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 Q8NEM2

Entry ID Method Resolution Chain Position Source
AF-Q8NEM2-F1 Predicted AlphaFoldDB

515 variants for Q8NEM2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA396090380
rs1218092183
2 A>S No ClinGen
gnomAD
rs767753286
CA8036546
3 D>N No ClinGen
ExAC
gnomAD
rs759988033
CA396090368
4 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8036545
rs759988033
4 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774802723
CA396090361
5 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs774802723
CA8036544
5 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs774802723
CA396090360
5 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1567457394
CA396090357
6 L>Q No ClinGen
Ensembl
rs1298508955
CA396090359
6 L>V No ClinGen
gnomAD
CA396090349
rs1226469453
7 T>M No ClinGen
gnomAD
CA396090350
rs1226469453
7 T>R No ClinGen
gnomAD
CA396090339
rs1320223317
9 G>D No ClinGen
gnomAD
rs1262847028
CA720990767
9 G>R No ClinGen
TOPMed
rs1320223317
CA396090337
9 G>V No ClinGen
gnomAD
TCGA novel 10 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036540
rs776119732
10 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA396090336
rs1363863229
10 G>S No ClinGen
TOPMed
gnomAD
CA280431902
rs776119732
10 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA8036539
rs768274909
11 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8036537
rs144267302
13 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475298663
CA396090320
13 A>T No ClinGen
gnomAD
CA8036536
rs144267302
13 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396090315
rs1472538193
14 A>P No ClinGen
TOPMed
gnomAD
CA8036533
rs553357867
14 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA280431828
rs140408371
15 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8036532
rs140408371
15 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396090304
rs1222619858
CA396090302
16 M>I No ClinGen
TOPMed
gnomAD
rs995656608
CA280431805
16 M>K No ClinGen
TOPMed
CA8036530
rs147549440
CA8036531
16 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036529
rs147549440
16 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1452938789
CA396090301
17 A>T No ClinGen
gnomAD
CA8036528
rs752832808
17 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs755251087
CA8036526
18 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs767814496
CA8036527
18 P>S No ClinGen
ExAC
gnomAD
CA396090292
rs1221655735
19 E>K No ClinGen
gnomAD
CA396090279
rs1253822791
20 R>L No ClinGen
gnomAD
CA280431788
rs17856883
CA8036523
21 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA8036525
rs6598679
21 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8036524
VAR_051354
rs6598679
21 M>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8036522
rs773761609
23 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA8036521
rs763486870
24 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1435669827
CA396090250
25 V>A No ClinGen
TOPMed
rs1397701103
CA396090252
25 V>L No ClinGen
gnomAD
CA396090242
rs1483750245
26 E>D No ClinGen
TOPMed
rs1468651839
CA396090245
26 E>G No ClinGen
TOPMed
gnomAD
CA280431772
rs1008703403
26 E>K No ClinGen
TOPMed
CA8036519
rs377365467
27 Q>E No ClinGen
ESP
ExAC
gnomAD
CA8036518
rs377365467
27 Q>K No ClinGen
ESP
ExAC
gnomAD
rs1199428685
CA396090239
27 Q>R No ClinGen
gnomAD
CA8036517
rs745599323
28 E>* No ClinGen
ExAC
gnomAD
CA280431760
rs111694311
28 E>G No ClinGen
Ensembl
CA396090235
rs745599323
28 E>K No ClinGen
ExAC
gnomAD
CA396090234
rs745599323
28 E>Q No ClinGen
ExAC
gnomAD
CA8036516
rs774284933
29 L>V No ClinGen
ExAC
gnomAD
rs770908710
CA8036515
32 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA396090205
rs1259809039
33 E>G No ClinGen
gnomAD
CA280430245
rs78630461
35 G>V No ClinGen
Ensembl
rs79790675
CA280430239
36 L>F No ClinGen
Ensembl
CA280430236
rs980745275
37 F>L No ClinGen
TOPMed
rs781332172
CA8036488
41 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs896409342
CA280430235
41 D>V No ClinGen
Ensembl
TCGA novel 43 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs992649575
CA280430211
44 S>G No ClinGen
TOPMed
gnomAD
rs758719965
CA280430209
46 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA8036485
