Descriptions

MSN is a moesin protein and belongs to the ezrin-radixin-moesin (ERM) protein family, directly involved in the cytoskeleton-membrane crosslinking. Functional N-terminal FERM domain of ERM attaches to the membrane by binding specific membrane proteins while the last 34 residues of the C-terminal tail domain bind actin filaments. The autoinhibitory domain is positions at the C-terminal tail domain of ERM, where FERM domain of ERM is bound tightly via phosphotyrosine binding (PTB), pleckstrin homology (PH), and Enabled/VASP Homology 1 (EVH1) domains, thus masking the binding sites for other molecules. ERM is activated through phosphorylation at Thr558 weakening the FERM/tail binding and, unmasks the binding sites of membrane protein and actin filaments in the presence of phospholipids.

Autoinhibitory domains (AIDs)

Target domain

5-295 (FERM domain)

Relief mechanism

PTM

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P35241

Entry ID Method Resolution Chain Position Source
AF-P35241-F1 Predicted AlphaFoldDB

409 variants for P35241

Variant ID(s) Position Change Description Diseaes Association Provenance
rs770252893
RCV001102779
CA6270354
101 L>F Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000014074
rs121918380
CA256734
155 Q>* Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000778302
CA382868084
rs139960434
191 Y>* Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000339086
RCV001289164
CA6270267
rs146019940
201 Y>C Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000281752
CA10633388
rs150863373
279 R>L Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA229017469
RCV002223935
rs893826250
RCV000778301
304 Q>* Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV002522178
CA6270150
rs377016439
RCV000374116
350 R>H Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1463925107
RCV001262022
370 R>* Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinVar
dbSNP
rs146713867
RCV003165546
CA6270079
RCV001857751
RCV000218122
385 E>A Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs886047646
CA10637104
RCV000389591
399 A>T Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA183860
RCV000155954
rs572843421
RCV000922492
RCV002516139
428 I>V Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs727504709
RCV000155993
438 K>missing Rare genetic deafness [ClinVar] Yes ClinVar
dbSNP
RCV000014073
rs1372141763
469 A>missing Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinVar
dbSNP
CA6269982
RCV000332763
rs138560358
RCV002520671
471 P>A Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000037714
CA134769
RCV000275257
RCV000881421
rs74983220
496 A>V Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1864714177
RCV001107353
499 E>Q Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinVar
dbSNP
rs140180881
RCV002520670
CA6269961
RCV000367552
502 N>D Inborn genetic diseases Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199573785
CA6269954
RCV001107352
516 T>I Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
RCV001104608
rs1864709166
526 K>R Autosomal recessive nonsyndromic hearing loss 24 [ClinVar] Yes ClinVar
dbSNP
VAR_036859
RCV000014072
rs121918379
CA256733
578 D>N Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 24 DFNB24 [NCI-TCGA, ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
NCI-TCGA
dbSNP
gnomAD
rs763518071
CA6270454
2 P>L No ClinGen
ExAC
gnomAD
rs1180055130
CA382869801
3 K>E No ClinGen
gnomAD
CA229019664
rs940919907
5 I>M No ClinGen
TOPMed
gnomAD
CA6270424
rs749170461
5 I>N No ClinGen
ExAC
gnomAD
CA229019663
rs533324168
6 N>D No ClinGen
TOPMed
gnomAD
rs193206883
CA382869478
6 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777411187
CA6270423
6 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6270420
rs142539598
7 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142539598
CA6270421
CA382869476
7 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA382869458
rs1172573717
10 T>A No ClinGen
gnomAD
CA6270419
rs758795848
11 T>A No ClinGen
ExAC
gnomAD
CA229019661
rs975220280
12 M>V No ClinGen
Ensembl
rs1470002111
CA382869434
13 D>E No ClinGen
gnomAD
CA229019660
rs200152052
15 E>A No ClinGen
1000Genomes
CA382869396
rs1190229511
18 F>L No ClinGen
gnomAD
rs1484699609
CA382869384
19 A>G No ClinGen
TOPMed
gnomAD
rs1484699609
CA382869383
19 A>V No ClinGen
TOPMed
gnomAD
rs1412807538
CA382869375
20 I>T No ClinGen
TOPMed
CA382869362
rs1333330754
21 Q>H No ClinGen
TOPMed
gnomAD
rs1376600655
CA382869357
22 P>R No ClinGen
TOPMed
rs967856297
CA229019659
23 N>S No ClinGen
gnomAD
rs1217488325
