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

4 structures for P08833

Entry ID Method Resolution Chain Position Source
1ZT3 X-ray 180 A A 172-251 PDB
1ZT5 X-ray 182 A A 172-251 PDB
2DSQ X-ray 280 A G/H 166-259 PDB
AF-P08833-F1 Predicted AlphaFoldDB

257 variants for P08833

Variant ID(s) Position Change Description Diseaes Association Provenance
CA4249529
rs747541587
5 P>S No ClinGen
ExAC
gnomAD
rs148297000
CA4249530
6 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777344533
CA4249531
8 R>G No ClinGen
ExAC
gnomAD
rs1327235387
CA367438948
8 R>H No ClinGen
TOPMed
gnomAD
CA4249532
rs111255251
9 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770884467
CA4249533
10 W>* No ClinGen
ExAC
gnomAD
CA367438991
rs1156892103
12 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA158012801
rs1013993759
16 L>P No ClinGen
Ensembl
CA4249537
rs775494697
18 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA158012807
rs1033685071
19 Q>* No ClinGen
TOPMed
CA4249539
rs138841724
20 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367439164
rs1334797638
21 G>R No ClinGen
gnomAD
rs1334797638
CA367439161
21 G>S No ClinGen
gnomAD
CA4249540
rs776759256
22 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1310779795
CA367439178
22 V>M No ClinGen
TOPMed
gnomAD
rs761982277
CA4249541
24 A>V No ClinGen
ExAC
gnomAD
rs765612314
CA4249542
27 P>A No ClinGen
ExAC
gnomAD
rs758909946
CA4249544
27 P>R No ClinGen
ExAC
gnomAD
rs765612314
CA4249543
27 P>T No ClinGen
ExAC
gnomAD
CA4249545
rs766860058
28 W>C No ClinGen
ExAC
gnomAD
CA158012859
rs373659181
29 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367439318
rs1437433476
30 C>Y No ClinGen
gnomAD
CA367439340
rs1562794853
31 A>E No ClinGen
Ensembl
rs777300659
CA4249548
31 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs748974940
CA4249549
33 C>* No ClinGen
ExAC
gnomAD
rs1375805567
CA367439400
35 A>S No ClinGen
gnomAD
CA4249552
rs745725926
37 K>R No ClinGen
ExAC
gnomAD
CA4249553
rs376937815
39 A>E No ClinGen
ESP
ExAC
gnomAD
CA158012892
rs570379585
39 A>T No ClinGen
1000Genomes
CA158012906
rs376937815
39 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs775339662
CA4249554
40 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4249555
rs746935293
41 C>Y No ClinGen
ExAC
gnomAD
rs1583659797
CA367439538
42 P>L No ClinGen
Ensembl
TCGA novel 42 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1439444908
CA367439532
42 P>S No ClinGen
gnomAD
rs762033595
CA4249559
44 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA367439602
rs1346405253
45 S>Y No ClinGen
TOPMed
CA4249560
rs769935884
46 A>T No ClinGen
ExAC
gnomAD
CA4249561
rs773415946
47 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA4249562
rs537400616
48 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1265229030
CA367439650
49 S>L No ClinGen
gnomAD
rs1193074747
CA367439645
49 S>T No ClinGen
gnomAD
CA367439681
rs1176635610
51 V>A No ClinGen
gnomAD
rs1434812225
CA367439677
51 V>F No ClinGen
gnomAD
CA367439690
rs1583659842
52 T>N No ClinGen
Ensembl
rs766739368
CA367439706
53 R>G No ClinGen
ExAC
gnomAD
CA367439716
rs1463803822
53 R>P No ClinGen
TOPMed
gnomAD
CA367439714
rs1463803822
53 R>Q No ClinGen
TOPMed
gnomAD
rs752043707
CA4249564
55 A>S No ClinGen
ExAC
gnomAD
CA367439737
rs752043707
55 A>T No ClinGen
ExAC
gnomAD
CA158012969
rs1032901864
56 G>A No ClinGen
Ensembl
CA4249566
rs370226543
56 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753334604
CA4249567
58 G>S No ClinGen
ExAC
gnomAD
rs1302538902
CA367439808
58 G>V No ClinGen
TOPMed
gnomAD
rs1217126161
CA367439862
61 P>S No ClinGen
gnomAD
rs1318871592
CA367439902
63 C>G No ClinGen
gnomAD
TCGA novel 63 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA158012986
rs910893952
64 A>D No ClinGen
TOPMed
CA367439919
rs1213194448
64 A>P No ClinGen
gnomAD
rs1213194448
CA367439921
64 A>S No ClinGen
gnomAD
CA367439964
rs1489480063
66 P>L No ClinGen
TOPMed
gnomAD
rs1489480063
CA367439961
66 P>R No ClinGen
TOPMed
gnomAD
