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

5 structures for Q99988

Entry ID Method Resolution Chain Position Source
5VT2 X-ray 230 A A/B 197-308 PDB
5VZ3 X-ray 197 A A 197-308 PDB
5VZ4 X-ray 220 A A 197-308 PDB
6Q2J EM 410 A A/B 197-308 PDB
AF-Q99988-F1 Predicted AlphaFoldDB

341 variants for Q99988

Variant ID(s) Position Change Description Diseaes Association Provenance
CA404822660
rs1198211762
2 P>A No ClinGen
gnomAD
rs998533003
CA404822673
2 P>L No ClinGen
TOPMed
CA306201505
rs998533003
2 P>R No ClinGen
TOPMed
rs932237910
CA306201512
3 G>R No ClinGen
TOPMed
rs1600248576
CA404822716
4 Q>K No ClinGen
Ensembl
rs373073926
CA9310606
4 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404822804
rs1170820505
7 R>G No ClinGen
gnomAD
CA404822821
rs1426627214
7 R>S No ClinGen
gnomAD
CA404822843
rs772697815
8 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs772697815
CA9310608
8 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA404822846
rs772697815
8 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs760810398
CA9310610
9 V>G No ClinGen
ExAC
gnomAD
VAR_047646
CA9310609
rs1059519
9 V>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA404822851
rs1059519
9 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404822912
rs1600248628
12 S>F No ClinGen
Ensembl
rs1358419765
COSM347564
CA404823751
13 Q>* lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA9310611
rs766308906
CA404823834
14 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA404823867
rs376302581
17 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376302581
CA9310614
17 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404823883
rs751332608
19 L>M No ClinGen
ExAC
gnomAD
CA9310616
rs757242849
19 L>P No ClinGen
ExAC
gnomAD
CA404823909
rs1249695193
21 L>F No ClinGen
TOPMed
CA9310617
rs767447445
21 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1320197814
CA404823930
23 W>R No ClinGen
gnomAD
TCGA novel 24 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404823972
rs1250971253
25 P>Q No ClinGen
gnomAD
CA404824007
rs1600248678
26 H>Q No ClinGen
Ensembl
rs577008845
CA306201585
27 G>A No ClinGen
TOPMed
gnomAD
rs779393592
CA9310620
28 G>S No ClinGen
ExAC
gnomAD
rs556247365
CA306201589
33 A>T No ClinGen
1000Genomes
gnomAD
CA404824127
rs1318212458
33 A>V No ClinGen
Ensembl
rs201695537
CA404824129
34 E>K No ClinGen
gnomAD
rs201695537
CA306201592
34 E>Q No ClinGen
gnomAD
CA404824164
rs754567391
35 A>G No ClinGen
ExAC
TOPMed
gnomAD
COSM711115
CA9310622
rs754567391
35 A>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA306201617
rs772493789
37 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9310627
rs772493789
37 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1399949448
CA404824216
38 A>S No ClinGen
gnomAD
rs1399949448
CA404824211
38 A>T No ClinGen
gnomAD
CA9310629
rs151271136
38 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404824253
rs1405073661
39 S>R No ClinGen
TOPMed
CA9310630
rs771076187
41 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA306201620
rs897596081
41 P>T No ClinGen
TOPMed
rs1158426625
CA404824319
43 P>S No ClinGen
TOPMed
rs765432235
CA9310633
44 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA306201629
rs181859786
44 S>T No ClinGen
1000Genomes
CA404824352
rs1207800158
45 E>* No ClinGen
gnomAD
CA404824404
rs1490475773
47 H>R No ClinGen
gnomAD
rs1059369
CA9310638
48 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1059369
CA404824415
48 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1059369
CA9310637
VAR_010386
48 S>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9310640
rs753270463
49 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9310641
rs753270463
49 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 52 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758859571
CA9310644
53 F>L No ClinGen
ExAC
gnomAD
rs747749674
CA9310643
53 F>Y No ClinGen
ExAC
gnomAD
CA404824498
rs1296935039
54 R>Q No ClinGen
gnomAD
rs16982331
CA306201658
55 E>* No ClinGen
gnomAD
rs16982331
CA404824504
55 E>K No ClinGen
gnomAD
rs747593548
CA9310646
57 R>Q No ClinGen
ExAC
gnomAD
rs1034279886
CA306201665
61 E>K No ClinGen
TOPMed
gnomAD
CA404824582
rs1034279886
61 E>Q No ClinGen
TOPMed
gnomAD
rs201533332
CA9310648
