O43353
PR
Gene name |
RIPK2 (CARDIAK, RICK, RIP2) |
Protein name |
Receptor-interacting serine/threonine-protein kinase 2 |
Names |
CARD-containing interleukin-1 beta-converting enzyme-associated kinase, CARD-containing IL-1 beta ICE-kinase, RIP-like-interacting CLARP kinase, Receptor-interacting protein 2, RIP-2, Tyrosine-protein kinase RIPK2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8767 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
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
163-191 (Activation loop from InterPro)
Target domain |
18-294 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
32 structures for O43353
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2N7Z | NMR | - | A | 434-539 | PDB |
| 2N83 | NMR | - | B | 434-539 | PDB |
| 4C8B | X-ray | 275 A | A/B | 8-317 | PDB |
| 5AR2 | X-ray | 244 A | A/B | 1-310 | PDB |
| 5AR3 | X-ray | 323 A | A/B | 1-310 | PDB |
| 5AR4 | X-ray | 270 A | A/B | 1-310 | PDB |
| 5AR5 | X-ray | 266 A | A/B | 1-310 | PDB |
| 5AR7 | X-ray | 271 A | A/B | 1-310 | PDB |
| 5AR8 | X-ray | 279 A | A/B | 1-310 | PDB |
| 5J79 | X-ray | 269 A | A/B | 1-310 | PDB |
| 5J7B | X-ray | 253 A | A/B | 1-310 | PDB |
| 5NG0 | X-ray | 200 A | A/B | 1-300 | PDB |
| 5NG2 | X-ray | 280 A | A/B | 1-300 | PDB |
| 5NG3 | X-ray | 260 A | A/B/C/D | 1-300 | PDB |
| 5W5J | X-ray | 285 A | A/B | 2-311 | PDB |
| 5W5O | X-ray | 289 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 2-311 | PDB |
| 5YRN | EM | 410 A | A/B/C/D/E/F/G/H/I/J/K/L | 434-540 | PDB |
| 6ES0 | X-ray | 238 A | A/B | 3-317 | PDB |
| 6FU5 | X-ray | 326 A | A/B | 3-317 | PDB |
| 6GFJ | X-ray | 330 A | A/B/C/D | 435-540 | PDB |
| 6GGS | EM | 394 A | A/B/C/D/E/F/G/H/I/J | 431-540 | PDB |
| 6HMX | X-ray | 253 A | A/B | 1-310 | PDB |
| 6RN8 | X-ray | 269 A | A/B | 1-310 | PDB |
| 6RNA | X-ray | 262 A | A/B | 1-310 | PDB |
| 6S1F | X-ray | 311 A | A/B/C/D | 3-317 | PDB |
| 6SZE | X-ray | 294 A | A/B | 1-310 | PDB |
| 6SZJ | X-ray | 253 A | A/B | 1-310 | PDB |
| 6UL8 | X-ray | 268 A | A/B | 5-310 | PDB |
| 7OBS | X-ray | 180 A | B | 530-540 | PDB |
| 7OBT | X-ray | 230 A | B | 530-540 | PDB |
| 8AZA | EM | 315 A | A/B | 1-317 | PDB |
| AF-O43353-F1 | Predicted | AlphaFoldDB |
342 variants for O43353
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA181229027 rs866325146 |
3 | G>E | No |
ClinGen Ensembl |
|
|
rs1189884580 CA371651236 |
5 | A>D | No |
ClinGen gnomAD |
|
|
rs780464627 CA4801844 |
5 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891468710 CA181229029 |
7 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 8 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181229030 rs913453732 |
9 | A>P | No |
ClinGen TOPMed |
|
|
CA181229032 rs11558818 |
11 | P>H | No |
ClinGen Ensembl |
|
|
rs1301878036 CA371651290 |
14 | P>A | No |
ClinGen gnomAD |
|
|
rs1301878036 CA371651291 |
14 | P>T | No |
ClinGen gnomAD |
|
|
CA4801851 rs138256567 |
16 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4801852 rs202204060 |
17 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371651327 rs942850507 |
19 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371651323 rs1219738031 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA181229033 rs942850507 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200206389 CA181229034 |
20 | D>N | No |
ClinGen TOPMed |
|
|
CA4801853 rs201325791 |
22 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4801854 rs759372563 |
22 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA371651343 rs759372563 |
22 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs201325791 CA371651340 |
22 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371651348 rs1238122236 |
23 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371651384 rs1415561639 |
29 | S>P | No |
ClinGen gnomAD |
|
|
rs1187004679 CA371651389 |
30 | G>S | No |
ClinGen gnomAD |
|
|
CA4801856 rs775449464 |
33 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs760117427 CA4801857 |
34 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1430938660 CA371651413 |
34 | S>P | No |
ClinGen gnomAD |
|
|
CA371651418 rs1395168072 |
35 | A>P | No |
ClinGen gnomAD |
|
|
CA371651443 rs1360249783 |
39 | D>N | No |
ClinGen gnomAD |
|
|
CA371651470 rs1401040017 |
42 | V>A | No |
ClinGen gnomAD |
|
|
rs199587269 CA181229039 |
43 | Q>R | No |
ClinGen gnomAD |
|
|
rs1586113517 CA371651483 |
44 | V>G | No |
ClinGen Ensembl |
|
|
rs200399465 CA181229040 |
44 | V>M | No |
ClinGen gnomAD |
|
|
rs1401126731 CA371651507 |
48 | H>P | No |
