Q13163
PR
Gene name |
MAP2K5 (MEK5, MKK5, PRKMK5) |
Protein name |
Dual specificity mitogen-activated protein kinase kinase 5 |
Names |
MAP kinase kinase 5, MAPKK 5, MAPK/ERK kinase 5, MEK 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5607 |
EC number |
2.7.12.2: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Protein Class |
|
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
300-321 (Activation loop from InterPro)
Target domain |
166-419 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
4 structures for Q13163
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2NPT | X-ray | 175 A | A/C | 5-108 | PDB |
| 2O2V | X-ray | 183 A | A | 5-108 | PDB |
| 4IC7 | X-ray | 260 A | B/E | 16-130 | PDB |
| AF-Q13163-F1 | Predicted | AlphaFoldDB |
289 variants for Q13163
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1006122408 CA272564476 |
2 | L>Q | No |
ClinGen Ensembl |
|
|
CA393204232 rs1408760644 |
3 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs142550156 CA7628341 |
4 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759310113 CA7628342 |
5 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA272564500 rs1016126824 |
6 | L>F | No |
ClinGen gnomAD |
|
|
CA7628343 rs767323999 |
6 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs144896265 CA393204255 |
7 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144896265 CA7628344 |
7 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA272564533 rs897524507 |
10 | P>S | No |
ClinGen Ensembl |
|
|
rs1270306308 CA393204283 |
12 | M>L | No |
ClinGen gnomAD |
|
|
rs1270306308 CA393204282 |
12 | M>V | No |
ClinGen gnomAD |
|
|
CA272564552 rs993139444 |
13 | E>D | No |
ClinGen gnomAD |
|
|
CA7628349 rs753336851 |
13 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs758945457 CA393204303 |
14 | N>K | No |
ClinGen ExAC TOPMed |
|
|
rs1596537255 CA393204316 |
16 | V>G | No |
ClinGen Ensembl |
|
|
rs1257360896 CA393204314 |
16 | V>L | No |
ClinGen gnomAD |
|
|
rs1258400186 CA393204319 |
17 | L>V | No |
ClinGen gnomAD |
|
|
CA7628352 rs752091317 |
18 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 20 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567261358 CA393204342 |
21 | I>L | No |
ClinGen Ensembl |
|
|
rs1253760467 CA393204355 |
22 | K>N | No |
ClinGen gnomAD |
|
|
rs755346707 CA7628353 |
23 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7628354 rs781504572 |
24 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393204374 rs1243988565 |
25 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748399659 CA7628355 |
27 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376634815 CA393204389 |
28 | A>P | No |
ClinGen TOPMed |
|
|
rs1471213104 CA393204418 |
32 | T>A | No |
ClinGen gnomAD |
|
|
CA393204421 rs1596537338 |
32 | T>R | No |
ClinGen Ensembl |
|
|
CA272564625 rs983670339 |
33 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393204444 rs1397593270 |
36 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs959785700 CA272564640 |
36 | G>R | No |
ClinGen Ensembl |
|
|
rs772020696 CA7628363 |
37 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772020696 CA272564656 |
37 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760421609 CA393204464 |
39 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA272564687 rs151326361 |
39 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776344597 CA7628367 |
41 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1241648351 CA393204523 |
44 | V>M | No |
ClinGen TOPMed |
|
|
CA7628388 rs772729309 |
46 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777083119 CA272569205 |
47 | V>L | No |
ClinGen ExAC |
|
|
CA7628389 rs777083119 |
47 | V>M | No |
ClinGen ExAC |
|
|
rs753187611 CA7628391 |
48 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768079332 CA7628390 |
48 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1337101627 CA393205769 |
49 | G>R | No |
ClinGen gnomAD |
|
|
CA7628392 rs756517702 |
50 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA272569260 rs199977837 |
51 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA393205859 rs1431015908 |
56 | T>A | No |
ClinGen TOPMed |
|
|
rs1230333093 CA393205883 |
58 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376464843 CA7628394 |
58 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765565881 CA7628415 |
63 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1255666797 CA393206958 |
64 | D>G | No |
ClinGen TOPMed |
|
|
rs750663318 CA7628416 |
66 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393206992 rs1406153876 COSM234270 COSM234271 |
