDB
7M8W X-ray 261 A A 1-339 PDB
AF-Q9Y5Y4-F1 Predicted AlphaFoldDB

378 variants for Q9Y5Y4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA222808428
rs899422732
3 A>D No ClinGen
Ensembl
rs868723708
CA222808430
3 A>T No ClinGen
gnomAD
rs749693737
CA6027127
4 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs756531361
CA6027125
5 A>D No ClinGen
ExAC
gnomAD
rs1331228556
CA380619563
5 A>T No ClinGen
gnomAD
CA380619556
rs756531361
5 A>V No ClinGen
ExAC
gnomAD
rs1443887935
CA380619543
6 T>I No ClinGen
gnomAD
CA380619513
rs1331888448
9 P>A No ClinGen
TOPMed
gnomAD
CA6027123
rs779367187
12 P>L No ClinGen
ExAC
gnomAD
CA380619464
rs1404978305
13 I>V No ClinGen
TOPMed
rs1478468727
CA380619445
14 L>P No ClinGen
gnomAD
CA380619442
rs1176877818
15 E>K No ClinGen
gnomAD
rs1439098402
CA380619425
16 Q>E No ClinGen
gnomAD
rs1439098402
CA380619423
16 Q>K No ClinGen
gnomAD
CA380619401
rs1239319568
17 M>T No ClinGen
gnomAD
rs1311971460
CA380619385
18 S>N No ClinGen
TOPMed
CA6027121
rs140107997
19 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380619361
rs1590579585
20 L>P No ClinGen
Ensembl
CA380619352
rs1441103287
21 Q>* No ClinGen
gnomAD
CA6027119
rs757092179
24 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA380619266
rs1345318629
26 T>I No ClinGen
gnomAD
rs1590579567
CA380619274
26 T>P No ClinGen
Ensembl
rs1305113045
CA380619242
28 I>N No ClinGen
gnomAD
CA6027118
rs763977880
29 R>C No ClinGen
ExAC
gnomAD
rs974931539
CA222808409
29 R>H No ClinGen
TOPMed
gnomAD
CA380619225
rs974931539
29 R>P No ClinGen
TOPMed
gnomAD
CA6027117
rs763977880
29 R>S No ClinGen
ExAC
gnomAD
rs760460958
CA6027116
30 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1333292970
CA380619180
32 D>G No ClinGen
gnomAD
CA380619187
rs1338537653
32 D>H No ClinGen
TOPMed
gnomAD
CA380619185
rs1338537653
32 D>Y No ClinGen
TOPMed
gnomAD
CA380619170
rs1377512340
33 H>N No ClinGen
gnomAD
CA380619168
rs1377512340
33 H>Y No ClinGen
gnomAD
rs759678740
CA6027114
34 A>G No ClinGen
ExAC
gnomAD
CA6027113
rs759678740
34 A>V No ClinGen
ExAC
gnomAD
CA380619129
rs1472077936
36 V>L No ClinGen
gnomAD
rs1472077936
CA380619133
36 V>M No ClinGen
gnomAD
rs1444433077
CA380619108
38 L>P No ClinGen
gnomAD
rs1188709002
CA380619112
38 L>V No ClinGen
TOPMed
gnomAD
TCGA novel
CA380619085
rs1214002175
40 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
rs1378201761
CA380619072
41 L>V No ClinGen
TOPMed
CA6027110
rs749549015
42 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA222808397
rs749549015
42 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6027108
rs770201396
44 L>P No ClinGen
ExAC
gnomAD
CA380618980
rs1296644438
49 E>* No ClinGen
gnomAD
CA380618974
rs1399606590
49 E>D No ClinGen
gnomAD
CA380618932
rs1361294052
53 I>V No ClinGen
gnomAD
rs1020410142
CA222808380
54 L>F No ClinGen
TOPMed
gnomAD
CA380618882
rs1164278891
56 V>L No ClinGen
TOPMed
gnomAD
rs1164278891
CA380618884
56 V>M No ClinGen
TOPMed
gnomAD
CA6027103
rs757981361
58 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA6027104
rs781753851
58 G>S No ClinGen
ExAC
gnomAD
rs1191130297
CA380618834
59 C>Y No ClinGen
TOPMed
gnomAD
CA222808364
rs942533419
60 R>C No ClinGen
TOPMed
rs145143849
CA380618816
60 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145143849
CA6027102
60 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380618800
CA380618798
rs1263389045
61 M>I No ClinGen
TOPMed
gnomAD
CA6027101
rs756927031
62 R>C No ClinGen
ExAC
gnomAD
rs373319775
CA6027099
62 R>H No ClinGen
ESP
ExAC
gnomAD
CA6027100
rs756927031
62 R>S No ClinGen
ExAC
gnomAD
rs989408283
CA222808353
65 V>M No ClinGen
gnomAD
CA380618749
rs1276033280