rs780292870
46 C>G No ClinGen
ExAC
gnomAD
rs780292870
CA8036486
46 C>R No ClinGen
ExAC
gnomAD
CA8036484
rs758719965
46 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8036483
rs750821378
49 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1381765742
CA396090077
49 R>H No ClinGen
gnomAD
CA396090078
rs750821378
49 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs779228165
CA8036482
52 P>T No ClinGen
ExAC
gnomAD
CA8036481
RCV000894223
rs76534624
54 S>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8036479
rs139554699
60 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036480
rs11545690
VAR_051355
60 M>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1462446634
CA396089991
61 P>L No ClinGen
TOPMed
CA8036477
rs751217741
64 K>E No ClinGen
ExAC
gnomAD
CA280430195
rs201984083
64 K>R No ClinGen
1000Genomes
CA8036476
rs568809430
65 T>S No ClinGen
1000Genomes
ExAC
rs762780620
CA8036474
66 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs146004470
CA8036473
67 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1488694147
CA396089946
68 P>L No ClinGen
gnomAD
rs1288424865
CA396089945
69 E>K No ClinGen
gnomAD
rs1596692591
CA396089929
71 F>I No ClinGen
Ensembl
CA8036472
rs769546343
72 Q>H No ClinGen
ExAC
gnomAD
rs1184650492
CA396089917
72 Q>R No ClinGen
TOPMed
gnomAD
CA8036471
rs761792845
75 Q>K No ClinGen
ExAC
gnomAD
rs1432943783
CA396089892
76 L>F No ClinGen
TOPMed
CA280430168
rs945146766
79 Y>C No ClinGen
TOPMed
gnomAD
CA396089870
rs945146766
79 Y>S No ClinGen
TOPMed
gnomAD
CA8036468
rs747121194
81 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs772293350
CA8036467
81 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8036466
rs772293350
81 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA396089848
rs1423549063
83 R>G No ClinGen
gnomAD
TCGA novel 83 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396089837
rs1365840102
84 A>G No ClinGen
gnomAD
rs1253203446
CA396089841
84 A>T No ClinGen
TOPMed
CA8036464
rs200068397
85 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1426536565
CA396089824
86 Q>R No ClinGen
gnomAD
CA8036463
rs189131703
88 Y>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8036462
rs201168675
89 I>V No ClinGen
ExAC
TOPMed
TCGA novel 90 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201101866
CA8036444
91 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201101866
CA8036443
91 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1467075279
CA396089774
92 D>A No ClinGen
gnomAD
rs772205443
CA8036441
92 D>H No ClinGen
ExAC
gnomAD
rs772205443
CA8036442
92 D>N No ClinGen
ExAC
gnomAD
rs1291101706
CA396089765
93 C>Y No ClinGen
gnomAD
rs746080661
CA8036440
94 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA396089753
rs1240437635
95 A>P No ClinGen
TOPMed
CA280429564
rs992911878
97 E>D No ClinGen
TOPMed
gnomAD
rs369047561
CA8036438
99 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749639882
CA8036437
99 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA8036436
rs778369901
105 F>L No ClinGen
ExAC
gnomAD
CA8036434
rs748735561
106 L>S No ClinGen
ExAC
gnomAD
rs761201254
CA280429551
112 P>L No ClinGen
TOPMed
gnomAD
rs1324869949
CA396089627
114 G>R No ClinGen
TOPMed
CA396089615
rs1324168184
115 W>* No ClinGen
TOPMed
rs372268527
CA8036432
116 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3361767
CA8036433
rs779702179
116 R>W kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1045374791
CA280429530
117 A>V No ClinGen
TOPMed
rs1012470827
CA280429501
120 H>Y No ClinGen
TOPMed
rs1335642118
CA396089575
122 N>D No ClinGen
TOPMed
rs764826820
CA8036429
122 N>K No ClinGen
ExAC
gnomAD
CA396089546
rs757026436
126 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs757026436
CA8036427
126 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1446475231
CA396089541
127 L>V No ClinGen
TOPMed
rs1448725426
CA396089537
128 V>I No ClinGen
gnomAD
CA8036415
rs770344569
130 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA396089350
rs770344569
130 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA396089351
rs770344569
130 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs781773628
CA8036413
132 D>N No ClinGen
ExAC
gnomAD
CA8036412
rs368228161
