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 Q8WWU5

Entry ID Method Resolution Chain Position Source
AF-Q8WWU5-F1 Predicted AlphaFoldDB

370 variants for Q8WWU5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1456414354
CA363750779
2 P>A No ClinGen
gnomAD
rs899863200
CA137258825
4 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3769063
rs750735988
5 K>N No ClinGen
ExAC
gnomAD
rs1229709552
CA363750713
6 E>K No ClinGen
gnomAD
CA363750701
rs1162775199
7 S>R No ClinGen
TOPMed
gnomAD
rs561197879
CA137258820
9 P>L No ClinGen
1000Genomes
CA363750672
rs1359571825
9 P>S No ClinGen
TOPMed
rs1439866290
CA363750659
10 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA363750641
rs1323930663
12 Y>H No ClinGen
gnomAD
CA3769061
rs762189731
13 P>L No ClinGen
ExAC
gnomAD
CA363750620
rs1381928600
13 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3769060
rs774496499
14 G>C No ClinGen
ExAC
gnomAD
CA3769055
rs543124451
18 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763012661
CA3769056
18 G>S No ClinGen
ExAC
CA3769053
rs200719262
19 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3769052
rs772842447
19 R>M No ClinGen
ExAC
gnomAD
rs201851411
CA3769051
20 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 21 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3769049
rs201458023
21 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA3769045
rs755782847
28 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA3769043
rs767710443
28 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA3769044
rs767710443
28 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA3769046
rs755782847
28 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA363750347
rs755782847
28 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA3769042
rs757626295
29 P>R No ClinGen
ExAC
gnomAD
CA3769039
rs763065536
30 Q>* No ClinGen
ExAC
gnomAD
CA3769038
rs775498454
30 Q>P No ClinGen
ExAC
TOPMed
rs775498454
CA137258679
30 Q>R No ClinGen
ExAC
TOPMed
rs35693439
CA3769035
32 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765473542
CA3769036
32 D>N No ClinGen
ExAC
gnomAD
CA3769034
rs773071336
35 G>D No ClinGen
ExAC
gnomAD
rs747971863
CA3769032
36 S>C No ClinGen
ExAC
gnomAD
CA3769030
rs768692818
37 E>K No ClinGen
ExAC
gnomAD
rs748833848
CA363750171
38 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs779675502
CA363750167
39 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA3769028
rs779675502
39 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA137258630
rs960823929
40 P>R No ClinGen
TOPMed
CA3769026
rs745455902
40 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs909615555
CA137258613
41 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA137258607
rs1030887195
42 F>V No ClinGen
TOPMed
CA363748734
rs1393925509
45 V>F No ClinGen
gnomAD
rs374601449
CA137255795
47 G>D No ClinGen
ESP
TOPMed
gnomAD
rs754716204
CA3768945
49 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 50 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370605224
CA3768943
51 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768940
rs199809733
52 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3768939
rs767188052
53 N>H No ClinGen
ExAC
gnomAD
CA3768937
rs774597120
56 S>F No ClinGen
ExAC
gnomAD
CA137255728
rs202046288
57 K>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3768936
rs202046288
57 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA137255724
rs1024658371
58 L>M No ClinGen
TOPMed
gnomAD
TCGA novel 61 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363748518
rs904401585
64 M>R No ClinGen
TOPMed
gnomAD
CA137255719
rs904401585
64 M>T No ClinGen
TOPMed
gnomAD
rs1405121684
CA363748498
66 C>S No ClinGen
gnomAD
rs1170864520
CA363748496
66 C>Y No ClinGen
TOPMed
gnomAD
CA363748458
rs1426080139
69 Y>C No ClinGen
TOPMed
CA3768933
rs776111702
70 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA3768932
rs770373406
71 E>D No ClinGen
ExAC
gnomAD
rs529870463
CA3768931
73 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA363748406
rs1562008782
74 V>F No ClinGen
Ensembl
rs200759685
CA3768930
76 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363748385
rs1345817697
76 P>S No ClinGen
gnomAD
rs1399436117
CA363748373
77 P>L No ClinGen
gnomAD
CA3768929
rs771291103
78 S>G No ClinGen