66 V>I No ClinGen
gnomAD
CA6027094
rs201972295
70 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1324851093
CA380618664
71 L>M No ClinGen
gnomAD
CA6027092
rs150731729
72 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1590579336
CA380618643
72 H>P No ClinGen
Ensembl
CA222808346
rs886432557
72 H>Q No ClinGen
TOPMed
rs150731729
CA380618646
72 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs556535305
CA6027089
74 A>E No ClinGen
1000Genomes
ExAC
gnomAD
rs773499365
CA6027090
74 A>P No ClinGen
ExAC
gnomAD
rs556535305
CA222808337
74 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA222808331
rs1023425447
77 D>G No ClinGen
TOPMed
gnomAD
rs1222265973
CA380618575
77 D>N No ClinGen
gnomAD
rs1318251339
CA380618522
80 A>V No ClinGen
gnomAD
CA380618503
rs1298088096
81 S>F No ClinGen
gnomAD
rs777269301
CA6027087
82 A>V No ClinGen
ExAC
gnomAD
CA380618463
rs1275484342
84 L>P No ClinGen
TOPMed
gnomAD
rs1275484342
CA380618465
84 L>Q No ClinGen
TOPMed
gnomAD
rs1331179942
CA380618448
85 P>L No ClinGen
gnomAD
rs536997157
CA6027086
85 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA222808322
rs991379420
86 F>L No ClinGen
Ensembl
CA380618400
rs1356626307
88 T>I No ClinGen
gnomAD
CA380618389
rs1393363442
89 Y>H No ClinGen
TOPMed
rs868760358
CA222808321
92 A>D No ClinGen
gnomAD
rs868760358
CA380618324
92 A>V No ClinGen
gnomAD
rs1193741895
CA380618318
93 V>M No ClinGen
gnomAD
rs1236293106
CA380618285
95 H>Y No ClinGen
gnomAD
CA380618257
rs1177929656
96 S>L No ClinGen
gnomAD
rs1208337071
CA380618217
98 E>D No ClinGen
gnomAD
rs1252834706
CA380618232
98 E>K No ClinGen
gnomAD
rs1311864237
CA380618164
102 T>I No ClinGen
gnomAD
CA380618172
rs1590579209
102 T>P No ClinGen
Ensembl
CA6027083
rs567746955
104 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1448138536
CA380618095
106 L>P No ClinGen
gnomAD
CA222808310
rs1016441688
107 H>Y No ClinGen
TOPMed
gnomAD
TCGA novel 113 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6027081
rs777522390
114 N>H No ClinGen
ExAC
gnomAD
CA380617990
CA6027080
rs755857823
115 M>L No ClinGen
ExAC
gnomAD
rs1436105635
CA380617974
117 A>T No ClinGen
gnomAD
CA6027078
rs780977793
119 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA380617943
rs1267415201
121 L>R No ClinGen
TOPMed
CA380617940
rs1482775174
122 L>F No ClinGen
gnomAD
CA222808296
rs950681359
122 L>P No ClinGen
TOPMed
gnomAD
rs1030738989
CA222808293
124 A>T No ClinGen
gnomAD
rs1565098380
CA380617921
125 I>N No ClinGen
Ensembl
rs1285373730
CA380617923
125 I>V No ClinGen
TOPMed
gnomAD
CA380617906
rs1311123631
127 L>P No ClinGen
gnomAD
CA380617908
rs1319286138
127 L>V No ClinGen
gnomAD
CA380617901
rs1590579125
128 D>A No ClinGen
Ensembl
rs766394399
CA6027076
129 R>H No ClinGen
ExAC
gnomAD
CA6027075
rs766394399
129 R>P No ClinGen
ExAC
gnomAD
CA380617888
rs1313183771
130 C>S No ClinGen
TOPMed
gnomAD
CA380617885
rs1416207905
130 C>W No ClinGen
gnomAD
CA380617889
rs1313183771
130 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA222808288
rs997564963
131 L>P No ClinGen
Ensembl
rs1187809995
CA380617880
132 Q>K No ClinGen
TOPMed
rs1259013577
CA380617876
132 Q>R No ClinGen
TOPMed
rs901904459
CA222808283
134 V>A No ClinGen
TOPMed
rs180805093
CA6027072
134 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs571378284
CA6027068
135 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs571378284
CA6027069
135 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777073027
CA6027070
135 R>W No ClinGen
ExAC
gnomAD
CA6027067
rs148279533
136 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1487444524
CA380617855
137 V>M No ClinGen
gnomAD
CA380617840
rs1565098345
139 A>T No ClinGen