133 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036411
rs142000194
137 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1304588863
CA396089280
140 A>V No ClinGen
gnomAD
rs1327299410
CA396089265
143 R>K No ClinGen
gnomAD
rs756862260
CA8036408
147 P>S No ClinGen
ExAC
gnomAD
CA396089240
rs756862260
147 P>T No ClinGen
ExAC
gnomAD
rs763862767
CA8036406
149 L>F No ClinGen
ExAC
gnomAD
CA396089227
rs763862767
149 L>V No ClinGen
ExAC
gnomAD
rs1258878832
CA396089202
152 S>C No ClinGen
gnomAD
rs1202797558
CA396089200
153 Q>K No ClinGen
gnomAD
rs1485293574
CA396089183
155 S>N No ClinGen
gnomAD
CA280428445
rs923258497
156 T>A No ClinGen
Ensembl
CA8036405
rs755951635
158 T>I No ClinGen
ExAC
gnomAD
TCGA novel 160 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036403
rs767379401
162 M>L No ClinGen
ExAC
gnomAD
CA8036402
rs759604344
162 M>T No ClinGen
ExAC
gnomAD
CA396089135
rs767379401
162 M>V No ClinGen
ExAC
gnomAD
CA8036401
rs774301993
164 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396089106
rs1380602301
166 L>F No ClinGen
gnomAD
rs1041021873
CA280428399
167 D>Y No ClinGen
Ensembl
rs942573950
CA280428388
168 L>V No ClinGen
TOPMed
gnomAD
rs928144028
CA280428385
170 E>Q No ClinGen
TOPMed
CA280428375
rs866698459
171 H>N No ClinGen
gnomAD
CA8036398
rs773621044
172 R>Q No ClinGen
ExAC
gnomAD
CA8036399
rs763257855
172 R>W No ClinGen
ExAC
gnomAD
CA396089057
rs1363980445
174 P>A No ClinGen
gnomAD
rs1363980445
CA396089056
174 P>S No ClinGen
gnomAD
CA280428356
rs113749182
177 E>G No ClinGen
Ensembl
rs1214960418
CA396089026
179 W>R No ClinGen
Ensembl
CA396089014
rs1596690645
180 V>G No ClinGen
Ensembl
CA280428353
rs146106817
180 V>M No ClinGen
ESP
rs1596690637
CA396089008
181 V>G No ClinGen
Ensembl
rs1477196441
CA396088992
183 D>E No ClinGen
gnomAD
rs777226287
CA8036395
185 S>A No ClinGen
ExAC
gnomAD
rs966837603
CA280428312
189 D>E No ClinGen
TOPMed
CA8036393
rs745308205
191 T>I No ClinGen
ExAC
gnomAD
rs952511681
CA280428287
195 I>M No ClinGen
gnomAD
CA8036392
rs367816466
195 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA280428272
rs867427829
199 R>I No ClinGen
Ensembl
CA8036381
rs750630198
202 Y>C No ClinGen
ExAC
gnomAD
CA396088838
rs34559393
204 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1438905489
CA396088836
205 I>V No ClinGen
TOPMed
CA396088824
rs1274461198
206 W>* No ClinGen
gnomAD
rs771517898
CA280423636
208 S>N No ClinGen
Ensembl
CA396088790
rs1338828662
211 E>K No ClinGen
TOPMed
TCGA novel 212 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036379
rs143807959
215 D>Y No ClinGen
ESP
ExAC
gnomAD
rs776862098
CA8036378
216 E>K No ClinGen
ExAC
gnomAD
CA396088742
rs1260534560
217 Y>D No ClinGen
TOPMed
CA396088743
rs1260534560
217 Y>H No ClinGen
TOPMed
CA8036376
rs761071900
218 D>N No ClinGen
ExAC
gnomAD
CA8036374
rs376538138
221 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036373
rs376538138
221 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776113874
CA8036375
221 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA396088702
rs1200594001
223 C>R No ClinGen
TOPMed
rs769443227
CA8036371
223 C>S No ClinGen
ExAC
gnomAD
CA280423547
rs747865264
226 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8036370
rs747865264
226 P>R No ClinGen
ExAC
TOPMed
gnomAD
COSM970757
rs780839550
CA8036369
227 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1458095374
CA396088663
229 R>I No ClinGen
gnomAD
rs1406415052
CA396088635
231 H>R No ClinGen
TOPMed
CA396088627
rs1472385994
232 Y>C No ClinGen
gnomAD
CA396088630
rs1397251298
232 Y>H No ClinGen
TOPMed
rs762124697
CA8036360
234 I>T No ClinGen
ExAC
CA8036359
rs749245057
236 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs370810038
CA280421191
237 D>E No ClinGen
ESP
TOPMed
CA8036358
rs764345009
238 R>* Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8036357
rs761142529
238 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8036356
rs775811918
244 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1222710736
CA396088549
245 V>I No ClinGen
TOPMed
rs768024463
CA8036355
246 D>H No ClinGen
ExAC
gnomAD
rs1263961580
CA396088536
247 Y>H No ClinGen
TOPMed
CA396088529
rs1379008591
248 H>N No ClinGen
gnomAD
CA396088527
rs1379008591
248 H>Y No ClinGen
