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 Q16342

Entry ID Method Resolution Chain Position Source
AF-Q16342-F1 Predicted AlphaFoldDB

321 variants for Q16342

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1307165418
CA366525004
3 A>S No ClinGen
TOPMed
CA366525001
rs1320743862
3 A>V No ClinGen
TOPMed
rs896978485
CA152244560
4 A>T No ClinGen
TOPMed
gnomAD
CA366524992
rs1485423285
5 G>A No ClinGen
TOPMed
gnomAD
CA366524995
CA152244556
rs1041184596
5 G>R No ClinGen
TOPMed
rs1485423285
CA366524991
5 G>V No ClinGen
TOPMed
gnomAD
CA366524994
rs1041184596
5 G>W No ClinGen
TOPMed
rs1050200789
CA366524988
6 A>D No ClinGen
gnomAD
CA152244531
rs567261750
6 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA152244519
rs1050200789
6 A>V No ClinGen
gnomAD
CA366524986
rs1226551155
7 R>G No ClinGen
gnomAD
rs1338569072
CA366524982
7 R>K No ClinGen
gnomAD
rs1280145723
CA366524980
7 R>S No ClinGen
TOPMed
gnomAD
CA152244513
rs1030294600
9 V>G No ClinGen
TOPMed
CA366524973
rs1345115305
9 V>M No ClinGen
TOPMed
gnomAD
rs1407451272
CA366524959
11 L>V No ClinGen
gnomAD
rs548662103
CA4108871
13 F>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA152244503
rs548662103
13 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs559964311
CA152244498
16 S>P No ClinGen
1000Genomes
TOPMed
gnomAD
CA152244494
rs966876881
18 P>L No ClinGen
TOPMed
gnomAD
CA366524894
rs1329800914
21 R>L No ClinGen
TOPMed
gnomAD
rs1329800914
CA366524896
21 R>Q No ClinGen
TOPMed
gnomAD
rs1172183055
CA366524888
23 R>S No ClinGen
gnomAD
rs1298385056
CA366524881
24 S>G No ClinGen
gnomAD
CA366524879
rs1383090409
24 S>T No ClinGen
TOPMed
gnomAD
rs1477821867
CA366524872
25 E>* No ClinGen
gnomAD
CA152244485
rs886642134
25 E>G No ClinGen
TOPMed
CA366524873
rs1477821867
25 E>Q No ClinGen
gnomAD
rs1245781109
CA366524865
26 Q>* No ClinGen
gnomAD
CA366524858
rs1384725059
27 F>L No ClinGen
gnomAD
rs1583146611
CA366524847
28 P>L No ClinGen
Ensembl
rs773036976
CA152244479
28 P>S No ClinGen
TOPMed
gnomAD
rs545103128
CA152244472
29 S>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs1485404994
CA366524833
30 K>N No ClinGen
TOPMed
rs1315976333
CA366524817
33 G>W No ClinGen
gnomAD
rs1001626835
CA366524810
34 R>L No ClinGen
TOPMed
rs1001626835
CA152244471
34 R>P No ClinGen
TOPMed
CA366524812
rs1260153564
34 R>W No ClinGen
TOPMed
gnomAD
CA366524792
rs1412114104
37 W>* No ClinGen
TOPMed
CA152244465
rs907429950
38 L>Q No ClinGen
TOPMed
rs769150716
CA4108869
40 A>V No ClinGen
ExAC
gnomAD
CA4108868
rs749670057
42 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs947729536
CA152244438
43 L>P No ClinGen
TOPMed
rs916232780
CA152244432
44 P>A No ClinGen
TOPMed
CA4108866
rs755759947
45 G>R No ClinGen
ExAC
CA366524743
rs1583146478
46 P>L No ClinGen
Ensembl
CA366524740
rs1445298245
47 Q>* No ClinGen
TOPMed
gnomAD
rs1403087872
CA366524729
48 A>V No ClinGen
TOPMed
gnomAD
CA366524727
rs1260727509
49 L>V No ClinGen
TOPMed
gnomAD
CA4108860
rs763817884
51 C>* No ClinGen
ExAC
gnomAD
rs757144594
CA4108863
51 C>S No ClinGen
ExAC
gnomAD
rs763817884
CA4108861
51 C>W No ClinGen
ExAC
gnomAD
CA4108862
rs757144594
51 C>Y No ClinGen
ExAC
gnomAD
rs762795976
CA366524691
55 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs762795976
CA4108859
55 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs61756020
CA4108857
57 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 59 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366524643
rs562369624
62 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1221204520
CA366524623
63 Q>P No ClinGen
TOPMed
gnomAD
rs1221204520
CA366524622
63 Q>R No ClinGen
TOPMed
gnomAD
CA366524609
rs1279113436
64 V>G No ClinGen
gnomAD
CA152244337
rs1040903779
64 V>L No ClinGen
gnomAD
CA152244330
rs954647065
66 A>T No ClinGen
TOPMed
CA366524568
rs1238443523
66 A>V No ClinGen
gnomAD
CA4108852
rs774982075
67 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs774982075
CA366524554
67 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA366524530
rs74482927
69 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000965744
CA4108850
rs74482927
69 P>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs889888884
CA152244286
69 P>S No ClinGen
