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 Q7Z2H8

Entry ID Method Resolution Chain Position Source
AF-Q7Z2H8-F1 Predicted AlphaFoldDB

363 variants for Q7Z2H8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs947195633
CA129919896
3 T>M No ClinGen
TOPMed
gnomAD
CA129919907
rs199948845
7 R>Q No ClinGen
1000Genomes
CA3519073
rs761378542
7 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3519074
rs764750192
8 N>D No ClinGen
ExAC
gnomAD
rs770381906
CA129919909
9 E>K No ClinGen
Ensembl
CA129919911
rs895938306
10 D>G No ClinGen
Ensembl
rs1383273942
CA361806328
11 Y>* No ClinGen
gnomAD
rs1013817247
CA129919913
11 Y>H No ClinGen
gnomAD
rs776161656
CA129919918
12 H>L No ClinGen
Ensembl
rs1454373627
CA361806332
12 H>Y No ClinGen
gnomAD
CA3519076
rs763518368
13 D>N No ClinGen
ExAC
gnomAD
rs1581104165
CA361806350
13 D>V No ClinGen
Ensembl
rs759162243
CA3519077
14 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs751951454
CA3519078
15 S>G No ClinGen
ExAC
gnomAD
rs1197644667
CA361806376
15 S>I No ClinGen
gnomAD
rs367921434
CA3519079
17 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 19 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752896616
CA3519081
19 V>M No ClinGen
ExAC
gnomAD
CA361806443
rs1476038565
20 S>G No ClinGen
gnomAD
rs777859729
CA361806463
21 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs777859729
CA3519083
21 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs749397330
CA3519084
22 E>Q No ClinGen
ExAC
gnomAD
rs1470862347
CA361806492
23 E>K No ClinGen
gnomAD
rs780012452
CA3519086
24 S>R No ClinGen
ExAC
gnomAD
CA3519087
rs150947305
25 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775913829
CA3519090
26 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1271803683
CA361806542
26 S>P No ClinGen
gnomAD
CA361806586
rs759011972
28 G>A No ClinGen
TOPMed
CA129919981
rs759011972
28 G>D No ClinGen
TOPMed
TCGA novel 29 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762602455
CA3519093
30 N>K No ClinGen
ExAC
gnomAD
rs766981755
CA3519094
31 N>S No ClinGen
ExAC
gnomAD
rs1396419784
CA361806663
33 S>C No ClinGen
TOPMed
gnomAD
CA361806666
rs1396419784
33 S>F No ClinGen
TOPMed
gnomAD
rs752180488
CA361806675
34 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs752180488
CA3519095
34 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs767863955
CA3519097
35 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs767863955
CA361806683
35 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA3519096
rs759964143
35 P>T No ClinGen
ExAC
gnomAD
CA361806717
rs1315258803
37 S>F No ClinGen
gnomAD
CA3519099
rs756320184
37 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA3519100
rs778006483
38 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs753888746
CA3519101
39 Q>* No ClinGen
ExAC
gnomAD
rs147768311
CA3519102
40 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA129920039
rs898559171
40 R>H No ClinGen
TOPMed
gnomAD
rs746909017
CA3519104
44 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA361806831
rs1401064699
44 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
CA361806850
rs754898078
45 N>D No ClinGen
ExAC
gnomAD
rs754898078
CA3519105
45 N>H No ClinGen
ExAC
gnomAD
CA3519107
rs747938024
45 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA3519106
rs527734301
45 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs769466345
CA3519108
46 S>I No ClinGen
ExAC
gnomAD
CA3519110
rs748805023
48 T>A No ClinGen
ExAC
gnomAD
rs141158515
CA3519111
48 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758794849
CA3519138
49 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA129922862
rs1028439777
52 T>N No ClinGen
Ensembl
rs1485209103
CA361807246
53 L>F No ClinGen
gnomAD
TCGA novel 53 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 65 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs987289099
CA129922881
66 L>P No ClinGen
Ensembl
CA361807334
rs1396542672
67 G>* No ClinGen
gnomAD
rs765483787
CA3519141
