Descriptions

Dual specificity mitogen-activated protein kinase kinase 3 (MAP2K3) is annotated based on its experimentally validated activation loop, which is expected to act as accessory element in the autoinhibition of MAP2K3.

Autoinhibitory domains (AIDs)

Accessory elements

207-229 (Activation loop from InterPro)

Target domain

64-326 (Protein kinase domain)

Relief mechanism

Assay

References

Autoinhibited structure

Activated structure

1 structures for P46734

Entry ID Method Resolution Chain Position Source
AF-P46734-F1 Predicted AlphaFoldDB

392 variants for P46734

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1236281089
CA398250606
2 E>* No ClinGen
gnomAD
rs555847635
CA398250622
4 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555847635
CA8449993
4 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs968308259
CA288952354
4 P>S No ClinGen
TOPMed
gnomAD
CA8449994
rs769870063
6 S>L No ClinGen
ExAC
gnomAD
rs1421142599
CA398250630
6 S>P No ClinGen
gnomAD
rs764298409
CA8449998
7 S>R No ClinGen
ExAC
gnomAD
rs762132100
CA8449999
8 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs768042835
CA8450000
9 P>A No ClinGen
ExAC
gnomAD
CA288952377
rs768042835
9 P>S No ClinGen
ExAC
gnomAD
CA8450002
rs750892990
10 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA8450001
rs750892990
10 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8450003
rs778416374
12 M>I No ClinGen
ExAC
gnomAD
CA398250670
rs778416374
12 M>I No ClinGen
ExAC
gnomAD
rs1567654365
CA398250666
12 M>L No ClinGen
Ensembl
rs1282207373
CA398250690
15 S>C No ClinGen
gnomAD
CA398250696
rs1345986872
16 K>R No ClinGen
gnomAD
CA8450140
rs535050080
19 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8450141
rs535050080
19 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1485988424
CA398252719
20 K>R No ClinGen
TOPMed
rs748633910
CA8450143
21 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA398252759
rs953801481
24 D>N No ClinGen
TOPMed
gnomAD
rs953801481
CA288967614
24 D>Y No ClinGen
TOPMed
gnomAD
CA398252778
rs1355867861
25 L>P No ClinGen
TOPMed
CA8450149
rs749070324
26 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779727093
CA8450148
26 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs768450668
CA8450150
27 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1340112579
CA398252792
27 I>V No ClinGen
TOPMed
gnomAD
rs1275616285
CA398252808
28 S>Y No ClinGen
gnomAD
rs761908122
CA8450152
29 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA398252822
rs761908122
29 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs774158814
CA8450151
29 C>Y No ClinGen
ExAC
gnomAD
rs370914287
CA8450154
30 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8450153
rs772121244
30 M>K No ClinGen
ExAC
gnomAD
rs1265176318
CA398252827
30 M>L No ClinGen
TOPMed
gnomAD
rs760802049
CA8450155
31 S>F No ClinGen
ExAC
gnomAD
rs1158820883
CA398252858
32 K>R No ClinGen
TOPMed
rs1391649195
CA398252871
33 P>Q No ClinGen
TOPMed
gnomAD
rs1403197048
CA398252885
34 P>R No ClinGen
gnomAD
rs368729510
CA398252892
35 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368729510
COSM1710022
CA8450160
35 A>T skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs758965481
CA398252933
38 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8450161
rs758965481
38 P>R No ClinGen
ExAC
TOPMed
gnomAD
COSM1381511
rs77066538
CA8450162
RCV000892940
39 T>I large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs77066538
CA398252944
39 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1363198122
CA398252938
39 T>P No ClinGen
gnomAD
CA8450163
rs77066538
39 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs33911218