ClinGen TOPMed |
|
|
rs1301996926 CA371651506 |
48 | H>Y | No |
ClinGen gnomAD |
|
|
CA371651521 rs1238194069 |
50 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371651519 rs1350172953 |
50 | H>Y | No |
ClinGen gnomAD |
|
|
CA371651538 rs1352687000 |
52 | H>Q | No |
ClinGen gnomAD |
|
|
rs756962812 CA4801860 |
53 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs756962812 CA371651544 |
53 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1243773158 CA371651548 |
54 | P>Q | No |
ClinGen gnomAD |
|
|
rs1334235676 CA371651555 |
55 | L>R | No |
ClinGen Ensembl |
|
|
CA371651558 rs1253031794 |
56 | L>F | No |
ClinGen gnomAD |
|
|
rs1156432189 CA371651564 |
57 | D>A | No |
ClinGen gnomAD |
|
|
rs1156432189 CA371651565 |
57 | D>G | No |
ClinGen gnomAD |
|
|
CA181229043 rs1027469970 |
57 | D>H | No |
ClinGen gnomAD |
|
|
CA371651563 rs1027469970 |
57 | D>Y | No |
ClinGen gnomAD |
|
|
CA371651572 rs1417273473 |
58 | S>N | No |
ClinGen TOPMed |
|
|
CA371651591 rs1313323354 |
59 | E>* | No |
ClinGen gnomAD |
|
|
rs1216766209 CA371651596 |
59 | E>D | No |
ClinGen gnomAD |
|
|
rs1357107852 CA371651594 |
59 | E>V | No |
ClinGen gnomAD |
|
|
rs1269483557 CA371651598 |
60 | R>G | No |
ClinGen gnomAD |
|
|
rs1563609680 CA371651617 |
62 | D>E | No |
ClinGen Ensembl |
|
|
CA4801885 rs764903626 |
62 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA181229477 rs202051711 |
66 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4801887 rs755314512 |
75 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211139281 CA371651746 |
81 | I>V | No |
ClinGen gnomAD |
|
|
CA181229480 rs767859973 |
88 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4801888 rs767859973 |
88 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586117213 CA371651801 |
89 | E>Q | No |
ClinGen Ensembl |
|
|
CA371651813 rs1374082877 |
90 | F>C | No |
ClinGen gnomAD |
|
|
CA4801890 rs567345103 |
93 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371651840 rs1471645581 |
94 | V>G | No |
ClinGen TOPMed |
|
|
CA371651845 rs1563609725 |
95 | T>I | No |
ClinGen Ensembl |
|
|
CA4801893 rs537563371 |
102 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200818100 CA4801894 |
104 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200818100 CA181229481 |
104 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371651915 rs1397856124 |
105 | E>V | No |
ClinGen gnomAD |
|
|
CA4801895 rs746035458 |
108 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4801897 rs779958169 |
109 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs200012651 CA181229694 |
111 | T>S | No |
ClinGen Ensembl |
|
|
CA371651966 rs1374289085 |
112 | E>K | No |
ClinGen gnomAD |
|
|
rs748015352 CA4801919 |
117 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs748015352 CA371652003 |
117 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1102309 rs769723718 CA4801920 |
123 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4801921 rs200964555 |
123 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1007442078 CA181229696 |
127 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4801925 rs761133411 |
135 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1418778571 CA371652128 |
136 | H>P | No |
ClinGen gnomAD |
|
|
CA4801926 rs764485287 |
136 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371652147 rs1182771147 |
138 | M>I | No |
ClinGen gnomAD |
|
|
rs965877818 CA181229697 |
139 | T>I | No |
ClinGen TOPMed |
|
|
CA181229698 rs769606788 |
143 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999825939 CA181229699 |
157 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765640588 CA4801929 |
158 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4801930 rs750558136 |
159 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA371652333 rs1307014858 |
163 | A>E | No |
ClinGen gnomAD |
|
|
rs773549878 CA4801950 |
170 | W>R | No |
ClinGen ExAC gnomAD |
|
|
COSM198218 CA4801951 rs763096134 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766308833 CA4801952 |
171 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371652391 rs751621342 |
172 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4801954 rs141768697 |
172 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4801953 rs751621342 |
172 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA371652403 rs1427415903 CA371652405 |
173 | M>I | No |
ClinGen gnomAD |
|
|
CA4801955 rs767708923 |
173 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs202080836 CA4801957 |
179 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371652463 rs1416952921 |