CA382869341
24 T>K No ClinGen
TOPMed
gnomAD
CA229019658
rs745448124
26 G>D No ClinGen
Ensembl
CA229019657
rs570849275
27 K>R No ClinGen
Ensembl
CA382869281
rs1221853098
31 D>G No ClinGen
gnomAD
CA6270395
rs546913232
33 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1350793312
CA382869192
35 K>E No ClinGen
TOPMed
gnomAD
CA6270393
rs764655058
38 G>V No ClinGen
ExAC
gnomAD
CA6270392
rs756266812
40 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs771175890
CA6270390
40 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs771175890
CA6270391
RCV000608130
40 R>L No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs771175890
CA382869159
40 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA382869149
rs774408089
42 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA6270388
rs774408089
42 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1412883921
CA382869137
43 W>C No ClinGen
TOPMed
CA382869140
rs1371794483
43 W>L No ClinGen
TOPMed
rs766246489
CA6270387
45 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA382869106
rs1467025026
48 Q>R No ClinGen
gnomAD
CA6270386
rs201338088
49 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1199209715
CA382869094
50 V>I No ClinGen
gnomAD
rs1246719462
CA382869084
51 D>V No ClinGen
TOPMed
rs191491207
CA6270385
52 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
CA382869064
rs1268700666
54 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs769654968
CA6270384
54 G>V No ClinGen
ExAC
gnomAD
rs1026218136
CA229018654
56 S>C No ClinGen
Ensembl
CA382869052
rs1292861284
56 S>P No ClinGen
gnomAD
CA229018653
rs759999873
57 T>A No ClinGen
Ensembl
CA382869037
rs1184962249
58 W>* No ClinGen
Ensembl
rs12575547
CA229018652
61 L>V No ClinGen
Ensembl
CA229018651
rs997405742
62 N>H No ClinGen
Ensembl
CA382869005
rs1276316036
63 K>R No ClinGen
gnomAD
CA382868981
rs1171957975
65 V>I No ClinGen
gnomAD
CA382868979
rs1171957975
65 V>L No ClinGen
gnomAD
CA6270366
rs766473708
66 T>S No ClinGen
ExAC
gnomAD
rs903287405
CA229018595
67 Q>L No ClinGen
Ensembl
CA6270365
rs762814919
68 Q>H No ClinGen
ExAC
gnomAD
CA6270364
rs750130636
69 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA382868949
rs1420722740
70 V>I No ClinGen
gnomAD
CA229018594
rs928846227
71 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA229018593
rs1046298143
75 P>S No ClinGen
TOPMed
gnomAD
CA6270362
rs570197235
76 L>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1024390508
CA229018592
76 L>V No ClinGen
TOPMed
gnomAD
rs948868930
CA229018591
78 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1346670512
CA382868884
79 K>R No ClinGen
gnomAD
CA229018590
rs915988891
80 F>L No ClinGen
TOPMed
CA6270359
rs760060345
85 F>I No ClinGen
ExAC
TOPMed
gnomAD
RCV000219753
CA6270358
rs376418131
86 P>A No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1359079462
CA382868832
86 P>L No ClinGen
TOPMed
rs376418131
CA382868836
86 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs550717233
CA6270357
89 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs528974802
CA6270356
91 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA6270355
rs778347694
94 I>V No ClinGen
ExAC
gnomAD
rs748714954
CA6270353
101 L>R No ClinGen
ExAC
gnomAD
CA6270351
rs755117227
102 F>L No ClinGen
ExAC
gnomAD
CA382868706
rs758609386
105 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs758609386
CA6270348
105 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA6270349
rs758609386
105 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA382868673
rs1419991939
109 A>V No ClinGen
gnomAD
CA6270347
rs765061992
110 I>F No ClinGen
ExAC
gnomAD
CA6270346
rs765061992
110 I>V No ClinGen
ExAC
gnomAD
CA6270345
rs753800892
113 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA229018588
rs561699385
114 E>K No ClinGen
1000Genomes
CA229018587
rs919237920
115 I>M No ClinGen
TOPMed
gnomAD
rs763870351
CA6270343
116 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1229959067
CA382868622
117 C>Y No ClinGen
TOPMed
rs1210684516
CA382868596
121 T>A No ClinGen
TOPMed
CA382868591
rs1257568242
122 A>T No ClinGen
TOPMed
rs200090161
CA6270340
126 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA382868562
rs1188215593
126 A>V No ClinGen
TOPMed
rs1246038476
CA382868558
127 S>C No ClinGen
gnomAD
CA6270339
rs774125184
128 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs770307768
CA6270338
131 Q>H No ClinGen
ExAC
gnomAD
rs376337012
CA382868516
133 K>N No ClinGen
ESP
ExAC
gnomAD
CA6270335
rs768988858
134 Y>C No ClinGen
ExAC
gnomAD
CA6270336
rs777285617
134 Y>H No ClinGen
ExAC
gnomAD