Ensembl
rs777277288
CA6027064
143 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6027063
rs531558021
143 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1244693162
CA380617801
144 T>I No ClinGen
gnomAD
CA222808267
rs945653182
145 V>G No ClinGen
TOPMed
gnomAD
TCGA novel 145 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380617787
rs1338001903
147 A>T No ClinGen
gnomAD
CA6027059
rs370596613
147 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs56067229
CA6027058
148 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1291758942
CA380617773
149 H>Q No ClinGen
TOPMed
gnomAD
rs1290727204
CA380617775
149 H>R No ClinGen
TOPMed
RCV000971057
rs542817355
150 K>missing No ClinVar
dbSNP
CA6027055
rs750463480
151 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA380617759
rs750463480
151 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA380617761
rs1485268895
151 V>I No ClinGen
TOPMed
rs142523235
CA6027054
152 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 154 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6027052
rs754138332
155 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA6027050
rs761163934
159 A>P No ClinGen
ExAC
gnomAD
CA380617711
rs1430445362
159 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6027048
rs376767392
160 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380617699
rs1275550027
162 N>H No ClinGen
TOPMed
gnomAD
CA380617694
rs1197146216
162 N>S No ClinGen
gnomAD
CA380617682
rs1565098277
164 V>A No ClinGen
Ensembl
rs777347417
CA6027044
167 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA6027046
rs772710890
167 F>S No ClinGen
ExAC
gnomAD
CA6027042
rs768406482
169 F>S No ClinGen
ExAC
gnomAD
CA380617644
rs1565098258
170 R>Q No ClinGen
Ensembl
CA380617645
rs1298591078
170 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1452144922
CA380617637
171 D>G No ClinGen
TOPMed
rs1439471564
CA380617641
171 D>Y No ClinGen
gnomAD
rs1395134306
CA380617632
172 T>A No ClinGen
gnomAD
CA380617628
rs1327769075
172 T>I No ClinGen
gnomAD
CA222808255
rs769718905
174 S>A No ClinGen
Ensembl
CA380617618
rs1310206144
174 S>W No ClinGen
TOPMed
CA6027041
rs746868690
175 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1463700031
CA380617605
177 D>H No ClinGen
TOPMed
gnomAD
rs1376083041
CA380617596
178 G>R No ClinGen
gnomAD
CA380617592
rs560069216
179 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA222808254
rs560069216
179 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs560069216
CA6027040
179 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758293056
CA6027039
181 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6027038
rs745827224
182 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs540395712
CA6027037
182 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA599793430
rs1438630116
183 Y>* No ClinGen
gnomAD
rs757463710
CA6027036
183 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs374186483
CA6027035
183 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6027034
rs764479126
184 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs886376440
CA222808253
185 N>K No ClinGen
TOPMed
CA6027033
rs756534607
185 N>Y No ClinGen
ExAC
gnomAD
rs916305901
CA222808252
186 V>A No ClinGen
gnomAD
CA6027032
rs753053259
187 L>P No ClinGen
ExAC
gnomAD
rs1334999027
CA380617522
188 L>P No ClinGen
gnomAD
CA380617510
rs1407964527
189 L>P No ClinGen
TOPMed
CA380617489
rs760047266
CA6027030
190 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1411406615
CA380617493
190 N>S No ClinGen
gnomAD
rs774740653
CA6027029
191 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs774740653
CA380617473