gnomAD
CA280421176
rs777927592
249 N>H No ClinGen
Ensembl
CA8036353
rs772703007
249 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs769349334
CA8036352
250 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8036351
rs747730910
254 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA8036350
rs776383201
256 E>G No ClinGen
ExAC
gnomAD
CA396088473
rs1297179923
256 E>K No ClinGen
gnomAD
rs1161372409
CA396088448
259 R>M No ClinGen
gnomAD
TCGA novel 260 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396088421
rs1423088335
263 N>D No ClinGen
gnomAD
CA396088417
rs1414439853
263 N>I No ClinGen
gnomAD
CA396088406
rs1438840438
265 R>T No ClinGen
TOPMed
CA396088376
rs1183567100
269 S>* No ClinGen
gnomAD
CA280421152
rs961348785
270 N>D No ClinGen
TOPMed
CA396088354
rs1473804082
272 N>S No ClinGen
gnomAD
CA396088346
rs1267462296
273 S>C No ClinGen
TOPMed
rs1221524765
CA396088330
276 E>K No ClinGen
TOPMed
rs1396748438
CA396088314
278 E>K No ClinGen
gnomAD
rs1021341991
CA280421092
281 S>P No ClinGen
Ensembl
rs373701887
CA8036345
282 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1219814107
CA396088277
283 V>M No ClinGen
gnomAD
TCGA novel 285 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291182534
CA396088256
286 L>* No ClinGen
gnomAD
rs1339131551
CA396088231
289 Y>F No ClinGen
TOPMed
gnomAD
rs138864591
CA8036343
290 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1341969352
CA396088214
292 M>V No ClinGen
gnomAD
CA8036341
rs201494848
293 E>* No ClinGen
1000Genomes
ExAC
gnomAD
CA396088205
rs201494848
293 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs764408135
CA280421027
294 Q>L No ClinGen
ExAC
gnomAD
rs764408135
CA8036340
294 Q>R No ClinGen
ExAC
gnomAD
CA396088186
rs1199996970
296 K>Q No ClinGen
gnomAD
rs756375959
CA396088177
297 Q>* No ClinGen
ExAC
gnomAD
rs756375959
CA8036339
297 Q>E No ClinGen
ExAC
gnomAD
rs1030134493
CA280421009
298 K>R No ClinGen
TOPMed
rs1030134493
CA396088168
298 K>T No ClinGen
TOPMed
rs753109291
CA8036338
301 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs753109291
CA396088150
301 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA396088143
rs1481360533
302 I>T No ClinGen
TOPMed
gnomAD
CA396088136
rs1251024992
303 E>A No ClinGen
TOPMed
TCGA novel 304 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767934484
CA8036337
306 L>S No ClinGen
ExAC
gnomAD
CA8036336
rs760020240
307 L>M No ClinGen
ExAC
gnomAD
CA396088071
rs1238069557
311 F>I No ClinGen
gnomAD
rs868729387
CA280420858
312 G>D No ClinGen
Ensembl
CA8036317
rs752918531
313 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 314 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396088036
rs1359270924
315 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA396088006
rs1567449509
320 Q>K No ClinGen
Ensembl
CA396088002
rs1253701419
320 Q>R No ClinGen
gnomAD
CA396087998
rs1231898743
321 A>T No ClinGen
gnomAD
CA396087973
rs1223905190
324 V>G No ClinGen
TOPMed
CA8036316
rs767842642
COSM1377940
325 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375185810
CA8036315
327 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766889570
COSM241600
CA8036313
328 G>S prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1051810165
CA280420833
331 I>L No ClinGen
TOPMed
rs199914265
CA280420828
332 T>I No ClinGen
Ensembl
CA396087917
rs1449729753
333 H>L No ClinGen
TOPMed
rs201568619
CA8036311
337 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396087865
rs1448842558
341 A>S No ClinGen
gnomAD
CA396087857
rs1337905276
342 G>A No ClinGen
TOPMed
gnomAD
CA396087853
rs1400022590
343 L>I No ClinGen
gnomAD
rs200589685
CA8036308
345 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763581676
CA8036309
345 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 347 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036306
rs771963584
348 L>V No ClinGen
ExAC
TOPMed
gnomAD
COSM3420993
rs199982006
CA8036305
349 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
rs538774624
CA8036304
351 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA396087807
rs1254704041
351 R>S No ClinGen
gnomAD
CA396087806
rs1383010372
352 L>I No ClinGen
Ensembl
CA8036303
rs770906199
353 C>F No ClinGen
ExAC
gnomAD
CA396087799
rs1199375603