68 L>R No ClinGen
ExAC
gnomAD
rs1328799561
CA361807359
71 A>V No ClinGen
TOPMed
gnomAD
rs758468876
CA3519143
74 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1198811648
CA361807388
74 N>T No ClinGen
TOPMed
rs767489274
CA3519144
75 A>E No ClinGen
ExAC
gnomAD
TCGA novel 76 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3519147
rs138099002
78 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138099002
CA3519148
78 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361807552
rs1205764923
81 P>A No ClinGen
gnomAD
rs1482121272
CA361807630
86 I>F No ClinGen
gnomAD
CA361807647
rs1258878488
87 I>V No ClinGen
TOPMed
CA361807680
rs1210931563
89 I>F No ClinGen
TOPMed
rs1429821555
CA361807697
90 V>M No ClinGen
gnomAD
COSM1064553
CA3519164
rs751679172
92 V>M endometrium Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs559992478
CA3519165
93 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA3519167
rs143136105
95 M>V No ClinGen
ESP
ExAC
gnomAD
COSM1542660
CA361807793
rs1581131232
96 G>C lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs757175932
CA3519168
99 V>L No ClinGen
ExAC
gnomAD
CA129923414
rs371168502
102 A>V No ClinGen
ESP
TOPMed
gnomAD
rs372983002
CA3519170
103 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148259317
CA3519171
104 H>R No ClinGen
ESP
ExAC
TOPMed
CA3519172
COSM3429165
rs142033033
107 R>C large_intestine Variant assessed as Somatic; 4.63e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3519173
rs142033033
107 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769130622
CA3519174
107 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs769130622
CA361807937
107 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs146342711
CA3519198
109 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 111 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1223090150
CA361808027
112 S>P No ClinGen
gnomAD
TCGA novel 115 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1581133344
CA361808087
117 G>D No ClinGen
Ensembl
rs774767678
CA3519202
118 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA361808106
rs1267492653
119 T>A No ClinGen
TOPMed
gnomAD
rs1253118000
CA361808113
120 V>M No ClinGen
gnomAD
CA361808134
rs1433597774
121 M>I No ClinGen
TOPMed
rs1438207012
CA361808140
122 Y>H No ClinGen
gnomAD
CA3519204
rs772211010
129 C>R No ClinGen
ExAC
gnomAD
rs201820090
CA129923796
131 W>C No ClinGen
TOPMed
CA361808247
rs568011225
132 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs530045251
CA3519206
132 L>H No ClinGen
1000Genomes
ExAC
gnomAD
rs568011225
CA3519205
132 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs375805253
CA3519209
133 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769924388
CA3519208
133 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1160358724
CA361808266
134 N>S No ClinGen
TOPMed
gnomAD
rs765944390
CA3519210
135 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA3519212
COSM420825
rs201241765
136 A>T lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA129923851
rs947498713
136 A>V No ClinGen
Ensembl
rs1339051691
CA361808301
137 H>Q No ClinGen
TOPMed
rs1395385062
CA361808323
139 G>E No ClinGen
Ensembl
rs1287169688
CA361808327
140 R>G No ClinGen
gnomAD
rs35204299
CA3519231
RCV000881290
141 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs35204299
CA3519232
141 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA361808749
rs1264142918
141 R>H No ClinGen
TOPMed
gnomAD
rs35204299
CA3519233
141 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752123680
CA3519234
142 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1208716813
CA361808774
143 V>M No ClinGen
gnomAD
rs760286242
CA3519235
144 D>N No ClinGen
ExAC
gnomAD
CA361808787
rs760286242
144 D>Y No ClinGen
ExAC
gnomAD
rs1211287889
CA361808856
149 V>I No ClinGen
TOPMed
gnomAD
rs183398364
CA3519237
150 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200612963
CA129925155
151 Q>H No ClinGen
TOPMed
gnomAD
rs1387348653
CA361808924
