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 Q9Y4C2

Entry ID Method Resolution Chain Position Source
AF-Q9Y4C2-F1 Predicted AlphaFoldDB

393 variants for Q9Y4C2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA369910785
rs768803367
2 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA168113760
rs980011806
2 A>S No ClinGen
TOPMed
gnomAD
CA168113765
rs980011806
2 A>T No ClinGen
TOPMed
gnomAD
CA4541052
rs768803367
2 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781242324
CA369910726
6 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs781242324
CA168113758
6 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA4541050
rs781242324
6 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs142533963
CA4541046
9 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4541047
rs373629994
9 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4541048
rs373629994
9 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1371799429
CA369910651
10 A>S No ClinGen
TOPMed
gnomAD
CA4541044
rs764776647
12 M>T No ClinGen
ExAC
TCGA novel 13 N>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4541043
rs188437693
13 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs533811676
CA4541041
16 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4541039
rs773634137
19 D>E No ClinGen
ExAC
gnomAD
CA4541040
rs761032781
19 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs774689603
CA4541037
22 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs774689603
CA4541036
22 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA369910271
rs1410070463
23 D>Y No ClinGen
TOPMed
gnomAD
rs1312788994
CA369910221
25 V>I No ClinGen
TOPMed
CA4541035
rs768894851
26 P>L No ClinGen
ExAC
gnomAD
rs1250889128
CA369910114
29 L>P No ClinGen
gnomAD
rs896907336
CA168113594
30 L>H No ClinGen
Ensembl
CA4541032
rs746854510
32 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA4541031
rs746854510
32 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 33 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535945143
CA4541030
34 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1315136479
CA369909871
40 M>V No ClinGen
gnomAD
CA4541029
rs758106387
43 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA369909803
rs1224805106
43 D>E No ClinGen
gnomAD
CA4541028
rs752434913
44 M>V No ClinGen
ExAC
gnomAD
rs1562962050
CA369909753
47 V>I No ClinGen
Ensembl
CA168113514
rs1005809423
49 I>T No ClinGen
Ensembl
CA4541027
rs778534239
50 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA4541026
rs376558599
51 A>T No ClinGen
ESP
ExAC
gnomAD
rs373516627
CA4541025
51 A>V No ClinGen
ESP
ExAC
gnomAD
CA369909686
rs1428072749
52 S>C No ClinGen
gnomAD
rs1413811365
CA369909668
53 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs750842504
CA4541022
53 S>P No ClinGen
ExAC
gnomAD
CA4541020
rs372298313
54 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774779542
CA4541019
56 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149141329
COSM1448859
CA168113461
56 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs550777960
CA4541017
58 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4541016
rs775716291
58 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA369909597
rs775716291
58 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369909598
rs775716291
58 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs550777960
CA4541018
58 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1586768503