69 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM194333 rs1277129284 CA393206993 COSM194334 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs758602136 CA7628417 |
70 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA393207021 rs1596562341 |
74 | S>R | No |
ClinGen Ensembl |
|
|
rs751579877 CA7628419 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs367973577 CA7628420 |
80 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7628422 rs748041362 |
81 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781247733 CA7628439 |
87 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393207183 rs760399190 |
94 | V>I | No |
ClinGen gnomAD |
|
|
CA272579860 rs760399190 |
94 | V>L | No |
ClinGen gnomAD |
|
|
rs532534784 CA7628441 |
96 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7628442 rs777501030 |
97 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs552679065 CA7628443 |
99 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1403015408 CA393207224 |
100 | E>A | No |
ClinGen gnomAD |
|
|
rs141291231 CA7628444 |
104 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141291231 CA7628445 |
104 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7628446 rs745452650 |
106 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1374232 COSM1374233 CA7628447 rs771473899 |
107 | R>I | large_intestine Variant assessed as Somatic; 4.759e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs145063072 CA7628464 |
109 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1278220149 CA393207674 |
110 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA272580415 rs71400372 |
111 | P>L | No |
ClinGen Ensembl |
|
|
CA393207684 rs757969715 |
112 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628465 rs757969715 |
112 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628467 rs748713473 |
115 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3690654 COSM3690655 CA7628466 rs532904399 |
115 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs56241934 VAR_040823 CA7628468 |
118 | H>R | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1201907042 CA393207727 |
119 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs995772379 CA272580416 |
121 | K>M | No |
ClinGen Ensembl |
|
|
CA393207759 rs1567291858 |
122 | V>L | No |
ClinGen Ensembl |
|
|
CA272580520 rs79545497 |
125 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7628493 rs79545497 |
125 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772116049 CA7628491 |
125 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401115870 CA393207785 |
127 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7628495 rs776595115 |
127 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7628497 rs138101245 |
128 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762673194 CA7628499 |
129 | S>F | No |
ClinGen ExAC |
|
|
rs551083005 CA7628500 |
131 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373597404 CA7628502 |
134 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393207831 rs1351728147 |
134 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7628504 rs567792597 |
136 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142567160 CA7628503 |
136 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7628505 rs201962578 |
138 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393207867 rs1267171619 |
140 | L>F | No |
ClinGen gnomAD |
|
|
rs771163611 CA393207872 |
141 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628507 rs567729373 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7628506 rs771163611 |
141 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393207894 rs1210064603 |
144 | S>N | No |
ClinGen TOPMed |
|
|
rs755678613 CA7628523 |
146 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1381529901 CA393207922 |
146 | K>R | No |
ClinGen gnomAD |
|
|
rs765718143 CA7628524 |
147 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1490210690 CA393207934 |
148 | S>P | No |
ClinGen TOPMed |
|
|
rs1220971652 CA393207947 |
150 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7628527 rs780431270 |
152 | L>Q | No |
ClinGen ExAC |
|
|
rs755138084 CA7628531 |
155 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs368455000 CA7628533 |
157 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371889366 CA7628534 |
158 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393208004 rs1298751670 |
159 | G>R | No |
ClinGen TOPMed |
|
|
CA7628536 rs28730807 |
160 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774422231 CA7628556 |