154 F>I No ClinGen
TOPMed
TCGA novel 162 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3519239
rs757717990
162 L>P No ClinGen
ExAC
gnomAD
CA361809049
rs1429809706
162 L>V No ClinGen
gnomAD
rs755546492
CA3519238
164 D>G No ClinGen
ExAC
gnomAD
rs758673415
CA3519242
165 N>S No ClinGen
ExAC
gnomAD
CA3519243
rs780483564
168 Q>K No ClinGen
ExAC
gnomAD
rs149813162
CA3519299
169 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1163360574
CA361809308
169 V>M No ClinGen
gnomAD
CA3519300
rs766720871
170 I>M No ClinGen
ExAC
gnomAD
CA129925630
rs943359511
172 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs367905880
CA3519302
173 A>S No ClinGen
ESP
ExAC
gnomAD
CA361809343
rs144783326
174 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs560753255
CA3519303
174 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1247295702
CA361809347
175 G>E No ClinGen
gnomAD
rs1235107687
CA361809351
176 T>A No ClinGen
gnomAD
CA361809350
rs1235107687
176 T>P No ClinGen
gnomAD
rs1308937138
CA361809359
177 T>N No ClinGen
TOPMed
CA361809371
rs1240239656
179 N>D No ClinGen
TOPMed
CA3519305
rs756251690
180 C>R No ClinGen
ExAC
gnomAD
CA361809389
rs1354262892
181 H>R No ClinGen
gnomAD
TCGA novel 182 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA361809405
rs1273974135
183 N>S No ClinGen
gnomAD
rs933415871
CA129925646
185 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs140124579
CA3519309
187 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758354539
CA3519310
188 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA3519311
rs368459683
189 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361809451
rs1471516599
191 T>A No ClinGen
TOPMed
gnomAD
rs907426542
CA129925682
191 T>I No ClinGen
TOPMed
rs1162325109
CA361809456
192 M>V No ClinGen
TOPMed
gnomAD
CA3519313
rs546760067
193 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA3519314
rs571362914
194 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1561757835
CA361809477
195 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs538839843
CA3519316
195 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA361809491
rs1338842181
197 Y>C No ClinGen
gnomAD
rs893073741
CA129925710
198 M>I No ClinGen
gnomAD
CA129925700
rs202198969
198 M>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA3519318
rs772875552
200 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA361809510
rs772875552
200 S>Y No ClinGen
ExAC
gnomAD
rs1281947647
CA361809512
201 F>I No ClinGen
Ensembl
rs1441368786
CA361809530
203 P>L No ClinGen
gnomAD
CA3519319
rs763518344
204 F>C No ClinGen
ExAC
gnomAD
rs1206024484
CA361809554
208 L>M No ClinGen
TOPMed
TCGA novel 210 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA361809579
rs759872480
211 I>M No ClinGen
ExAC
gnomAD
CA361809592
rs1258142974
213 N>K No ClinGen
gnomAD
CA3519323
rs569154417
213 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA361809590
rs569154417
213 N>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1012561541
CA129925747
214 L>V No ClinGen
TOPMed
gnomAD
rs752846011
CA3519324
215 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs752846011
CA361809599
215 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs371431768
CA3519326
215 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371431768
CA3519325
215 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA361809617
rs1478599255
218 S>F No ClinGen
gnomAD
rs367661783
CA3519328
219 I>T No ClinGen
ESP
ExAC
gnomAD
rs753950310
CA3519327
219 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA3519329
rs371466684
221 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367893924
CA3519330
222 L>P No ClinGen
ESP
ExAC
gnomAD
CA3519331
rs754665195
225 N>S No ClinGen
ExAC
gnomAD
CA3519333
rs747755817
227 T>N No ClinGen
ExAC
gnomAD
CA3519334
rs769605007
228 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA361809732
rs1429934994
230 V>I No ClinGen
TOPMed