ExAC
gnomAD
CA3768928
rs747313916
79 S>G No ClinGen
ExAC
CA363748356
rs1174638457
79 S>N No ClinGen
gnomAD
CA363747770
rs1562000718
80 L>P No ClinGen
Ensembl
CA363747730
rs1475863816
82 G>D No ClinGen
TOPMed
gnomAD
rs1053898388
CA137252679
86 E>D No ClinGen
TOPMed
gnomAD
rs561528550
CA137252671
87 T>I No ClinGen
Ensembl
CA3768912
rs147549679
88 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA363747592
rs1398339111
88 V>M No ClinGen
TOPMed
rs760059724
CA3768910
90 N>D No ClinGen
ExAC
gnomAD
CA3768908
rs771201385
90 N>K No ClinGen
ExAC
gnomAD
CA3768909
rs201795646
90 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA363747473
rs1386568512
94 D>E No ClinGen
TOPMed
rs778104076
CA3768906
102 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs145037860
CA3768905
102 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1353997193
CA363747318
104 P>A No ClinGen
gnomAD
rs1300260237
CA363747312
104 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA137252635
rs962728918
105 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 106 D>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3768903
rs368275334
106 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA137252609
rs866816400
108 S>I No ClinGen
Ensembl
CA137252606
rs1016966105
109 C>R No ClinGen
TOPMed
CA363747207
rs1167831775
111 L>I No ClinGen
TOPMed
gnomAD
CA363747206
rs1167831775
111 L>V No ClinGen
TOPMed
gnomAD
CA137252605
rs980154902
112 E>G No ClinGen
TOPMed
rs1462583250
CA363747170
114 L>R No ClinGen
gnomAD
TCGA novel 120 I>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs894732301
CA137249615
125 L>V No ClinGen
Ensembl
rs144320775
CA3768880
128 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3768878
rs746528793
128 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3768879
rs746528793
128 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs899153308
CA137249581
129 Q>K No ClinGen
Ensembl
CA3768876
rs757908827
131 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs150752841
CA3768875
COSM186289
131 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150752841
CA363746599
131 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768874
rs558253635
133 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1384595465
CA363746565
135 E>A No ClinGen
TOPMed
gnomAD
rs755441742
CA3768873
136 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1289422334
CA363746519
138 E>A No ClinGen
gnomAD
CA3768872
rs754205823
139 A>V No ClinGen
ExAC
gnomAD
CA3768871
rs539582879
141 D>A No ClinGen
1000Genomes
ExAC
gnomAD
CA363746496
rs1443040177
141 D>Y No ClinGen
TOPMed
CA3768870
rs200041132
142 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs940755138
CA137249550
142 M>V No ClinGen
Ensembl
rs1454501884
CA363746462
143 D>N No ClinGen
gnomAD
CA363746439
COSM596158
rs142915532
144 L>F lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1051381139
CA137249540
145 L>F No ClinGen
Ensembl
CA3768868
rs767553081
146 K>R No ClinGen
ExAC
gnomAD
rs761880060
CA3768867
147 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA363746407
rs1263910503
147 Q>R No ClinGen
gnomAD
rs1166732028
CA363746379
149 A>S No ClinGen
TOPMed
rs1327578490
CA363746375
149 A>V No ClinGen
gnomAD
rs1561992858
CA363746364
150 E>G No ClinGen
Ensembl
rs768848363
CA3768865
151 H>P No ClinGen
ExAC
gnomAD
CA3768864
rs375000730
153 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768863
rs776337343
155 K>R No ClinGen
ExAC
gnomAD
CA363746292
rs1348995170
156 V>I No ClinGen
TOPMed
gnomAD
CA3768862
rs770912471
157 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs139258646
CA3768860
158 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139258646
CA363746263
158 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1295666803
CA363746238
160 S>C No ClinGen
gnomAD
rs1295666803
CA363746236
160 S>F No ClinGen
gnomAD
rs757885410
CA3768859
161 K>E No ClinGen
ExAC
gnomAD
CA3768858
rs747639934
161 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs754639015
CA3768856
163 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs372296449
CA3768855
165 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA363746177
rs199753305
166 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA3768854
rs199753305
166 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA3768853