CA369909568
60 V>G No ClinGen
Ensembl
CA4541015
rs769721532
61 V>I No ClinGen
ExAC
gnomAD
rs145149161
CA4541014
62 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369909487
rs1348996692
65 E>G No ClinGen
gnomAD
rs1363508906
CA369909452
67 Y>C No ClinGen
gnomAD
rs1363508906
CA369909450
67 Y>F No ClinGen
gnomAD
rs771971136
CA4541011
67 Y>N No ClinGen
ExAC
gnomAD
CA4541010
rs747926922
68 L>F No ClinGen
ExAC
gnomAD
CA369909425
rs1296335013
69 V>L No ClinGen
TOPMed
gnomAD
CA168113394
rs773359476
70 E>V No ClinGen
TOPMed
rs778624146
CA4541009
71 A>V No ClinGen
ExAC
gnomAD
CA168113387
rs935389750
72 Q>R No ClinGen
Ensembl
CA4541008
rs368662934
73 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4541007
rs770029380
74 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA369909339
rs1389268199
75 P>S No ClinGen
TOPMed
gnomAD
CA369909345
rs1389268199
75 P>T No ClinGen
TOPMed
gnomAD
rs967686157
CA168113374
76 F>L No ClinGen
TOPMed
gnomAD
CA369909303
rs1426955651
77 L>P No ClinGen
gnomAD
rs1029052240
CA168113373
77 L>V No ClinGen
TOPMed
CA4541005
rs112188412
79 N>K No ClinGen
ExAC
gnomAD
CA4541003
COSM599746
rs150435300
80 A>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4541002
rs757696047
80 A>V No ClinGen
ExAC
gnomAD
rs140480686
CA4540999
82 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4541001
rs199966585
CA4541000
82 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759531055
CA4540996
83 W>C No ClinGen
ExAC
gnomAD
rs1586768129
CA369909204
85 C>Y No ClinGen
Ensembl
rs773260963
CA4540995
86 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs768394573
CA4540991
88 P>L No ClinGen
ExAC
gnomAD
CA4540992
rs151270254
88 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4540993
rs151270254
88 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA168113164
rs1008344123
89 G>R No ClinGen
TOPMed
gnomAD
rs748984158
CA4540990
90 A>T No ClinGen
ExAC
gnomAD
CA4540989
rs779537379
91 P>R No ClinGen
ExAC
gnomAD
CA369909132
rs1296227560
92 I>T No ClinGen
gnomAD
rs1303862836
CA369909135
92 I>V No ClinGen
TOPMed
gnomAD
CA4540988
rs371628803
94 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745353554
CA4540987
95 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA369909032
rs1171598628
97 S>T No ClinGen
gnomAD
CA4540986
rs780693169
97 S>Y No ClinGen
ExAC
gnomAD
TCGA novel 100 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757707804
CA4540985
100 P>L No ClinGen
ExAC
gnomAD
rs144871727
CA168113125
100 P>S No ClinGen
ESP
gnomAD
CA369908959
rs1388560726
102 A>T No ClinGen
gnomAD
CA4540984
rs528530642
103 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758804542
CA4540982
104 I>T No ClinGen
ExAC
gnomAD
rs995528139
CA168113107
104 I>V No ClinGen
TOPMed
gnomAD
COSM3431336
rs1280268365
CA369908885
106 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA4540980
rs745805442
107 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs140911454
CA4540979
108 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4540978
rs753871009
109 G>E No ClinGen
ExAC
gnomAD
CA4540976
rs761765487
112 A>T No ClinGen
ExAC
rs1392948135
CA369908798
112 A>V No ClinGen
gnomAD
rs1323325957
CA369908791
113 K>E No ClinGen
TOPMed
CA168113059
rs917822594
113 K>N No ClinGen
TOPMed
gnomAD
rs1586767721
CA369908765
114 V>G No ClinGen
Ensembl
rs542994466
CA168113044
114 V>I No ClinGen
1000Genomes
rs1332350635
CA369908728
116 P>L No ClinGen
gnomAD
rs1017121326
CA168113024
118 V>A No ClinGen
TOPMed
