Q7Z698
PR
Gene name |
SPRED2 |
Protein name |
Sprouty-related, EVH1 domain-containing protein 2 |
Names |
Spred-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:200734 |
EC number |
|
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
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q7Z698
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2JP2 | NMR | - | A | 1-124 | PDB |
| 8EQ5 | X-ray | 180 A | B | 131-160 | PDB |
| AF-Q7Z698-F1 | Predicted | AlphaFoldDB |
389 variants for Q7Z698
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086929 | 63 | R>del | NS14; results in loss of MAPK down-regulation; increased protein degradation [UniProt] | Yes | UniProt |
| VAR_086930 | 100 | L>P | NS14; results in loss of MAPK down-regulation; increased protein degradation; properly targeted to the cell membrane; loss of interaction with NF1 [UniProt] | Yes | UniProt |
| rs1043526103 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1687782 rs748633096 |
2 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA347077860 rs1558697147 |
3 | E>D | No |
ClinGen Ensembl |
|
|
rs1385380477 CA347077866 |
3 | E>K | No |
ClinGen gnomAD |
|
|
rs780275431 CA1687778 |
4 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687779 rs750237615 |
4 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750080674 CA1687776 |
7 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368616637 CA1687774 |
8 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347077829 rs1481524751 |
8 | D>G | No |
ClinGen TOPMed |
|
|
rs542823775 CA1687775 |
8 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347077826 rs1166923137 |
9 | D>H | No |
ClinGen gnomAD |
|
|
CA347077825 rs1166923137 |
9 | D>Y | No |
ClinGen gnomAD |
|
|
CA1687713 rs778386684 |
12 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347010808 rs1572856659 |
13 | I>V | No |
ClinGen Ensembl |
|
|
CA1687711 COSM194297 rs749197715 |
15 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201473537 CA1687710 |
15 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347010778 rs749197715 |
15 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1211660624 CA347010762 |
16 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76336053 CA49340541 CA347010623 |
21 | M>I | No |
ClinGen gnomAD |
|
|
CA347010592 rs1226093734 |
23 | R>S | No |
ClinGen gnomAD |
|
|
CA1687706 rs764165302 |
26 | S>P | No |
ClinGen ExAC |
|
|
CA347010519 rs1325008840 |
27 | S>G | No |
ClinGen gnomAD |
|
|
CA1687703 rs765398690 CA1687702 |
28 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687701 rs760172422 |
29 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1401095588 CA347010471 |
29 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 29 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292205776 CA347010443 |
30 | W>L | No |
ClinGen gnomAD |
|
|
CA49340507 rs761421595 |
37 | G>R | No |
ClinGen Ensembl |
|
|
rs766786230 CA1687699 |
40 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687698 rs201064965 |
40 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750231971 CA1687695 |
41 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750231971 CA49340494 |
41 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750231971 CA1687696 |
41 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379401472 CA347010124 |
42 | G>R | No |
ClinGen gnomAD |
|
|
CA347010067 rs1572856488 |
43 | V>G | No |
ClinGen Ensembl |
|
|
CA1687692 rs375619259 |
44 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1687691 rs779809347 |
44 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687690 rs755951954 |
46 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1687689 rs745583719 |
47 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs1414347657 CA347009965 |
47 | M>T | No |
ClinGen gnomAD |
|
|
CA347009931 rs1572856448 |
48 | H>Q | No |
ClinGen Ensembl |
|
|
CA1687688 rs781036500 |
48 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758755344 CA1687687 |
49 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs113901009 CA347009906 |
50 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113901009 CA1687685 |
50 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49340433 rs760474492 |
52 | N>D | No |
ClinGen Ensembl |
|
|
rs760474492 CA49340434 |
52 | N>H | No |
ClinGen Ensembl |
|
|
CA1687684 rs755057303 |
52 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687683 rs754380485 |
54 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761236586 CA1687682 |
54 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs761236586 CA1687681 COSM3799123 |
54 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA347009783 rs1237901192 |
55 | S>N | No |
ClinGen TOPMed |
|
|
CA347009780 rs1237901192 |
55 | S>T | No |
ClinGen TOPMed |
|
|
rs761491800 CA1687678 |
56 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs767844690 CA1687679 |
56 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA347009737 rs1572856360 |
57 | F>L | No |
ClinGen Ensembl |
|
|
rs1484112921 CA347009691 |
59 | I>N | No |
ClinGen gnomAD |
|
|
rs775502965 CA1687674 |
60 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1687671 rs780902942 |
63 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1465584619 CA347009556 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1687669 rs748414850 |