62 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9310647
rs771321013
62 D>N No ClinGen
ExAC
gnomAD
rs745931308
CA9310649
63 L>V No ClinGen
ExAC
gnomAD
CA404824647
rs1283856244
64 L>P No ClinGen
gnomAD
rs560248639
CA404824722
68 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9310652
rs560248639
68 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9310651
rs775710896
68 R>W No ClinGen
ExAC
gnomAD
rs370093085
CA306201678
70 N>D No ClinGen
ESP
CA9310653
rs771892633
71 Q>* No ClinGen
ExAC
gnomAD
rs771892633
CA404824782
71 Q>K No ClinGen
ExAC
gnomAD
CA404824813
rs1315395520
72 S>N No ClinGen
TOPMed
rs772858793
CA9310654
74 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA404824866
rs1439525682
75 D>N No ClinGen
TOPMed
gnomAD
rs1439525682
CA404824871
75 D>Y No ClinGen
TOPMed
gnomAD
rs752145500
CA306201692
76 S>L No ClinGen
TOPMed
rs1288480990
CA404824892
76 S>P No ClinGen
TOPMed
CA404824908
rs1424168606
77 N>H No ClinGen
gnomAD
CA404824918
rs1362966528
77 N>I No ClinGen
gnomAD
rs1031367149
CA306201693
78 T>A No ClinGen
TOPMed
rs753738649
CA9310658
79 D>N No ClinGen
ExAC
gnomAD
CA9310659
rs372819877
80 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1397997585
CA404824946
81 V>I No ClinGen
gnomAD
rs752431818
CA9310661
82 P>A No ClinGen
ExAC
gnomAD
rs758095463
CA9310662
82 P>L No ClinGen
ExAC
gnomAD
rs751857872
CA9310664
83 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA404824975
rs1568330437
83 A>V No ClinGen
Ensembl
rs1239753092
CA404824985
84 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA404824994
rs1254899429
85 A>S No ClinGen
gnomAD
rs1201798835
CA404825031
87 R>L No ClinGen
TOPMed
gnomAD
CA404825027
rs1201798835
87 R>Q No ClinGen
TOPMed
gnomAD
rs757849452
CA9310665
87 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 89 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA306201708
rs1022747118
90 T>A No ClinGen
TOPMed
CA9310667
rs114827523
90 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA306201709
COSM1391675
rs114827523
90 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9310669
rs769891685
92 E>G No ClinGen
ExAC
gnomAD
CA404826620
rs1416028433
93 V>A No ClinGen
gnomAD
rs1375964470
CA404825107
93 V>M No ClinGen
gnomAD
rs887933376
CA404826627
94 R>L No ClinGen
gnomAD
rs887933376
CA306202403
94 R>Q No ClinGen
gnomAD
CA9310702
rs773905547
94 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1164000550
CA404826649
96 G>* No ClinGen
gnomAD
rs1417791337
CA404826664
97 S>A No ClinGen
gnomAD
TCGA novel 97 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750770077
CA9310706
97 S>Y No ClinGen
ExAC
gnomAD
CA9310708
rs766872918
98 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA404826680
rs1300768626
98 G>V No ClinGen
gnomAD
rs1600250470
CA404826686
99 G>S No ClinGen
Ensembl
CA404826703
rs1308998520
100 H>Q No ClinGen
gnomAD
rs1226039436
CA404826712
101 L>Q No ClinGen
gnomAD
rs1226039436
CA404826715
101 L>R No ClinGen
gnomAD
rs146900068
CA9310711
101 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404826724
rs1441952732
102 H>N No ClinGen
gnomAD
TCGA novel 103 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9310713
rs758627025
104 R>H No ClinGen
ExAC
gnomAD
rs1208250839
CA404826749
104 R>S No ClinGen
gnomAD
rs1416620245
CA404826789
106 S>F No ClinGen
TOPMed
CA306202427
rs545070690
107 R>P No ClinGen
1000Genomes
ExAC
gnomAD
CA9310714
rs545070690
107 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1406273349
CA404826790
107 R>W No ClinGen
TOPMed
CA9310716
rs769647608
109 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9310717
rs769647608
109 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1332446576
CA404826812
110 L>I No ClinGen
TOPMed
gnomAD
CA9310720
rs773889399
111 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs773889399
CA404826835
111 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs768091168
CA9310719
111 P>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1524373
rs1173385580
CA404826843
112 E>K lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA9310723
rs143208531
114 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000961633
rs147994992
CA9310725
117 A>D No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000961632
rs143520034
CA9310724