CA4540973
rs531046645
119 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs775267886
CA4540972
120 D>E No ClinGen
ExAC
gnomAD
rs769342310
CA4540971
121 S>C No ClinGen
ExAC
gnomAD
CA369908641
rs769342310
121 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs745456904
CA4540970
123 G>E No ClinGen
ExAC
gnomAD
rs1056343293
CA369908602
124 V>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1586767559
CA369908597
124 V>G No ClinGen
Ensembl
CA168112997
rs1056343293
124 V>I No ClinGen
TOPMed
gnomAD
rs78357950
CA168112995
127 I>T No ClinGen
TOPMed
gnomAD
CA369908532
rs1474661088
128 D>V No ClinGen
TOPMed
rs1466848136
CA369908498
130 Y>C No ClinGen
TOPMed
gnomAD
CA4540967
rs373767341
131 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4540965
rs541966250
134 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs147747470
CA168112960
134 M>V No ClinGen
ESP
rs1014091006
CA168112958
135 T>I No ClinGen
TOPMed
CA4540961
rs754039367
142 M>T No ClinGen
ExAC
gnomAD
CA4540962
rs145611193
142 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440521960
CA369908255
143 K>T No ClinGen
gnomAD
rs1224077981
CA369908224
145 G>S No ClinGen
gnomAD
CA4540958
rs200784338
147 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 147 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775155191
CA4540955
150 I>M No ClinGen
ExAC
gnomAD
CA4540956
rs762821957
150 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1381380703
CA369908081
153 Q>R No ClinGen
gnomAD
rs1562961359
CA369908072
154 A>T No ClinGen
Ensembl
TCGA novel 157 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778944649
CA168112919
157 W>L No ClinGen
TOPMed
gnomAD
CA168112921
rs778944649
157 W>S No ClinGen
TOPMed
gnomAD
CA369908001
rs1452886908
158 A>T No ClinGen
gnomAD
rs759134072
CA4540953
159 N>S No ClinGen
ExAC
gnomAD
CA4540951
rs770632783
160 Q>H No ClinGen
ExAC
gnomAD
rs746503679
CA4540950
161 G>R No ClinGen
ExAC
gnomAD
rs144423231
CA4540947
COSM333067
169 T>M lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4540945
rs755343930
171 P>L No ClinGen
ExAC
gnomAD
CA369907739
rs1316308047
173 N>T No ClinGen
gnomAD
CA369907722
rs1586767066
174 L>F No ClinGen
Ensembl
rs1361735996
CA369907707
175 V>A No ClinGen
gnomAD
CA4540942
rs756247852
175 V>M No ClinGen
ExAC
TOPMed
rs554165667
CA4540941
177 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1346072740
CA369907623
180 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1397243295
CA369907626
180 G>S No ClinGen
TOPMed
gnomAD
rs758300611
CA4540939
181 I>V No ClinGen
ExAC
gnomAD
rs752633024
CA4540938
184 T>A No ClinGen
ExAC
gnomAD
CA168112802
rs764991067
185 D>E No ClinGen
ExAC
gnomAD
CA369907505
rs1256762257
186 N>S No ClinGen
gnomAD
CA369907480
rs1161017363
188 G>R No ClinGen
TOPMed
CA168112795
rs200103826
189 D>N No ClinGen
TOPMed
gnomAD
rs371193450
CA4540935
190 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371193450
CA168112784
190 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371193450
CA369907433
190 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1338995118
CA369907427
191 S>G No ClinGen
TOPMed
gnomAD
rs201900070
CA168112780
191 S>I No ClinGen
gnomAD
rs1586766795
CA369907412
191 S>R No ClinGen
Ensembl
rs1297371661
CA369907389
193 F>L No ClinGen
TOPMed
rs191551474
CA4540933
193 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA369907325
rs1025740894
197 K>E No ClinGen
TOPMed
gnomAD
CA168112748
rs1025740894
197 K>Q No ClinGen
TOPMed
gnomAD