rs1424460559
CA382868506
135 G>E No ClinGen
TOPMed
CA229018585
rs201598955
136 D>G No ClinGen
gnomAD
CA382868503
rs1384571095
136 D>N No ClinGen
TOPMed
gnomAD
rs1022001914
CA229018584
137 Y>C No ClinGen
TOPMed
rs190296143
CA6270334
138 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1396587120
CA382868454
142 H>R No ClinGen
gnomAD
CA6270333
rs780068896
143 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA382868439
rs1319544788
144 P>L No ClinGen
TOPMed
CA6270332
rs758479232
145 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA382868435
rs758479232
145 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs746106701
CA6270331
146 Y>H No ClinGen
ExAC
gnomAD
CA382868416
rs1194831380
148 A>V No ClinGen
gnomAD
CA229018583
rs892144169
149 N>T No ClinGen
TOPMed
rs1426337057
CA382868405
150 D>A No ClinGen
gnomAD
rs1426337057
CA382868404
150 D>G No ClinGen
gnomAD
CA229018582
rs1031071840
151 R>K No ClinGen
TOPMed
CA382868395
rs779065310
151 R>S No ClinGen
ExAC
gnomAD
CA382868389
rs1210797282
152 L>R No ClinGen
gnomAD
CA382868368
rs1213643220
156 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6270328
rs753570699
156 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1470753928
CA601962164
158 L>FK* No ClinGen
gnomAD
rs930558988
CA229017886
159 E>D No ClinGen
TOPMed
CA6270295
rs762764289
161 H>N No ClinGen
ExAC
CA6270294
rs772892808
162 K>R No ClinGen
ExAC
gnomAD
rs1180308372
CA382868297
164 T>I No ClinGen
gnomAD
CA6270293
rs761056787
165 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs761056787
CA6270292
165 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6270291
rs775863166
166 E>D No ClinGen
ExAC
gnomAD
rs772506958
CA6270290
167 Q>E No ClinGen
ExAC
gnomAD
CA229017885
rs532467334
167 Q>R No ClinGen
TOPMed
rs760022115
CA6270289
170 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1279952599
CA382868250
171 R>K No ClinGen
gnomAD
CA6270288
rs774479712
172 I>K No ClinGen
ExAC
gnomAD
rs1278022845
CA382868235
173 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA382868214
rs1236827750
176 H>N No ClinGen
gnomAD
CA6270287
rs770966763
176 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA382868207
rs1312933297
177 E>K No ClinGen
gnomAD
rs1373231261
CA382868190
179 H>D No ClinGen
gnomAD
CA382868165
rs1311898195
182 M>T No ClinGen
gnomAD
rs760956967
CA382868128
185 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA382868116
rs1167744965
187 S>A No ClinGen
gnomAD
RCV000595667
CA6270273
CA6270272
rs141888853
188 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
CA6270274
rs753162328
188 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs977975801
CA229017871
190 E>G No ClinGen
Ensembl
rs1395517131
CA382868062
195 A>T No ClinGen
TOPMed
CA382868052
rs1190745874
196 Q>R No ClinGen
gnomAD
CA382868043
rs1430107242
197 D>V No ClinGen
TOPMed
CA6270270
rs771021876
198 L>V No ClinGen
ExAC
gnomAD
rs763049581
CA6270269
200 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6270268
rs200979844
201 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA229017868
rs999025809
203 V>I No ClinGen
TOPMed
CA382868000
rs1270058032
204 N>S No ClinGen
TOPMed
CA6270266
rs748307983
208 I>V No ClinGen
ExAC
gnomAD
CA229017867
rs1033344762
209 K>R No ClinGen
TOPMed
CA6270264
rs768543778
211 K>R No ClinGen
ExAC
TOPMed
CA6270263
rs746996085
212 K>E No ClinGen
ExAC
gnomAD
CA6270261
rs757983014
217 W>G No ClinGen
ExAC
gnomAD
CA382867898
rs1591158664
218 L>P No ClinGen
Ensembl
rs1171207515
CA382867874
222 A>S No ClinGen
gnomAD
rs1256221880
CA382867860
224 G>D No ClinGen
TOPMed
CA382867858
rs1256221880
224 G>V No ClinGen
TOPMed
CA382867855
rs1417549341
225 L>P No ClinGen
gnomAD
CA6270256
rs767917915
226 N>S No ClinGen
ExAC
gnomAD
rs759844390
CA6270255
229 E>D No ClinGen
ExAC
gnomAD
CA382867820
rs1195313309
230 H>R No ClinGen
TOPMed
gnomAD
CA6270254
rs752091940
232 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6270230
rs759013014
235 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA229017605
rs1015257930
238 I>T No ClinGen
TOPMed
rs750867106
CA6270229
239 G>R No ClinGen
ExAC
gnomAD
rs1420781644
CA382867724
242 W>* No ClinGen
gnomAD
rs761754434
CA6270227
242 W>G No ClinGen
ExAC
gnomAD
CA6270226
rs776993573
243 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA6270225
rs764350321
248 I>T No ClinGen
ExAC
gnomAD
rs1475251489
CA382867668
250 F>L No ClinGen
gnomAD
rs1259104257
CA382867657
251 N>S No ClinGen
gnomAD
rs760963268
CA6270224
252 D>G No ClinGen
ExAC
gnomAD
rs760963268
CA382867649
252 D>V No ClinGen
ExAC
gnomAD
CA6270223
rs775489692