191 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1173182171
CA380617479
191 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs761350678
CA6027027
192 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1439650279
CA380617443
193 P>H No ClinGen
gnomAD
CA380617424
rs1233928252
194 D>E No ClinGen
gnomAD
CA380617414
rs1184436768
195 R>C No ClinGen
gnomAD
rs1440994969
CA380617411
195 R>H No ClinGen
gnomAD
CA380617402
rs1253714262
196 D>N No ClinGen
gnomAD
CA6027026
rs371086118
198 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768351350
CA6027025
199 C>G No ClinGen
ExAC
rs1281813783
CA380617351
199 C>Y No ClinGen
gnomAD
CA380617337
rs746672454
200 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs746672454
CA6027024
200 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs1444204137
CA380617307
201 S>L No ClinGen
TOPMed
rs775318917
CA6027023
202 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380617292
rs1444122926
203 Q>* No ClinGen
gnomAD
CA6027020
rs2467642
VAR_063131
204 V>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2467642
CA380617271
204 V>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6027021
rs745798810
204 V>L No ClinGen
ExAC
gnomAD
rs1296459878
CA380617269
205 A>T No ClinGen
TOPMed
gnomAD
rs749437828
CA6027018
205 A>V No ClinGen
ExAC
gnomAD
rs1222315528
CA380617256
207 A>G No ClinGen
TOPMed
CA6027012
rs755345035
208 V>I No ClinGen
ExAC
gnomAD
rs1308877342
CA380617248
209 S>R No ClinGen
TOPMed
rs1213827593
CA380617232
211 F>I No ClinGen
gnomAD
CA380617217
rs1267311587
213 L>R No ClinGen
TOPMed
CA380617197
rs1225386546
216 L>P No ClinGen
gnomAD
CA380617184
rs1421994075
218 P>L No ClinGen
TOPMed
CA6027010
rs766860087
219 L>P No ClinGen
ExAC
gnomAD
rs761295583
CA6027009
221 I>T No ClinGen
ExAC
gnomAD
CA380617160
rs1430177739
223 A>T No ClinGen
gnomAD
rs753283471
CA6027008
225 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1166139910
CA380617129
227 A>G No ClinGen
TOPMed
gnomAD
TCGA novel 227 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380617125
rs1419586482
228 A>S No ClinGen
gnomAD
CA380617120
rs763629755
229 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6027007
rs763629755
229 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1565098107
CA380617116
230 S>R No ClinGen
Ensembl
CA6027006
rs760275552
232 R>L No ClinGen
ExAC
gnomAD
rs1217253964
CA380617090
234 Q>* No ClinGen
gnomAD
rs1449827211
CA380617088
234 Q>R No ClinGen
gnomAD
CA222808243
rs945630948
235 H>N No ClinGen
TOPMed
gnomAD
CA6027005
rs775057256
236 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs771871405
CA6027004
236 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1276617126
CA380617072
237 G>R No ClinGen
gnomAD
rs1276617126
CA380617073
237 G>S No ClinGen
gnomAD
CA380617062
rs1362808311
238 R>H No ClinGen
gnomAD
CA380617067
rs1214175493
238 R>S No ClinGen
gnomAD
CA380617059
rs774333725
239 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1208718
CA6027002
rs774333725
239 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA222808242
rs914134006
240 R>Q No ClinGen
TOPMed
gnomAD
rs1434343794
CA380617056
240 R>W No ClinGen
gnomAD
CA6027001
rs770935570
242 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA6027000
rs749242968
243 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA380617041
rs749242968
243 R>G No ClinGen
ExAC
gnomAD
CA380617040
rs1290306509
243 R>H No ClinGen
TOPMed
CA6026999
rs770014924
246 R>C No ClinGen
ExAC
gnomAD
CA6026998
rs770014924
246 R>G No ClinGen
ExAC
gnomAD
CA380617015
rs1409036697
247 L>R No ClinGen
TOPMed
gnomAD
CA380617012
rs1470677791
248 V>L No ClinGen
TOPMed
gnomAD