CA398253037
40 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775653621
CA8450195
40 P>H No ClinGen
ExAC
gnomAD
CA398253042
rs775653621
40 P>L No ClinGen
ExAC
gnomAD
RCV000947780
rs33911218
CA8450194
VAR_046062
40 P>T No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA398253055
rs1411037459
41 P>L No ClinGen
gnomAD
CA8450201
rs139443409
42 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8450200
rs767884956
42 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs765002445
CA8450204
44 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs752337832
CA8450205
45 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA8450209
rs746787964
47 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8450208
rs746787964
47 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777780137
CA8450207
47 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs140668299
CA8450210
48 T>I No ClinGen
ESP
ExAC
gnomAD
rs745994827
CA8450211
49 F>C No ClinGen
ExAC
gnomAD
rs1166933352
CA398253159
50 I>L No ClinGen
TOPMed
gnomAD
rs373525024
CA8450212
50 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8450214
rs187946780
52 I>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000885055
CA8450213
rs187946780
52 I>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1356564972
CA398253181
52 I>V No ClinGen
gnomAD
COSM1318530
CA8450215
rs75306459
54 D>E haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
TOPMed
gnomAD
CA398253210
rs1329877028
54 D>N No ClinGen
TOPMed
gnomAD
rs36047035
CA398253241
55 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8450218
rs774743496
55 R>S No ClinGen
ExAC
gnomAD
CA8450217
rs36047035
VAR_061742
RCV000947781
55 R>T No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1597816060
CA398253975
57 F>C No ClinGen
Ensembl
rs1339445140
CA398253991
58 E>K No ClinGen
TOPMed
gnomAD
rs1455533812
CA398254007
59 V>A No ClinGen
TOPMed
CA8450265
rs767174366
59 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1327033661
CA398254011
60 E>K No ClinGen
gnomAD
rs1486227430
CA398254059
62 D>N No ClinGen
gnomAD
CA8450267
rs760418674
62 D>V No ClinGen
ExAC
gnomAD
CA288970653
rs1011375302
63 D>H No ClinGen
TOPMed
gnomAD
CA8450269
rs753716912
65 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs755054165
CA8450270
66 T>I No ClinGen
ExAC
gnomAD
rs1454899646
CA398254166
67 I>V No ClinGen
gnomAD
CA8450271
VAR_046063
rs34105301
RCV000947782
68 S>P No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1401085699
CA398254232
70 L>M No ClinGen
gnomAD
CA398254240
rs1207412878
70 L>R No ClinGen
TOPMed
CA8450272
rs752806793
71 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs200914153
CA8450274
72 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8450275
rs747410898
72 R>H No ClinGen
ExAC
gnomAD
rs200914153
CA8450273
72 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1288901484
CA398254288
73 G>R No ClinGen
TOPMed
gnomAD
rs1288901484
CA398254290
73 G>R No ClinGen
TOPMed
gnomAD
rs1318579056
CA398254306
74 A>T No ClinGen
TOPMed
gnomAD
CA398254348
rs1344632491
75 Y>* No ClinGen
TOPMed
gnomAD
CA8450277
rs781769054
75 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8450278
rs746313676
76 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs746313676
CA398254357
76 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA398254371
rs1482278537
77 V>A No ClinGen
gnomAD
CA398254385
rs773794838
78 V>A No ClinGen
ExAC
gnomAD
CA8450280
rs773794838
78 V>G No ClinGen
ExAC
gnomAD
rs747661001
CA8450281
79 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs771651753
CA8450283
80 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1376541785
CA398254425
81 V>M No ClinGen
TOPMed
gnomAD