253 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1315647125
CA382867626
255 F>C No ClinGen
gnomAD
CA6270220
rs745866179
256 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs771731527
CA6270221
256 V>L No ClinGen
ExAC
gnomAD
CA6270218
rs770505660
259 P>S No ClinGen
ExAC
gnomAD
CA229017604
rs997759369
260 I>T No ClinGen
TOPMed
RCV000155275
RCV000766845
rs138116275
CA182496
260 I>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1386279803
CA382867591
261 D>A No ClinGen
gnomAD
rs1455213377
CA382867594
261 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
RCV000214012
rs201031650
CA6270214
264 A>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6270215
rs201031650
264 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs567486858
CA229017602
265 P>R No ClinGen
Ensembl
rs762865437
CA6270200
266 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs774350060
CA6270201
266 D>N No ClinGen
ExAC
gnomAD
rs762865437
CA6270199
266 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA382867517
rs1320616517
270 Y>H No ClinGen
TOPMed
CA382867508
rs1222145324
271 A>S No ClinGen
TOPMed
CA382867499
rs1415646714
272 P>L No ClinGen
gnomAD
CA382867504
rs1427063445
272 P>T No ClinGen
gnomAD
CA6270198
rs370869036
273 R>C No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs142346566
CA6270197
273 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA229017474
rs962472148
275 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA382867483
rs962472148
275 R>K No ClinGen
TOPMed
gnomAD
rs1238810329
CA382867474
276 I>S No ClinGen
TOPMed
CA6270196
rs367959168
277 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA382867460
rs1185421880
278 K>M No ClinGen
TOPMed
CA6270194
rs150863373
279 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6270195
rs17854426
279 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA382867454
rs1174111572
280 I>V No ClinGen
TOPMed
rs779319068
CA6270192
281 L>S No ClinGen
ExAC
gnomAD
CA382867438
rs1180466589
282 A>G No ClinGen
gnomAD
CA229017472
rs370138199
283 L>F No ClinGen
ESP
TOPMed
gnomAD
rs899794374
CA229017471
284 C>R No ClinGen
Ensembl
rs754363355
CA6270190
288 H>R No ClinGen
ExAC
gnomAD
CA382867386
rs1483135162
289 E>D No ClinGen
gnomAD
rs778047006
CA6270189
291 Y>H No ClinGen
ExAC
gnomAD
rs767569356
CA6270186
292 M>L No ClinGen
ExAC
gnomAD
rs767569356
CA6270187
292 M>V No ClinGen
ExAC
gnomAD
CA6270185
rs759389484
293 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6270184
rs147732690
297 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1174649339
CA382867326
299 T>A No ClinGen
gnomAD
CA6270183
rs766193519
299 T>N No ClinGen
ExAC
gnomAD
CA6270182
rs762920481
300 I>T No ClinGen
ExAC
rs1212547271
CA382867321
300 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs769318918
CA6270180
303 Q>P No ClinGen
ExAC
gnomAD
rs951352621
CA229017468
305 M>I No ClinGen
TOPMed
rs761276998
CA6270179
305 M>K No ClinGen
ExAC
gnomAD
CA382867268
rs1194199542
307 A>V No ClinGen
gnomAD
CA382867245
rs1482842876
311 E>Q No ClinGen
gnomAD
CA6270177
rs200709947
314 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA382867206
rs1283154489
316 K>E No ClinGen
TOPMed
CA229016779
rs983104500
322 Q>K No ClinGen
Ensembl
rs17854427
CA229016778
VAR_036857
328 K>E No ClinGen
UniProt
Ensembl
dbSNP
CA382867090
rs1565313533
329 K>N No ClinGen
Ensembl
rs576461351
CA6270164
329 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs533107164
CA6270162
RCV001562098
RCV000218314
332 I>T No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs761720838
CA6270161
333 A>T No ClinGen
ExAC
gnomAD
rs1237181088
CA382867057
334 E>V No ClinGen
gnomAD
rs776049009
CA6270159
336 E>G No ClinGen
ExAC
gnomAD
rs763659660
CA6270158
338 E>K No ClinGen
ExAC
gnomAD
CA382867014
rs1269884778
340 I>K No ClinGen
TOPMed
gnomAD
rs1472479600
CA382867011
340 I>M No ClinGen
TOPMed
rs1030064754
CA229016776
342 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs760305656
CA6270157
342 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1273246492
CA382866996
343 E>K No ClinGen
gnomAD
rs1565313478
CA382866990
344 K>Q No ClinGen
Ensembl
rs775152694
CA6270156
345 E>K No ClinGen
ExAC
gnomAD
RCV001358542
rs141462728
RCV000600590
CA6270155
346 E>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770471737
CA6270152
349 E>G No ClinGen
ExAC
gnomAD
CA6270153
rs773878373
349 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs748656504
CA6270151
350 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6270149
rs747206359
354 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1415001942