CA380616994
rs1590578493
251 V>A No ClinGen
Ensembl
CA6026996
rs781308596
251 V>I No ClinGen
ExAC
gnomAD
rs755364144
CA6026995
254 A>D No ClinGen
ExAC
gnomAD
CA222808230
rs979811922
255 F>L No ClinGen
TOPMed
gnomAD
rs1255896071
CA380616695
256 A>T No ClinGen
gnomAD
rs970239250
CA222808228
256 A>V No ClinGen
TOPMed
gnomAD
rs1275297676
CA380616675
257 L>P No ClinGen
gnomAD
CA380616681
rs1308332947
257 L>V No ClinGen
gnomAD
rs1283427410
CA380616672
258 C>S No ClinGen
TOPMed
gnomAD
CA380616646
rs1217558920
259 W>* No ClinGen
gnomAD
rs1224137156
CA380616649
259 W>S No ClinGen
gnomAD
TCGA novel 262 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758867069
CA6026992
264 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA380616583
rs758867069
264 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs985005190
CA380616522
268 L>P No ClinGen
TOPMed
rs985005190
CA222808221
268 L>R No ClinGen
TOPMed
rs1443303307
CA380616487
271 R>G No ClinGen
gnomAD
CA380616481
rs575311239
271 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA380616483
rs575311239
271 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs575311239
CA6026990
271 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1565098020
CA380616474
272 A>E No ClinGen
Ensembl
CA380616476
rs1590578403
272 A>S No ClinGen
Ensembl
rs1393922316
CA380616452
274 A>T No ClinGen
gnomAD
CA6026988
rs760146329
275 N>K No ClinGen
ExAC
gnomAD
rs763575164
CA380616432
275 N>S No ClinGen
ExAC
gnomAD
CA6026989
rs763575164
275 N>T No ClinGen
ExAC
gnomAD
CA380616415
rs1248276867
276 P>L No ClinGen
gnomAD
rs1234869101
CA380616405
277 G>E No ClinGen
gnomAD
CA380616412
rs1480802580
277 G>R No ClinGen
TOPMed
gnomAD
CA6026986
rs767136063
279 R>Q No ClinGen
ExAC
gnomAD
rs1281097090
CA380616374
280 P>L No ClinGen
gnomAD
RCV000923710
CA380616366
rs1236541796
281 L>F No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs773952294
CA6026984
283 W>* No ClinGen
ExAC
gnomAD
CA380616338
rs1352162656
283 W>* No ClinGen
TOPMed
gnomAD
rs1446644693
CA380616326
284 R>C No ClinGen
TOPMed
CA222808209
rs966032658
284 R>H No ClinGen
TOPMed
gnomAD
rs1382548962
CA380616318
285 G>R No ClinGen
TOPMed
gnomAD
rs770880210
CA6026983
286 L>M No ClinGen
ExAC
rs1444878399
CA380616292
287 P>L No ClinGen
Ensembl
rs762934437
CA6026981
288 F>L No ClinGen
ExAC
TOPMed
CA380616274
rs1299567960
289 V>I No ClinGen
TOPMed
gnomAD
rs1299567960
CA380616272
289 V>L No ClinGen
TOPMed
gnomAD
rs1312990492
CA380616221
293 A>T No ClinGen
TOPMed
gnomAD
rs1435967594
COSM397949
CA380616209
294 F>L lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA380616203
rs1362006501
294 F>S No ClinGen
TOPMed
gnomAD
rs769961680
CA380616155
297 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6026979
rs769961680
297 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs748240414
CA6026978
298 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA222808199
rs1017653624
298 V>M No ClinGen
TOPMed
CA222808196
rs867031959
299 A>T No ClinGen
TOPMed
gnomAD
CA6026977
rs776896074
299 A>V No ClinGen
ExAC
gnomAD
CA380616107
rs1258413807
301 P>A No ClinGen
TOPMed
gnomAD
CA380616105
rs1258413807
301 P>S No ClinGen
TOPMed
gnomAD
CA380616109
rs1258413807
301 P>T No ClinGen
TOPMed
gnomAD
rs1216395493
CA380616088
302 V>A No ClinGen
TOPMed
gnomAD
rs1216395493
CA380616086
302 V>G No ClinGen
TOPMed
gnomAD
rs1260724622
CA380616071
304 Y>H No ClinGen
TOPMed
gnomAD
CA222808191
rs768698494
305 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6026976
rs768698494
305 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs747256636
CA6026975
306 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA6026974