rs756489956
167 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1427930390
CA363746147
170 L>Q No ClinGen
gnomAD
TCGA novel 172 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363746126
rs1486230309
173 P>L No ClinGen
gnomAD
rs768039790
CA3768851
173 P>T No ClinGen
ExAC
gnomAD
COSM1078295
rs199835007
CA3768849
175 R>* endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA3768850
rs199835007
175 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750331817
CA137249431
175 R>P No ClinGen
ExAC
gnomAD
rs750331817
CA3768848
175 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA137249428
rs977179353
176 D>G No ClinGen
Ensembl
rs1191640351
CA363746100
178 A>V No ClinGen
TOPMed
COSM3366476
CA137249419
rs775764694
179 V>L kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3768846
rs775764694
179 V>M No ClinGen
ExAC
gnomAD
CA363746068
rs1456588725
183 E>A No ClinGen
TOPMed
gnomAD
TCGA novel 184 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3768844
rs760486424
184 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs533808712
CA3768843
185 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3768842
rs146246778
COSM1443986
186 T>M pancreas large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs368388208
CA3768841
187 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411395659
CA363746037
188 P>S No ClinGen
gnomAD
CA363746039
rs1411395659
188 P>T No ClinGen
gnomAD
CA363746033
rs1168665163
189 V>I No ClinGen
gnomAD
rs1232463911
CA363746021
190 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA363746026
rs1465184197
190 W>R No ClinGen
gnomAD
CA3768840
rs778500766
191 L>P No ClinGen
ExAC
gnomAD
CA363746007
rs1581804782
193 R>K No ClinGen
Ensembl
CA363745967
rs1287665637
197 Q>* No ClinGen
gnomAD
rs371137302
CA3768814
197 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371137302
CA3768815
197 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768813
rs757600603
200 G>S No ClinGen
ExAC
gnomAD
CA3768811
rs778219246
201 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200541069
CA3768812
201 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA363745932
rs1328093669
203 K>T No ClinGen
gnomAD
rs752771922
CA3768809
204 M>T No ClinGen
ExAC
gnomAD
CA3768808
rs765409364
207 V>L No ClinGen
ExAC
TOPMed
rs201092504
CA3768804
210 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3768802
rs774471334
211 I>V No ClinGen
ExAC
gnomAD
CA3768800
rs764104836
213 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3768799
rs762394336
215 Q>R No ClinGen
ExAC
gnomAD
rs1244438506
CA363745839
216 P>R No ClinGen
gnomAD
CA137248802
rs941436362
216 P>S No ClinGen
TOPMed
TCGA novel 217 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776259421
CA3768795
221 H>R No ClinGen
ExAC
gnomAD
CA3768796
rs745588245
221 H>Y No ClinGen
ExAC
gnomAD
CA363745766
rs1445164091
224 Q>* No ClinGen
TOPMed
CA3768794
rs771322225
224 Q>H No ClinGen
ExAC
gnomAD
rs1349735266
CA363745765
224 Q>P No ClinGen
gnomAD
TCGA novel 224 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363745747
rs1235260144
225 Y>* No ClinGen
gnomAD
rs202025517
CA137248784
226 E>G No ClinGen
1000Genomes
CA363745726
rs1273142004
227 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA137248781
rs954988108
227 R>W No ClinGen
gnomAD
CA3768793
rs747350461
228 A>T No ClinGen
ExAC
TOPMed
CA3768791
rs758862942
229 K>E No ClinGen
ExAC
gnomAD
CA3768790
rs748180958
233 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 234 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363745607
rs1377625100
237 Q>* No ClinGen
gnomAD
CA3768776
rs776312603
239 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs770519277
CA3768775
240 L>F No ClinGen
ExAC
gnomAD
CA363745522
rs1482132412
241 L>F No ClinGen
gnomAD
CA137248664
rs530781724
246 K>R No ClinGen
gnomAD
CA363745426
rs1217396081
249 T>I No ClinGen
gnomAD
CA3768770
rs2234045
VAR_039692
253 G>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1581799183
CA363745382
254 D>A No ClinGen
Ensembl
TCGA novel 254 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3768769
rs755127178
255 L>F No ClinGen
ExAC
gnomAD
rs749358203
CA3768768
257 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs780448674
CA3768767
259 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA3768766