CA398254451
rs759527241
82 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8450287
rs759527241
82 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8450285
rs766095224
82 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA398254483
rs200944510
83 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398254455
rs1298472395
83 H>Y No ClinGen
TOPMed
gnomAD
CA398254491
rs2305873
84 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_046064
rs2305873
CA8450290
RCV000947785
84 A>T No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA8450291
rs764245258
85 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs530302955
CA8450292
85 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398254505
rs764245258
85 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1029598403
CA288970804
86 S>G No ClinGen
TOPMed
gnomAD
CA8450293
rs757705153
86 S>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1588762
rs1204923291
CA398254542
87 G>S endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA398254547
rs1252212211
87 G>V No ClinGen
gnomAD
rs1481928966
CA398254563
88 T>I No ClinGen
gnomAD
CA398254559
rs1481928966
88 T>N No ClinGen
gnomAD
rs746225381
CA8450295
89 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1266125913
CA398254571
89 I>V No ClinGen
gnomAD
CA8450296
rs36076766
VAR_046065
RCV000969919
90 M>I No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1597816368
CA398254592
90 M>K No ClinGen
Ensembl
CA398254601
rs1172598370
91 A>P No ClinGen
TOPMed
gnomAD
rs780568273
CA8450297
91 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs746731299
CA398254615
92 V>A No ClinGen
ExAC
gnomAD
CA8450301
rs746731299
92 V>E No ClinGen
ExAC
gnomAD
CA398254612
rs772854520
92 V>L No ClinGen
ExAC
gnomAD
CA8450300
rs772854520
92 V>M No ClinGen
ExAC
gnomAD
rs56067280
CA8450327
VAR_046066
94 R>L No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs56067280
CA398254692
94 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1482045827
CA398254706
95 I>M No ClinGen
gnomAD
VAR_046067
CA8450328
rs56216806
96 R>W No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1257931374
CA398254741
98 T>I No ClinGen
TOPMed
gnomAD
rs1156837659
CA398254743
99 V>M No ClinGen
TOPMed
gnomAD
rs1400193440
CA398254765
100 N>S No ClinGen
gnomAD
CA8450333
rs55796947
102 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398254789
rs1228109961
103 E>D No ClinGen
TOPMed
rs1312694093
CA398254791
104 Q>* No ClinGen
gnomAD
rs754138163
CA8450334
104 Q>R No ClinGen
ExAC
gnomAD
CA8450336
rs779360419
106 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8450335
rs370241403
106 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8450337
rs751101797
107 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1322230590
CA398254814
108 L>F No ClinGen
TOPMed
CA8450338
rs535902224
109 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA8450339
rs780836688
112 D>N No ClinGen
ExAC
gnomAD
rs780836688
CA398254858
112 D>Y No ClinGen
ExAC
gnomAD
rs1486525497
CA398254884
114 N>H No ClinGen
gnomAD
rs1250999700
CA398254901
115 M>L No ClinGen
TOPMed
gnomAD
rs1470443771
CA398254906
115 M>T No ClinGen
TOPMed
gnomAD
CA8450341
rs769330208
116 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8450342
rs374662792
116 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398254922
rs374662792
116 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8450343
rs749017209
117 T>M No ClinGen
ExAC
gnomAD
CA8450346
rs761995933
119 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs373365578
CA8450347
119 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398254967
rs2230435
120 C>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761014197