CA382866916
355 E>Q No ClinGen
gnomAD
rs762915826
CA382866890
358 T>I No ClinGen
TOPMed
CA229016775
rs762915826
358 T>K No ClinGen
TOPMed
CA382866885
rs1413266757
359 I>V No ClinGen
TOPMed
gnomAD
rs1249628120
CA382866854
363 K>R No ClinGen
gnomAD
CA6270091
rs762103695
367 E>Q No ClinGen
ExAC
gnomAD
CA6270090
rs201399984
369 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
RCV001858412
CA6270089
RCV000826031
rs201399984
369 T>S No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA382574020
rs1463925107
370 R>G No ClinGen
gnomAD
rs1379848461
CA382574017
370 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA228498841
rs199534450
371 K>E No ClinGen
1000Genomes
CA6270087
rs761232127
376 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA382573964
rs1214332223
376 D>G No ClinGen
TOPMed
gnomAD
rs772146113
CA382573929
379 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA6270084
rs759574395
379 R>L No ClinGen
ExAC
gnomAD
CA382573927
rs759574395
379 R>Q No ClinGen
ExAC
gnomAD
CA382573909
rs1308348441
381 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs774459596
CA382573908
381 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs774459596
CA6270083
381 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs376810025
CA6270081
382 A>P No ClinGen
ESP
ExAC
gnomAD
rs376810025
CA6270080
382 A>T No ClinGen
ESP
ExAC
gnomAD
CA6270078
rs748108220
387 E>K No ClinGen
ExAC
gnomAD
CA6270077
rs754563690
388 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA382573844
rs1477005471
388 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1291327971
CA382573833
389 L>H No ClinGen
gnomAD
rs746466609
CA6270075
390 E>G No ClinGen
ExAC
gnomAD
rs779405847
CA6270074
391 K>E No ClinGen
ExAC
gnomAD
CA6270073
rs727505297
CA382573803
392 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs750035123
CA6270072
393 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764536750
CA6270071
393 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA6270070
rs756407279
394 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6270069
rs780679073
394 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1209373602
CA382573733
400 K>M No ClinGen
gnomAD
rs767965188
CA228498689
401 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs1591137281
CA382573727
401 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA6270068
rs767965188
401 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6270067
rs373960715
402 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369202684
CA6270066
404 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6270065
rs766364205
408 A>V No ClinGen
ExAC
gnomAD
rs769714594
CA6270062
409 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA382573632
rs1298544556
410 Q>R No ClinGen
gnomAD
CA6270060
rs776729174
411 M>I No ClinGen
ExAC
gnomAD
rs747909378
CA6270061
411 M>R No ClinGen
ExAC
gnomAD
rs1428169066
CA382573615
412 K>Q No ClinGen
gnomAD
CA382573609
rs1370371596
412 K>R No ClinGen
gnomAD
rs768760004
CA382573601
413 N>I No ClinGen
ExAC
gnomAD
rs768760004
CA6270059
413 N>S No ClinGen
ExAC
gnomAD
CA228498643
rs930575497
414 Q>K No ClinGen
TOPMed
CA6270058
rs746885384
414 Q>L No ClinGen
ExAC
gnomAD
rs1350109120
CA382573586
415 E>K No ClinGen
TOPMed
CA6270057
rs779676296
417 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs200525150
CA6270037
418 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA382573273
rs1187916181
419 A>G No ClinGen
gnomAD
rs1277665435
CA382573262
420 E>V No ClinGen
TOPMed
CA382573240
rs1253939697
422 A>V No ClinGen
gnomAD
CA382573186
rs1226107324
427 K>N No ClinGen
gnomAD
rs770612865
CA6270033
427 K>R No ClinGen
ExAC
gnomAD
rs375938363
CA228497759
428 I>T No ClinGen
ESP
CA228497740
rs866703297
429 A>S No ClinGen
gnomAD
CA382573171
rs866703297
429 A>T No ClinGen
gnomAD
rs755277132
CA6270031
430 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6270030
rs752109745
434 A>P No ClinGen
ExAC
gnomAD
rs752109745
CA382573124
434 A>T No ClinGen
ExAC
gnomAD
CA6270028
rs758524429
435 K>E No ClinGen
ExAC
rs750514673
CA382573106
435 K>N No ClinGen
ExAC
gnomAD
CA228497698
rs1000629842
437 K>T No ClinGen
TOPMed
rs1565306762
CA382573046
440 E>D No ClinGen
Ensembl
CA382573035
rs1591135650
441 E>G No ClinGen
Ensembl
CA382573019
rs1165246963
443 T>A No ClinGen
gnomAD
rs754058941
CA6270023
445 W>C No ClinGen
ExAC
gnomAD
CA177716
rs727503393
RCV000151738
447 H>Q No ClinGen
ClinVar
Ensembl
dbSNP
rs763990381
CA6270022
447 H>R No ClinGen
ExAC
gnomAD
CA382572961
rs1182813603
448 K>E No ClinGen
gnomAD
rs1352385377