rs41459145
308 C>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1293465766
CA380615988
310 D>E No ClinGen
TOPMed
gnomAD
CA222808183
rs12807053
310 D>G No ClinGen
Ensembl
rs1157529005
CA380616000
310 D>N No ClinGen
TOPMed
rs12807051
CA222808181
311 M>L No ClinGen
gnomAD
CA380615984
rs12807051
311 M>V No ClinGen
gnomAD
TCGA novel 312 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6026972
rs371953294
313 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA222808176
rs779466222
314 K>N No ClinGen
ExAC
gnomAD
CA222808174
rs892644625
315 L>P No ClinGen
TOPMed
gnomAD
rs755638586
CA380615916
316 R>P No ClinGen
ExAC
gnomAD
rs755638586
CA6026970
316 R>Q No ClinGen
ExAC
gnomAD
CA380615920
rs1302867940
316 R>W No ClinGen
TOPMed
gnomAD
CA6026969
rs368130260
317 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6026968
rs767058222
317 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1334551229
CA380615900
318 S>T No ClinGen
TOPMed
TCGA novel 320 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1325774893
CA380615858
321 T>M No ClinGen
TOPMed
CA380615855
rs1190331332
322 V>M No ClinGen
gnomAD
CA222808168
rs939638183
324 E>G No ClinGen
TOPMed
TCGA novel 324 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6026966
rs751278829
325 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1181398425
CA380615793
326 V>G No ClinGen
TOPMed
rs1044475989
CA222808162
326 V>M No ClinGen
TOPMed
gnomAD
rs762879192
CA6026964
327 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA380615786
rs1481134746
327 L>P No ClinGen
TOPMed
rs1401107499
CA380615775
328 V>A No ClinGen
gnomAD
rs1428238084
CA380615754
329 D>E No ClinGen
TOPMed
CA380615750
rs1335893919
330 D>H No ClinGen
TOPMed
gnomAD
rs1335893919
CA380615748
330 D>Y No ClinGen
TOPMed
gnomAD
rs773277258
CA380615718
332 E>* No ClinGen
ExAC
gnomAD
rs773277258
CA6026963
332 E>Q No ClinGen
ExAC
gnomAD
rs1169243737
CA380615706
333 L>M No ClinGen
TOPMed
rs1246490105
CA380615702
333 L>P No ClinGen
TOPMed
gnomAD
rs1246490105
CA380615701
333 L>Q No ClinGen
TOPMed
gnomAD
rs983635490
CA380615690
334 G>A No ClinGen
TOPMed
gnomAD
rs983635490
CA222808156
334 G>D No ClinGen
TOPMed
gnomAD
rs1294257752
CA380615654
337 G>E No ClinGen
TOPMed
gnomAD
CA222808152
rs984564590
337 G>R No ClinGen
TOPMed
rs765142335
CA6026962
339 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA380615634
rs1249791017
339 S>R No ClinGen
TOPMed
rs1030605096
CA222808148
340 R>C No ClinGen
Ensembl
CA6026961
rs761821276
340 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs776503511
CA6026960
341 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs776503511
CA222808145
341 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 342 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6026959
rs374184117
342 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA380615624
rs1394906734
342 R>S No ClinGen
TOPMed
gnomAD
CA6026958
rs747181485
343 R>C No ClinGen
ExAC
gnomAD
rs747181485
CA380615618
343 R>S No ClinGen
ExAC
gnomAD
rs571515921
CA6026954
346 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA380615568
rs1193552946
349 R>G No ClinGen
TOPMed
gnomAD
CA222808144
rs1011668064
352 S>P No ClinGen
TOPMed
CA380615520
rs1194385684
353 P>T No ClinGen
gnomAD
CA222808142
rs1017599685
354 L>S No ClinGen
TOPMed
CA222808140
rs1007949943
355 A>G No ClinGen
TOPMed
rs753507290
CA222808141
355 A>P No ClinGen
TOPMed
gnomAD
CA380615483
rs1227594925
356 L>F No ClinGen
gnomAD
rs1383938130
CA380615433
360 P>A No ClinGen
TOPMed
rs1293712891
CA380615413
361 E>G No ClinGen
TOPMed
CA380615382
rs1440054560
363 P>R No ClinGen
TOPMed
gnomAD
CA380615364
rs1590577870