TCGA novel 231 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 232 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1306772621
CA361809773
233 V>G No ClinGen
gnomAD
CA361809789
rs1257489546
CA361809787
234 M>I No ClinGen
gnomAD
rs1233675249
CA361809778
234 M>V No ClinGen
gnomAD
CA361809811
rs1476886279
236 Y>C No ClinGen
TOPMed
CA129925815
rs765283313
237 Q>* No ClinGen
Ensembl
CA361809841
rs1199738809
238 F>L No ClinGen
gnomAD
CA3519336
rs748858498
239 I>T No ClinGen
ExAC
rs1263286231
CA361809857
240 V>I No ClinGen
TOPMed
gnomAD
rs771458520
CA3519337
241 Q>K No ClinGen
ExAC
gnomAD
rs1310201712
CA361810469
242 R>K No ClinGen
gnomAD
rs1368952078
CA361810476
243 I>F No ClinGen
TOPMed
TCGA novel 245 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA129931985
rs916160321
249 L>F No ClinGen
TOPMed
CA361810526
rs1456706991
250 P>R No ClinGen
gnomAD
rs765183392
CA3519373
250 P>S No ClinGen
ExAC
gnomAD
CA129931997
rs971397003
251 L>S No ClinGen
Ensembl
rs1350595918
CA361810528
251 L>V No ClinGen
gnomAD
CA361810578
rs1413119052
258 Y>C No ClinGen
gnomAD
rs981851397
CA129932022
259 P>L No ClinGen
Ensembl
TCGA novel 261 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3519379
rs756043156
264 T>I No ClinGen
ExAC
gnomAD
rs777711037
CA361810624
265 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs777711037
CA3519380
265 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1300570915
CA361810643
268 S>* No ClinGen
gnomAD
rs756954823
CA3519383
271 G>D No ClinGen
ExAC
gnomAD
rs1279690971
CA361810676
273 G>R No ClinGen
gnomAD
CA3519385
rs199519900
274 M>L No ClinGen
1000Genomes
ExAC
gnomAD
rs200362673
CA3519387
274 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA3519386
rs199519900
274 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA129933605
rs868295961
275 V>I No ClinGen
Ensembl
TCGA novel 279 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369178329
CA3519405
284 D>A No ClinGen
ESP
ExAC
gnomAD
rs369178329
CA3519406
284 D>G No ClinGen
ESP
ExAC
gnomAD
CA361810767
rs1191707614
285 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3519408
rs781382215
286 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3519407
rs755511746
286 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA361810797
rs1159961645
290 L>V No ClinGen
gnomAD
CA3519413
rs771072619
295 G>S No ClinGen
ExAC
gnomAD
rs774591605
CA3519414
295 G>V No ClinGen
ExAC
gnomAD
rs776266406
CA3519417
296 M>I No ClinGen
ExAC
gnomAD
CA3519416
rs769881015
296 M>T No ClinGen
ExAC
gnomAD
rs760646759
CA3519415
296 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs764792234
CA3519419
299 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1292253473
CA361810860
300 T>I No ClinGen
gnomAD
rs1210732236
CA361810855
300 T>P No ClinGen
gnomAD
rs750034329
CA3519420
301 I>V No ClinGen
ExAC
gnomAD
rs1252100703
CA361810869
302 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3519421
rs199656226
302 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA129933717
rs751111599
304 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs751111599
CA3519423
304 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA129933730
rs868368861
305 S>C No ClinGen
Ensembl
CA361810892
rs755458787
306 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1243337568
CA361810897
307 G>R No ClinGen
TOPMed
CA129933811
rs898801387
313 Q>K No ClinGen
Ensembl
CA361810943
rs1449723934
314 F>L No ClinGen
gnomAD
CA361810947
rs1329901405
314 F>S No ClinGen
gnomAD
rs374804438
CA3519430
315 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1245578463
CA361810955
COSM482369
316 A>T kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA361810979
rs1354542278
319 Q>* No ClinGen
gnomAD
TCGA novel 320 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367785938
CA3519432
320 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3519434
rs779101845
324 L>F No ClinGen
ExAC
gnomAD
CA361811118
rs1161812132
328 N>K No ClinGen
TOPMed
rs1200528477
CA361811113
328 N>S No ClinGen
gnomAD
CA3519435
rs745991814