TOPMed
CA4108848
rs769437764
70 G>S No ClinGen
ExAC
gnomAD
CA4108847
rs745536645
71 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA366524482
rs1179227419
72 P>L No ClinGen
gnomAD
rs1235865501
CA366524471
73 D>N No ClinGen
gnomAD
CA366524449
rs1285600261
74 A>G No ClinGen
gnomAD
rs756772582
CA4108845
74 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs756772582
CA366524456
74 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1216934637
CA366524439
75 F>S No ClinGen
TOPMed
rs1252833014
CA366524427
76 H>Y No ClinGen
TOPMed
rs751128316
CA4108844
78 C>S No ClinGen
ExAC
gnomAD
CA4108843
rs777682956
78 C>Y No ClinGen
ExAC
gnomAD
rs1245961743
CA366524368
79 I>S No ClinGen
TOPMed
gnomAD
CA4108842
rs555642254
79 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1286403781
CA366524304
82 F>S No ClinGen
gnomAD
CA366524235
rs1417451255
85 R>H No ClinGen
gnomAD
rs750683402
CA4108838
87 Q>E No ClinGen
ExAC
gnomAD
rs11557807
CA152244188
87 Q>H No ClinGen
Ensembl
rs117413937
CA4108836
88 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs117413937
CA366524144
88 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200184000
CA4108837
88 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA366524158
rs200184000
88 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1311899321
CA366524096
90 C>Y No ClinGen
gnomAD
CA4108834
rs764637050
92 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs763390393
CA4108833
94 R>Q No ClinGen
ExAC
gnomAD
rs148653243
CA4108800
95 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366523634
rs749064967
96 F>L No ClinGen
ExAC
gnomAD
rs749064967
CA4108799
96 F>V No ClinGen
ExAC
gnomAD
rs146332925
CA4108798
97 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751833442
CA4108796
99 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA366523524
rs1397364784
101 P>R No ClinGen
gnomAD
CA366523542
rs1448863958
101 P>S No ClinGen
gnomAD
rs1302325047
CA366523522
102 R>G No ClinGen
gnomAD
CA4108794
rs758393282
103 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA152243349
rs921145029
104 N>K No ClinGen
TOPMed
gnomAD
CA152243327
rs901575261
105 D>A No ClinGen
TOPMed
CA4108792
rs367868951
105 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367868951
CA4108793
105 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA152243321
rs1038856281
108 S>* No ClinGen
TOPMed
gnomAD
rs1305779691
CA366523378
109 Y>H No ClinGen
TOPMed
TCGA novel 111 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA152243310
rs867256439
111 P>T No ClinGen
Ensembl
CA4108790
rs535353957
112 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs535353957
CA4108789
112 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1239540021
CA366523319
113 S>P No ClinGen
TOPMed
CA366523271
rs1440831997
115 N>S No ClinGen
gnomAD
CA4108787
rs772756754
116 P>L No ClinGen
ExAC
gnomAD
rs76108444
CA152243275
116 P>T No ClinGen
1000Genomes
gnomAD
rs1481955116
CA366523243
117 P>S No ClinGen
TOPMed
gnomAD
CA152243271
rs551395095
118 P>A No ClinGen
1000Genomes
CA366523223
rs1562370505
118 P>Q No ClinGen
Ensembl
CA366523158
rs1352769463
122 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1049488537
CA152243224
123 S>P No ClinGen
TOPMed
rs768662184
CA4108783
124 V>A No ClinGen
ExAC
gnomAD
rs929231855
CA366523122
124 V>L No ClinGen
TOPMed
gnomAD
rs929231855
CA152243208
124 V>M No ClinGen
TOPMed
gnomAD
CA4108782
rs749267353
125 C>F No ClinGen
ExAC
gnomAD
rs1583144836
CA366523072
126 L>F No ClinGen
Ensembl
CA366523015
rs1432424578
130 S>A No ClinGen
TOPMed
TCGA novel 130 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779926843
CA4108781
131 G>V No ClinGen
ExAC
gnomAD
TCGA novel 132 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1313755379
CA366522966
133 H>R No ClinGen
TOPMed
gnomAD
CA4108780
rs769722657
135 C>Y No ClinGen
ExAC
gnomAD
rs568563523
CA4108779
136 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1268256320
CA366522914
136 R>S No ClinGen
TOPMed
CA366522887
rs1420620795
138 C>S No ClinGen
gnomAD
TCGA novel 139 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1445425021
CA366522855
140 C>R No ClinGen
gnomAD
CA4108775
rs752697924
140 C>W No ClinGen
ExAC
gnomAD
CA4108774