rs922865897
CA168112708
197 K>R No ClinGen
TOPMed
rs1413437938
CA369907250
201 K>N No ClinGen
gnomAD
CA4540932
rs760335843
201 K>Q No ClinGen
ExAC
gnomAD
CA369907214
rs1335256170
204 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs995559090
CA168112696
204 V>L No ClinGen
TOPMed
CA369905173
rs1285235854
211 D>E No ClinGen
gnomAD
rs1441980036
CA369905135
215 D>N No ClinGen
gnomAD
rs1334304941
CA369905099
217 E>V No ClinGen
gnomAD
rs1471894783
CA369904561
267 R>W No ClinGen
gnomAD
rs17856009
CA168109675
301 V>I No ClinGen
gnomAD
CA369904150
rs1586750339
307 L>M No ClinGen
Ensembl
CA369904145
rs1586750328
307 L>R No ClinGen
Ensembl
CA369904127
rs1465791177
309 T>I No ClinGen
gnomAD
CA369904091
rs1586750304
313 L>I No ClinGen
Ensembl
rs541847058
CA4540920
315 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA4540918
rs765206434
338 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4540917
rs754812654
343 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1439381799
CA369902962
403 R>P No ClinGen
TOPMed
rs1234360043
CA369900841
538 P>L No ClinGen
gnomAD
rs1586750140
CA369900644
546 S>R No ClinGen
Ensembl
rs1458371187
CA369900445
557 I>M No ClinGen
TOPMed
gnomAD
CA369900325
rs1397623032
565 A>V No ClinGen
TOPMed
rs1226538728
CA369899860
589 R>* No ClinGen
gnomAD
CA369899814
rs1447142465
591 P>Q No ClinGen
gnomAD
CA369899725
rs1442490806
596 R>Q No ClinGen
gnomAD
CA369899729
rs1323427149
596 R>W No ClinGen
gnomAD
rs1349934624
CA369899552
605 S>L No ClinGen
gnomAD
rs1398872694
CA369899154
625 G>D No ClinGen
gnomAD
rs1586748751
CA369899158
625 G>R No ClinGen
Ensembl
CA369898953
rs1383074623
633 G>E No ClinGen
TOPMed
CA369898924
rs1586748710
634 A>S No ClinGen
Ensembl
rs1409959523
CA369898905
635 V>L No ClinGen
TOPMed
gnomAD
CA369898546
rs1586747321
648 E>Q No ClinGen
Ensembl
CA369898519
rs1407387517
649 E>K No ClinGen
TOPMed
gnomAD
rs1222035088
CA369898458
650 W>* No ClinGen
TOPMed
CA369898378
rs1459103111
653 R>C No ClinGen
TOPMed
CA369898370
rs1191932781
653 R>H No ClinGen
TOPMed
gnomAD
rs1489537081
CA369898338
655 Q>K No ClinGen
TOPMed
gnomAD
CA168109304
rs1034318103
657 N>D No ClinGen
TOPMed
CA369898276
rs1247337118
657 N>K No ClinGen
TOPMed
gnomAD
CA369898265
rs1182696676
658 P>L No ClinGen
TOPMed
CA369898245
rs1414438381
660 P>S No ClinGen
TOPMed
rs1215790442
CA369898222
662 G>R No ClinGen
TOPMed
gnomAD
rs1445761088
CA369898189
664 L>M No ClinGen
TOPMed
gnomAD
rs1166015371
CA369898115
668 N>D No ClinGen
TOPMed
rs1395764400
CA369898069
670 I>T No ClinGen
TOPMed
rs1309365573
CA369898026
673 V>M No ClinGen
TOPMed
rs1343135219
CA369898004
674 P>L No ClinGen
TOPMed
CA369897990
rs1300867144
675 T>N No ClinGen
gnomAD
rs1283546649
CA369897987
676 A>T No ClinGen
TOPMed
rs1001457541
CA369897943
679 R>C No ClinGen
TOPMed
gnomAD
rs1001457541
CA168109288
679 R>G No ClinGen
TOPMed
gnomAD
CA369897940
rs1253444499
679 R>H No ClinGen
TOPMed
gnomAD
CA369897928
rs1586747047
680 T>P No ClinGen
Ensembl
rs1586747036
CA369897878
683 N>T No ClinGen
Ensembl
rs907118979
CA168109287
686 P>L No ClinGen
TOPMed
gnomAD
rs1287763854
CA369897825
686 P>T No ClinGen
gnomAD
CA369897777
rs1254019993
689 R>C No ClinGen
TOPMed
rs1298693294
CA369897773
689 R>H No ClinGen
TOPMed
gnomAD
rs1198896502
CA369897666
694 V>M No ClinGen
TOPMed
rs1269870576
CA369897554
699 A>V No ClinGen
TOPMed
rs1373374117
CA369897551
700 R>* No ClinGen
TOPMed
gnomAD
rs1172055069
CA369897550
700 R>Q No ClinGen
TOPMed
gnomAD
CA369897519