329 C>F No ClinGen
ExAC
gnomAD
CA361811670
rs1581199302
331 L>V No ClinGen
Ensembl
rs1259751112
CA361811684
332 Y>C No ClinGen
TOPMed
gnomAD
rs1275198191
CA361811681
332 Y>H No ClinGen
gnomAD
CA3519481
rs140884226
333 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140884226
CA3519480
333 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA361811767
rs1328427638
341 I>V No ClinGen
TOPMed
CA361811788
rs1382315060
342 G>E No ClinGen
gnomAD
TCGA novel 344 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777210168
CA3519488
344 F>V No ClinGen
ExAC
gnomAD
CA129935583
rs1025112273
345 F>I No ClinGen
TOPMed
gnomAD
CA3519490
rs150177899
347 Y>C No ClinGen
ESP
ExAC
gnomAD
rs758625230
COSM1435295
CA3519492
348 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1179418860
CA361811864
348 A>V No ClinGen
gnomAD
COSM3697079
rs781266508
CA3519496
353 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA361811925
rs1463450267
354 P>A No ClinGen
TOPMed
rs140356275
CA3519497
COSM482370
354 P>L kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3519500
rs745696164
358 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1352951030
CA361811971
358 I>V No ClinGen
TOPMed
rs1561778540
CA361812000
360 P>L No ClinGen
Ensembl
CA3519501
rs771740212
360 P>S No ClinGen
ExAC
gnomAD
rs775069582
CA3519502
361 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs775069582
CA361812007
361 F>S No ClinGen
ExAC
TOPMed
gnomAD
VAR_048122
rs9687945
RCV000956330
CA3519504
362 F>L No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs964285577
CA129935647
363 V>G No ClinGen
Ensembl
rs1425795492
CA361812043
365 R>* No ClinGen
gnomAD
rs555693703
COSM1542658
CA129935685
365 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3519507
rs555693703
365 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA129935690
rs946051880
366 A>V No ClinGen
TOPMed
gnomAD
CA3519509
rs763295771
367 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs751677534
CA361812065
368 E>* No ClinGen
ExAC
gnomAD
CA3519511
rs751677534
368 E>K No ClinGen
ExAC
gnomAD
rs751677534
CA361812064
368 E>Q No ClinGen
ExAC
gnomAD
CA129935704
rs936486159
369 H>R No ClinGen
Ensembl
CA361812091
rs1439884087
370 C>G No ClinGen
gnomAD
rs1439884087
CA361812090
370 C>R No ClinGen
gnomAD
CA361812103
rs1241389600
371 E>Q No ClinGen
TOPMed
CA3519514
rs759780785
373 V>M No ClinGen
ExAC
gnomAD
rs895023814
CA129935736
374 V>G No ClinGen
Ensembl
TCGA novel 374 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1053544056
CA129935734
374 V>M No ClinGen
Ensembl
CA361812150
rs1379193602
375 D>E No ClinGen
TOPMed
gnomAD
rs376550410
CA3519516
379 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3519518
rs183131678
379 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs183131678
CA3519517
379 R>L Variant assessed as Somatic; 0.0001849 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372327626
CA3519523
385 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780827104
CA3519524
386 T>A No ClinGen
ExAC
gnomAD
rs754665585
CA3519541
389 L>V No ClinGen
ExAC
gnomAD
rs781059910
CA3519542
391 I>N No ClinGen
ExAC
gnomAD
rs950588284
CA129941119
392 L>F No ClinGen
TOPMed
rs983734096
CA361813174
393 I>F No ClinGen
TOPMed
gnomAD
CA129941123
rs983734096
393 I>L No ClinGen
TOPMed
gnomAD
rs747809212
CA3519543
393 I>M No ClinGen
ExAC
gnomAD
rs1280711708
CA361813186
394 P>L No ClinGen
TOPMed
CA3519544
rs191784469
395 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3519545
rs191784469
395 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749715139
CA3519546
395 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3519547
rs749715139
395 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3519548
rs774560779
396 L>M No ClinGen
ExAC
gnomAD
rs775625105
CA3519551
404 G>A No ClinGen
ExAC
gnomAD
CA361813292
rs569783367
406 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569783367
CA3519554
406 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3519555