353 C>R No ClinGen
TOPMed
gnomAD
rs376727147
CA8036302
354 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036301
rs369036517
354 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396087783
rs1309666717
355 E>A No ClinGen
gnomAD
CA8036300
rs199576557
355 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA280420706
rs969691104
356 P>L No ClinGen
TOPMed
gnomAD
CA280420703
rs1022670170
357 G>S No ClinGen
TOPMed
CA396087771
COSM3667854
rs1338611903
357 G>V liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1311999344
CA396087752
360 E>* No ClinGen
gnomAD
CA8036299
rs748335934
364 Q>R No ClinGen
ExAC
gnomAD
CA8036280
rs769874421
366 H>R No ClinGen
ExAC
gnomAD
rs1194937551
CA396087688
367 S>G No ClinGen
TOPMed
gnomAD
rs1244043761
CA396087686
367 S>N No ClinGen
gnomAD
rs781330593
CA8036278
367 S>R No ClinGen
ExAC
gnomAD
CA396087672
rs1478266017
369 P>S No ClinGen
TOPMed
rs1417686529
CA396087665
370 L>S No ClinGen
TOPMed
rs768875072
CA8036277
372 A>V No ClinGen
ExAC
gnomAD
rs147585883
CA8036276
373 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396087635
rs1169329116
375 A>T No ClinGen
TOPMed
CA396087620
rs1256146680
377 F>L No ClinGen
gnomAD
CA396087615
rs758741836
377 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA8036273
rs750913417
378 E>K No ClinGen
ExAC
gnomAD
CA280420369
rs771133626
380 D>E No ClinGen
Ensembl
rs1350807479
CA396087593
381 T>A No ClinGen
TOPMed
CA8036272
rs779320266
382 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 383 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280420349
rs1055421432
385 C>* No ClinGen
Ensembl
CA280420331
rs140069841
387 G>A No ClinGen
ESP
TOPMed
gnomAD
CA396087553
rs140069841
387 G>D No ClinGen
ESP
TOPMed
gnomAD
rs752268440
CA8036270
388 H>P No ClinGen
ExAC
gnomAD
rs752268440
CA8036271
388 H>R No ClinGen
ExAC
gnomAD
CA280420325
rs749439950
390 V>A No ClinGen
Ensembl
CA8036268
rs754663698
390 V>M No ClinGen
ExAC
gnomAD
rs1329956842
CA396087534
391 V>I No ClinGen
gnomAD
rs1329956842
CA396087533
391 V>L No ClinGen
gnomAD
CA396087524
rs1464625670
392 H>R No ClinGen
gnomAD
rs1220132313
CA396087517
393 G>D No ClinGen
TOPMed
rs1344169223
CA396087518
393 G>S No ClinGen
TOPMed
CA396087513
rs1353226629
394 T>A No ClinGen
TOPMed
gnomAD
CA280420324
rs968834473
396 S>T No ClinGen
TOPMed
rs766166114
CA8036266
396 S>Y No ClinGen
ExAC
gnomAD
CA396087463
rs1169174640
401 I>M No ClinGen
gnomAD
rs762684042
CA8036265
402 E>G No ClinGen
ExAC
gnomAD
CA280418226
rs1015227821
407 G>C No ClinGen
gnomAD
TCGA novel 408 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1239891587
CA396087398
409 P>L No ClinGen
gnomAD
rs761730635
CA8036243
410 D>G No ClinGen
ExAC
gnomAD
rs1461560245
CA396087396
410 D>H No ClinGen
TOPMed
CA280418209
rs907424955
411 D>G No ClinGen
gnomAD
CA280418213
rs1003144200
411 D>N No ClinGen
TOPMed
gnomAD
CA8036242
rs776601536
412 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1334272718
CA396087378
413 V>M No ClinGen
gnomAD
rs1436155579
CA396087370
414 I>L No ClinGen
gnomAD
rs1429707771
CA396087357
416 K>Q No ClinGen
TOPMed
CA8036240
CA396087344
rs200482042
417 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8036239
rs373336645
418 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 419 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1420142921
CA396087325
420 G>V No ClinGen
gnomAD
CA280418145
rs376160881
COSM471731
421 D>N kidney [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
rs1230109797
CA396087305
423 F>L No ClinGen
TOPMed
CA8036237
rs746177302
424 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs774564825
CA8036236
428 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396087275
rs1236933520
428 G>R No ClinGen
TOPMed
gnomAD
rs771471109
CA8036235
429 A>V No ClinGen
ExAC
gnomAD
CA8036234
rs749780017
430 D>N No ClinGen
ExAC
gnomAD
CA396087266
rs749780017
430 D>Y No ClinGen
ExAC
gnomAD
rs1317941657
CA396087257
431 I>F No ClinGen
TOPMed
gnomAD
rs1286930287
CA396087253
431 I>M No ClinGen
gnomAD
CA8036233
rs778453932
433 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs746511129
CA396087235
434 S>* No ClinGen
ExAC
gnomAD
CA8036231
rs746511129
434 S>L No ClinGen
ExAC
gnomAD
rs1337949733
CA396087231
435 G>D No ClinGen
gnomAD