rs1426033222
704 E>K No ClinGen
TOPMed
gnomAD
CA369897499
rs1363104231
705 P>L No ClinGen
TOPMed
rs1186020084
CA369897507
705 P>T No ClinGen
gnomAD
CA168109280
rs1045628704
709 R>C No ClinGen
TOPMed
rs1369359457
CA369897458
709 R>H No ClinGen
TOPMed
rs1369359457
CA369897460
709 R>P No ClinGen
TOPMed
CA369897434
rs1474430101
712 Q>* No ClinGen
gnomAD
CA369897423
rs1266000970
713 R>K No ClinGen
TOPMed
gnomAD
rs1293928882
CA369897393
716 A>V No ClinGen
TOPMed
CA369897389
rs1277411992
717 D>H No ClinGen
TOPMed
rs1277411992
CA369897388
717 D>N No ClinGen
TOPMed
rs1554486077
CA369897373
718 V>L No ClinGen
Ensembl
rs1239879746
CA369897366
719 Q>* No ClinGen
gnomAD
rs1586746721
CA369897331
722 V>M No ClinGen
Ensembl
rs781361617
CA4540903
723 G>V No ClinGen
ExAC
gnomAD
rs1194819030
CA369897217
725 M>I No ClinGen
TOPMed
rs1201983291
CA369897224
725 M>R No ClinGen
gnomAD
CA369897209
rs1319440265
726 H>R No ClinGen
gnomAD
CA4540900
rs777646594
728 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs747125862
CA4540901
728 G>R No ClinGen
ExAC
gnomAD
CA369897185
rs1447810036
729 Y>H No ClinGen
TOPMed
rs1262154028
CA369897155
731 I>M No ClinGen
gnomAD
CA369897145
rs1297858855
732 M>I No ClinGen
gnomAD
rs753777360
CA369897153
732 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA4540898
rs753777360
732 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs755938823
CA4540897
734 H>P No ClinGen
ExAC
gnomAD
CA4540896
rs755938823
734 H>R No ClinGen
ExAC
gnomAD
rs1411413952
CA369897109
735 L>R No ClinGen
TOPMed
rs1402621548
CA369897106
736 E>K No ClinGen
gnomAD
rs1402621548
CA369897105
736 E>Q No ClinGen
gnomAD
CA4540895
rs750162469
737 S>L No ClinGen
ExAC
gnomAD
rs962539490
CA168108604
738 V>L No ClinGen
TOPMed
rs1424811539
CA369897047
741 L>V No ClinGen
gnomAD
CA369897037
rs1563209693
742 I>V No ClinGen
Ensembl
CA369897020
rs1175191084
743 N>I No ClinGen
TOPMed
gnomAD
CA369897022
rs1175191084
743 N>S No ClinGen
TOPMed
gnomAD
CA369897008
rs1212529705
744 E>G No ClinGen
gnomAD
rs1238347227
CA369897014
744 E>K No ClinGen
gnomAD
rs1362395568
CA369896996
745 K>T No ClinGen
TOPMed
rs1429486468
CA369896967
747 I>M No ClinGen
TOPMed
CA168108590
rs908006071
748 R>G No ClinGen
TOPMed
CA168108569
rs199667097
748 R>K No ClinGen
TOPMed
CA369896895
rs1316191167
754 G>S No ClinGen
TOPMed
gnomAD
rs563994530
CA168108561
755 P>A No ClinGen
1000Genomes
CA369896882
rs1275668542
755 P>L No ClinGen
TOPMed
TCGA novel 756 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1241972003
CA369896878
756 V>I No ClinGen
TOPMed
gnomAD
CA369896847
rs1332246051
758 E>G No ClinGen
gnomAD
rs775955914
CA4540889
761 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4540888
rs770185647
761 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs770185647
CA369896821
761 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA369896813
rs1416811014
762 N>S No ClinGen
TOPMed
CA369896791
rs1363646493
764 Q>K No ClinGen
gnomAD
rs771188443
CA4540885
765 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776922887
CA4540886
765 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA369896743
rs1586741082
768 W>G No ClinGen
Ensembl
CA369896715
rs1586741073
770 F>V No ClinGen
Ensembl
rs747157381
CA4540884
771 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA369896695
rs1346472689
772 P>T No ClinGen
TOPMed
rs1445273388
CA369896681
773 H>Y No ClinGen
TOPMed
CA369896670
rs1192564418
774 T>A No ClinGen
gnomAD
CA369896666
rs1449416335