rs756367121
260 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs758120624
CA3768763
264 D>A No ClinGen
ExAC
gnomAD
CA363745077
rs1163935151
264 D>E No ClinGen
gnomAD
rs777657692
CA3768764
264 D>Y No ClinGen
ExAC
gnomAD
CA3768762
rs752717040
265 T>S No ClinGen
ExAC
gnomAD
rs1458376624
CA363745010
270 S>G No ClinGen
gnomAD
CA363745004
rs1237739096
270 S>T No ClinGen
gnomAD
rs753303993
CA3768759
272 A>G No ClinGen
ExAC
gnomAD
CA137248597
rs571058019
272 A>S No ClinGen
1000Genomes
gnomAD
rs766023819
CA3768758
273 G>R No ClinGen
ExAC
rs766023819
CA363744977
273 G>S No ClinGen
ExAC
CA3768756
rs760263154
273 G>V No ClinGen
ExAC
gnomAD
rs762054767
CA3768753
275 S>P No ClinGen
ExAC
gnomAD
rs774973172
CA3768752
276 P>L No ClinGen
ExAC
gnomAD
rs768998692
CA3768751
277 N>H No ClinGen
ExAC
gnomAD
rs371115731
CA3768750
277 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1283311776
CA363744906
279 A>T No ClinGen
TOPMed
gnomAD
CA3768749
rs780219572
281 N>S No ClinGen
ExAC
gnomAD
rs1394543395
CA363744853
283 P>A No ClinGen
gnomAD
CA3768748
rs770158711
283 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA3768747
rs376470025
285 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376470025
CA3768746
285 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758259983
CA3768745
288 P>S No ClinGen
ExAC
gnomAD
rs150437868
CA137248531
290 M>I No ClinGen
ESP
TOPMed
gnomAD
rs62404564
CA3768744
290 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753359455
CA3768741
301 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753359455
CA3768742
301 L>I No ClinGen
ExAC
gnomAD
TCGA novel 302 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3768739
rs746615964
303 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA363744576
rs1209828003
303 D>Y No ClinGen
gnomAD
CA3768738
rs199758911
305 E>* No ClinGen
1000Genomes
ExAC
CA3768735
rs767056497
309 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1347384665
CA363744496
310 P>L No ClinGen
TOPMed
rs1217845931
CA363744493
311 E>K No ClinGen
gnomAD
CA363744416
rs1265433800
314 L>P No ClinGen
TOPMed
gnomAD
rs1282083854
CA363744401
315 M>T No ClinGen
Ensembl
rs754754585
CA3768723
316 D>N No ClinGen
ExAC
gnomAD
rs140505237
CA137248441
317 R>G No ClinGen
ESP
TOPMed
gnomAD
CA137248438
rs372979577
318 T>N No ClinGen
ESP
TOPMed
gnomAD
CA3768721
rs779936728
319 R>Q No ClinGen
ExAC
gnomAD
rs199729611
CA3768722
319 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1672330
rs1427129351
CA363744302
320 L>P large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs190225207
CA3768718
322 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs966772237
CA137248429
322 E>K No ClinGen
TOPMed
gnomAD
CA363744243
rs1581797591
323 L>M No ClinGen
Ensembl
rs751971112
CA3768716
326 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA137248422
rs375634528
328 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA363744142
rs1375109535
329 Q>* No ClinGen
TOPMed
rs201387409
CA3768714
329 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs765786893
COSM76696
CA137248399
332 V>F ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765786893
CA3768712
COSM241861
332 V>I Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs868637949
CA137248393
333 M>I No ClinGen
Ensembl
CA3768711
rs759717986
333 M>T No ClinGen
ExAC
gnomAD
rs776505647
CA137248392
335 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA3768710
rs776505647
335 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs757186529
CA137248366
342 S>C No ClinGen
Ensembl
TCGA novel 343 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868506529
CA137248358
345 G>D No ClinGen
Ensembl
CA3768705
rs2234046
345 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3768706
rs2234046
345 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1581797311
CA363743861
346 S>R No ClinGen
Ensembl
CA3768702
rs372743324
352 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA137248353
rs372743324
352 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA363743725
rs1164822565
354 F>L No ClinGen
TOPMed
TCGA novel 355 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1443317790
CA363743710
356 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 356 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404199363
CA363743669