161 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628557 rs745711499 |
162 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272582918 rs752149480 |
164 | Q>R | No |
ClinGen Ensembl |
|
|
CA393208335 rs1207397549 |
165 | D>G | No |
ClinGen gnomAD |
|
|
rs771967859 CA7628558 |
166 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7628559 rs533112505 |
167 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760337605 CA7628560 |
167 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs760337605 CA393208347 |
167 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs760337605 COSM1257249 CA393208346 COSM1257248 |
167 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA272582926 rs921657830 |
168 | Y>D | No |
ClinGen TOPMed |
|
|
rs776152945 CA7628562 |
169 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628561 rs763537687 |
169 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487392260 CA393208364 |
170 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751430797 CA7628564 |
171 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393208375 rs1239054483 |
172 | L>P | No |
ClinGen gnomAD |
|
|
CA7628566 rs759944551 |
174 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7628565 rs752048890 |
174 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268743825 CA393208394 |
175 | G>V | No |
ClinGen TOPMed |
|
|
rs752937922 CA7628568 |
176 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1487676641 CA393208411 |
178 | G>D | No |
ClinGen TOPMed |
|
|
CA7628570 rs777718253 |
180 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7628572 rs181219518 |
182 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217339126 CA393208456 |
183 | A>G | No |
ClinGen gnomAD |
|
|
rs1341381315 CA393208453 |
183 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373083413 CA7628598 |
184 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393208470 rs1443176778 |
185 | H>L | No |
ClinGen gnomAD |
|
|
CA7628599 rs780002929 |
187 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393208485 rs1475200292 |
188 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240996513 CA393208507 |
191 | I>L | No |
ClinGen TOPMed |
|
|
rs768324135 CA7628601 |
192 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393208536 rs1426326184 |
195 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393208669 rs1238351337 |
206 | Q>R | No |
ClinGen gnomAD |
|
|
CA393208693 rs1266572058 |
209 | I>S | No |
ClinGen gnomAD |
|
|
rs939811895 CA272590103 |
210 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393208709 rs1440589182 |
211 | S>F | No |
ClinGen TOPMed |
|
|
rs1272921768 CA393208712 |
212 | E>* | No |
ClinGen gnomAD |
|
|
CA393208742 rs1333600984 |
216 | L>F | No |
ClinGen TOPMed |
|
|
rs766339386 CA7628636 |
217 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628650 rs770261138 |
220 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256212343 CA393208783 |
220 | D>V | No |
ClinGen gnomAD |
|
|
rs770261138 CA7628651 |
220 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348547852 CA393208791 |
221 | S>L | No |
ClinGen gnomAD |
|
|
CA7628653 rs141385762 |
223 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393208802 rs141385762 |
223 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201636416 CA7628654 |
224 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7628655 rs375915169 |
225 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7628656 rs375915169 |
225 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393208820 rs1172219303 |
226 | G>E | No |
ClinGen gnomAD |
|
|
rs752608928 CA7628657 |
228 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461652088 CA393208843 |
229 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1303558998 CA393208847 |
230 | A>E | No |
ClinGen gnomAD |
|
|
rs1156475614 CA393208844 |
230 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763833942 CA7628659 |
233 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760498570 CA7628658 |
233 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312819121 CA393208882 |
235 | N>S | No |
ClinGen gnomAD |
|
|
CA7628660 rs753508738 |
239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756798955 CA7628661 |
241 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA393208977 rs150713138 |
247 | G>* | No |
ClinGen ESP gnomAD |
|
|
rs150713138 CA272592496 |
247 | G>R | No |
ClinGen ESP gnomAD |
|
|
rs1452773752 CA393208980 |
247 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966851216 CA272592502 |
250 | D>E | No |