64 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA49340354 rs1010238530 |
67 | K>N | No |
ClinGen TOPMed |
|
|
CA347009443 rs1389250324 |
67 | K>T | No |
ClinGen gnomAD |
|
|
CA1687668 rs779216346 |
68 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs369730684 CA347008015 |
69 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1687632 rs369730684 |
69 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347007983 rs1315444949 |
72 | E>* | No |
ClinGen TOPMed |
|
|
rs149672957 CA1687630 |
72 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1687629 rs556500338 |
74 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1687628 rs61756188 |
75 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434206180 CA347007940 |
76 | R>G | No |
ClinGen gnomAD |
|
|
rs751469062 CA49334382 |
77 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347007916 rs1335698616 |
78 | D>N | No |
ClinGen gnomAD |
|
|
CA1687625 rs745895241 |
82 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1687626 rs745895241 |
82 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 84 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044935947 CA49334381 |
86 | P>A | No |
ClinGen Ensembl |
|
|
CA347007462 rs781246078 |
87 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781246078 CA1687624 |
87 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453000254 CA347007452 |
89 | H>N | No |
ClinGen gnomAD |
|
|
rs1240858007 CA347007429 |
91 | W>C | No |
ClinGen gnomAD |
|
|
rs1449449341 CA347007435 |
91 | W>R | No |
ClinGen gnomAD |
|
|
rs1485422722 CA347007417 |
93 | V>F | No |
ClinGen TOPMed |
|
|
rs758753744 CA1687620 |
94 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs867183961 CA49334351 |
97 | K>N | No |
ClinGen Ensembl |
|
|
CA347007371 rs1208922932 |
99 | G>E | No |
ClinGen gnomAD |
|
|
rs1344058765 CA347007368 COSM1022301 |
100 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| rs754129301 | 101 | T>N | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389811222 CA347007361 |
101 | T>N | No |
ClinGen gnomAD |
|
|
rs1227390555 CA347007336 |
104 | S>R | No |
ClinGen gnomAD |
|
|
CA1687617 rs764888890 |
105 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187636814 CA347007315 |
108 | A>T | No |
ClinGen gnomAD |
|
|
rs753453111 CA1687614 |
109 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49334336 rs749039567 |
112 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1687611 rs760734416 |
117 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773242396 CA347007239 |
119 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169695497 CA347007244 |
119 | I>V | No |
ClinGen gnomAD |
|
|
CA49334315 rs200775419 |
120 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200775419 CA1687609 COSM1022299 |
120 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA49334312 rs139533024 |
121 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA49334309 rs139533024 |
121 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1687608 rs761608852 |
123 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236919002 CA347007213 |
124 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347007204 rs1185883853 |
125 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3743864 rs1185883853 CA347007205 |
125 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs776257274 CA49395842 |
129 | S>* | No |
ClinGen Ensembl |
|
|
rs1305578993 CA347020860 |
130 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 132 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1687581 rs771025788 |
132 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1361166793 CA347020842 |
133 | I>T | No |
ClinGen gnomAD |
|
|
CA347020819 rs1176993565 |
136 | E>A | No |
ClinGen gnomAD |
|
|
CA1687579 rs773600686 |
141 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA49395831 rs866061295 |
144 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs866061295 CA49395832 |
144 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347020754 rs1202906179 |
146 | T>P | No |
ClinGen gnomAD |
|
|
rs996892971 CA49383543 |
147 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766525483 CA1687560 |
149 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs532190543 CA1687559 |
150 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA49383501 rs548444588 |
151 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548444588 CA1687558 |
151 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762409595 CA1687556 |
151 | S>N | No |
ClinGen ExAC |
|
|
CA1687557 rs548444588 |
151 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs963760578 CA49383489 |
154 | N>T | No |
ClinGen TOPMed |
|
|
CA49383483 rs369371372 |
155 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369371372 CA1687554 |
155 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174314504 CA347019789 |
155 | S>T | No |
ClinGen gnomAD |
|
|
CA347019769 rs1353857821 |
157 | Q>* | Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 157 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754539336 CA1687553 |
159 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687552 rs201899929 |
160 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347019722 rs201899929 |
160 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347019705 rs1483807666 |
161 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769629519 CA49383438 |