182 | K>N | No |
ClinGen gnomAD |
|
|
CA181230064 rs763428915 |
182 | K>T | No |
ClinGen gnomAD |
|
|
rs890926707 CA181230065 |
183 | S>C | No |
ClinGen TOPMed |
|
|
CA4801959 rs749124389 |
184 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA181230066 rs147448769 |
185 | P>S | No |
ClinGen 1000Genomes |
|
|
CA371652488 rs1165626382 |
187 | G>R | No |
ClinGen gnomAD |
|
|
CA181230067 rs950856196 |
188 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 188 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757206933 CA4801960 |
191 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201424642 CA181230069 |
195 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 196 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157021503 CA371652575 |
199 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778354640 CA4801961 |
203 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371652610 rs1586122314 |
204 | S>L | No |
ClinGen Ensembl |
|
|
CA4801963 rs529551104 |
206 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200839340 CA181230070 |
207 | S>R | No |
ClinGen Ensembl |
|
|
rs1479686176 CA371652634 |
208 | I>S | No |
ClinGen TOPMed |
|
|
rs201397208 CA181230072 |
208 | I>V | No |
ClinGen TOPMed |
|
|
rs879490533 CA181230073 |
211 | D>N | No |
ClinGen gnomAD |
|
|
CA371652660 rs1187566330 |
212 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 215 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4801984 rs778062446 |
217 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1586123649 CA371652723 |
219 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 220 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269644570 CA371652744 |
222 | V>L | No |
ClinGen gnomAD |
|
|
rs749629409 CA4801985 |
223 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs201490684 CA181230243 |
224 | S>P | No |
ClinGen Ensembl |
|
|
CA4801986 rs771367917 CA371652765 |
225 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759619568 CA4801988 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201631696 CA181230330 |
234 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA371652853 rs1205800237 |
236 | L>F | No |
ClinGen TOPMed |
|
|
CA371652875 rs1344325531 |
239 | M>I | No |
ClinGen TOPMed |
|
|
CA181230331 rs996847816 |
240 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1444626113 CA371652888 |
241 | S>N | No |
ClinGen gnomAD |
|
|
CA4802005 rs749649682 |
246 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414129190 CA371652933 |
248 | P>S | No |
ClinGen gnomAD |
|
|
rs771263919 CA371652938 |
249 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771263919 CA4802006 |
249 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371652946 rs746433286 |
250 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746433286 CA4802008 |
250 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315232416 CA371652943 |
250 | I>V | No |
ClinGen TOPMed |
|
|
rs1271675858 CA371652977 |
254 | S>I | No |
ClinGen gnomAD |
|
|
rs1206158101 CA371652989 |
256 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4802012 rs768782365 |
259 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4802011 rs2230801 VAR_041045 |
259 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4802010 rs373852693 |
259 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4802013 rs375657882 |
260 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202156416 CA181230332 |
261 | H>Y | No |
ClinGen TOPMed |
|
|
rs1474468316 CA371653026 |
262 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4802014 rs761517125 |
262 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2230802 CA4802016 |
263 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371653029 rs1420296684 |
263 | A>T | No |
ClinGen gnomAD |
|
|
CA4802015 rs2230802 |
263 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368538168 CA4802017 |
264 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766384952 CA4802018 |
264 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313416796 CA371653045 CA371653043 |
265 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371653038 rs1413883826 |
265 | M>V | No |
ClinGen gnomAD |
|
|
rs751075961 CA4802019 |
266 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA181230333 rs939009291 |
267 | S>F | No |
ClinGen TOPMed |
|
|
CA371653053 rs1428536421 |
267 | S>P | No |
ClinGen gnomAD |
|
|
rs35004667 CA181230334 |
268 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4802020 rs35004667 RCV000974238 VAR_041046 |