ClinGen Ensembl |
|
|
CA7628679 rs761666101 |
251 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757887512 CA7628682 |
253 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs528470064 CA272592528 |
258 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756632856 CA7628685 |
260 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA272592555 rs139491783 |
262 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA393209085 rs1224911122 |
263 | I>T | No |
ClinGen gnomAD |
|
|
rs778418925 CA7628686 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7628707 rs757593426 |
267 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7628709 rs202194867 |
270 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758545538 CA7628711 |
274 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1397637470 CA393209174 |
275 | W>* | No |
ClinGen TOPMed |
|
|
CA393209169 rs1334722215 |
275 | W>R | No |
ClinGen TOPMed |
|
|
rs1399761794 CA393209202 |
279 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393209220 rs1272476366 |
281 | H>Q | No |
ClinGen gnomAD |
|
|
CA393209229 rs1311947524 |
283 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 285 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468514660 CA393209445 |
288 | N>S | No |
ClinGen gnomAD |
|
|
CA272635830 rs965728122 |
289 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777569006 CA7628737 |
289 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393209461 rs1394937700 |
291 | V>I | No |
ClinGen gnomAD |
|
|
CA393209468 rs1307352938 |
292 | N>D | No |
ClinGen TOPMed |
|
|
CA7628738 rs749143178 |
295 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA393209494 rs1271491284 |
296 | Q>E | No |
ClinGen TOPMed |
|
|
CA7628739 rs376882213 |
296 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187434289 CA393209549 |
304 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1392065155 CA393209558 |
305 | S>N | No |
ClinGen gnomAD |
|
|
CA393209603 rs1394429455 |
310 | N>S | No |
ClinGen gnomAD |
|
|
CA272636712 rs764081010 |
315 | T>K | No |
ClinGen Ensembl |
|
|
CA272636754 rs145636235 |
323 | M>I | No |
ClinGen Ensembl |
|
|
rs774989998 CA7628761 |
323 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs760284047 CA7628762 |
324 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272642169 rs796075784 |
325 | P>H | No |
ClinGen Ensembl |
|
|
rs1259963786 CA393209860 |
328 | I>V | No |
ClinGen gnomAD |
|
|
rs1446412641 CA393209884 |
330 | G>R | No |
ClinGen TOPMed |
|
|
rs1023920781 CA272642170 |
332 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7628786 rs759983588 |
341 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540623937 CA272642171 |
346 | F>S | No |
ClinGen Ensembl |
|
|
rs147171817 CA7628789 |
347 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455699908 CA393210020 |
347 | M>T | No |
ClinGen gnomAD |
|
|
rs1040507273 CA272646540 |
351 | L>V | No |
ClinGen gnomAD |
|
|
CA272646541 rs140869674 |
352 | G>R | No |
ClinGen ESP |
|
|
CA272646545 rs369963694 |
355 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1455767817 CA393210205 |
355 | P>S | No |
ClinGen TOPMed |
|
|
CA393209246 rs1301565819 |
359 | I>F | No |
ClinGen TOPMed |
|
|
CA393209276 rs1393865234 |
363 | Q>E | No |
ClinGen Ensembl |
|
|
CA393209287 rs1309361032 |
364 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393209283 rs1273893346 |
364 | G>R | No |
ClinGen gnomAD |
|
|
CA393209288 rs1309361032 |
364 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7628830 rs762079821 |
365 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs770008548 CA7628831 |
365 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393209299 rs1596902861 |
366 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 368 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242375924 CA393209343 |
371 | L>V | No |
ClinGen gnomAD |
|
|
rs1186189745 CA393209376 |
376 | V>I | No |
ClinGen gnomAD |
|
|
CA393209386 rs1316754912 |
377 | D>V | No |
ClinGen Ensembl |
|
|
CA7628866 rs769775880 |
380 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7628868 rs755476231 |
381 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7628870 rs748584528 |
382 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7628873 rs749489821 |
385 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA393209757 rs1441806360 |
387 | E>G | No |
ClinGen TOPMed |
|
|
rs199695560 CA7628874 |
389 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393209801 rs1596943296 |
393 | V>A | No |
ClinGen Ensembl |
|
|
rs1483595719 CA393209833 |