162 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs769629519 CA1687550 |
162 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1441117613 CA347019673 |
163 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 163 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347019681 rs1459430102 |
163 | T>S | No |
ClinGen gnomAD |
|
|
rs756682424 CA1687548 |
164 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs756682424 CA1687547 |
164 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1687549 rs745488120 |
164 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687546 rs141237945 |
165 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1687545 rs372108494 |
166 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368823642 CA1687543 |
167 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758197090 CA1687544 |
167 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1687542 rs764992408 |
169 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764992408 CA347019611 |
169 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1232779364 CA347019597 |
170 | T>I | No |
ClinGen gnomAD |
|
|
rs1224715374 CA347019587 |
172 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347019582 rs1332718350 |
173 | E>K | No |
ClinGen gnomAD |
|
|
CA347019574 rs1290452834 |
174 | H>N | No |
ClinGen gnomAD |
|
|
rs750567443 CA1687539 |
174 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs201381865 CA1687538 |
175 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA49383315 rs200668537 |
175 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA347019562 rs1391425087 |
176 | R>K | No |
ClinGen gnomAD |
|
|
rs915914592 CA49383293 |
176 | R>S | No |
ClinGen Ensembl |
|
|
rs1254142879 CA347019558 |
177 | I>L | No |
ClinGen TOPMed |
|
|
rs1325083140 CA347019545 |
178 | Y>F | No |
ClinGen gnomAD |
|
|
CA49383284 rs144093476 |
179 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347019542 rs1572830112 |
179 | T>P | No |
ClinGen Ensembl |
|
|
rs755031639 CA49383279 |
181 | G>D | No |
ClinGen TOPMed |
|
|
rs1374251131 CA347019532 |
181 | G>S | No |
ClinGen gnomAD |
|
|
CA49383274 rs1057461677 |
183 | L>P | No |
ClinGen Ensembl |
|
|
CA1687535 rs543797257 |
184 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1687536 rs774924062 |
184 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776047726 CA1687533 |
185 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453640534 CA347019496 |
186 | S>L | No |
ClinGen gnomAD |
|
|
rs142883095 CA1687531 |
187 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1687532 rs770252796 |
187 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1687530 rs776102186 |
188 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA347019481 rs746439810 |
189 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs746439810 CA1687528 |
189 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA347019474 rs1235170393 |
190 | D>E | No |
ClinGen gnomAD |
|
|
CA1687527 rs777264148 |
190 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687526 rs575345359 |
190 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1338595320 CA347019467 |
191 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1331431035 CA347019470 |
191 | H>R | No |
ClinGen gnomAD |
|
|
CA1687525 rs748043898 |
193 | H>Y | No |
ClinGen ExAC |
|
|
rs867407217 CA49383182 |
194 | L>F | No |
ClinGen Ensembl |
|
|
CA1687522 rs750670409 |
195 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687523 rs750670409 |
195 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390744086 CA347019434 |
196 | Q>H | No |
ClinGen gnomAD |
|
|
rs766058542 CA49383132 |
196 | Q>K | No |
ClinGen Ensembl |
|
|
rs1475127352 CA347019412 |
197 | P>L | No |
ClinGen gnomAD |
|
|
rs901352433 CA49380779 |
197 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1687499 rs778032823 |
199 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs150461103 CA1687500 |
199 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150461103 CA347019402 |
199 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758504987 CA1687498 |
200 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888440724 CA49380749 |
201 | P>L | No |
ClinGen Ensembl |
|
|
rs753273719 CA1687497 |
202 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1687496 rs765599113 |
203 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1687495 rs760088074 |
203 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347019372 rs766731154 |
204 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs766731154 CA1687493 |
204 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs760272840 CA1687492 |
205 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772801002 CA347019349 |
207 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687490 rs771581739 |
208 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1372723885 CA347019341 |
209 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1687488 rs369324471 |
209 | D>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1372723885 CA347019339 |
209 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1171746264 COSM3391816 CA347019335 |
210 | D>N | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347019314 rs1165125142 |
212 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1687484 rs769591306 |