TCGA novel 66 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367439983
rs1476751607
68 G>R No ClinGen
TOPMed
gnomAD
CA367439980
rs1476751607
68 G>S No ClinGen
TOPMed
gnomAD
rs1195568130
CA367439997
69 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA367440050
rs1162202771
71 C>* No ClinGen
gnomAD
rs1583659914
CA367440047
71 C>F No ClinGen
Ensembl
CA367440055
rs1351148829
72 G>S No ClinGen
gnomAD
CA367440092
rs1294648621
73 V>G No ClinGen
gnomAD
rs779860070
CA4249572
73 V>L No ClinGen
ExAC
gnomAD
CA4249573
rs746942337
74 A>P No ClinGen
ExAC
gnomAD
CA367440133
rs1341463387
76 A>S No ClinGen
gnomAD
CA367440141
rs1562794950
76 A>V No ClinGen
Ensembl
CA158013002
rs972770798
77 R>C No ClinGen
TOPMed
CA367440177
rs1317620826
78 C>* No ClinGen
TOPMed
CA367440193
rs1232927605
79 A>V No ClinGen
gnomAD
rs1259177665
CA367440200
80 R>W No ClinGen
TOPMed
rs781252053
CA367440221
81 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs781252053
CA367440219
81 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs781252053
CA4249575
81 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1448789856
CA367440247
83 S>N No ClinGen
TOPMed
CA4249576
rs748293019
83 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1448789856
CA367440248
83 S>T No ClinGen
TOPMed
rs1487249479
CA367440269
84 C>F No ClinGen
gnomAD
rs1218583203
CA367440282
85 R>S No ClinGen
gnomAD
CA367440313
rs1179762272
86 A>E No ClinGen
gnomAD
CA367440300
rs1474735357
86 A>T No ClinGen
gnomAD
TCGA novel 87 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4249579
rs773469271
88 P>L No ClinGen
ExAC
TOPMed
CA367440349
rs1157730907
89 G>R No ClinGen
gnomAD
rs771227052
CA4249581
90 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs747136225 90 E>S Variant assessed as Somatic; 0.0001703 impact. [NCI-TCGA] No NCI-TCGA
rs1473458407
CA367440419
92 Q>H No ClinGen
TOPMed
CA367440429
rs1235848036
93 P>S No ClinGen
TOPMed
rs1457764208
CA367440479
95 H>Q No ClinGen
TOPMed
rs1057021005
CA158013019
95 H>R No ClinGen
TOPMed
gnomAD
CA367440508
rs1239140332
97 L>F No ClinGen
TOPMed
rs1207125876
CA367440512
97 L>H No ClinGen
TOPMed
CA367440533
rs1301372580
99 R>G No ClinGen
gnomAD
CA367440540
rs1320317177
99 R>L No ClinGen
TOPMed
rs1229002119
CA367440571
102 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4249583
rs759968281
103 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4249584
rs768208775
103 A>V No ClinGen
ExAC
gnomAD
CA158013045
rs949506485
104 C>* No ClinGen
Ensembl
CA158013039
rs896568415
104 C>R No ClinGen
Ensembl
rs1286568446
CA367440612
105 V>E No ClinGen
gnomAD
CA367440605
rs1361607428
105 V>L No ClinGen
TOPMed
CA367440626
rs1485231887
106 Q>* No ClinGen
gnomAD
CA4249587
rs764809981
106 Q>H No ClinGen
ExAC
gnomAD
rs10156070
CA4249586
106 Q>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 106 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367440656
rs1483356970
107 E>G No ClinGen
gnomAD
CA158013090
rs374816684
108 S>F No ClinGen
1000Genomes
TOPMed
gnomAD
rs1001299186
CA367440682
109 D>A No ClinGen
TOPMed
gnomAD
CA158013092
rs1001299186
109 D>G No ClinGen
TOPMed
gnomAD
rs937250620
CA158013091
109 D>N No ClinGen
TOPMed
gnomAD
rs1160985621
CA367440702
110 A>P No ClinGen
gnomAD
CA367440704
rs1160985621
110 A>S No ClinGen
gnomAD
rs1331885776
CA367440727
111 S>F No ClinGen
gnomAD
CA158013096
rs76681789
112 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA367440745
rs1414324414
113 P>L No ClinGen
TOPMed
gnomAD
CA367440742
rs1414324414
113 P>R No ClinGen
TOPMed
gnomAD
rs78816847
CA4249588
113 P>S No ClinGen
ExAC
gnomAD
rs41258845
VAR_049564
CA4249589
114 H>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1361167833
CA367440751
114 H>L No ClinGen
gnomAD
CA367440753
rs1361167833
114 H>P No ClinGen
gnomAD
rs1390110643
CA367441440
117 E>D No ClinGen
gnomAD
CA4249616
rs749453265
118 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA367441441
rs777838279
118 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs777838279