268 | L>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4802021 rs767085049 |
271 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA371653094 rs1347626972 |
273 | W>* | No |
ClinGen gnomAD |
|
|
CA4802023 rs755752832 |
274 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA371653119 rs1242895924 |
277 | P>T | No |
ClinGen TOPMed |
|
|
rs1282902663 CA371653132 |
279 | E>K | No |
ClinGen gnomAD |
|
|
CA371653171 rs1445826910 |
284 | L>* | No |
ClinGen gnomAD |
|
|
rs766454597 CA4802036 |
285 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774282403 CA4802037 |
290 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371653228 rs1167871635 |
291 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 291 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371653238 rs1379187133 |
292 | P>S | No |
ClinGen gnomAD |
|
|
CA371653245 rs1468363560 |
293 | V>A | No |
ClinGen gnomAD |
|
|
CA4802039 rs767115487 |
293 | V>L | No |
ClinGen ExAC |
|
|
rs374514969 CA181231065 |
294 | L>S | No |
ClinGen ESP |
|
|
CA371653273 rs1356110352 |
297 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113501262 CA4802042 |
300 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371653297 rs1323373711 |
301 | T>A | No |
ClinGen gnomAD |
|
|
rs750809016 CA4802043 |
302 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4802044 rs199715424 |
304 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA181231066 rs199715424 |
304 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1325064724 CA371653325 |
305 | A>G | No |
ClinGen gnomAD |
|
|
CA4802045 rs780429108 |
308 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA181231067 rs200899275 |
309 | L>V | No |
ClinGen Ensembl |
|
|
rs1280503756 CA371653371 |
312 | T>R | No |
ClinGen gnomAD |
|
|
CA181231068 rs35395048 VAR_041047 CA4802047 |
313 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs756199484 CA4802069 |
315 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4802070 rs778159445 |
316 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749582809 CA4802071 |
319 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181234194 rs201291360 |
320 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4802072 rs201291360 |
320 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371653435 rs1347847534 |
321 | I>V | No |
ClinGen TOPMed |
|
|
CA4802073 rs778810847 |
323 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1401180598 CA371653467 |
325 | D>E | No |
ClinGen TOPMed |
|
|
CA371653534 rs201740409 |
334 | N>K | No |
ClinGen gnomAD |
|
|
CA371653531 rs1166370593 |
334 | N>T | No |
ClinGen gnomAD |
|
|
CA371653544 rs1586132900 |
336 | P>S | No |
ClinGen Ensembl |
|
|
CA4802074 rs199850869 |
337 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201164963 CA181234207 |
338 | N>I | No |
ClinGen Ensembl |
|
|
CA371653563 rs1461207787 |
339 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4802076 rs775367380 |
340 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4802077 rs760181554 |
341 | P>T | No |
ClinGen ExAC |
|
|
rs202109387 CA181234221 |
342 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1439222979 CA371653581 |
342 | Q>K | No |
ClinGen TOPMed |
|
|
CA4802079 rs768096026 |
343 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1312808738 CA371653586 |
343 | E>K | No |
ClinGen gnomAD |
|
|
rs1347990421 CA371653616 |
345 | S>L | No |
ClinGen TOPMed |
|
|
rs200625019 CA181235860 |
346 | C>Y | No |
ClinGen Ensembl |
|
|
CA371653626 rs1326771069 |
347 | G>E | No |
ClinGen gnomAD |
|
|
CA4802109 rs776156245 |
347 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA181235885 rs993040441 |
349 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747586469 CA4802110 |
349 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA371653637 rs993040441 |
349 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4802111 rs769505144 |
350 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1586134951 CA371653659 |
352 | H>Q | No |
ClinGen Ensembl |
|
|
rs1228906396 CA371653664 |
353 | E>G | No |
ClinGen gnomAD |
|
|
CA371653687 rs1158729919 |
356 | G>D | No |
ClinGen TOPMed |
|
|
rs1339588448 COSM1330879 CA371653697 |
358 | P>A | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 359 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489672843 CA371653727 CA371653728 |
362 | R>S | No |
ClinGen gnomAD |
|
|
rs200826927 CA4802117 |
363 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395652956 CA371653741 |
365 | P>S | No |
ClinGen gnomAD |
|
|