CA382572662
449 A>G No ClinGen
gnomAD
CA382572630
rs1565305499
451 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA382572628
rs1422141289
452 A>T No ClinGen
TOPMed
rs759449465
CA6269995
454 E>* No ClinGen
ExAC
RCV000156494
RCV001850160
rs727505062
CA184951
455 D>A No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA382572583
rs201761918
455 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6269991
rs762407915
466 V>E No ClinGen
ExAC
gnomAD
rs769377191
CA6269989
467 M>I No ClinGen
ExAC
gnomAD
CA382572433
rs1231807337
469 A>V No ClinGen
TOPMed
gnomAD
CA6269986
rs772465918
470 P>R No ClinGen
ExAC
rs754733997
CA6269978
471 P>H No ClinGen
ExAC
gnomAD
CA6269980
rs754733997
471 P>L Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6269979
rs754733997
471 P>R No ClinGen
ExAC
gnomAD
RCV000401456
CA6269983
rs138560358
471 P>S No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138560358
CA6269981
471 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766253404
CA6269974
474 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs772746054
CA6269970
481 P>A No ClinGen
ExAC
gnomAD
CA6269968
rs761425561
485 E>K No ClinGen
ExAC
gnomAD
CA6269966
rs772357302
487 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA228495695
rs201741843
488 E>G No ClinGen
1000Genomes
CA382572207
rs1411872584
489 H>Q No ClinGen
gnomAD
CA228495681
rs961196966
490 D>G No ClinGen
TOPMed
gnomAD
CA134767
RCV000037713
RCV001571007
rs34471100
VAR_036858
490 D>N No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA382572193
rs961196966
490 D>V No ClinGen
TOPMed
gnomAD
rs1191086578
CA382572166
492 N>H No ClinGen
TOPMed
rs149915672
CA6269962
499 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA228495648
rs889509891
501 S>P No ClinGen
TOPMed
rs140180881
CA6269960
502 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781434721
CA6269959
504 G>R No ClinGen
ExAC
gnomAD
rs146734750
CA6269958
506 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA382571958
rs1239679893
508 H>R No ClinGen
gnomAD
CA6269957
rs751403876
508 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6269955
rs758394158
511 E>K No ClinGen
ExAC
gnomAD
rs894093123
CA228495628
513 E>K No ClinGen
TOPMed
gnomAD
CA228495623
rs1019544317
514 R>C No ClinGen
TOPMed
CA228495619
rs758006766
514 R>H No ClinGen
gnomAD
rs1327254539
CA382571889
515 V>I No ClinGen
TOPMed
gnomAD
CA382571873
rs1379664354
517 E>K No ClinGen
gnomAD
CA6269952
rs761349279
519 Q>H No ClinGen
ExAC
gnomAD
CA6269951
rs753458211
522 E>K No ClinGen
ExAC
gnomAD
rs763861122
CA6269950
523 R>C No ClinGen
ExAC
gnomAD
rs374217847
CA6269949
523 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374217847
CA6269948
523 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6269947
rs771409632
527 Q>L No ClinGen
ExAC
gnomAD
CA228494808
rs768846725
536 A>T No ClinGen
gnomAD
rs143401385
CA382571118
540 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6269931
rs143401385
540 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760462619
CA382571073
542 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs760462619
CA6269930
542 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs763338823
CA6269927
546 Q>E No ClinGen
ExAC
gnomAD
CA228494783
rs200726776
550 L>F No ClinGen
1000Genomes
TOPMed
gnomAD
CA228494786
rs200726776
550 L>I No ClinGen
1000Genomes
TOPMed
gnomAD
rs1489548023
CA382570838
555 V>I No ClinGen
gnomAD
rs958586956
CA228494775
556 K>N No ClinGen
TOPMed
gnomAD
CA6269925
rs770379250
557 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6269924
rs528380395
559 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs776835361
CA6269923
559 R>H No ClinGen
ExAC
gnomAD
rs1324635029
CA382570763
560 D>G No ClinGen
gnomAD
rs139896690
CA6269922
563 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA382570704
rs1179716581
564 T>A No ClinGen
TOPMed
rs762658340
CA228494742
566 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA382570649
rs1369269011
567 Q>R No ClinGen
gnomAD
rs868305531
CA228494733
569 R>* No ClinGen
Ensembl
rs780179741
CA6269920
569 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1371513238
CA382570590
572 N>D No ClinGen
gnomAD
rs1170898250
CA382570567
573 T>A No ClinGen
gnomAD
CA382570533
rs1232437292
575 Q>E No ClinGen
TOPMed
rs745727415
CA6269918
577 I>T No ClinGen
ExAC
gnomAD
RCV000826030
CA6269919
rs370958814
577 I>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6269916
rs757290634
582 A>V No ClinGen
ExAC
gnomAD
CA382570407
rs1483519462
583 M>T No ClinGen
gnomAD
CA6269915
rs753707089
583 M>V No ClinGen
ExAC
gnomAD