rs779072921
CA366522829
141 L>* No ClinGen
ExAC
TOPMed
gnomAD
CA4108772
rs754349565
141 L>F No ClinGen
ExAC
CA366522827
rs779072921
141 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs766675033
CA4108771
142 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA366522790
rs1188277838
142 G>V No ClinGen
TOPMed
gnomAD
rs767050564
CA4108769
143 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs767050564
CA4108768
143 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs761545534
CA4108767
144 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA366522769
COSM1219910
rs1562370339
144 K>R large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1215519732
CA366522743
145 T>M No ClinGen
TOPMed
CA4108766
rs372293466
146 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366522695
rs372293466
146 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4108763
rs149555889
147 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762924182
CA4108764
147 S>P No ClinGen
ExAC
gnomAD
TCGA novel 148 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366522663
rs1393911522
148 R>K No ClinGen
TOPMed
rs1399700138
CA366522583
151 K>E No ClinGen
gnomAD
rs1338717671
CA366522581
151 K>T No ClinGen
gnomAD
rs1416865111
CA366522553
152 A>G No ClinGen
TOPMed
gnomAD
rs368569104
CA4108761
152 A>P No ClinGen
ESP
ExAC
gnomAD
CA4108760
rs368569104
152 A>T No ClinGen
ESP
ExAC
gnomAD
rs1416865111
CA366522550
152 A>V No ClinGen
TOPMed
gnomAD
rs748435640
CA4108758
153 Y>C No ClinGen
ExAC
gnomAD
rs1459879826
CA366522461
156 S>G No ClinGen
gnomAD
rs1419466134
CA366522445
157 K>E No ClinGen
TOPMed
gnomAD
rs1315925712
CA366522394
158 E>D No ClinGen
TOPMed
rs1390590960
CA366522370
159 H>N No ClinGen
TOPMed
CA366522366
rs1435676056
159 H>R No ClinGen
TOPMed
rs778899901
CA4108757
160 Q>H No ClinGen
ExAC
gnomAD
rs375620318
CA366522319
161 T>I No ClinGen
ESP
gnomAD
rs375620318
CA152243067
161 T>N No ClinGen
ESP
gnomAD
rs1447401472
CA366522274
163 D>E No ClinGen
gnomAD
CA4108755
rs753980808
164 W>* No ClinGen
ExAC
rs1583144521
CA366522249
164 W>* No ClinGen
Ensembl
CA152243058
rs780538358
165 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4108754
rs780538358
165 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs756658704
CA4108753
168 H>R No ClinGen
ExAC
gnomAD
rs750701272
CA4108752
169 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA4108750
rs756790601
171 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA366522176
rs1280368921
172 C>S No ClinGen
gnomAD
CA366522171
rs1228389140
173 A>T No ClinGen
gnomAD
CA4108749
rs772263336
173 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1395423021
CA366521982
177 H>Y No ClinGen
gnomAD
CA366521963
rs1437734028
179 D>E No ClinGen
gnomAD
TCGA novel 179 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366521960
rs1234744113
180 H>Y No ClinGen
TOPMed
gnomAD
TCGA novel 184 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366521932
rs1276804074
184 D>N No ClinGen
gnomAD
rs776651392
CA4108722
186 N>D No ClinGen
ExAC
gnomAD
CA4108721
rs766274052
186 N>S No ClinGen
ExAC
gnomAD
rs778255010
CA152242624
187 F>S No ClinGen
Ensembl
CA366521904
rs773053732
188 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs773053732
CA4108719
188 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA4108718
rs375838507
189 F>L No ClinGen
ESP
ExAC
gnomAD
rs932358258
CA152242577
190 P>L No ClinGen
Ensembl
CA4108716
rs577424007
190 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 191 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs558824933
CA4108714
194 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs373202680
CA4108713
195 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 197 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA152242543
rs781338071
198 T>A No ClinGen
Ensembl
rs757772974
CA4108712
200 D>N No ClinGen
ExAC
gnomAD
CA4108710
rs778296317
CA4108709
201 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 203 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4108707
rs758056878
204 P>S No ClinGen
ExAC
gnomAD
CA366521786
rs1471933080
205 E>D No ClinGen
Ensembl
rs752427699
CA4108706
206 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs754486906