117 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs147994992
CA404826929
117 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1280691975
CA404826942
118 S>F No ClinGen
gnomAD
rs754377947
CA9310726
118 S>T No ClinGen
ExAC
gnomAD
CA404826959
rs1568330950
120 L>I No ClinGen
Ensembl
TCGA novel 121 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755483029
CA9310727
122 R>L No ClinGen
ExAC
gnomAD
CA404826998
rs755483029
122 R>P No ClinGen
ExAC
gnomAD
CA404826992
rs1344948507
122 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA306202456
rs999689035
123 A>P No ClinGen
Ensembl
CA9310728
rs765285195
125 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs758615517
CA9310730
130 T>M No ClinGen
ExAC
gnomAD
CA404827105
rs1183753258
131 A>T No ClinGen
gnomAD
rs957856329
CA306202482
131 A>V No ClinGen
Ensembl
CA404827137
rs1200216920
133 R>G No ClinGen
gnomAD
CA404827141
rs1303455631
133 R>K No ClinGen
TOPMed
CA404827160
rs115985081
134 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9310732
rs115985081
134 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA306202529
rs965305026
135 W>C No ClinGen
Ensembl
CA404827197
rs1343990216
136 D>G No ClinGen
TOPMed
rs1430871501
CA404827190
136 D>N No ClinGen
gnomAD
rs1169563590
CA404827286
141 L>Q No ClinGen
gnomAD
rs1411951062
CA404827362
145 L>F No ClinGen
gnomAD
CA9310736
rs774973928
146 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs778350753
CA9310738
148 A>G No ClinGen
ExAC
gnomAD
CA404827474
rs1285255577
149 R>K No ClinGen
gnomAD
rs747695479
CA9310739
150 P>L No ClinGen
ExAC
gnomAD
rs1218224466
CA404827510
151 Q>K No ClinGen
gnomAD
CA404827538
rs950779565
152 A>E No ClinGen
gnomAD
CA404827530
rs1256342127
152 A>T No ClinGen
gnomAD
rs950779565
CA306202573
152 A>V No ClinGen
gnomAD
CA404827553
rs1483942184
153 P>S No ClinGen
TOPMed
rs771508425
CA9310740
154 A>G No ClinGen
ExAC
gnomAD
rs1197265780
CA404827604
156 H>N No ClinGen
gnomAD
rs1600250727
CA404827606
156 H>P No ClinGen
Ensembl
rs1270370468
CA404827622
157 L>Q No ClinGen
gnomAD
CA404827656
rs1287845577
160 S>L No ClinGen
TOPMed
rs771328712
CA9310744
161 P>S No ClinGen
ExAC
gnomAD
rs865796194
CA306202596
162 P>T No ClinGen
Ensembl
rs942188038
CA306202624
163 P>L No ClinGen
TOPMed
gnomAD
CA306202621
rs942188038
163 P>Q No ClinGen
TOPMed
gnomAD
rs199679850
CA9310748
163 P>S No ClinGen
ESP
ExAC
TOPMed
CA404827714
rs1305531519
164 S>L No ClinGen
gnomAD
rs1423287197
CA404827706
164 S>P No ClinGen
gnomAD
CA404827732
rs1171704885
165 Q>H No ClinGen
gnomAD
CA404827728
rs1399435434
165 Q>P No ClinGen
gnomAD
CA404827746
rs764221522
167 D>H No ClinGen
ExAC
gnomAD
CA9310751
rs764221522
167 D>N No ClinGen
ExAC
gnomAD
CA404827759
rs916807142
168 Q>* No ClinGen
gnomAD
rs916807142
CA306202630
168 Q>K No ClinGen
gnomAD
rs1270544537
CA404827767
168 Q>R No ClinGen
gnomAD
CA404827822
rs1399995175
171 A>E No ClinGen
TOPMed
gnomAD
rs757529602
CA9310754
172 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9310755
rs780049947
173 S>P No ClinGen
ExAC
gnomAD
rs754659172
CA9310757
174 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA9310756
rs753661154
174 S>P No ClinGen
ExAC
gnomAD
rs754659172
CA404827899
174 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs961978156
CA306202635
175 S>A No ClinGen
TOPMed
gnomAD
CA404827905
rs961978156
175 S>T No ClinGen
TOPMed
gnomAD
rs868226602
CA306202640
175 S>Y No ClinGen
Ensembl
rs868867596
CA404827937
176 A>P No ClinGen
TOPMed
rs868867596
CA306202649
176 A>T No ClinGen
TOPMed
rs1387315227
CA404828035
181 E>* No ClinGen
gnomAD
rs1283071954
CA404828060
182 L>V No ClinGen
gnomAD
CA404828076
rs1265222166
183 H>N No ClinGen
TOPMed
rs1333809198
CA404828110
184 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA404828163
rs770559920
186 P>L No ClinGen
ExAC
gnomAD
CA9310763
rs770559920
186 P>Q No ClinGen
ExAC
gnomAD
rs770559920
CA404828139
186 P>R No ClinGen
ExAC
gnomAD
rs746717245
CA9310762
186 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA9310765
rs552234112
187 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA9310767
CA306202686
rs776087601
187 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA9310766
rs769997784
187 Q>L No ClinGen
ExAC
gnomAD
CA9310769
rs764317780
189 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA9310772