774 T>N No ClinGen
TOPMed
gnomAD
rs527857343
CA4540882
776 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 776 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1485510349
CA369896631
777 A>V No ClinGen
TOPMed
gnomAD
rs1327645921
CA369896622
778 T>S No ClinGen
TOPMed
rs749275625
CA4540881
779 C>* No ClinGen
ExAC
gnomAD
CA369896617
rs1586740972
779 C>R No ClinGen
Ensembl
rs780131944
CA4540880
781 L>P No ClinGen
ExAC
gnomAD
rs1233804989
CA369896575
782 W>* No ClinGen
gnomAD
rs1233804989
CA369896576
782 W>C No ClinGen
gnomAD
CA369896569
rs1586740892
783 C>G No ClinGen
Ensembl
CA369896535
rs1384465434
785 Y>* No ClinGen
TOPMed
gnomAD
TCGA novel 789 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756026731
CA4540879
789 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA369896494
rs1303489634
789 T>P No ClinGen
TOPMed
gnomAD
rs1296845188
CA369896467
791 L>W No ClinGen
TOPMed
gnomAD
rs1409516480
CA369896431
794 P>L No ClinGen
TOPMed
rs1361548160
CA369896427
795 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4540878
rs560497548
795 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369896418
rs1386491475
796 S>R No ClinGen
TOPMed
rs542110453
CA4540877
797 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4540876
rs754661667
797 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1198958381
CA369896381
799 N>S No ClinGen
TOPMed
gnomAD
rs1427364825
CA369896373
800 I>V No ClinGen
TOPMed
gnomAD
rs1260963412
CA369896356
801 A>V No ClinGen
gnomAD
CA369896354
rs1218672262
802 L>V No ClinGen
TOPMed
gnomAD
CA369896332
rs1373472783
804 P>T No ClinGen
gnomAD
CA369896312
rs763711044
807 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4540874
rs763711044
807 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751126928
CA4540875
807 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1257911395
CA369896289
810 R>S No ClinGen
gnomAD
CA369896267
rs1268051767
814 Y>H No ClinGen
TOPMed
gnomAD
rs1249263836
CA369896257
815 L>P No ClinGen
TOPMed
TCGA novel 815 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369896250
rs1437086863
816 S>I No ClinGen
TOPMed
rs1182424526
CA369896239
818 G>S No ClinGen
TOPMed
rs562546770
CA4540873
820 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1276919292
CA369896210
822 K>R No ClinGen
gnomAD
rs544252818
CA369896182
825 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369896185
rs1402391272
825 N>S No ClinGen
gnomAD
rs577283009
CA168108399
826 A>P No ClinGen
1000Genomes
TOPMed
gnomAD
rs1586740455
CA369896173
827 W>* No ClinGen
Ensembl
rs1413053073
CA369896175
827 W>R No ClinGen
gnomAD
CA369896159
rs1172751375
829 A>S No ClinGen
TOPMed
gnomAD
CA369896161
rs1172751375
COSM1330009
829 A>T ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1461087183
CA369896139
832 T>M No ClinGen
TOPMed
gnomAD
rs1302691112
CA369896130
833 Y>* No ClinGen
TOPMed
TCGA novel 836 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1294987453
CA369896091
837 Q>R No ClinGen
TOPMed
rs1174182176
CA369896086
838 E>Q No ClinGen
Ensembl
CA369896076
rs1289851416
839 A>D No ClinGen
gnomAD
CA4540866
rs761005605
840 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs530349018
CA4540865
844 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369896037
rs1481357969
845 F>L No ClinGen
gnomAD
CA4540863
rs544621866
846 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1332908680
CA369896022
847 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4540862