1 associated diseases with P35241

[MIM: 611022]: Deafness, autosomal recessive, 24 (DFNB24)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P35241

Type Name Position InterPro Accession
domain Protein kinase domain 249 - 500 IPR000719
active_site Serine/threonine-protein kinase, active site 364 - 376 IPR008271
binding_site Protein kinase, ATP binding site 255 - 278 IPR017441
domain p21 activated kinase binding domain 72 - 117 IPR033923
domain p21-activated kinase 2, catalytic domain 229 - 524 IPR035064

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Peripheral membrane protein; Cytoplasmic side
  • Cytoplasm, cytoskeleton
  • Cleavage furrow
  • Cell projection, microvillus
  • Cell projection, stereocilium
  • Enriched at the stereocilium base with very low levels in the shaft of stereociliary bundles (By similarity)
  • Highly concentrated in the undercoat of the cell-to-cell adherens junction and the cleavage furrow in the interphase and mitotic phase, respectively
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

17 GO annotations of cellular component

Name Definition
adherens junction A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
apical part of cell The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue.
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
cell periphery The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures.
cell tip The region at the end of the longest axis of a cylindrical or elongated cell.
cleavage furrow The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm.
cortical actin cytoskeleton The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
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 space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
filopodium Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
stereocilium base The tapered base of the stereocilium adjacent to where it joins the hair cell body. This region contains a rootlet comprised of bundled actin filaments which spans the joint and stabilizes the stereocilium.
T-tubule Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane.

6 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
ATPase binding Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
cell adhesion molecule binding Binding to a cell adhesion molecule.
protein kinase A binding Binding to a protein kinase A.
RNA binding Binding to an RNA molecule or a portion thereof.