358 L>V No ClinGen
TOPMed
CA363743647
rs1017696883
360 R>C No ClinGen
TOPMed
gnomAD
rs1017696883
CA137248350
360 R>G No ClinGen
TOPMed
gnomAD
CA363743645
rs1198350542
360 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs545871773
CA3768701
361 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 362 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA137248302
rs756781573
364 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs756781573
CA3768700
364 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA363743590
rs1315995243
365 L>S No ClinGen
gnomAD
rs1339627838
CA363743545
368 D>E No ClinGen
gnomAD
CA363743548
rs1245272171
368 D>G No ClinGen
gnomAD
TCGA novel 369 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763812558
CA3768698
371 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA3768677
rs779470706
374 E>Q No ClinGen
ExAC
gnomAD
rs755339702
CA3768676
375 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3768675
rs754370826
376 A>T No ClinGen
ExAC
gnomAD
CA3768674
rs766896459
377 I>M No ClinGen
ExAC
gnomAD
CA363743372
rs1437319258
377 I>V No ClinGen
gnomAD
rs1450974523
CA363743347
380 V>M No ClinGen
TOPMed
gnomAD
rs750433913
CA3768672
382 E>K No ClinGen
ExAC
gnomAD
rs750433913
CA363743319
382 E>Q No ClinGen
ExAC
gnomAD
CA363743286
rs1354092680
383 Q>R No ClinGen
gnomAD
rs761971960
CA3768669
385 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA363743197
rs984693096
389 H>L No ClinGen
TOPMed
gnomAD
rs1019823482
CA137247923
389 H>N No ClinGen
Ensembl
CA137247917
rs984693096
389 H>R No ClinGen
TOPMed
gnomAD
rs1437213857
CA363743105
393 K>Q No ClinGen
gnomAD
CA3768667
rs769613866
394 N>T No ClinGen
ExAC
gnomAD
rs1219952372
CA363743050
395 M>V No ClinGen
TOPMed
CA363743014
rs1421955552
396 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759366965
CA3768666
398 V>L No ClinGen
ExAC
gnomAD
CA137247904
COSM108038
rs147061538
399 A>V skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1157743433
CA363742939
400 L>P No ClinGen
gnomAD
CA363742932
rs1417463614
401 S>G No ClinGen
gnomAD
rs776451131
CA3768665
402 S>N No ClinGen
ExAC
gnomAD
CA363742885
rs1426635275
403 D>Y No ClinGen
TOPMed
gnomAD
CA3768664
rs770838863
405 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs142229547
CA137247889
406 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768663
rs142229547
406 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768662
rs777371930
406 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs562902814
CA3768661
407 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1351800786
CA363742813
409 M>T No ClinGen
gnomAD
rs755355317
CA3768658
413 Q>* No ClinGen
ExAC
gnomAD
rs997157057
CA137247854
413 Q>H No ClinGen
Ensembl
CA137247834
rs932951552
415 I>T No ClinGen
TOPMed
CA363742616
rs1476974758
422 V>I No ClinGen
TOPMed
CA3768655
rs754172299
425 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs552806919
CA3768653
426 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA137247482
rs571410395
427 D>G No ClinGen
1000Genomes
gnomAD
rs756602426
CA3768652
427 D>H No ClinGen
ExAC
gnomAD
CA363741980
rs1369129582
428 Q>* No ClinGen
TOPMed
gnomAD
CA3768634
rs115171214
428 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2234051
VAR_039693
CA3768631
429 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3768632
rs746410817
429 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs757381332
CA3768630
431 H>D No ClinGen
ExAC
gnomAD
rs1346306432
CA363741879
435 K>N No ClinGen
TOPMed
rs149685630
CA3768627
437 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3768628
rs149685630
437 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA363741815
rs1287526066
440 L>P No ClinGen
TOPMed
CA363741809
rs1353727033
441 G>D No ClinGen
TOPMed
TCGA novel 441 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA137247461
rs35507973
442 V>E No ClinGen
Ensembl
rs569547384
CA3768625
443 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548056330
CA3768624
444 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548056330
CA3768622
444 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs548056330
CA3768623
444 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA137247454
rs1005525749
444 R>W No ClinGen
TOPMed
CA137247436
rs374559672
447 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773869428