rs532398588
847 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 848 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369896018
rs1451166676
848 L>V No ClinGen
TOPMed
CA369895999
rs1321553261
851 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 852 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1157783743
CA369895983
853 R>G No ClinGen
gnomAD
CA369895974
rs1378718673
854 N>D No ClinGen
gnomAD
CA369895972
rs1485031397
854 N>S No ClinGen
TOPMed
rs1458303155
CA369895960
856 T>A No ClinGen
TOPMed
gnomAD
CA369895947
rs1478726071
857 N>K No ClinGen
TOPMed
CA369895950
rs1246196252
COSM225612
857 N>S NS [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1162791046
CA369895942
858 L>S No ClinGen
TOPMed
CA369895937
rs1220082577
859 P>S No ClinGen
TOPMed
gnomAD
CA369895928
rs1453849984
860 T>I No ClinGen
TOPMed
gnomAD
CA4540861
rs769863395
861 E>A No ClinGen
ExAC
TOPMed
rs1273895948
CA369895916
862 N>S No ClinGen
TOPMed
gnomAD
rs1402383458
CA369895871
868 L>P No ClinGen
TOPMed
rs1282992988
CA369895854
870 V>G No ClinGen
TOPMed
CA369895849
rs1216384309
871 K>R No ClinGen
gnomAD
CA369895839
rs1311066627
872 M>I No ClinGen
gnomAD
rs1351907064
CA369895844
872 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 873 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369895824
rs1240387594
874 S>C No ClinGen
gnomAD
rs1228919014
CA369895815
875 H>Q No ClinGen
TOPMed
CA369895803
rs1586736733
877 V>G No ClinGen
Ensembl
CA168108029
rs891637487
878 Q>R No ClinGen
TOPMed
CA369895789
rs1272583618
879 K>T No ClinGen
TOPMed
gnomAD
CA369895779
rs1437900003
880 N>K No ClinGen
gnomAD
rs1586736690
CA369895782
880 N>T No ClinGen
Ensembl
rs1185688514
CA369895768
882 A>G No ClinGen
TOPMed
rs1350426680
CA369895761
883 P>L No ClinGen
TOPMed
gnomAD
CA369895745
rs1586736621
885 F>L No ClinGen
Ensembl
CA369895734
rs1347917842
887 A>S No ClinGen
TOPMed
gnomAD
rs565417471
CA168108020
887 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1418709746
CA369895724
888 W>* No ClinGen
TOPMed
CA369895729
rs1586736592
888 W>G No ClinGen
Ensembl
rs1586736572
CA369895721
889 A>P No ClinGen
Ensembl
TCGA novel 890 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362183130
CA369895699
892 I>F No ClinGen
gnomAD
CA369895700
rs1362183130
892 I>V No ClinGen
gnomAD
rs1160747502
CA369895679
894 K>N No ClinGen
gnomAD
CA369895659
rs1440536122
897 A>V No ClinGen
gnomAD
rs1361545434
CA369895645
899 S>R No ClinGen
TOPMed
CA369895600
rs1189553447
906 W>L No ClinGen
gnomAD
rs1563206913
CA369895549
912 K>N No ClinGen
Ensembl
rs745762811
CA4540859
914 Y>H No ClinGen
ExAC
TCGA novel 917 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1285959709
CA369895504
919 M>T No ClinGen
TOPMed
CA369895480
rs1332824948
920 P>L No ClinGen
TOPMed
CA369895474
rs1358617265
921 H>P No ClinGen
TOPMed

No associated diseases with Q9Y4C2

No regional properties for Q9Y4C2

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9Y4C2

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane
  • Colocalizes with TRPM8 on the plasma membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
transmembrane transporter binding Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

4 GO annotations of biological process

Name Definition
negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
positive regulation of anion channel activity Any process that activates or increases the frequency, rate or extent of anion channel activity.