215 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 216 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185998583 CA347019289 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747259650 CA1687483 |
217 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA347019264 rs1558645443 |
220 | R>Q | No |
ClinGen Ensembl |
|
|
CA1687479 rs752893751 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA347019240 rs779041896 |
223 | I>M | No |
ClinGen ExAC |
|
|
rs755490189 CA1687477 |
225 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687476 rs754327382 COSM1409007 |
226 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1431788520 CA347019181 |
231 | Y>* | No |
ClinGen TOPMed |
|
|
CA1687472 rs767222609 |
233 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1353292405 CA347019167 |
234 | A>T | No |
ClinGen gnomAD |
|
|
CA1687467 rs762829669 |
236 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762829669 CA1687468 |
236 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1687466 rs775451640 |
237 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1687465 rs769491414 |
238 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49380488 rs973506263 |
239 | K>R | No |
ClinGen TOPMed |
|
|
CA347019131 rs1412145183 |
240 | Y>H | No |
ClinGen TOPMed |
|
|
CA347019128 rs1572827401 |
240 | Y>S | No |
ClinGen Ensembl |
|
|
rs1473735207 CA347019119 |
241 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs183246092 CA1687463 |
243 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183246092 CA49380451 |
243 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347019108 rs1408943826 COSM1730839 |
243 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 244 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1687461 rs772485288 |
247 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1687458 rs778887970 |
253 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749770464 CA1687457 COSM1236320 |
254 | F>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1687455 rs370950228 |
255 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756607698 CA1687454 |
256 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306289969 CA347018972 COSM1227428 |
258 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs537113516 CA1687453 |
260 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347018916 rs1197335802 |
262 | H>R | No |
ClinGen TOPMed |
|
|
rs890723828 CA49380333 |
263 | D>Y | No |
ClinGen TOPMed |
|
|
rs142711233 CA1687451 |
264 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346033063 CA347018853 |
266 | Y>* | No |
ClinGen gnomAD |
|
|
CA347018845 rs1158603838 |
267 | P>R | No |
ClinGen gnomAD |
|
|
rs762468952 CA347018828 |
268 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1687449 rs763535631 |
268 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198356279 CA347018819 |
269 | V>A | No |
ClinGen TOPMed |
|
|
rs146072471 CA1687446 |
269 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1687447 rs146072471 |
269 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1687444 rs776621383 |
270 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138385981 CA1687445 |
270 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347018795 rs1167074972 |
271 | S>C | No |
ClinGen TOPMed |
|
|
CA1687443 rs770822900 |
275 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687442 rs150496700 |
276 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1687441 rs148120209 |
277 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283001402 CA347018715 |
278 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs749448972 CA1687439 |
279 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749448972 CA347018701 |
279 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA49380222 rs185022418 |
280 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1687438 rs185022418 |
280 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1687435 rs144709078 |
283 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1687436 rs555449116 |
283 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574194772 CA49380189 |
284 | G>R | No |
ClinGen gnomAD |
|
|
CA49380185 rs975811469 |
285 | G>D | No |
ClinGen Ensembl |
|
|
CA347018614 rs751186486 |
286 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687432 rs763737477 |
287 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49380154 rs965508368 |
287 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs949717180 CA49380136 |
288 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347018574 rs757985701 |
290 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757985701 CA1687431 |
290 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347018576 rs1172364621 |
290 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347018566 rs1184256147 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
CA347018545 rs1257749483 |
292 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1484055076 CA347018553 |
292 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347018525 rs1212067010 |
294 | R>L | No |
ClinGen gnomAD |
|
|
COSM1266683 rs138517414 CA1687428 |
295 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1445778829 CA347018518 |
295 | G>R | No |
ClinGen TOPMed |
|
|
rs138517414 CA347018512 |
295 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347018487 COSM263852 rs1308584438 |