CA8450349
121 F>L No ClinGen
ExAC
gnomAD
CA8450350
rs766487476
121 F>S No ClinGen
ExAC
gnomAD
rs759854704
CA398254993
122 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs750313752
CA288971058
123 T>A No ClinGen
Ensembl
CA398255005
rs1367510527
123 T>I No ClinGen
TOPMed
CA398255011
rs1273790684
124 V>L No ClinGen
TOPMed
CA8450355
rs756764700
128 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs749891984
CA398255076
129 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs749891984
CA8450357
129 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1385261269
CA398255804
134 G>R No ClinGen
gnomAD
rs749679371
CA8450416
136 V>E No ClinGen
ExAC
gnomAD
rs749679371
CA8450415
136 V>G No ClinGen
ExAC
gnomAD
rs770045688
CA8450414
136 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs770045688
CA8450413
136 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1435533376
CA398255833
137 W>S No ClinGen
gnomAD
CA398255844
rs774768696
138 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA8450417
rs774768696
138 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA398255858
rs1314519598
139 C>F No ClinGen
gnomAD
CA8450419
rs141291947
140 M>V No ClinGen
ESP
ExAC
TOPMed
rs1260172726
CA398255877
141 E>K No ClinGen
gnomAD
rs776319905
CA8450420
142 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8450423
rs752339522
143 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8450422
rs765004158
143 M>V No ClinGen
ExAC
gnomAD
rs1189011101
CA398255925
145 T>I No ClinGen
gnomAD
CA8450425
rs763864227
146 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs762812560
CA8450424
146 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1265141106
CA398255944
147 L>F No ClinGen
TOPMed
rs757193395
CA8450427
148 D>E No ClinGen
ExAC
gnomAD
rs751357548
CA8450426
148 D>G No ClinGen
ExAC
TOPMed
rs1363851432
CA398255948
148 D>N No ClinGen
gnomAD
rs368763343
CA8450428
149 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1374404589
CA398255976
150 F>L No ClinGen
gnomAD
CA8450432
rs148304866
COSM3402667
152 R>Q central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143272108
CA8450431
152 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1390715738
CA398256006
153 K>E No ClinGen
gnomAD
CA398256021
rs1597819586
154 V>G No ClinGen
Ensembl
rs755211258
CA8450433
154 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA398256029
rs1398447545
155 L>P No ClinGen
TOPMed
COSM1479333
CA8450435
rs748513234
156 D>Y breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA398256047
rs1597819623
157 K>E No ClinGen
Ensembl
rs772485005
CA8450437
158 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs113110874
CA288972516
160 T>A No ClinGen
Ensembl
CA8450438
rs773806671
160 T>I No ClinGen
ExAC
gnomAD
rs773806671
CA398256088
160 T>K No ClinGen
ExAC
gnomAD
rs745383124
CA8450439
162 P>L No ClinGen
ExAC
gnomAD
CA398256142
rs1567669619
165 I>N No ClinGen
Ensembl
CA398256153
rs775135517
166 L>H No ClinGen
ExAC
gnomAD
CA8450441
rs775135517
166 L>P No ClinGen
ExAC
gnomAD
CA398256162
rs1221576051
167 G>E No ClinGen
gnomAD
RCV000890370
CA8450443
rs141390631
169 I>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs774056960
CA8450444
170 A>V No ClinGen
ExAC
gnomAD
rs1183708815
CA398256284
174 V>A No ClinGen
gnomAD
rs201593726
CA398256278
174 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201593726
CA8450487
174 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201593726
CA8450486
174 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8450490
rs747851232
175 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8450491
rs747851232
175 R>Q No ClinGen
ExAC
TOPMed
gnomAD
VAR_014208
rs1339756947
CA8450488