CA4249615
118 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1029772778
CA158013949
120 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1029772778
CA158013947
120 S>T No ClinGen
Ensembl
CA4249618
rs531101667
121 P>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA367441476
rs1399209964
121 P>S No ClinGen
gnomAD
rs1342089911
CA367441495
122 E>D No ClinGen
gnomAD
rs1016874043
CA158013962
125 E>K No ClinGen
TOPMed
gnomAD
CA367441538
rs1283172493
126 S>N No ClinGen
gnomAD
CA4249619
COSM1243316
rs775473368
127 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA367441560
rs1437526404
128 E>A No ClinGen
TOPMed
TCGA novel 128 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775949573
CA4249621
129 I>V No ClinGen
ExAC
gnomAD
CA158013979
rs910135238
130 T>P No ClinGen
gnomAD
rs941595873
CA158013985
131 E>* No ClinGen
TOPMed
rs1216411756
CA367441604
132 E>K No ClinGen
gnomAD
CA4249622
rs747531500
133 E>D No ClinGen
ExAC
gnomAD
rs776999181
CA4249624
135 L>Q No ClinGen
ExAC
gnomAD
rs765781399
CA4249626
137 N>S No ClinGen
ExAC
gnomAD
CA158014002
rs539115833
139 H>L No ClinGen
Ensembl
rs759147038
CA4249628
141 M>T No ClinGen
ExAC
gnomAD
rs1409401742
CA367441747
143 P>S No ClinGen
gnomAD
CA367441764
rs1308828636
144 S>F No ClinGen
gnomAD
CA4249629
rs767318856
144 S>T No ClinGen
ExAC
gnomAD
rs755900621
CA4249631
145 E>* No ClinGen
ExAC
gnomAD
rs138105891
CA4249632
148 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA158014029
rs949807893
148 H>Y No ClinGen
Ensembl
rs753700859
CA4249633
149 S>Y No ClinGen
ExAC
gnomAD
CA158014043
rs868069218
151 L>I No ClinGen
Ensembl
CA158014065
rs17854947
151 L>P No ClinGen
Ensembl
CA4249635
rs9658209
153 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4249636
rs566229997
154 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758636859
CA4249637
154 A>V No ClinGen
ExAC
gnomAD
TCGA novel 156 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367441911
rs1284427013
156 S>N No ClinGen
gnomAD
rs1356358036
CA367441930
157 T>I No ClinGen
TOPMed
gnomAD
CA4249638
COSM1210366
rs552821872
158 Y>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs1255783346
CA367441972
160 G>V No ClinGen
gnomAD
CA4249639
rs368245176
161 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4249641
rs781746463
162 K>E No ClinGen
ExAC
gnomAD
rs752223172
CA367442008
163 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs752223172
CA4249642
163 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1205490817
CA367442036
166 V>I No ClinGen
gnomAD
TCGA novel 168 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs546971229
CA4249643
169 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4249644
rs773682817
170 K>R No ClinGen
ExAC
gnomAD
TCGA novel 171 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4249663
rs778342842
CA4249664
174 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA367442207
rs1463639023
174 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760281769
CA4249666
175 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA4249667
rs760281769
175 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs768523904
CA4249665
175 P>T No ClinGen
ExAC
gnomAD
rs1473391802
CA367442237
176 C>* No ClinGen
TOPMed
CA4249668
rs776233561
177 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369196046
CA4249669
COSM281874
177 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs948759128
CA158014688
178 I>T No ClinGen
gnomAD
CA4249672
rs763174847
182 R>G No ClinGen
ExAC
gnomAD
rs1065782
VAR_011905
CA4249673
183 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs146202574
COSM3765352
CA4249675
184 V>I central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146202574
CA367442317
184 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367442322
rs1430137720
185 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1199838569
CA367442341
186 S>N No ClinGen
gnomAD
rs1434754969
CA367442336
186 S>R No ClinGen
gnomAD
CA367442355
rs1331427952
187 L>S No ClinGen