CA280418109
rs151148850
435 G>S No ClinGen
ESP
TOPMed
gnomAD
rs1596678971
CA396087210
438 F>S No ClinGen
Ensembl
CA396087199
rs1400355591
440 Q>K No ClinGen
gnomAD
rs757985863
CA8036229
441 H>Y No ClinGen
ExAC
gnomAD
CA396087178
rs1475210675
442 D>E No ClinGen
TOPMed
CA8036228
rs142201278
442 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778659019
CA8036227
443 A>V No ClinGen
ExAC
gnomAD
rs1165731573
CA396087171
444 V>L No ClinGen
TOPMed
gnomAD
rs373935568
CA8036226
445 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036225
rs753737111
446 G>R No ClinGen
ExAC
gnomAD
CA396087124
rs1450877803
449 I>T No ClinGen
TOPMed
rs759691750
CA8036200
450 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8036199
rs751782063
452 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8036198
rs766719161
452 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 452 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036197
rs763340134
454 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA280414798
rs926930869
456 T>A No ClinGen
gnomAD
rs773704460
CA8036196
456 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs770254582
CA8036195
457 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs202030254
CA280414776
458 E>K No ClinGen
Ensembl
rs1567445493
CA396087069
459 N>D No ClinGen
Ensembl
rs762208281
CA8036194
460 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1356492731
CA396087055
461 V>M No ClinGen
gnomAD
CA8036191
rs745407076
468 G>R No ClinGen
ExAC
gnomAD
CA8036190
rs778481033
469 V>I No ClinGen
ExAC
gnomAD
TCGA novel 471 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036189
rs535052871
472 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1177268431
CA396086985
472 R>W No ClinGen
TOPMed
gnomAD
CA396086971
rs1253862222
474 S>L No ClinGen
gnomAD
rs777521264
CA8036187
477 F>L No ClinGen
ExAC
gnomAD
CA396086948
rs1596675875
478 L>V No ClinGen
Ensembl
CA280414735
rs369921811
480 K>M No ClinGen
ESP
TOPMed
gnomAD
rs372325367
CA280414720
480 K>N No ClinGen
ESP
TOPMed
gnomAD
CA280414734
rs369921811
480 K>R No ClinGen
ESP
TOPMed
gnomAD
rs1009622540
CA396086927
481 N>S No ClinGen
gnomAD
rs1009622540
CA280414714
481 N>T No ClinGen
gnomAD
rs777914584
CA280414706
482 S>L No ClinGen
TOPMed
gnomAD
CA8036185
rs747993306
485 Y>C No ClinGen
ExAC
gnomAD
rs756162190
COSM189213
CA8036183
487 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751692076
CA8036182
488 K>* No ClinGen
ExAC
gnomAD
TCGA novel 488 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036162
rs758593884
489 G>D No ClinGen
ExAC
gnomAD
CA8036161
rs750638471
490 A>T No ClinGen
ExAC
gnomAD
rs1191130374
CA396086856
490 A>V No ClinGen
gnomAD
CA396086853
rs1446093064
491 G>C No ClinGen
gnomAD
TCGA novel 491 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765522953
CA8036160
492 I>V No ClinGen
ExAC
gnomAD
rs1206683338
CA396086834
494 I>V No ClinGen
gnomAD
rs757507035
CA8036159
497 G>W No ClinGen
ExAC
rs754235384
CA8036157
498 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs754235384
CA396086809
498 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA8036156
rs764435122
498 S>N No ClinGen
ExAC
gnomAD
CA280407710
rs764435122
498 S>T No ClinGen
ExAC
gnomAD
CA8036154
rs776015484
499 Q>* No ClinGen
ExAC
gnomAD
CA396086793
rs1386150288
500 C>R No ClinGen
TOPMed
CA396086784
rs1326079025
501 T>S No ClinGen
gnomAD
TCGA novel 502 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280407704
COSM970751
rs890860367
504 D>E endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1353002440
CA396086761
504 D>V No ClinGen
TOPMed
TCGA novel 505 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396086753
rs772681234
505 N>K No ClinGen
ExAC
gnomAD
rs375325538
COSM4129077
CA8036149
506 G>E thyroid [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs769488772
CA8036150
506 G>R No ClinGen
ExAC
gnomAD
rs1474841592
CA396086741
507 I>S No ClinGen
gnomAD
rs367554354
CA8036147
508 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746914623
CA8036146
509 H>Y No ClinGen
ExAC
gnomAD
rs566050581
CA8036143
514 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8036142
rs745961632
516 I>F No ClinGen
ExAC
gnomAD
CA396086656
rs1373167560
518 D>N No ClinGen
TOPMed
rs1174006547