365 G>S No ClinGen
Ensembl
rs780518762
CA6026949
368 R>C No ClinGen
ExAC
gnomAD
rs1396056866
CA380615322
368 R>L No ClinGen
gnomAD
CA222808135
rs1009657951
371 G>D No ClinGen
TOPMed
CA6026948
rs754566001
371 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs751223841
CA6026947
373 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs751223841
CA380615265
373 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA222808131
rs1003730997
384 G>D No ClinGen
TOPMed
CA380615124
rs1590577787
387 N>I No ClinGen
Ensembl
CA380615123
rs1164709984
387 N>K No ClinGen
TOPMed
CA380615121
rs1046341416
388 R>G No ClinGen
gnomAD
CA222808128
rs1046341416
388 R>W No ClinGen
gnomAD
CA222808125
rs199514968
392 S>R No ClinGen
gnomAD
CA380615088
rs1287180867
393 T>I No ClinGen
TOPMed
rs1249466813
CA380615082
394 S>* No ClinGen
gnomAD
CA222808123
rs949045758
395 S>T No ClinGen
TOPMed
gnomAD

No associated diseases with Q9Y5Y4

2 regional properties for Q9Y5Y4

Type Name Position InterPro Accession
domain Activity-regulated cytoskeleton-associated protein, C-terminal domain 274 - 356 IPR040814
domain Activity-regulated cytoskeleton-associated protein, N-terminal domain 45 - 151 IPR045557

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Internalized receptors colocalized with RAB11A
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
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.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name Definition
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
neuropeptide binding Interacting selectively and non-covalently and stoichiometrically with neuropeptides, peptides with direct synaptic effects (peptide neurotransmitters) or indirect modulatory effects on the nervous system (peptide neuromodulators).
peptide binding Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds.
prostaglandin D receptor activity Combining with prostaglandin D (PGD(2)) to initiate a change in cell activity.
prostaglandin F receptor activity Combining with prostaglandin F (PGF (2-alpha)) to initiate a change in cell activity.
prostaglandin J receptor activity Combining with prostaglandin J (PGJ(2)), a metabolite of prostaglandin D (PGD(2)) to initiate a change in cell activity.

8 GO annotations of biological process

Name Definition
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP).
calcium-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
negative regulation of male germ cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of male germ cell proliferation.
neuropeptide signaling pathway A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.
positive regulation of G protein-coupled receptor signaling pathway Any process that activates or increases the frequency, rate or extent of G protein-coupled receptor signaling pathway activity.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P46091 CMKLR2 Chemerin-like receptor 2 Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
Q9Z2J6 Ptgdr2 Prostaglandin D2 receptor 2 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSANATLKPL CPILEQMSRL QSHSNTSIRY IDHAAVLLHG LASLLGLVEN GVILFVVGCR
70 80 90 100 110 120
MRQTVVTTWV LHLALSDLLA SASLPFFTYF LAVGHSWELG TTFCKLHSSI FFLNMFASGF
130 140 150 160 170 180
LLSAISLDRC LQVVRPVWAQ NHRTVAAAHK VCLVLWALAV LNTVPYFVFR DTISRLDGRI
190 200 210 220 230 240
MCYYNVLLLN PGPDRDATCN SRQVALAVSK FLLAFLVPLA IIASSHAAVS LRLQHRGRRR
250 260 270 280 290 300
PGRFVRLVAA VVAAFALCWG PYHVFSLLEA RAHANPGLRP LVWRGLPFVT SLAFFNSVAN
310 320 330 340 350 360
PVLYVLTCPD MLRKLRRSLR TVLESVLVDD SELGGAGSSR RRRTSSTARS ASPLALCSRP
370 380 390
EEPRGPARLL GWLLGSCAAS PQTGPLNRAL SSTSS