175 R>W colon cancer [UniProt] No ClinGen
UniProt
TOPMed
dbSNP
rs891388633
CA398256327
178 E>D No ClinGen
TOPMed
CA8450493
rs760420455
COSM1710026
178 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs770874878
CA8450494
179 H>Q No ClinGen
ExAC
rs765424344
CA8450497
185 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA288973560
rs765424344
185 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA398256753
rs1196458610
191 V>M No ClinGen
gnomAD
rs768792966
CA8450536
192 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8450537
rs774573159
193 P>S No ClinGen
ExAC
rs1164944855
CA398256776
195 N>D No ClinGen
gnomAD
rs767600120
CA8450539
196 V>I No ClinGen
ExAC
gnomAD
rs1326801604
CA398256817
201 E>K No ClinGen
TOPMed
gnomAD
CA398256825
rs1401545996
202 G>S No ClinGen
gnomAD
rs1354689052
CA398256838
203 H>Q No ClinGen
gnomAD
rs377202574
CA8450542
204 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8450545
rs763652051
206 M>I No ClinGen
ExAC
gnomAD
CA8450544
rs755472008
206 M>T No ClinGen
ExAC
gnomAD
CA8450546
rs751046606
207 C>Y No ClinGen
ExAC
gnomAD
CA8450547
RCV000892941
rs138917253
208 D>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs370011459
CA8450549
210 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755810709
CA8450550
212 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA398256912
rs1232429710
214 Y>* No ClinGen
Ensembl
rs989026404
VAR_014209
CA398256914
215 L>V colon cancer [UniProt] No ClinGen
UniProt
TOPMed
dbSNP
gnomAD
RCV000203042
CA249248
rs74575904
215 L>W No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA398256922
rs1457628071
216 V>L No ClinGen
TOPMed
rs1243698443
CA398256930
217 D>Y No ClinGen
TOPMed
gnomAD
rs1421313006
CA398256947
218 S>P No ClinGen
gnomAD
rs774609917
CA8450553
218 S>Y No ClinGen
ExAC
gnomAD
rs1162647513
CA398256965
219 V>A No ClinGen
TOPMed
rs748134030
CA8450554
220 A>V No ClinGen
ExAC
gnomAD
CA398256989
rs1414373733
221 K>R No ClinGen
TOPMed
rs58609466
CA398257003
222 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs58609466
RCV000947789
CA8450556
222 T>M No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs58609466
CA8450557
222 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8450561
COSM1381515
rs139594289
223 M>I large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8450560
rs760085339
223 M>T No ClinGen
ExAC
gnomAD
rs776965903
CA8450559
223 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs767215287
CA8450564
226 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA8450563
rs149487222
226 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398257067
rs1258791233
227 C>G No ClinGen
gnomAD
rs1435584008
CA398257093
228 K>N No ClinGen
gnomAD
CA398257126
rs1180403428
231 M>V No ClinGen
gnomAD
rs749979842
CA8450565
232 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8450614
rs757259243
234 E>K No ClinGen
ExAC
gnomAD
rs781404369
CA8450615
235 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs781404369
CA398257282
235 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs1185963849
CA398257340
238 P>L No ClinGen
TOPMed
gnomAD
rs746144760
CA8450616
238 P>S No ClinGen
ExAC
gnomAD
rs1187474562
CA398257346
239 E>G No ClinGen
TOPMed
CA288975422
rs868386503
239 E>K No ClinGen
Ensembl
CA398257362
rs1597824627
241 N>K No ClinGen
Ensembl
CA8450617
rs756321508
241 N>S No ClinGen
ExAC
gnomAD
rs1167184206
CA398257367
242 Q>* No ClinGen
TOPMed
gnomAD
CA8450618
rs780318706
242 Q>H No ClinGen
ExAC
gnomAD
rs1419499841
CA398257388
243 K>N No ClinGen
gnomAD
rs148612005
CA8450619
RCV000887086
244 G>V No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1413452966
CA398257409
245 Y>C No ClinGen
gnomAD