CA396086633
521 D>N No ClinGen
gnomAD
rs1467057527
CA396086622
522 E>G No ClinGen
TOPMed
rs1436399213
CA396086615
523 H>Y No ClinGen
gnomAD
CA396086606
rs1378398042
524 Y>C No ClinGen
gnomAD
CA280407556
rs889997673
524 Y>H No ClinGen
TOPMed
TCGA novel 525 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280407525
rs1050309727
528 K>N No ClinGen
TOPMed
gnomAD
CA396086574
rs1184110531
529 I>L No ClinGen
gnomAD
rs772141428
CA8036125
531 M>V No ClinGen
ExAC
gnomAD
CA396086548
rs1360082124
532 V>G No ClinGen
TOPMed
CA396086528
rs1223654447
535 I>T No ClinGen
TOPMed
gnomAD
rs779039839
CA8036123
535 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 536 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396086521
rs1320179213
536 I>T No ClinGen
TOPMed
CA396086524
rs1352076690
536 I>V No ClinGen
gnomAD
CA396086506
rs1280738468
538 N>S No ClinGen
gnomAD
CA396086498
rs1412437688
539 N>S No ClinGen
gnomAD
CA396086488
rs1352212111
540 E>D No ClinGen
Ensembl
CA8036122
rs770967098
541 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8036121
rs749485656
544 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA280407486
rs940026008
549 P>L No ClinGen
TOPMed
gnomAD
CA396086429
rs1410140284
550 T>A No ClinGen
gnomAD
rs1453666822
CA396086427
550 T>I No ClinGen
Ensembl
rs781600425
CA8036117
551 I>T No ClinGen
ExAC
gnomAD
rs753064628
CA8036118
551 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1417402433
CA396086401
554 D>G No ClinGen
gnomAD
CA396086380
rs1281252386
557 E>G No ClinGen
gnomAD
rs17856884
CA280407479
558 N>S No ClinGen
Ensembl
rs546451151
CA8036115
560 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA8036114
rs764770611
561 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA8036113
rs368639897
562 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396086343
rs1448059221
563 T>A No ClinGen
gnomAD
rs1215040098
CA396086294
568 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8036097
COSM970749
rs755336529
568 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8036095
rs780451306
570 K>E No ClinGen
ExAC
gnomAD
rs1363745752
CA396086258
573 T>K No ClinGen
gnomAD
rs1440030264
CA396086237
576 E>G No ClinGen
TOPMed
gnomAD
CA8036094
rs756738269
576 E>K No ClinGen
ExAC
gnomAD
rs1198855878
CA396086229
577 P>R No ClinGen
gnomAD
CA396086205
rs1432986828
581 E>K No ClinGen
TOPMed
CA280406971
rs1051754660
583 V>E No ClinGen
TOPMed
CA8036090
rs755815445
586 E>K No ClinGen
ExAC
gnomAD
rs752448168
CA8036089
588 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs767390754
CA8036088
589 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA280406944
rs933949248
589 I>V No ClinGen
TOPMed
rs1376709716
CA396086146
590 E>Q No ClinGen
TOPMed
rs1445561242
CA396086125
593 T>A No ClinGen
TOPMed
rs759269642
CA8036087
597 E>* No ClinGen
ExAC
gnomAD
CA280406941
rs749239219
600 A>S No ClinGen
TOPMed
CA396086072
rs1454179094
600 A>V No ClinGen
gnomAD
rs1254228654
CA396086071
601 R>G No ClinGen
gnomAD
rs932581951
CA396086051
603 D>E No ClinGen
TOPMed
CA396086040
rs1277327601
605 S>F No ClinGen
TOPMed
rs774284671
CA8036086
605 S>T No ClinGen
ExAC
gnomAD
CA8036085
rs766231303
606 E>G No ClinGen
ExAC
gnomAD
CA8036084
rs763013061
607 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 607 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396086028
rs1204699990
607 Q>R No ClinGen
gnomAD
rs748336053
CA8036081
612 C>F No ClinGen
ExAC
gnomAD
rs779118681
CA280406922
612 C>G No ClinGen
Ensembl
rs748336053
CA396085994
612 C>Y No ClinGen
ExAC
gnomAD
CA396085980
rs1212236330
614 I>T No ClinGen
TOPMed
rs149596699
CA8036079
619 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036076
rs146732663
623 T>K No ClinGen
1000Genomes
ExAC
CA396085917
rs1372664014
624 Q>R No ClinGen
gnomAD
CA396085885
rs1260679769
628 I>M No ClinGen
TOPMed
gnomAD
rs909651992
CA280406902
628 I>T No ClinGen
Ensembl
CA280406900
rs965138116
629 K>R No ClinGen
TOPMed
TCGA novel 630 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777400573
CA8036073
633 L>* No ClinGen
ExAC
TOPMed
gnomAD
rs777400573
CA396085852
633 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1567440186
CA396085853
633 L>V No ClinGen
Ensembl
rs755727601
CA8036072
635 E>D No ClinGen
ExAC