297 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347018479 rs375121510 |
298 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1687423 COSM1532362 rs375121510 |
298 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs140044019 CA1687424 |
298 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1687421 rs775586347 |
299 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347018473 COSM194288 rs1413947924 |
299 | R>W | large_intestine endometrium stomach Variant assessed as Somatic; 5.234e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1687420 rs535407905 |
300 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347018465 COSM1022290 rs1299658940 |
300 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1687418 rs142134790 |
302 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347018443 rs1436781883 |
302 | E>K | No |
ClinGen TOPMed |
|
|
rs777990292 CA1687415 |
303 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549864952 CA1687416 |
303 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549864952 CA1687417 |
303 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752264739 CA1687413 |
304 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347018413 rs752264739 |
304 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758121276 CA1687414 CA347018417 |
304 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687412 rs532860603 |
306 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532860603 CA49379997 |
306 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1687411 rs374337368 |
307 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1687410 rs374337368 |
307 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760514097 CA1687408 |
308 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1687409 rs371327594 |
308 | R>W | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA347018363 rs1572826918 |
309 | C>G | No |
ClinGen Ensembl |
|
|
CA1687406 rs767183465 |
310 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs775641378 CA1687404 |
311 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199737796 CA1687401 |
315 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199737796 CA1687402 |
315 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936514564 CA347018279 |
317 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA49379939 rs936514564 |
317 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1458503245 CA347018276 |
318 | H>N | No |
ClinGen TOPMed |
|
|
CA347018271 rs1462562322 |
318 | H>R | No |
ClinGen gnomAD |
|
|
CA1687399 rs747453277 |
319 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778244716 CA1687398 |
322 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs772289515 CA1687397 |
322 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49379866 rs200147258 |
323 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200147258 CA347018237 |
323 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1420008408 CA347018235 |
324 | G>S | No |
ClinGen gnomAD |
|
|
CA347018207 rs1250440849 |
327 | Q>H | No |
ClinGen gnomAD |
|
|
rs1376924004 CA347018209 |
327 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 331 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273966246 CA347018180 |
331 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA49379823 rs949827587 |
333 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM3673719 rs753455015 CA1687393 |
333 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779687734 CA1687392 |
335 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1687391 rs756115964 |
336 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347018136 rs1304797908 |
338 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1690619 CA347018134 rs1371631053 |
339 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA49379807 rs975800108 CA347018129 |
340 | V>L | No |
ClinGen gnomAD |
|
|
rs767366788 CA1687389 |
341 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1558644876 CA347018113 |
342 | C>F | No |
ClinGen Ensembl |
|
|
CA347018116 rs1158720336 |
342 | C>R | No |
ClinGen gnomAD |
|
|
CA347018110 rs1269855441 |
343 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752921726 CA1687387 |
344 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1687388 rs761457961 |
344 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA347018073 rs1558644850 |
347 | D>E | No |
ClinGen Ensembl |
|
|
CA49379750 rs982949700 |
350 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 351 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347018002 rs1177972605 |
357 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1687379 rs773547593 |
361 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs748586468 CA347017957 |
363 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687378 rs772485837 |
363 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs144205418 CA1687376 |
365 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347017938 rs1408128103 |
366 | S>W | No |
ClinGen TOPMed |
|
|
CA347017930 rs559619429 |
367 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272168603 CA347017936 |
367 | C>G | No |
ClinGen gnomAD |
|
|
CA347017929 rs559619429 |
367 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1687373 rs147302571 |
368 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs529301774 CA1687372 |