rs774858402
CA8450621
246 N>H No ClinGen
ExAC
gnomAD
rs746534193
CA8450622
246 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA398257437
rs1597824669
247 V>A No ClinGen
Ensembl
CA398257454
rs770625051
248 K>N No ClinGen
ExAC
gnomAD
rs1229469947
CA398257444
248 K>T No ClinGen
gnomAD
CA398257464
rs1305410810
249 S>C No ClinGen
TOPMed
CA398257456
rs1352475563
249 S>P No ClinGen
gnomAD
CA398257468
rs1484682426
250 D>A No ClinGen
gnomAD
COSM3402669
rs759303256
CA8450625
250 D>N central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8450628
rs150613942
251 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150613942
CA8450627
RCV000951140
251 V>I No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1427823788
CA398257495
252 W>C No ClinGen
TOPMed
rs751438940
CA398257526
254 L>P No ClinGen
ExAC
gnomAD
rs751438940
CA8450631
254 L>R No ClinGen
ExAC
gnomAD
rs757171269
CA398257539
255 G>A No ClinGen
ExAC
gnomAD
rs1382544404
CA398257531
255 G>S No ClinGen
TOPMed
gnomAD
CA8450632
rs757171269
255 G>V No ClinGen
ExAC
gnomAD
rs750467980
CA8450634
257 T>I No ClinGen
ExAC
gnomAD
CA398257580
rs1433036479
258 M>R No ClinGen
TOPMed
CA398257584
rs1433036479
258 M>T No ClinGen
TOPMed
rs778493330
CA8450696
260 E>D No ClinGen
ExAC
gnomAD
CA398258254
rs771917013
263 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA8450698
rs771917013
263 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs772881322
CA8450699
265 R>Q No ClinGen
ExAC
gnomAD
rs1197448393
CA398258266
265 R>W No ClinGen
gnomAD
CA8450701
rs770752770
266 F>C No ClinGen
ExAC
gnomAD
CA398258270
rs1398761406
266 F>L No ClinGen
gnomAD
CA8450703
rs776797051
266 F>L No ClinGen
ExAC
gnomAD
rs765561073
CA8450704
268 Y>C No ClinGen
ExAC
gnomAD
CA398258294
rs763253789
269 E>D No ClinGen
ExAC
gnomAD
rs368095963
CA8450708
270 S>A No ClinGen
ESP
ExAC
TOPMed
CA8450709
rs751837128
270 S>C No ClinGen
ExAC
gnomAD
CA8450710
rs751837128
270 S>Y No ClinGen
ExAC
gnomAD
rs767860294
CA398258302
271 W>* No ClinGen
ExAC
gnomAD
rs767860294
CA8450712
271 W>L No ClinGen
ExAC
gnomAD
CA8450713
rs753415767
272 G>R No ClinGen
ExAC
gnomAD
rs754414832
CA8450714
273 T>I No ClinGen
ExAC
gnomAD
CA398258322
rs1254611514
274 P>L No ClinGen
gnomAD
CA398258321
rs1254611514
274 P>R No ClinGen
gnomAD
CA8450718
rs777673763
277 Q>* No ClinGen
ExAC
gnomAD
rs777673763
CA8450719
277 Q>E No ClinGen
ExAC
gnomAD
rs770932904
CA8450721
278 L>P No ClinGen
ExAC
gnomAD
CA398258350
rs1462982083
279 K>E No ClinGen
gnomAD
CA8450723
rs745957434
283 E>K No ClinGen
ExAC
gnomAD
CA8450725
rs376891281
284 E>K No ClinGen
ESP
ExAC
gnomAD
CA8450724
rs376891281
284 E>Q No ClinGen
ESP
ExAC
gnomAD
rs371545792
CA8450726
COSM1381521
285 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA398258394
rs371545792
285 P>R No ClinGen
ESP
ExAC
gnomAD
CA8450729
rs762040308
287 P>H No ClinGen
ExAC
gnomAD
rs1254789558
CA398258408
288 Q>* No ClinGen
gnomAD
rs768070212
CA8450730
289 L>V No ClinGen
ExAC
gnomAD
rs756613703
CA8450732
291 A>D No ClinGen
ExAC
gnomAD
rs756613703
CA8450733
291 A>V No ClinGen
ExAC
gnomAD
rs758070523
CA8450735
292 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA8450736
rs777252658
293 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8450738
rs35206134
RCV000947797
VAR_046068
293 R>H No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs35206134
CA398258437
293 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8450737
rs777252658
293 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1377036792
CA398258445
294 F>L No ClinGen
gnomAD
CA398258443
rs1196428815
294 F>S No ClinGen
gnomAD
CA398258452
rs1466464125
295 S>F No ClinGen
gnomAD
rs370462268
CA288979846
296 P>S No ClinGen