gnomAD
CA8036071
rs138129923
636 L>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8036070
rs767089061
638 I>N No ClinGen
ExAC
gnomAD
CA396085820
rs767089061
638 I>S No ClinGen
ExAC
gnomAD
rs370886430
CA396085813
639 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8036069
rs370886430
639 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 639 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766254686
CA8036067
641 A>T No ClinGen
ExAC
gnomAD
CA8036066
rs762773714
642 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374314490
CA396085786
643 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1372390801
CA396085779
644 N>I No ClinGen
TOPMed
gnomAD
rs1372390801
CA396085780
644 N>S No ClinGen
TOPMed
gnomAD
CA396085761
CA396085763
rs1306317986
646 M>I No ClinGen
TOPMed
gnomAD
TCGA novel 646 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1316299714
CA396085768
646 M>V No ClinGen
gnomAD
rs150826364
CA8036064
647 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 647 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 650 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 651 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8036062
rs141549260
652 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396085704
rs1259771395
655 V>M No ClinGen
TOPMed
rs149710303
CA8036060
656 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8036058
rs775705546
663 G>V No ClinGen
ExAC
gnomAD
rs746348166
CA8036056
665 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs779597367
CA8036055
669 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA396085593
rs1175796484
670 F>L No ClinGen
TOPMed
gnomAD
rs1423484253
CA396085589
671 L>I No ClinGen
TOPMed
CA720978412
rs1466621953
672 F>T No ClinGen
TOPMed

No associated diseases with Q8NEM2

6 regional properties for Q8NEM2

Type Name Position InterPro Accession
repeat Parallel beta-helix repeat 428 - 451 IPR006626-1
repeat Parallel beta-helix repeat 452 - 473 IPR006626-2
repeat Parallel beta-helix repeat 474 - 496 IPR006626-3
repeat Parallel beta-helix repeat 497 - 518 IPR006626-4
repeat Parallel beta-helix repeat 526 - 548 IPR006626-5
domain Right handed beta helix domain 422 - 546 IPR039448

Functions

Description
EC Number
Subcellular Localization
  • Midbody
  • Cytoplasm, cytoskeleton, spindle
  • Displays weak localization to the spindle midzone in some early telophase cells and is concentrated at the midbody in late cytokinesis
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.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

1 GO annotations of molecular function

Name Definition
SH2 domain binding Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.

2 GO annotations of biological process

Name Definition
fibroblast growth factor receptor signaling pathway The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
regulation of neural precursor cell proliferation Any process that modulates the frequency, rate or extent of neural precursor cell proliferation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BZQ2 SHCBP1L Testicular spindle-associated protein SHCBP1L Homo sapiens (Human) PR
Q3TTP0 Shcbp1l Testicular spindle-associated protein SHCBP1L Mus musculus (Mouse) PR
10 20 30 40 50 60
MADGSLTGGG LEAAAMAPER MGWAVEQELA SLEKGLFQDE DSCSDCSYRD KPGSSLQSFM
70 80 90 100 110 120
PEGKTFFPEI FQTNQLLFYE RFRAYQDYIL ADCKASEVQE FTAEFLEKVL EPSGWRAVWH
130 140 150 160 170 180
TNVFKVLVEI TDVDFAALKA VVRLAEPYLC DSQVSTFTME CMKELLDLKE HRLPLQELWV
190 200 210 220 230 240
VFDDSGVFDQ TALAIEHVRF FYQNIWRSWD EEEEDEYDYF VRCVEPRLRL HYDILEDRVP
250 260 270 280 290 300
SGLIVDYHNL LSQCEESYRK FLNLRSSLSN CNSDSEQENI SMVEGLKLYS EMEQLKQKLK
310 320 330 340 350 360
LIENPLLRYV FGYQKNSNIQ AKGVRSSGQK ITHVVSSTMM AGLLRSLLTD RLCQEPGEEE
370 380 390 400 410 420
REIQFHSDPL SAINACFEGD TVIVCPGHYV VHGTFSIADS IELEGYGLPD DIVIEKRGKG
430 440 450 460 470 480
DTFVDCTGAD IKISGIKFVQ HDAVEGILIV HRGKTTLENC VLQCETTGVT VRTSAEFLMK
490 500 510 520 530 540
NSDLYGAKGA GIEIYPGSQC TLSDNGIHHC KEGILIKDFL DEHYDIPKIS MVNNIIHNNE
550 560 570 580 590 600
GYGVVLVKPT IFSDLQENAE DGTEENKALK IQTSGEPDVA ERVDLEELIE CATGKMELCA
610 620 630 640 650 660
RTDPSEQVEG NCEIVNELIA ASTQKGQIKK KRLSELGITQ ADDNLMSQEM FVGIVGNQFK
670
WNGKGSFGTF LF