25 GO annotations of biological process

Name Definition
apical protein localization Any process in which a protein is transported to, or maintained in, apical regions of the cell.
barbed-end actin filament capping The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits.
cellular response to platelet-derived growth factor stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet-derived growth factor stimulus.
cellular response to thyroid hormone stimulus A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thyroid hormone stimulus.
establishment of endothelial barrier The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition.
establishment of protein localization to plasma membrane The directed movement of a protein to a specific location in a plasma membrane.
negative regulation of adherens junction organization Any process that stops, prevents or reduces the frequency, rate or extent of adherens junction organization.
negative regulation of cell size Any process that reduces cell size.
negative regulation of GTPase activity Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
negative regulation of homotypic cell-cell adhesion Any process that stops, prevents, or reduces the frequency, rate, or extent of homotypic cell-cell adhesion.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of early endosome to late endosome transport Any process that activates or increases the frequency, rate or extent of early endosome to late endosome transport.
positive regulation of G1/S transition of mitotic cell cycle Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of protein catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of protein localization to early endosome Any process that activates or increases the frequency, rate or extent of protein localization to early endosome.
protein kinase A signaling A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound.
protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of actin filament bundle assembly Any process that modulates the frequency, rate or extent of the assembly of actin filament bundles.
regulation of cell shape Any process that modulates the surface configuration of a cell.
regulation of cell size Any process that modulates the size of a cell.
regulation of GTPase activity Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of organelle assembly Any process that modulates the frequency, rate or extent of organelle assembly.
regulation of Rap protein signal transduction Any process that modulates the frequency, rate or extent of Rap protein signal transduction.
regulation of ruffle assembly Any process that modulates the frequency, rate or extent of ruffle assembly.

21 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P31976 EZR Ezrin Bos taurus (Bovine) PR
Q2HJ49 MSN Moesin Bos taurus (Bovine) PR
Q32LP2 RDX Radixin Bos taurus (Bovine) SS
Q9PU45 RDX Radixin Gallus gallus (Chicken) PR
Q24564 Mer Moesin/ezrin/radixin homolog 2 Drosophila melanogaster (Fruit fly) SS
P46150 Moe Moesin/ezrin/radixin homolog 1 Drosophila melanogaster (Fruit fly) SS
Q3KP66 INAVA Innate immunity activator protein Homo sapiens (Human) PR
P35240 NF2 Merlin Homo sapiens (Human) EV
P26038 MSN Moesin Homo sapiens (Human) EV
P15311 EZR Ezrin Homo sapiens (Human) EV
A2AD83 Frmd7 FERM domain-containing protein 7 Mus musculus (Mouse) PR
P26040 Ezr Ezrin Mus musculus (Mouse) SS
P26041 Msn Moesin Mus musculus (Mouse) SS
P46662 Nf2 Merlin Mus musculus (Mouse) SS
P26043 Rdx Radixin Mus musculus (Mouse) SS
P26042 MSN Moesin Sus scrofa (Pig) PR
P26044 RDX Radixin Sus scrofa (Pig) SS
Q63648 Nf2 Merlin Rattus norvegicus (Rat) SS
O35763 Msn Moesin Rattus norvegicus (Rat) SS
P31977 Ezr Ezrin Rattus norvegicus (Rat) SS
Q6Q413 nf2b NF2, moesin-ezrin-radixin-like Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MPKPINVRVT TMDAELEFAI QPNTTGKQLF DQVVKTVGLR EVWFFGLQYV DSKGYSTWLK
70 80 90 100 110 120
LNKKVTQQDV KKENPLQFKF RAKFFPEDVS EELIQEITQR LFFLQVKEAI LNDEIYCPPE
130 140 150 160 170 180
TAVLLASYAV QAKYGDYNKE IHKPGYLAND RLLPQRVLEQ HKLTKEQWEE RIQNWHEEHR
190 200 210 220 230 240
GMLREDSMME YLKIAQDLEM YGVNYFEIKN KKGTELWLGV DALGLNIYEH DDKLTPKIGF
250 260 270 280 290 300
PWSEIRNISF NDKKFVIKPI DKKAPDFVFY APRLRINKRI LALCMGNHEL YMRRRKPDTI
310 320 330 340 350 360
EVQQMKAQAR EEKHQKQLER AQLENEKKKR EIAEKEKERI EREKEELMER LKQIEEQTIK
370 380 390 400 410 420
AQKELEEQTR KALELDQERK RAKEEAERLE KERRAAEEAK SAIAKQAADQ MKNQEQLAAE
430 440 450 460 470 480
LAEFTAKIAL LEEAKKKKEE EATEWQHKAF AAQEDLEKTK EELKTVMSAP PPPPPPPVIP
490 500 510 520 530 540
PTENEHDEHD ENNAEASAEL SNEGVMNHRS EEERVTETQK NERVKKQLQA LSSELAQARD
550 560 570 580
ETKKTQNDVL HAENVKAGRD KYKTLRQIRQ GNTKQRIDEF EAM