396 | I>V | No |
ClinGen TOPMed |
|
|
CA393209848 rs1271109757 |
397 | T>A | No |
ClinGen gnomAD |
|
|
CA7628876 rs745939123 |
398 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7628892 rs190691573 |
401 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA272658354 rs376885526 |
404 | P>L | No |
ClinGen ESP |
|
|
CA393210126 rs1195833880 |
411 | E>D | No |
ClinGen gnomAD |
|
|
CA392961006 rs1361368809 |
415 | G>D | No |
ClinGen gnomAD |
|
|
rs1464896144 CA392961011 |
416 | H>Y | No |
ClinGen gnomAD |
|
|
CA272380759 rs915789586 |
417 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA392961017 rs1566971035 |
417 | P>S | No |
ClinGen Ensembl |
|
|
CA392961036 rs746926291 |
419 | I>M | No |
ClinGen ExAC TOPMed |
|
|
rs1043272428 CA272380765 |
420 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7628918 rs374645558 |
424 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1203207707 CA392961076 |
425 | G>E | No |
ClinGen gnomAD |
|
|
rs1362192081 CA392961083 |
426 | N>S | No |
ClinGen TOPMed |
|
|
rs1566971053 CA618690533 |
426 | N>S | No |
ClinGen Ensembl |
|
|
CA392961092 VAR_040824 rs1226964455 |
427 | A>V | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA7628922 rs55811347 |
428 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs55811347 CA7628921 VAR_046070 |
428 | A>T | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA392961097 rs900952057 |
429 | V>L | No |
ClinGen TOPMed |
|
|
rs900952057 CA272380784 |
429 | V>M | No |
ClinGen TOPMed |
|
|
CA392961104 rs1162673447 |
430 | V>L | No |
ClinGen TOPMed |
|
|
rs923858985 CA272380785 |
431 | S>C | No |
ClinGen TOPMed |
|
|
rs932283103 CA272380786 |
432 | M>I | No |
ClinGen Ensembl |
|
|
CA392961147 rs1246372955 |
436 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1246372955 CA392961145 |
436 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7628923 rs762647820 |
436 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7628924 rs770581875 |
437 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628925 rs55877854 |
437 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754268497 CA7628928 |
440 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA392961179 rs765534774 |
442 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628930 rs765534774 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7628929 rs762268601 |
442 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA272380828 rs947851338 |
444 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 445 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM98990 rs187760642 CA7628932 |
445 | Q>E | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA392961203 rs1217411363 |
446 | G>R | No |
ClinGen gnomAD |
|
|
CA392961214 rs1329636592 |
447 | P>L | No |
ClinGen gnomAD |
|
|
CA7628933 rs780252078 |
448 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1566971091 | 449 | P>W | No | Ensembl | |
|
rs1328729766 CA392961226 |
449 | P>W | No |
ClinGen gnomAD |
No associated diseases with Q13163
10 regional properties for Q13163
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 125 - 184 | IPR001452-1 |
| domain | SH3 domain | 187 - 252 | IPR001452-2 |
| domain | SH3 domain | 382 - 443 | IPR001452-3 |
| domain | Zinc finger, RING-type | 12 - 53 | IPR001841 |
| conserved_site | Zinc finger, RING-type, conserved site | 28 - 37 | IPR017907 |
| domain | Zinc finger, C3HC4 RING-type | 12 - 52 | IPR018957 |
| domain | E3 ubiquitin-protein ligase SH3RF2, RING finger, HC subclass | 11 - 55 | IPR028511 |
| domain | E3 ubiquitin-protein ligase SH3RF2, first SH3 domain | 128 - 181 | IPR035792 |
| domain | E3 ubiquitin-protein ligase SH3RF2, second SH3 domain | 191 - 247 | IPR035794 |
| domain | SH3RF2, third SH3 domain | 386 - 440 | IPR035822 |
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| 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. |
7 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. |
| metal ion binding | Binding to a metal ion. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to 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 growth factor stimulus. |
| cellular response to laminar fluid shear stress | 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 laminar fluid shear stress stimulus. Laminar fluid flow is the force acting on an object in a system where the fluid is moving across a solid surface in parallel layers. |
| ERK5 cascade | An intracellular protein kinase cascade containing at least ERK5 (also called BMK1; a MAPK), a MEK (a MAPKK) and a MAP3K. The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| 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. |