ESP
TOPMed
CA8450740
rs572893701
297 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780328276
CA8450742
299 V>M No ClinGen
ExAC
gnomAD
CA8450744
rs768951364
303 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1326797498
CA398258505
304 Q>* No ClinGen
gnomAD
CA8450770
rs771434728
305 C>* No ClinGen
ExAC
gnomAD
CA398258514
rs1234597456
305 C>R No ClinGen
gnomAD
CA398258538
rs1305305084
307 R>K No ClinGen
gnomAD
rs777065859
CA8450771
308 K>* No ClinGen
ExAC
TOPMed
gnomAD
CA8450772
rs777065859
308 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1399913936
CA398258547
308 K>N No ClinGen
TOPMed
gnomAD
rs1399913936
CA398258548
308 K>N No ClinGen
TOPMed
gnomAD
CA398258552
rs1233709187
309 N>T No ClinGen
TOPMed
rs144440258
CA398258558
310 P>A No ClinGen
ESP
ExAC
gnomAD
CA8450774
rs144440258
310 P>S No ClinGen
ESP
ExAC
gnomAD
CA398258564
rs55740804
311 A>S No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA8450776
rs55740804
311 A>T No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs767229142
CA8450778
312 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs767229142
CA398258576
312 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs750272526
CA8450779
313 R>C No ClinGen
ExAC
gnomAD
rs376163246
CA8450780
313 R>H No ClinGen
ESP
ExAC
gnomAD
CA8450781
rs376163246
313 R>P No ClinGen
ESP
ExAC
gnomAD
CA398258593
rs753881799
314 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs754917550
CA8450783
314 M>T No ClinGen
ExAC
gnomAD
rs753881799
CA8450782
314 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1486901884
CA398258610
315 S>N No ClinGen
gnomAD
rs1180149007
CA398258626
316 Y>C No ClinGen
gnomAD
CA398258649
rs748212878
318 E>A No ClinGen
ExAC
gnomAD
CA8450785
rs748212878
318 E>G No ClinGen
ExAC
gnomAD
CA398258654
rs1165924614
319 L>M No ClinGen
gnomAD
CA8450787
rs777906236
320 M>I No ClinGen
ExAC
gnomAD
rs1455270580
CA398259872
321 E>K No ClinGen
gnomAD
rs750711278
CA8450847
322 H>Q No ClinGen
ExAC
gnomAD
rs1278160340
CA398259921
323 P>L No ClinGen
TOPMed
rs780504964
CA8450848
323 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs754209897
CA8450849
326 T>N No ClinGen
ExAC
gnomAD
CA8450851
rs547952800
327 L>S No ClinGen
1000Genomes
ExAC
gnomAD
CA398259976
rs1330040800
327 L>V No ClinGen
gnomAD
rs149799475
CA8450852
328 H>R No ClinGen
ESP
ExAC
CA398259996
rs1359324940
328 H>Y No ClinGen
TOPMed
CA8450855
rs201112044
331 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1371305788
CA398260039
331 K>R No ClinGen
gnomAD
rs1273519236
CA398260055
332 K>N No ClinGen
gnomAD
CA8450856
rs769307504
333 T>A No ClinGen
ExAC
gnomAD
rs35755743
CA8450857
333 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1520428
rs774212609
CA8450860
334 D>N lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs761720851
CA8450861
335 I>F No ClinGen
ExAC
gnomAD
rs760983046
CA8450864
336 A>S No ClinGen
ExAC
gnomAD
rs766473365
CA8450865
336 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA398260109
rs1376947736
337 A>T No ClinGen
gnomAD
rs186277389
CA8450866
337 A>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs765684474
CA8450868
338 F>L No ClinGen
ExAC
gnomAD
rs780805421
CA8450871
339 V>A No ClinGen
ExAC
gnomAD
RCV000947799
VAR_046069
rs2363198
CA8450870
339 V>M No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1393442926
CA398260163
341 E>D No ClinGen
gnomAD
rs1059421
CA288983175
341 E>K No ClinGen
Ensembl
rs745313836
CA8450872
342 I>V No ClinGen
ExAC
gnomAD
CA398260195
rs1597510242
345 E>K No ClinGen
Ensembl
rs779615271
CA398260209
346 D>N No ClinGen
ExAC
gnomAD
rs779615271
CA8450875
346 D>Y No ClinGen
ExAC
gnomAD
CA398260229
rs1257454593
348 S>E No ClinGen
gnomAD