TOPMed
CA158014703
rs759646065
188 A>T No ClinGen
Ensembl
rs767935469
CA4249676
191 Q>P No ClinGen
ExAC
gnomAD
rs1476647274
CA367442422
193 T>A No ClinGen
TOPMed
gnomAD
rs974487740
CA158014706
193 T>I No ClinGen
TOPMed
CA367442421
rs1476647274
193 T>S No ClinGen
TOPMed
gnomAD
rs756491869
CA4249678
194 S>P No ClinGen
ExAC
gnomAD
CA367442445
rs1389200541
195 G>R No ClinGen
gnomAD
CA158014714
rs752931809
196 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 197 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA158014716
rs763075160
197 E>D No ClinGen
Ensembl
TCGA novel 197 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA158014718
rs1053533634
199 S>A No ClinGen
Ensembl
TCGA novel 199 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 200 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367442534
rs1284303624
202 Y>S No ClinGen
gnomAD
rs1445915852
CA367442545
203 L>P No ClinGen
gnomAD
CA4249681
rs757935661
203 L>V No ClinGen
ExAC
gnomAD
rs1321034000
CA367442558
204 P>L No ClinGen
TOPMed
CA4249682
rs369361373
204 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369361373
CA4249683
204 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1011797601
CA158014728
206 C>S No ClinGen
Ensembl
TCGA novel 208 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367442615
rs1244148125
209 N>D No ClinGen
gnomAD
rs1458636725
CA367442631
210 G>* No ClinGen
TOPMed
rs747950009
CA4249686
212 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4249687
rs769609357
214 S>N Variant assessed as Somatic; 0.0003236 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1487147268
CA367442697
215 R>K No ClinGen
gnomAD
TCGA novel 218 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs117054298
CA4249705
218 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773089001
CA4249706
220 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1386183199
CA367443128
221 M>T No ClinGen
TOPMed
rs201339143
CA4249707
223 G>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 224 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367443175
rs1453446235
225 A>E No ClinGen
TOPMed
gnomAD
rs774337911
CA4249709
227 L>P No ClinGen
ExAC
gnomAD
CA158015103
rs905081489
229 W>* No ClinGen
Ensembl
rs1242126188
CA367443225
229 W>L No ClinGen
gnomAD
CA4249710
rs759586433
230 C>Y No ClinGen
ExAC
gnomAD
rs370766303
CA4249712
231 V>I Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760906614
CA4249714
237 K>R No ClinGen
ExAC
gnomAD
rs764456292
CA4249715
240 P>R No ClinGen
ExAC
gnomAD
rs956735181
CA158015128
241 G>E No ClinGen
TOPMed
CA367443370
rs956735181
241 G>V No ClinGen
TOPMed
rs1179398441
CA367443381
242 S>F No ClinGen
gnomAD
rs1562574065
CA367443372
242 S>T No ClinGen
Ensembl
CA4249717
rs762162861
243 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs762162861
CA367443384
243 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4249718
rs141120529
244 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1562574071
CA367443413
246 R>G No ClinGen
Ensembl
rs754485600
CA4249721
247 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA367443443
rs1583661895
248 D>A No ClinGen
Ensembl
CA367443448
rs1470382164
248 D>E No ClinGen
gnomAD
TCGA novel 249 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375166026
CA4249723
250 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780713458
CA4249722
250 N>S No ClinGen
ExAC
TOPMed
TCGA novel 251 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA158015151
rs1020324299
251 C>Y No ClinGen
Ensembl
CA367443499
COSM341493
rs1209674213
252 Q>H lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA4249724
VAR_003821
rs4619
253 I>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA367443509
rs1331292020
253 I>T No ClinGen
TOPMed
rs531622833
CA367443551
256 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1331567482
CA367443560
257 V>A No ClinGen
TOPMed
rs770829397
CA4249727
258 Q>* No ClinGen
ExAC
gnomAD
rs778759405
CA4249728
260 N>R No ClinGen
ExAC
gnomAD