rs762192147
191 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1459703261
CA404828285
191 G>R No ClinGen
gnomAD
rs1254999181 192 R>A Variant assessed as Somatic; 6.686e-05 impact. [NCI-TCGA] No NCI-TCGA
CA404828329
rs1386618349
192 R>H No ClinGen
TOPMed
rs1053928509
CA306202720
193 R>H No ClinGen
TOPMed
CA9310776
rs754819829
193 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA404828361
rs1172103008
194 R>G No ClinGen
gnomAD
CA404828363
rs1404100401
194 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1383342718
CA404828403
196 R>L No ClinGen
TOPMed
gnomAD
rs1338442890
CA404828395
196 R>S No ClinGen
gnomAD
rs1390719432
CA404828437
197 A>V No ClinGen
gnomAD
CA404828473
rs1239054652
198 R>H No ClinGen
gnomAD
rs1318690635
CA404828460
198 R>S No ClinGen
gnomAD
CA306202723
rs765249148
199 N>S No ClinGen
Ensembl
CA9310779
rs565768917
200 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs565768917
CA9310780
200 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404828575
rs1194594571
201 D>V No ClinGen
gnomAD
rs534464462
CA9310781
201 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
VAR_047647
CA9310783
rs1058587
202 H>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA404828611
rs1175869015
202 H>R No ClinGen
gnomAD
CA9310784
rs1058587
202 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404828701
rs745462168
204 P>L No ClinGen
ExAC
gnomAD
CA9310785
rs745462168
204 P>Q No ClinGen
ExAC
gnomAD
rs1420213194
CA404828649
204 P>S No ClinGen
gnomAD
rs749868105
CA9310788
206 G>R Variant assessed as Somatic; 0.0001976 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1600251082
CA404828767
206 G>V No ClinGen
Ensembl
CA9310789
rs769279586
207 P>R No ClinGen
ExAC
gnomAD
CA404828771
rs1461252886
207 P>T No ClinGen
gnomAD
rs761995859
CA9310791
208 G>R No ClinGen
ExAC
gnomAD
CA404828846
rs1343138359
209 R>C No ClinGen
gnomAD
rs368079673
CA9310793
209 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368079673
CA404828853
209 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1018774041
CA306202786
210 C>* No ClinGen
Ensembl
CA9310794
rs760774572
210 C>R No ClinGen
ExAC
gnomAD
CA9310795
rs372120002
211 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372120002
CA404828920
211 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404828961
rs752480227
212 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA9310796
rs752480227
212 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA306202793
rs752480227
212 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA306202806
rs1025597874
213 L>Q No ClinGen
TOPMed
rs1332074995
CA404829045
214 H>L No ClinGen
TOPMed
rs751442752
CA9310799
216 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA9310801
rs780528900
217 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs745582302
CA404829136
217 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9310802
rs745582302
217 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs780528900
CA404829130
217 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA404829168
rs1356128295
218 A>E No ClinGen
TOPMed
gnomAD
CA404829158
rs1168041072
218 A>S No ClinGen
gnomAD
CA404829172
rs1356128295
218 A>V No ClinGen
TOPMed
gnomAD
rs1462402678
CA404829189
220 L>V No ClinGen
gnomAD
CA404829215
rs1363658256
221 E>D No ClinGen
gnomAD
CA404829197
rs1302522939
221 E>K No ClinGen
gnomAD
rs755708694
CA9310803
222 D>E No ClinGen
ExAC
gnomAD
rs537315987
CA404829287
224 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9310804
rs537315987
224 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749673730
CA9310805
226 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA404829360
rs1222511142
227 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9310807
rs775018710
228 W>* No ClinGen
ExAC
gnomAD
rs1308489721
CA404829407
228 W>C No ClinGen
TOPMed
gnomAD
CA9310808
rs748621260
231 S>* No ClinGen
ExAC
gnomAD
rs773146712
CA9310810
233 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9310811
rs761020016
235 V>G No ClinGen
ExAC
gnomAD
rs766507873
CA9310812
236 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA404829593
rs1346390319
237 V>A No ClinGen
TOPMed
rs776770993
CA9310813
237 V>L No ClinGen
ExAC
gnomAD
CA404829701
rs1383227693
241 I>T No ClinGen
gnomAD