rs764032139
409 S>G No ClinGen
ExAC
gnomAD
CA361813317
rs1229043860
409 S>N No ClinGen
TOPMed
gnomAD
rs891256866
CA129941192
410 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA129941208
rs890762873
412 A>V No ClinGen
Ensembl
CA3519557
rs762767916
413 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs762767916
CA3519558
413 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs762767916
CA361813337
413 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1007836542
CA129941225
415 I>M No ClinGen
TOPMed
gnomAD
rs1230610500
CA361813359
416 P>L No ClinGen
gnomAD
rs200047726
CA3519560
417 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3519559
rs751395217
417 P>S No ClinGen
ExAC
gnomAD
TCGA novel 418 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752345867
CA3519562
419 L>P No ClinGen
ExAC
gnomAD
CA361813384
rs1277605934
421 V>F No ClinGen
TOPMed
rs755818681
CA3519563
427 E>G No ClinGen
ExAC
gnomAD
CA361813435
rs777113295
429 M>L No ClinGen
ExAC
gnomAD
rs777113295
CA3519564
429 M>V No ClinGen
ExAC
gnomAD
rs1348122798
CA361813444
430 S>G No ClinGen
TOPMed
CA129941254
rs891545261
430 S>T No ClinGen
Ensembl
rs1326946833
CA361813455
431 P>L No ClinGen
gnomAD
rs1326946833
CA361813454
431 P>R No ClinGen
gnomAD
CA3519567
rs779466314
434 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA361813507
rs1325641967
436 K>T No ClinGen
TOPMed
CA129941284
rs1011358441
437 D>A No ClinGen
Ensembl
rs373055649
CA3519569
438 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373055649
CA3519570
438 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA361813561
rs1339999295
441 S>C No ClinGen
gnomAD
rs377676191
CA3519572
442 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3519575
rs200345930
446 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA361813622
rs1187681872
447 G>S No ClinGen
gnomAD
rs1476704602
CA361813682
452 T>I No ClinGen
gnomAD
rs150913271
CA3519578
453 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3519577
rs759566571
453 Y>H No ClinGen
ExAC
gnomAD
CA129941384
rs764971918
455 A>T No ClinGen
Ensembl
CA3519579
rs752576710
455 A>V No ClinGen
ExAC
gnomAD
CA3519580
rs371200731
456 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756722941
CA3519583
457 Y>C No ClinGen
ExAC
gnomAD
rs753286699
CA3519582
457 Y>H No ClinGen
ExAC
gnomAD
CA3519584
rs756722941
457 Y>S No ClinGen
ExAC
gnomAD
CA129941397
rs376351989
460 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA361813772
rs1393621454
460 I>T No ClinGen
gnomAD
CA129941399
rs963271509
461 Q>E No ClinGen
TOPMed
rs1280215271
CA361813829
464 N>K No ClinGen
TOPMed
rs1035953861
CA129941403
464 N>S No ClinGen
Ensembl
CA3519588
rs140057648
470 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA129941408
rs140057648
470 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1581233293
CA361813923
472 T>P No ClinGen
Ensembl
rs1270527689
CA361813941
473 C>Y No ClinGen
TOPMed
CA361813956
rs1209687095
474 A>T No ClinGen
gnomAD
CA3519590
rs776844859
474 A>V No ClinGen
ExAC
gnomAD
CA361813987
rs1220279503
477 I>Q No ClinGen
TOPMed
rs1449065514
CA361813990
477 I>W No ClinGen
TOPMed
gnomAD

No associated diseases with Q7Z2H8

1 regional properties for Q7Z2H8

Type Name Position InterPro Accession
domain Amino acid transporter, transmembrane domain 46 - 454 IPR013057

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Apical cell membrane ; Multi-pass membrane protein
  • Lysosome membrane ; Multi-pass membrane protein
  • In neurons, colocalizes with the exocyst complex in the axonal processes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
integral component of membrane The component of a 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.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

9 GO annotations of molecular function

Name Definition
alanine transmembrane transporter activity Enables the transfer of alanine from one side of a membrane to the other. Alanine is 2-aminopropanoic acid.