CA4108704
207 V>M No ClinGen
ExAC
gnomAD
CA366521740
rs1214921989
212 Y>D No ClinGen
gnomAD
rs899489150
CA152242508
214 E>G No ClinGen
Ensembl
CA4108702
rs753325570
214 E>K No ClinGen
ExAC
gnomAD
rs760583517
CA4108700
218 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA4108699
CA152242484
rs192662962
218 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4108698
rs767335031
219 M>V No ClinGen
ExAC
gnomAD
rs1312340714
CA366521368
220 G>A No ClinGen
TOPMed
CA152242478
rs946628632
220 G>S No ClinGen
gnomAD
CA152240150
rs949889673
221 E>* No ClinGen
Ensembl
rs917342588
CA152240148
221 E>A No ClinGen
Ensembl
rs1413154881
CA366521355
222 A>V No ClinGen
gnomAD
CA4108668
rs779199451
223 L>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 224 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1439612570
CA366521331
226 E>* No ClinGen
TOPMed
gnomAD
rs138337157
CA4108665
226 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1479429105
CA366521324
227 L>P No ClinGen
TOPMed
CA4108664
rs150472476
227 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4108662
rs745426165
230 M>T No ClinGen
ExAC
gnomAD
rs376751655
CA4108663
230 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141160861
CA4108661
232 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA366521284
rs1345526917
233 H>R No ClinGen
TOPMed
gnomAD
CA4108660
rs757244867
234 E>A No ClinGen
ExAC
gnomAD
rs56926064
CA4108659
235 S>F No ClinGen
ExAC
gnomAD
rs56926064
CA152240116
235 S>Y No ClinGen
ExAC
gnomAD
CA366521269
rs1376069332
236 R>G No ClinGen
gnomAD
CA366521266
rs1304710615
236 R>T No ClinGen
gnomAD
CA366521259
rs1358945679
237 E>G No ClinGen
TOPMed
CA152240113
rs951618288
237 E>K No ClinGen
Ensembl
CA366521232
rs1562367423
241 F>I No ClinGen
Ensembl
CA4108658
rs763802273
242 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs202247759
CA366521222
242 Q>P No ClinGen
gnomAD
CA152240107
rs202247759
242 Q>R No ClinGen
gnomAD
CA4108657
rs755188301
243 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1302531250
CA366521215
243 K>R No ClinGen
gnomAD
CA366521206
rs1377713500
244 F>C No ClinGen
gnomAD
rs1174656150
CA366521194
246 T>A No ClinGen
gnomAD
CA4108655
rs766755961
247 Q>H No ClinGen
ExAC
gnomAD
rs754029431
CA4108656
247 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA366521168
rs1420394608
250 L>F No ClinGen
gnomAD
rs1250587686
CA366521164
251 E>K No ClinGen
gnomAD
CA4108653
rs760804113
252 P>S No ClinGen
ExAC
gnomAD
CA366521142
rs1562367356
254 Q>E No ClinGen
Ensembl
CA366521139
rs1484407566
254 Q>R No ClinGen
TOPMed
gnomAD
rs1293945573
CA366520865
256 L>F No ClinGen
gnomAD
TCGA novel 260 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366520829
rs1562366728
261 G>A No ClinGen
Ensembl
rs774703417
CA4108632
261 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs764705175
CA4108628
263 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA366520812
rs1390450965
264 P>L No ClinGen
gnomAD
rs763226032
CA4108627
265 I>L No ClinGen
ExAC
gnomAD
CA152239304
rs912946476
265 I>T No ClinGen
Ensembl
CA4108625
rs769380262
266 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA152239303
rs775892587
266 W>G No ClinGen
ExAC
TOPMed
gnomAD
rs775892587
CA4108626
266 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1421953451
CA366520782
269 G>D No ClinGen
TOPMed
CA4108623
rs776080602
270 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4108622
rs140553523
271 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140573137
CA4108621
275 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366520740
rs140573137
275 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4108620
rs777538268
277 D>G No ClinGen
ExAC
gnomAD
CA366520725
rs777538268
277 D>V No ClinGen
ExAC
gnomAD
rs1469953913
CA366520718
278 I>N No ClinGen
gnomAD
rs1252067185
CA366520711
279 P>L No ClinGen
gnomAD
rs747878373
CA4108618
280 D>G No ClinGen
ExAC
gnomAD
rs772112538
CA4108619
280 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs772112538
CA366520708
280 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs772112538
CA366520707
280 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1331074417
CA366520662
286 K>N No ClinGen