rs887907177
CA306202873
242 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA404829784
rs186369683
244 C>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1290317662
CA404829801
245 P>R No ClinGen
gnomAD
rs751528957
CA9310816
245 P>S No ClinGen
ExAC
gnomAD
rs1452323772
CA404829815
246 S>C No ClinGen
gnomAD
rs1313391826
CA404829825
246 S>N No ClinGen
gnomAD
CA404829841
rs1362204548
246 S>R No ClinGen
TOPMed
gnomAD
CA404829852
rs1247431608
247 Q>* No ClinGen
gnomAD
rs1064601
CA306202903
249 R>G No ClinGen
TOPMed
CA9310817
rs761625643
249 R>P No ClinGen
ExAC
gnomAD
CA404829899
rs1064601
249 R>W No ClinGen
TOPMed
rs767111447
CA9310818
250 A>T No ClinGen
ExAC
gnomAD
CA404829920
rs1218062940
250 A>V No ClinGen
gnomAD
rs1337051892
CA404829951
251 A>G No ClinGen
TOPMed
CA9310819
rs749896240
251 A>T No ClinGen
ExAC
gnomAD
CA9310820
rs755582196
253 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs755582196
CA404829985
253 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA404830004
rs1241109830
254 H>N No ClinGen
TOPMed
gnomAD
CA404830010
rs1241109830
254 H>Y No ClinGen
TOPMed
gnomAD
rs1015065704
CA404830038
255 A>G No ClinGen
TOPMed
gnomAD
rs779865510
CA9310821
255 A>T No ClinGen
ExAC
TOPMed
rs1015065704
CA306202928
255 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 257 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1406581694
CA404830119
260 S>N No ClinGen
gnomAD
rs150500439
CA9310822
260 S>R No ClinGen
ESP
ExAC
gnomAD
rs1160695990
CA404830134
261 L>V No ClinGen
gnomAD
CA404830172
rs755423018
263 R>H No ClinGen
ExAC
gnomAD
rs755423018
CA9310823
263 R>L No ClinGen
ExAC
gnomAD
rs1451538876
CA404830189
264 L>P No ClinGen
gnomAD
rs1453966055
CA404830209
266 P>T No ClinGen
gnomAD
CA9310825
rs748711062
267 D>H No ClinGen
ExAC
gnomAD
CA404830255
rs772448360
268 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA9310826
rs772448360
268 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1285055872
CA404830277
270 P>S No ClinGen
gnomAD
CA9310828
rs115987783
271 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA306202986
rs11556750
272 P>H No ClinGen
Ensembl
rs916754669
CA404830302
272 P>S No ClinGen
gnomAD
rs916754669
CA306202985
272 P>T No ClinGen
gnomAD
rs759715270
CA404830348
275 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs759715270
CA9310831
275 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA9310834
rs761874696
277 A>G No ClinGen
ExAC
gnomAD
CA404830388
rs1468539589
277 A>T No ClinGen
gnomAD
rs761874696
CA404830393
277 A>V No ClinGen
ExAC
gnomAD
CA404830409
rs1408165090
278 S>N No ClinGen
gnomAD
rs1468936594
COSM1253149
CA404830448
280 N>S oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1173873075
CA404830472
281 P>S No ClinGen
gnomAD
COSM1666231
CA306202997
rs953273050
282 M>I eye [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1407868373
CA404830482
282 M>L No ClinGen
gnomAD
rs750316256
CA9310836
283 V>G No ClinGen
ExAC
gnomAD
CA9310835
rs200847341
283 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs760121803
CA9310837
284 L>F No ClinGen
ExAC
gnomAD
CA306203027
rs766555165
287 K>Q No ClinGen
TOPMed
CA404830640
rs765943532
288 T>A No ClinGen
ExAC
gnomAD
CA9310838
rs765943532
288 T>S No ClinGen
ExAC
gnomAD
CA9310839
rs753582192
290 T>S No ClinGen
ExAC
gnomAD
rs1200751596
CA404830691
291 G>R No ClinGen
gnomAD
rs754651673
CA9310840
292 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs754651673
CA404830705
292 V>M No ClinGen
ExAC
TOPMed
gnomAD
COSM1238973
rs1206587263
CA404830728
293 S>L oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1206587263
CA404830734
293 S>W No ClinGen
TOPMed
gnomAD
CA404830803
rs1479795526
296 T>A No ClinGen
gnomAD
rs1398024462
CA404830847
297 Y>* No ClinGen
TOPMed
CA404830902
rs1430885698
299 D>G No ClinGen
gnomAD
CA9310843
rs758727175
299 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs367741987
CA9310844
303 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9310845
rs747501744
304 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9310846
rs770946968
305 C>S No ClinGen
ExAC
gnomAD
CA9310847
rs372617009
306 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1053471806
CA306203061
307 C>R No ClinGen
Ensembl
CA404831122
rs1403138782
309 I>G No ClinGen
gnomAD