| 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: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| negative regulation of cell migration involved in sprouting angiogenesis | Any process that decreases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis. |
| negative regulation of chemokine (C-X-C motif) ligand 2 production | Any process that stops, prevents or reduces the frequency, rate or extent of chemokine (C-X-C motif) ligand 2 production. |
| negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process. |
| negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand. |
| negative regulation of heterotypic cell-cell adhesion | Any process that stops, prevents, or reduces the frequency, rate, or extent of heterotypic cell-cell adhesion. |
| negative regulation of interleukin-8 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-8 production. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of response to cytokine stimulus | Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| positive regulation of epithelial cell proliferation | Any process that activates or increases the rate or extent of epithelial cell proliferation. |
| positive regulation of MAP kinase activity | Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
| positive regulation of protein metabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| 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. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32491 | MKK2 | MAP kinase kinase MKK2/SSP33 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32490 | MKK1 | MAP kinase kinase MKK1/SSP32 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q90891 | MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 | Gallus gallus (Chicken) | PR |
| Q9XT09 | MAP2K1 | Dual specificity mitogen-activated protein kinase kinase 1 | Pan troglodytes (Chimpanzee) | PR |
| Q24324 | Dsor1 | Dual specificity mitogen-activated protein kinase kinase dSOR1 | Drosophila melanogaster (Fruit fly) | PR |
| 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 |
| P46734 | MAP2K3 | Dual specificity mitogen-activated protein kinase kinase 3 | Homo sapiens (Human) | SS |
| P45985 | MAP2K4 | Dual specificity mitogen-activated protein kinase kinase 4 | Homo sapiens (Human) | EV |
| 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 |
| P31938 | Map2k1 | Dual specificity mitogen-activated protein kinase kinase 1 | Mus musculus (Mouse) | PR |
| Q63932 | Map2k2 | Dual specificity mitogen-activated protein kinase kinase 2 | Mus musculus (Mouse) | PR |
| Q9WVS7 | Map2k5 | Dual specificity mitogen-activated protein kinase kinase 5 | Mus musculus (Mouse) | PR |
| Q01986 | Map2k1 | Dual specificity mitogen-activated protein kinase kinase 1 | Rattus norvegicus (Rat) | PR |
| P36506 | Map2k2 | Dual specificity mitogen-activated protein kinase kinase 2 | Rattus norvegicus (Rat) | SS |
| Q62862 | Map2k5 | Dual specificity mitogen-activated protein kinase kinase 5 | Rattus norvegicus (Rat) | PR |
| Q5QN75 | MKK1 | Mitogen-activated protein kinase kinase 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q10664 | mek-2 | Dual specificity mitogen-activated protein kinase kinase mek-2 | Caenorhabditis elegans | PR |
| Q9FJV0 | MKK6 | Mitogen-activated protein kinase kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9S7U9 | MKK2 | Mitogen-activated protein kinase kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A06 | MKK1 | Mitogen-activated protein kinase kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLWLALGPFP | AMENQVLVIR | IKIPNSGAVD | WTVHSGPQLL | FRDVLDVIGQ | VLPEATTTAF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EYEDEDGDRI | TVRSDEEMKA | MLSYYYSTVM | EQQVNGQLIE | PLQIFPRACK | PPGERNIHGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVNTRAGPSQ | HSSPAVSDSL | PSNSLKKSSA | ELKKILANGQ | MNEQDIRYRD | TLGHGNGGTV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YKAYHVPSGK | ILAVKVILLD | ITLELQKQIM | SELEILYKCD | SSYIIGFYGA | FFVENRISIC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TEFMDGGSLD | VYRKMPEHVL | GRIAVAVVKG | LTYLWSLKIL | HRDVKPSNML | VNTRGQVKLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DFGVSTQLVN | SIAKTYVGTN | AYMAPERISG | EQYGIHSDVW | SLGISFMELA | LGRFPYPQIQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KNQGSLMPLQ | LLQCIVDEDS | PVLPVGEFSE | PFVHFITQCM | RKQPKERPAP | EELMGHPFIV |
| 430 | 440 | ||||
| QFNDGNAAVV | SMWVCRALEE | RRSQQGPP |