1 associated diseases with P46734

Without disease ID

3 regional properties for P46734

Type Name Position InterPro Accession
domain Protein kinase domain 64 - 325 IPR000719
active_site Serine/threonine-protein kinase, active site 186 - 198 IPR008271
binding_site Protein kinase, ATP binding site 70 - 93 IPR017441

Functions

Description
EC Number 2.7.12.2 Dual-specificity kinases (those acting on Ser/Thr and Tyr residues)
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase kinase activity Catalysis of the concomitant phosphorylation of threonine (T) and tyrosine (Y) residues in a Thr-Glu-Tyr (TEY) thiolester sequence in a MAP kinase (MAPK) substrate.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions
protein tyrosine kinase activity Catalysis of the reaction

20 GO annotations of biological process

Name Definition
cardiac muscle contraction Muscle contraction of cardiac muscle tissue.
cellular response to lipopolysaccharide 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to sorbitol 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 sorbitol stimulus.
cellular response to vascular endothelial 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 vascular endothelial growth factor stimulus.
cellular senescence A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers
negative regulation of hippo signaling Any process that stops, prevents, or reduces the frequency, rate or extent of hippo signaling.
p38MAPK cascade An intracellular protein kinase cascade containing at least a p38 MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tier
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of blood vessel endothelial cell migration Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of nitric-oxide synthase biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a nitric oxide synthase enzyme.
positive regulation of protein kinase activity Any process that activates or increases the frequency, rate or extent of protein kinase activity.
regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine.
response to ischemia Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
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.
stress-activated protein kinase signaling cascade The series of molecular signals in which a stress-activated protein kinase (SAPK) cascade relays a signal.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5E9X2 MAP2K6 Dual specificity mitogen-activated protein kinase kinase 6 Bos taurus (Bovine) EV
O14733 MAP2K7 Dual specificity mitogen-activated protein kinase kinase 7 Homo sapiens (Human) PR
P52564 MAP2K6 Dual specificity mitogen-activated protein kinase kinase 6 Homo sapiens (Human) EV
P45985 MAP2K4 Dual specificity mitogen-activated protein kinase kinase 4 Homo sapiens (Human) EV
Q13163 MAP2K5 Dual specificity mitogen-activated protein kinase kinase 5 Homo sapiens (Human) PR
P36507 MAP2K2 Dual specificity mitogen-activated protein kinase kinase 2 Homo sapiens (Human) EV
Q02750 MAP2K1 Dual specificity mitogen-activated protein kinase kinase 1 Homo sapiens (Human) EV
P70236 Map2k6 Dual specificity mitogen-activated protein kinase kinase 6 Mus musculus (Mouse) EV
O09110 Map2k3 Dual specificity mitogen-activated protein kinase kinase 3 Mus musculus (Mouse) PR
Q8CE90 Map2k7 Dual specificity mitogen-activated protein kinase kinase 7 Mus musculus (Mouse) PR
P47809 Map2k4 Dual specificity mitogen-activated protein kinase kinase 4 Mus musculus (Mouse) EV
G5EDF7 sek-1 Dual specificity mitogen-activated protein kinase kinase sek-1 Caenorhabditis elegans PR
G5EDT6 jkk-1 Dual specificity mitogen-activated protein kinase kinase jkk-1 Caenorhabditis elegans PR
Q21307 mek-1 Dual specificity mitogen-activated protein kinase kinase mek-1 Caenorhabditis elegans PR
Q9DGE0 map2k6 Dual specificity mitogen-activated protein kinase kinase 6 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MESPASSQPA SMPQSKGKSK RKKDLRISCM SKPPAPNPTP PRNLDSRTFI TIGDRNFEVE
70 80 90 100 110 120
ADDLVTISEL GRGAYGVVEK VRHAQSGTIM AVKRIRATVN SQEQKRLLMD LDINMRTVDC
130 140 150 160 170 180
FYTVTFYGAL FREGDVWICM ELMDTSLDKF YRKVLDKNMT IPEDILGEIA VSIVRALEHL
190 200 210 220 230 240
HSKLSVIHRD VKPSNVLINK EGHVKMCDFG ISGYLVDSVA KTMDAGCKPY MAPERINPEL
250 260 270 280 290 300
NQKGYNVKSD VWSLGITMIE MAILRFPYES WGTPFQQLKQ VVEEPSPQLP ADRFSPEFVD
310 320 330 340
FTAQCLRKNP AERMSYLELM EHPFFTLHKT KKTDIAAFVK EILGEDS