rs764677295 CA4802118 |
366 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753995384 CA4802119 |
369 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371653766 rs1436458833 |
369 | D>Y | No |
ClinGen gnomAD |
|
|
rs1415803974 CA371653772 |
370 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371653771 rs1415803974 |
370 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs757244288 CA4802120 |
370 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1314254 rs765502397 CA4802121 |
371 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs980774523 CA181235945 |
371 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4802137 rs201124230 |
376 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371653827 rs1309778730 |
376 | K>R | No |
ClinGen gnomAD |
|
|
CA181237699 rs201993178 |
377 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1447172803 CA371653835 |
377 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4802138 rs145012807 |
378 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4802139 rs765291407 |
379 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs750509459 CA4802140 |
380 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973622096 CA181237715 |
383 | M>K | No |
ClinGen Ensembl |
|
| TCGA novel | 383 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368231600 CA4802141 |
383 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4802142 rs200241122 |
384 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563620442 CA371653887 |
385 | L>M | No |
ClinGen Ensembl |
|
|
CA181237727 rs751375480 |
386 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4802143 rs751375480 |
386 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA371653892 rs1207827072 |
386 | H>Y | No |
ClinGen gnomAD |
|
|
rs754723982 CA4802144 |
387 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs781108500 CA4802145 |
388 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802146 rs752638518 |
389 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs756076763 CA4802147 |
391 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA371653941 rs1186159278 |
393 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 393 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371653956 rs1231896851 |
395 | D>H | No |
ClinGen TOPMed |
|
|
CA371653964 rs1451552895 |
396 | S>G | No |
ClinGen gnomAD |
|
|
rs748813619 CA4802149 |
396 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA371653977 rs1373362999 |
398 | I>V | No |
ClinGen gnomAD |
|
|
rs531775924 CA371654025 |
405 | A>E | No |
ClinGen 1000Genomes TOPMed |
|
|
CA181237793 rs531775924 |
405 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs778668625 CA371654038 |
407 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs994836045 CA181237812 |
407 | C>R | No |
ClinGen TOPMed |
|
|
rs778668625 CA4802152 |
407 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1359337096 CA371654061 |
410 | K>R | No |
ClinGen Ensembl |
|
|
rs148803672 CA371654066 |
411 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201134480 CA4802154 |
411 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201134480 CA181237813 |
411 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148803672 CA4802153 |
411 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371654075 rs762291963 |
413 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4802156 rs762291963 |
413 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1458226113 CA371654084 |
414 | C>Y | No |
ClinGen TOPMed |
|
|
rs894761828 CA181237838 |
415 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs773213853 CA4802158 |
417 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs773213853 CA371654102 |
417 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802159 rs200397135 |
424 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201155764 CA4802160 |
424 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371654149 rs1191383497 |
425 | A>S | No |
ClinGen TOPMed |
|
|
rs751711227 CA4802161 |
425 | A>V | No |
ClinGen ExAC |
|
|
CA371654168 rs1220992692 |
428 | S>A | No |
ClinGen Ensembl |
|
|
CA371654174 rs1244754458 |
429 | E>Q | No |
ClinGen TOPMed |
|
|
CA4802178 rs576345924 |
430 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4802179 rs201741198 |
430 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4802180 rs767761357 |
433 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371654217 rs1389649563 |
434 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs199907869 CA181238283 |
434 | G>C | No |