TOPMed
gnomAD
CA4108578
rs774403635
294 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA366520533
rs1459366462
294 M>T No ClinGen
TOPMed
CA366520515
rs1301151559
296 Q>H No ClinGen
gnomAD
CA366520513
rs1444475662
297 L>V No ClinGen
TOPMed
gnomAD
rs1185276783
CA366520505
298 L>P No ClinGen
gnomAD
CA4108576
rs749084257
303 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs140493653
CA366520459
305 R>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA152238433
rs140493653
305 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140493653
COSM595314
CA4108574
305 R>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs977638677
CA152238428
306 L>V No ClinGen
TOPMed
CA366520449
rs1214939626
307 G>D No ClinGen
gnomAD
rs1231454593
CA366520435
309 S>N No ClinGen
TOPMed
CA366520430
rs1401572089
310 I>V No ClinGen
TOPMed
gnomAD
rs747287336
CA4108573
312 W>* No ClinGen
ExAC
gnomAD
rs1364033868
CA366520409
312 W>C No ClinGen
gnomAD
CA366520404
rs1270508409
313 G>D No ClinGen
gnomAD
rs913520846
CA152238421
315 L>Q No ClinGen
TOPMed
CA366520393
rs1562365999
315 L>V No ClinGen
Ensembl
TCGA novel 316 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 316 A>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1439910012
CA366520384
317 V>I No ClinGen
TOPMed
rs146748595
CA152238420
319 T>I No ClinGen
ESP
TOPMed
gnomAD
rs1583138420
CA366520360
320 C>* No ClinGen
Ensembl
rs377003096
CA4108570
320 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4108571
rs377003096
320 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA152238404
rs975865539
321 A>G No ClinGen
TOPMed
CA4108569
rs373713795
322 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA366520329
rs1477231650
325 S>C No ClinGen
TOPMed
TCGA novel 327 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366520295
rs1583138403
327 G>D No ClinGen
Ensembl
rs755535884
CA4108568
330 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs754140920
CA4108567
331 T>R No ClinGen
ExAC
gnomAD
CA366520247
rs1168476894
332 E>* No ClinGen
gnomAD
CA366520203
rs766767936
334 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs766767936
CA366520199
334 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA4108566
rs766767936
334 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs755678073
CA4108565
337 K>R No ClinGen
ExAC
gnomAD
CA366520145
rs1452965779
338 Q>* No ClinGen
gnomAD
rs1255357725
CA366520117
340 V>I No ClinGen
gnomAD
rs1237445612
CA366520081
342 D>E No ClinGen
TOPMed
gnomAD
rs188661022
CA4108563
342 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372458890
CA4108561
343 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372458890
CA152238361
343 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142102398
CA4108558
344 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4108559
rs768179250
344 P>R* No ClinGen
ExAC
rs774065733
CA4108560
344 P>S No ClinGen
ExAC
gnomAD
CA4108554
rs769654228
345 P>Q No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q16342

2 regional properties for Q16342

Type Name Position InterPro Accession
domain Zinc finger, MYND-type 135 - 172 IPR002893
domain Programmed cell death protein 2, C-terminal 238 - 339 IPR007320

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
enzyme binding Binding to an enzyme, a protein with catalytic activity.
metal ion binding Binding to a metal ion.

5 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of hematopoietic stem cell proliferation Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell proliferation.
regulation of hematopoietic progenitor cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2YDC9 PDCD2 Programmed cell death protein 2 Bos taurus (Bovine) PR
10 20 30 40 50 60
MAAAGARPVE LGFAESAPAW RLRSEQFPSK VGGRPAWLGA AGLPGPQALA CELCGRPLSF
70 80 90 100 110 120
LLQVYAPLPG RPDAFHRCIF LFCCREQPCC AGLRVFRNQL PRKNDFYSYE PPSENPPPET
130 140 150 160 170 180
GESVCLQLKS GAHLCRVCGC LGPKTCSRCH KAYYCSKEHQ TLDWRLGHKQ ACAQPDHLDH
190 200 210 220 230 240
IIPDHNFLFP EFEIVIETED EIMPEVVEKE DYSEIIGSMG EALEEELDSM AKHESREDKI
250 260 270 280 290 300
FQKFKTQIAL EPEQILRYGR GIAPIWISGE NIPQEKDIPD CPCGAKRILE FQVMPQLLNY
310 320 330 340
LKADRLGKSI DWGILAVFTC AESCSLGTGY TEEFVWKQDV TDTP