No associated diseases with P08833

3 regional properties for P08833

Type Name Position InterPro Accession
domain Thyroglobulin type-1 173 - 255 IPR000716
domain Insulin-like growth factor-binding protein, IGFBP 22 - 107 IPR000867
conserved_site Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site 56 - 71 IPR017891

Functions

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

4 GO annotations of cellular component

Name Definition
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.
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.

4 GO annotations of molecular function

Name Definition
insulin-like growth factor binding Binding to an insulin-like growth factor, any member of a group of polypeptides that are structurally homologous to insulin and share many of its biological activities, but are immunologically distinct from it.
insulin-like growth factor I binding Binding to insulin-like growth factor I.
insulin-like growth factor II binding Binding to insulin-like growth factor II.
signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

8 GO annotations of biological process

Name Definition
insulin receptor signaling pathway The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
multicellular organism aging An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700).
negative regulation of canonical Wnt signaling pathway Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of cell growth Any process that activates or increases the frequency, rate, extent or direction of cell growth.
regulation of insulin-like growth factor receptor signaling pathway Any process that modulates the frequency, rate or extent of insulin-like growth factor receptor signaling.
response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.
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.
tissue regeneration The regrowth of lost or destroyed tissues.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MSEVPVARVW LVLLLLTVQV GVTAGAPWQC APCSAEKLAL CPPVSASCSE VTRSAGCGCC
70 80 90 100 110 120
PMCALPLGAA CGVATARCAR GLSCRALPGE QQPLHALTRG QGACVQESDA SAPHAAEAGS
130 140 150 160 170 180
PESPESTEIT EEELLDNFHL MAPSEEDHSI LWDAISTYDG SKALHVTNIK KWKEPCRIEL
190 200 210 220 230 240
YRVVESLAKA QETSGEEISK FYLPNCNKNG FYHSRQCETS MDGEAGLCWC VYPWNGKRIP
250
GSPEIRGDPN CQIYFNVQN