1 associated diseases with Q99988

Without disease ID

1 regional properties for Q99988

Type Name Position InterPro Accession
domain Transforming growth factor-beta, C-terminal 193 - 308 IPR001839

Functions

Description
EC Number
Subcellular Localization
  • Secreted
  • Secreted in the plasma
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 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.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.

4 GO annotations of molecular function

Name Definition
BMP receptor binding Binding to a BMP receptor.
cytokine activity The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells.
growth factor activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation.
protein homodimerization activity Binding to an identical protein to form a homodimer.

13 GO annotations of biological process

Name Definition
BMP signaling pathway The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
glial cell-derived neurotrophic factor receptor signaling pathway The series of molecular signals initiated by a ligand binding to a glial cell-derived neurotrophic factor receptor.
negative regulation of growth hormone receptor signaling pathway Any process that decreases the rate, frequency or extent of the growth hormone receptor signaling pathway. The growth hormone receptor signaling pathway is the series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand.
negative regulation of multicellular organism growth Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organism to reach its usual body size.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of myoblast fusion Any process that activates or increases the frequency, rate or extent of myoblast fusion.
positive regulation of pathway-restricted SMAD protein phosphorylation Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of protein kinase B signaling Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
reduction of food intake in response to dietary excess An eating behavior process whereby detection of a dietary excess results in a decrease in intake of nutrients.
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.
SMAD protein signal transduction The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell.
transforming growth factor beta receptor signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P21214 TGFB2 Transforming growth factor beta-2 proprotein Bos taurus (Bovine) PR
P30371 TGFB2 Transforming growth factor beta-2 proprotein Gallus gallus (Chicken) PR
P05111 INHA Inhibin alpha chain Homo sapiens (Human) PR
P61812 TGFB2 Transforming growth factor beta-2 proprotein Homo sapiens (Human) PR
P27090 Tgfb2 Transforming growth factor beta-2 proprotein Mus musculus (Mouse) PR
Q07257 Tgfb2 Transforming growth factor beta-2 proprotein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MPGQELRTVN GSQMLLVLLV LSWLPHGGAL SLAEASRASF PGPSELHSED SRFRELRKRY
70 80 90 100 110 120
EDLLTRLRAN QSWEDSNTDL VPAPAVRILT PEVRLGSGGH LHLRISRAAL PEGLPEASRL
130 140 150 160 170 180
HRALFRLSPT ASRSWDVTRP LRRQLSLARP QAPALHLRLS PPPSQSDQLL AESSSARPQL
190 200 210 220 230 240
ELHLRPQAAR GRRRARARNG DHCPLGPGRC CRLHTVRASL EDLGWADWVL SPREVQVTMC
250 260 270 280 290 300
IGACPSQFRA ANMHAQIKTS LHRLKPDTVP APCCVPASYN PMVLIQKTDT GVSLQTYDDL
LAKDCHCI