ClinGen Ensembl |
|
|
CA371654216 rs1389649563 |
434 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371654218 rs1389649563 |
434 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4802181 rs569494357 |
435 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1326003966 CA371654240 |
438 | Q>E | No |
ClinGen gnomAD |
|
|
rs760480302 CA371654245 |
438 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200769968 CA4802184 |
442 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA371654301 rs1458846133 |
446 | D>N | No |
ClinGen TOPMed |
|
|
rs749920938 CA371654311 |
447 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs749920938 CA4802187 |
447 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4802186 rs201993993 |
447 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758034935 CA4802188 |
450 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA371654328 rs1586137582 |
450 | Q>K | No |
ClinGen Ensembl |
|
|
CA371654332 rs1563620820 |
450 | Q>R | No |
ClinGen Ensembl |
|
|
CA371654353 rs1439350963 |
453 | E>A | No |
ClinGen gnomAD |
|
|
CA371654362 rs1291798689 |
454 | A>G | No |
ClinGen gnomAD |
|
|
rs151303469 CA4802189 |
459 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749849979 CA4802193 |
465 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473529633 CA371654429 |
465 | S>T | No |
ClinGen gnomAD |
|
|
CA371654444 rs1352173765 |
467 | D>A | No |
ClinGen TOPMed |
|
|
CA371654463 rs201181884 |
470 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201181884 CA4802194 |
470 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181238365 rs1055051598 |
471 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371654484 rs1394800606 |
472 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371654498 rs1429440025 |
474 | Y>C | No |
ClinGen gnomAD |
|
|
rs1214686090 CA371654512 |
476 | L>F | No |
ClinGen gnomAD |
|
|
rs201967341 CA181238372 |
477 | V>I | No |
ClinGen Ensembl |
|
|
CA4802197 rs772218220 |
487 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4802200 rs367938611 |
494 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 496 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4802201 rs776564323 |
497 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs761881471 CA4802202 |
497 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4802204 rs201504169 |
505 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4802203 rs201504169 |
505 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201094757 CA4802205 |
506 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321181189 CA371654751 |
511 | D>E | No |
ClinGen TOPMed |
|
|
rs767798817 CA4802206 |
515 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181238459 rs201728754 |
515 | M>V | No |
ClinGen Ensembl |
|
|
rs764791036 CA4802208 |
521 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs934848319 CA371654842 |
524 | L>P | No |
ClinGen TOPMed |
|
|
CA181238479 rs934848319 |
524 | L>R | No |
ClinGen TOPMed |
|
|
rs547545575 CA4802211 |
525 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371654843 rs1466616442 |
525 | V>M | No |
ClinGen TOPMed |
|
|
CA4802213 rs201561176 |
526 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4802212 rs779356255 |
526 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA371654857 rs1302724706 |
527 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA181238541 rs1051840757 |
529 | S>* | No |
ClinGen Ensembl |
|
|
CA4802215 rs775421386 |
534 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1563620987 CA371654904 |
535 | L>F | No |
ClinGen Ensembl |
|
|
CA181238555 rs962295271 |
539 | S>G | No |
ClinGen TOPMed |
|
|
CA4802216 rs371815685 |
539 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920444554 CA181238582 |
540 | M>K | No |
ClinGen TOPMed |
|
|
CA4802218 rs776615234 |
540 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
6 associated diseases with O43353
[MIM: 218040]: Costello syndrome (CSTLO)
A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 218040]: Congenital myopathy with excess of muscle spindles (CMEMS)
Variant of Costello syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 188470]: Thyroid cancer, non-medullary, 2 (NMTC2)
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 109800]: Bladder cancer (BLC)
A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 163200]: Schimmelpenning-Feuerstein-Mims syndrome (SFM)
A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. . Note=The disease is caused by variants affecting the gene represented in this entry.