CA3768619
448 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs768213865
CA137247432
451 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3768618
rs768213865
451 G>V No ClinGen
ExAC
gnomAD
CA363741673
rs1163810038
453 L>F No ClinGen
gnomAD
CA363741659
rs1421789485
454 T>S No ClinGen
gnomAD
rs774971447
CA3768616
455 L>V No ClinGen
ExAC
gnomAD
TCGA novel 456 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1193746804
CA363741645
456 I>V No ClinGen
gnomAD
rs770206514
CA3768615
458 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs929158828
CA137247395
461 A>T No ClinGen
Ensembl
CA363741564
rs1440444651
461 A>V No ClinGen
gnomAD
rs781669719
CA3768613
463 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs967756304
CA137247390
464 G>D No ClinGen
TOPMed
rs1376851842
CA363741479
467 F>C No ClinGen
TOPMed
rs1425287327
CA363741473
468 V>L No ClinGen
Ensembl
rs1241232875
CA363741455
469 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA363741399
rs1258484423
473 H>R No ClinGen
TOPMed
TCGA novel 475 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA363741342
rs1479988646
477 V>M No ClinGen
TOPMed
gnomAD
rs747117260
CA3768610
480 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1225352357
CA363741286
481 Y>C No ClinGen
TOPMed
gnomAD
CA3768608
rs758379313
482 Y>C No ClinGen
ExAC
gnomAD
CA3768609
rs777960647
482 Y>H No ClinGen
ExAC
gnomAD
CA3768607
rs753031619
483 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs897648182
CA363741260
483 T>N No ClinGen
gnomAD
CA137247380
rs897648182
483 T>S No ClinGen
gnomAD
CA363741194
rs1241395500
488 T>I No ClinGen
TOPMed
gnomAD
rs765365117
CA3768606
488 T>S No ClinGen
ExAC
gnomAD
rs755987530
CA3768605
489 L>F No ClinGen
ExAC
gnomAD
CA3768604
rs750176539
493 A>P No ClinGen
ExAC
gnomAD
rs750176539
CA363741146
493 A>T No ClinGen
ExAC
gnomAD
CA3768603
rs767593115
495 A>S No ClinGen
ExAC
gnomAD
CA363741124
rs767593115
495 A>T No ClinGen
ExAC
gnomAD
CA3768600
rs763698528
502 S>P No ClinGen
ExAC
gnomAD
CA3768598
rs765845352
503 V>S No ClinGen
ExAC
gnomAD

No associated diseases with Q8WWU5

No regional properties for Q8WWU5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8WWU5

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass membrane protein
  • Cell projection, cilium, flagellum
  • Cytoplasmic vesicle, secretory vesicle, acrosome
  • Localizes on the acrosomal cap region of acrosome-intact, but not acrosome-reacted sperm
  • Colocalizes with MROH2B and PRKACA on the acrosome and tail regions in round spermatids and spermatozoa regardless of the capacitation status of the sperm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
acrosomal vesicle A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
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.
sperm flagellum A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid.
sperm midpiece The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name Definition
adenylate cyclase-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
germ cell development The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism.
protein kinase A signaling A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound.
regulation of sperm capacitation Any process that modulates the frequency, rate or extent of sperm capacitation.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8N4U5 TCP11L2 T-complex protein 11-like protein 2 Homo sapiens (Human) PR
Q5H9J9 TCP11X2 T-complex protein 11 X-linked protein 2 Homo sapiens (Human) PR
10 20 30 40 50 60
MPDVKESVPP KYPGDSEGRS CKPETSGPPQ EDKSGSEDPP PFLSVTGLTE TVNEVSKLSN
70 80 90 100 110 120
KIGMNCDYYM EEKVLPPSSL EGKVKETVHN AFWDHLKEQL SATPPDFSCA LELLKEIKEI
130 140 150 160 170 180
LLSLLLPRQN RLRIEIEEAL DMDLLKQEAE HGALKVLYLS KYVLNMMALL CAPVRDEAVQ
190 200 210 220 230 240
KLENITDPVW LLRGIFQVLG RMKMDMVNYT IQSLQPHLQE HSIQYERAKF QELLNKQPSL
250 260 270 280 290 300
LNHTTKWLTQ AAGDLTMSPP TCPDTSDSSS VAGPSPNEAA NNPEPLSPTM VLCQGFLNLL
310 320 330 340 350 360
LWDLENEEFP ETLLMDRTRL QELKSQLHQL TVMASVLLVA SSFSGSVLFG SPQFVDKLKR
370 380 390 400 410 420
ITKSLLEDFH SRPEEAILTV SEQVSQEIHQ SLKNMGLVAL SSDNTASLMG QLQNIAKKEN
430 440 450 460 470 480
CVCSVIDQRI HLFLKCCLVL GVQRSLLDLP GGLTLIEAEL AELGQKFVNL THHNQQVFGP
490 500
YYTEILKTLI SPAQALETKV ESV