amino acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group.
amino acid:proton symporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: amino acid(out) + H+(out) = amino acid(in) + H+(in).
glycine transmembrane transporter activity Enables the transfer of glycine from one side of a membrane to the other. Glycine is aminoethanoic acid.
L-alanine transmembrane transporter activity Enables the transfer of L-alanine from one side of a membrane to the other. L-alanine is the L-enantiomer of 2-aminopropanoic acid.
L-amino acid transmembrane transporter activity Enables the transfer of an L-amino acid from one side of a membrane to the other. L-amino acids are the L-enantiomers of amino acids.
L-proline transmembrane transporter activity Enables the transfer of L-proline from one side of a membrane to the other. L-proline is pyrrolidine-2-carboxylic acid.
proline:proton symporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: proline(out) + H+(out) = proline(in) + H+(in).
taurine transmembrane transporter activity Enables the transfer of taurine from one side of a membrane to the other. Taurine (2-aminoethanesulfonic acid) is a sulphur-containing amino acid derivative which is important in the metabolism of fats.

11 GO annotations of biological process

Name Definition
alanine transport The directed movement of alanine, 2-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
amino acid import across plasma membrane The directed movement of an amino acid from outside of a cell, across the plasma membrane and into the cytosol.
amino acid transmembrane transport The process in which an amino acid is transported across a membrane.
amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
glycine transport The directed movement of glycine, aminoethanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
L-alanine transport The directed movement of L-alanine, the L-enantiomer of 2-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
proline transmembrane transport The directed movement of proline, pyrrolidine-2-carboxylic acid, across a membrane by means of some agent such as a transporter or pore.
proline transport The directed movement of proline, pyrrolidine-2-carboxylic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
proton transmembrane transport The directed movement of a proton across a membrane.
taurine transport The directed movement of taurine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NVC3 SLC38A7 Putative sodium-coupled neutral amino acid transporter 7 Homo sapiens (Human) PR
Q8K4D3 Slc36a1 Proton-coupled amino acid transporter 1 Mus musculus (Mouse) PR
Q924A5 Slc36a1 Proton-coupled amino acid transporter 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSTQRLRNED YHDYSSTDVS PEESPSEGLN NLSSPGSYQR FGQSNSTTWF QTLIHLLKGN
70 80 90 100 110 120
IGTGLLGLPL AVKNAGIVMG PISLLIIGIV AVHCMGILVK CAHHFCRRLN KSFVDYGDTV
130 140 150 160 170 180
MYGLESSPCS WLRNHAHWGR RVVDFFLIVT QLGFCCVYFV FLADNFKQVI EAANGTTNNC
190 200 210 220 230 240
HNNETVILTP TMDSRLYMLS FLPFLVLLVF IRNLRALSIF SLLANITMLV SLVMIYQFIV
250 260 270 280 290 300
QRIPDPSHLP LVAPWKTYPL FFGTAIFSFE GIGMVLPLEN KMKDPRKFPL ILYLGMVIVT
310 320 330 340 350 360
ILYISLGCLG YLQFGANIQG SITLNLPNCW LYQSVKLLYS IGIFFTYALQ FYVPAEIIIP
370 380 390 400 410 420
FFVSRAPEHC ELVVDLFVRT VLVCLTCILA ILIPRLDLVI SLVGSVSSSA LALIIPPLLE
430 440 450 460 470
VTTFYSEGMS PLTIFKDALI SILGFVGFVV GTYEALYELI QPSNAPIFIN STCAFI