- Variant of Costello syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. . Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O43353
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 1 - 159 | IPR005225 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| CARD domain binding | Binding to a CARD (N-terminal caspase recruitment) domain, a protein-protein interaction domain that belongs to the death domain-fold superfamily. These protein molecule families are similar in structure with each consisting of six or seven anti-parallel alpha-helices that form highly specific homophilic interactions between signaling partners. CARD exists in the N-terminal prodomains of several caspases and in apoptosis-regulatory proteins and mediates the assembly of CARD-containing proteins that participate in activation or suppression of CARD carrying members of the caspase family. |
| caspase binding | Binding to a caspase family protein. |
| identical protein binding | Binding to an identical protein or proteins. |
| JUN kinase kinase kinase activity | Catalysis of the reaction: JNKK + ATP = JNKK phosphate + ADP. This reaction is the phosphorylation and activation of JUN kinase kinases (JNKKs). |
| LIM domain binding | Binding to a LIM domain (for Lin-11 Isl-1 Mec-3) of a protein, a domain with seven conserved cysteine residues and a histidine, that binds two zinc ions and acts as an interface for protein-protein interactions. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| 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. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
55 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase. |
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| CD4-positive, alpha-beta T cell proliferation | The expansion of a CD4-positive, alpha-beta T cell population by cell division. |
| cellular response to lipoteichoic acid | 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 lipoteichoic acid stimulus; lipoteichoic acid is a major component of the cell wall of gram-positive bacteria and typically consists of a chain of glycerol-phosphate repeating units linked to a glycolipid anchor. |
| cellular response to muramyl dipeptide | 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 muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan. |
| cellular response to peptidoglycan | 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 peptidoglycan stimulus. Peptidoglycan is a bacterial cell wall macromolecule. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response to Gram-positive bacterium | Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism. |
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| immature T cell proliferation in thymus | The expansion of an immature T cell population by cell division in the thymus. |
| 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. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (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. |
| lipopolysaccharide-mediated signaling pathway | The series of molecular signals initiated by the binding of a lipopolysaccharide (LPS) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Lipopolysaccharides are major components of the outer membrane of Gram-negative bacteria, making them prime targets for recognition by the immune system. |
| nucleotide-binding oligomerization domain containing 1 signaling pathway | The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 1 (NOD1) protein receptor, and ending with regulation of a downstream cellular process. |
| nucleotide-binding oligomerization domain containing 2 signaling pathway | The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 2 (NOD2) protein receptor, and ending with regulation of a downstream cellular process. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of CD4-positive, alpha-beta T cell proliferation | Any process that activates or increases the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation. |
| positive regulation of cell death | Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
| positive regulation of chemokine production | Any process that activates or increases the frequency, rate, or extent of chemokine production. |
| positive regulation of cytokine-mediated signaling pathway | Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of immature T cell proliferation in thymus | Any process that activates or increases the frequency, rate or extent of immature T cell proliferation in the thymus. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interferon-gamma production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| positive regulation of interleukin-1 beta production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production. |
| positive regulation of interleukin-12 production | Any process that activates or increases the frequency, rate, or extent of interleukin-12 production. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| positive regulation of macrophage cytokine production | Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| positive regulation of peptidyl-threonine phosphorylation | Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of T-helper 1 cell differentiation | Any process that activates or increases the frequency, rate or extent of T-helper 1 cell differentiation. |