369 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347017917 rs1157283830 |
369 | T>I | No |
ClinGen gnomAD |
|
|
rs1436921677 CA347017915 |
370 | S>G | No |
ClinGen gnomAD |
|
|
rs1173484131 CA347017885 |
373 | K>N | No |
ClinGen gnomAD |
|
|
CA347017873 rs1477087340 |
375 | C>Y | No |
ClinGen gnomAD |
|
|
rs780925605 CA1687370 |
377 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780925605 CA347017860 |
377 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754771801 CA49379640 |
381 | L>F | No |
ClinGen Ensembl |
|
|
rs1002904948 CA49379639 |
382 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1687368 rs751416202 |
388 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1687366 rs755236208 |
390 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347017671 rs1202445817 |
393 | C>S | No |
ClinGen TOPMed |
|
|
rs267599422 CA49379598 |
394 | Y>C | No |
ClinGen Ensembl |
|
|
rs267599422 CA347017652 |
394 | Y>S | No |
ClinGen Ensembl |
|
|
rs754022701 CA1687365 |
395 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192622636 CA347017613 |
396 | P>L | No |
ClinGen TOPMed |
|
|
CA347017615 rs1192622636 |
396 | P>R | No |
ClinGen TOPMed |
|
|
CA347017628 rs1303353273 |
396 | P>T | No |
ClinGen gnomAD |
|
|
CA347017607 rs1558644714 |
397 | L>F | No |
ClinGen Ensembl |
|
|
CA347017601 rs1341384473 |
397 | L>P | No |
ClinGen gnomAD |
|
|
rs138542483 CA1687364 |
398 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA49379543 rs868413766 |
398 | R>W | No |
ClinGen gnomAD |
|
|
rs1314294223 CA347017576 |
400 | C>R | No |
ClinGen gnomAD |
|
|
CA347017513 rs1432421434 |
402 | H>Q | No |
ClinGen TOPMed |
|
|
rs374710787 COSM1409003 CA1687361 |
404 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA347017452 rs1413329941 |
406 | M>T | No |
ClinGen gnomAD |
|
|
CA347017428 rs1422230015 |
407 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA347017417 rs1368348020 |
408 | R>K | No |
ClinGen gnomAD |
|
|
CA1687359 rs79380533 |
413 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1190258233 CA347017298 |
415 | K>R | No |
ClinGen gnomAD |
|
|
CA1687357 rs572272035 |
416 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572272035 CA49379423 |
416 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1687356 rs149004281 |
417 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149004281 CA1687355 |
417 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3380192 CA347017228 rs1439543638 |
418 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347017223 rs1572826258 |
419 | A>G | No |
ClinGen Ensembl |
1 associated diseases with Q7Z698
[MIM: 619745]: Noonan syndrome 14 (NS14)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. NS14 inheritance is autosomal recessive. {ECO:0000269|PubMed:34626534}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. NS14 inheritance is autosomal recessive. {ECO:0000269|PubMed:34626534}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| transport vesicle membrane | The lipid bilayer surrounding a transport vesicle. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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/threonine kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase. |
| stem cell factor receptor binding | Binding to a stem cell factor receptor (SCFR), a type III transmembrane kinase receptor. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of epithelial to mesenchymal transition | Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of lens fiber cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of lens fiber cell differentiation. |
| negative regulation of MAPK cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade. |
| negative regulation of peptidyl-threonine phosphorylation | Any process that decreases 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. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | Any process that activates, maintains or increases the rate of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| regulation of protein deacetylation | Any process that modulates the rate, frequency, or extent of protein deacetylation, the removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P50552 | VASP | Vasodilator-stimulated phosphoprotein | Homo sapiens (Human) | PR |
| Q924S7 | Spred2 | Sprouty-related, EVH1 domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q3C2P8 | Spred2 | Sprouty-related, EVH1 domain-containing protein 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTEETHPDDD | SYIVRVKAVV | MTRDDSSGGW | FPQEGGGISR | VGVCKVMHPE | GNGRSGFLIH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GERQKDKLVV | LECYVRKDLV | YTKANPTFHH | WKVDNRKFGL | TFQSPADARA | FDRGVRKAIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLIEGSTTSS | STIHNEAELG | DDDVFTTATD | SSSNSSQKRE | QPTRTISSPT | SCEHRRIYTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GHLHDSYPTD | HYHLDQPMPR | PYRQVSFPDD | DEEIVRINPR | EKIWMTGYED | YRHAPVRGKY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PDPSEDADSS | YVRFAKGEVP | KHDYNYPYVD | SSDFGLGEDP | KGRGGSVIKT | QPSRGKSRRR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KEDGERSRCV | YCRDMFNHEE | NRRGHCQDAP | DSVRTCIRRV | SCMWCADSML | YHCMSDPEGD |
| 370 | 380 | 390 | 400 | 410 | |
| YTDPCSCDTS | DEKFCLRWMA | LIALSFLAPC | MCCYLPLRAC | YHCGVMCRCC | GGKHKAAA |