positive regulation of protein targeting to membrane Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein.
regulation of anion channel activity Any process that modulates the frequency, rate or extent of anion channel activity.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A5PJN5 TCAF1 TRPM8 channel-associated factor 1 Bos taurus (Bovine) PR
Q6QR59 Tcaf3 TRPM8 channel-associated factor 3 Mus musculus (Mouse) PR
A4IG42 tcaf TRPM8 channel-associated factor homolog Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MATPSAAFEA LMNGVTSWDV PEDAVPCELL LIGEASFPVM VNDMGQVLIA ASSYGRGRLV
70 80 90 100 110 120
VVSHEDYLVE AQLTPFLLNA VGWLCSSPGA PIGVHPSLAP LAKILEGSGV DAKVEPEVKD
130 140 150 160 170 180
SLGVYCIDAY NETMTEKLVK FMKCGGGLLI GGQAWDWANQ GEDERVLFTF PGNLVTSVAG
190 200 210 220 230 240
IYFTDNKGDT SFFKVSKKMP KIPVLVSCED DLSDDREELL HGISELDISN SDCFPSQLLV
250 260 270 280 290 300
HGALAFPLGL DSYHGCVIAA ARYGRGRVVV TGHKVLFTVG KLGPFLLNAV RWLDGGRRGK
310 320 330 340 350 360
VVVQTELRTL SGLLAVGGID TSIEPNLTSD ASVYCFEPVS EVGVKELQEF VAEGGGLFVG
370 380 390 400 410 420
AQAWWWAFKN PGVSPLARFP GNLLLNPFGI SITSQSLNPG PFRTPKAGIR TYHFRSTLAE
430 440 450 460 470 480
FQVIMGRKRG NVEKGWLAKL GPDGAAFLQI PAEEIPAYMS VHRLLRKLLS RYRLPVATRE
490 500 510 520 530 540
NPVINDCCRG AMLSLATGLA HSGSDLSLLV PEIEDMYSSP YLRPSESPIT VEVNCTNPGT
550 560 570 580 590 600
RYCWMSTGLY IPGRQIIEVS LPEAAASADL KIQIGCHTDD LTRASKLFRG PLVINRCCLD
610 620 630 640 650 660
KPTKSITCLW GGLLYIIVPQ NSKLGSVPVT VKGAVHAPYY KLGETTLEEW KRRIQENPGP
670 680 690 700 710 720
WGELATDNII LTVPTANLRT LENPEPLLRL WDEVMQAVAR LGAEPFPLRL PQRIVADVQI
730 740 750 760 770 780
SVGWMHAGYP IMCHLESVQE LINEKLIRTK GLWGPVHELG RNQQRQEWEF PPHTTEATCN
790 800 810 820 830 840
LWCVYVHETV LGIPRSRANI ALWPPVREKR VRIYLSKGPN VKNWNAWTAL ETYLQLQEAF
850 860 870 880 890 900
GWEPFIRLFT EYRNQTNLPT ENVDKMNLWV KMFSHQVQKN LAPFFEAWAW PIQKEVATSL
910 920
AYLPEWKENI MKLYLLTQMP H