| positive regulation of T-helper 1 type immune response | Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. |
| 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. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| positive regulation of xenophagy | Any process that activates or increases the frequency, rate or extent of xenophagy. |
| response to exogenous dsRNA | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| response to interleukin-1 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. |
| response to interleukin-12 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-12 stimulus. |
| response to interleukin-18 | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-18 stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| toll-like receptor 2 signaling pathway | The series of molecular signals initiated by a ligand binding to toll-like receptor 2. |
| toll-like receptor 4 signaling pathway | The series of molecular signals initiated by a ligand binding to toll-like receptor 4. |
| xenophagy | The selective autophagy process in which a region of cytoplasm containing an intracellular pathogen or some part of an intracellular pathogen (e.g. viral capsid) is enclosed in a double membrane bound autophagosome, which then fuses with the lysosome leading to degradation of the contents. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2VDU3 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Bos taurus (Bovine) | SS |
| Q4TVR5 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Bos taurus (Bovine) | PR |
| Q3SZJ2 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Bos taurus (Bovine) | PR |
| Q6XUX0 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Gallus gallus (Chicken) | PR |
| P83104 | Takl1 | Putative mitogen-activated protein kinase kinase kinase 7-like | Drosophila melanogaster (Fruit fly) | PR |
| Q95UN8 | slpr | Mitogen-activated protein kinase kinase kinase | Drosophila melanogaster (Fruit fly) | EV |
| P00540 | MOS | Proto-oncogene serine/threonine-protein kinase mos | Homo sapiens (Human) | PR |
| Q5TCX8 | MAP3K21 | Mitogen-activated protein kinase kinase kinase 21 | Homo sapiens (Human) | PR |
| Q6XUX3 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Homo sapiens (Human) | PR |
| O43318 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Homo sapiens (Human) | SS |
| Q9NYL2 | MAP3K20 | Mitogen-activated protein kinase kinase kinase 20 | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
| P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
| Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
| Q13418 | ILK | Integrin-linked protein kinase | Homo sapiens (Human) | PR |
| P04049 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P10398 | ARAF | Serine/threonine-protein kinase A-Raf | Homo sapiens (Human) | PR |
| P15056 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens (Human) | EV |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| Q80XI6 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Mus musculus (Mouse) | PR |
| Q8VDG6 | Map3k21 | Mitogen-activated protein kinase kinase kinase 21 | Mus musculus (Mouse) | PR |
| Q62073 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Mus musculus (Mouse) | EV |
| Q3U1V8 | Map3k9 | Mitogen-activated protein kinase kinase kinase 9 | Mus musculus (Mouse) | SS |
| Q9D2Y4 | Mlkl | Mixed lineage kinase domain-like protein | Mus musculus (Mouse) | SS |
| Q9ESL4 | Map3k20 | Mitogen-activated protein kinase kinase kinase 20 | Mus musculus (Mouse) | PR |
| P00536 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Mus musculus (Mouse) | PR |
| Q66L42 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Mus musculus (Mouse) | SS |
| P58801 | Ripk2 | Receptor-interacting serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| P0C8E4 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Rattus norvegicus (Rat) | SS |
| Q66HA1 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Rattus norvegicus (Rat) | PR |
| D3ZG83 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Rattus norvegicus (Rat) | SS |
| P00539 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q67E00 | dstyk | Dual serine/threonine and tyrosine protein kinase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNGEAICSAL | PTIPYHKLAD | LRYLSRGASG | TVSSARHADW | RVQVAVKHLH | IHTPLLDSER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KDVLREAEIL | HKARFSYILP | ILGICNEPEF | LGIVTEYMPN | GSLNELLHRK | TEYPDVAWPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFRILHEIAL | GVNYLHNMTP | PLLHHDLKTQ | NILLDNEFHV | KIADFGLSKW | RMMSLSQSRS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SKSAPEGGTI | IYMPPENYEP | GQKSRASIKH | DIYSYAVITW | EVLSRKQPFE | DVTNPLQIMY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVSQGHRPVI | NEESLPYDIP | HRARMISLIE | SGWAQNPDER | PSFLKCLIEL | EPVLRTFEEI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TFLEAVIQLK | KTKLQSVSSA | IHLCDKKKME | LSLNIPVNHG | PQEESCGSSQ | LHENSGSPET |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRSLPAPQDN | DFLSRKAQDC | YFMKLHHCPG | NHSWDSTISG | SQRAAFCDHK | TTPCSSAIIN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PLSTAGNSER | LQPGIAQQWI | QSKREDIVNQ | MTEACLNQSL | DALLSRDLIM | KEDYELVSTK |
| 490 | 500 | 510 | 520 | 530 | |
| PTRTSKVRQL | LDTTDIQGEE | FAKVIVQKLK | DNKQMGLQPY | PEILVVSRSP | SLNLLQNKSM |