P10588
PR
Gene name |
NR2F6 (EAR2, ERBAL2) |
Protein name |
Nuclear receptor subfamily 2 group F member 6 |
Names |
V-erbA-related protein 2, EAR-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2063 |
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
1 structures for P10588
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P10588-F1 | Predicted | AlphaFoldDB |
322 variants for P10588
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404695760 rs1402408164 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA404695734 rs1599458883 |
3 | M>T | No |
ClinGen Ensembl |
|
|
rs1256154261 CA404695741 |
3 | M>V | No |
ClinGen TOPMed |
|
|
rs1443470470 CA404695648 |
5 | T>I | No |
ClinGen TOPMed |
|
|
CA404695644 rs1376293768 |
6 | G>C | No |
ClinGen gnomAD |
|
|
rs1161070995 CA404695615 |
7 | G>S | No |
ClinGen TOPMed |
|
|
rs1283277018 CA404695588 |
8 | W>R | No |
ClinGen gnomAD |
|
|
rs775524841 CA404695537 |
9 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775524841 CA9289840 |
9 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404695528 rs1366448172 |
10 | G>C | No |
ClinGen gnomAD |
|
|
CA404695417 rs1411687671 |
14 | D>N | No |
ClinGen gnomAD |
|
|
rs1043674155 CA306054518 |
15 | T>P | No |
ClinGen TOPMed |
|
|
rs1037930033 CA306054511 |
16 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769815988 CA9289839 |
18 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769815988 CA306054503 |
18 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289838 rs760065076 |
19 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404695015 rs1223633241 |
25 | P>L | No |
ClinGen gnomAD |
|
|
rs907848836 CA306054495 |
25 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA306054497 rs907848836 |
25 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404695008 rs1319453829 |
26 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404695004 rs1288513527 |
26 | R>P | No |
ClinGen gnomAD |
|
|
rs1255788528 CA404694944 |
28 | A>V | No |
ClinGen TOPMed |
|
|
rs771214764 CA404694881 |
30 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs12974913 CA306054472 |
30 | D>H | No |
ClinGen Ensembl |
|
|
CA9289833 rs771728106 |
35 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306054452 rs771728106 |
35 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404694476 rs1163009836 |
38 | A>G | No |
ClinGen gnomAD |
|
|
rs1405424007 CA404694489 |
38 | A>S | No |
ClinGen TOPMed |
|
|
CA9289832 rs747713251 |
39 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778590836 CA9289831 |
39 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255650371 CA404694256 |
42 | A>D | No |
ClinGen gnomAD |
|
|
CA306054436 rs930949194 |
44 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404694188 rs930949194 |
44 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753836937 CA9289829 |
45 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289828 rs780025609 |
45 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289827 rs755925713 |
46 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272082828 CA404693971 |
48 | E>D | No |
ClinGen gnomAD |
|
|
CA9289826 rs373781899 |
49 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404693921 rs1277993163 |
50 | P>L | No |
ClinGen TOPMed |
|
|
rs202073582 CA9289825 |
50 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404693871 rs1599458752 |
52 | L>R | No |
ClinGen Ensembl |
|
|
rs1221225701 CA404693864 |
53 | Q>* | No |
ClinGen gnomAD |
|
|
rs1224551103 CA404693853 |
53 | Q>L | No |
ClinGen TOPMed |
|
|
rs763258279 CA9289824 |
54 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968557523 CA306054418 |
57 | V>M | No |
ClinGen Ensembl |
|
|
CA9289822 CA9289821 rs759556056 |
60 | G>R | No |
ClinGen ExAC |
|
|
CA306054400 rs969232866 |
62 | K>E | No |
ClinGen TOPMed |
|
|
CA306054398 rs866387326 |
62 | K>R | No |
ClinGen TOPMed |
|
|
rs1378058923 CA404693552 |
63 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867421231 CA306054394 |
63 | S>P | No |
ClinGen Ensembl |
|
|
CA306054392 rs866938562 |
69 | G>C | No |
ClinGen Ensembl |
|
|
CA404693320 rs1182768000 |
72 | T>I | No |
ClinGen gnomAD |
|
|
rs1248964289 CA404693229 |
77 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12974411 CA306054376 |
83 | S>N | No |
ClinGen ExAC |
|
|
rs1257332758 CA404693090 |
83 | S>R | No |
ClinGen gnomAD |
|
|
CA9289818 rs12974411 |
83 | S>T | No |
ClinGen ExAC |
|
|
rs1599458671 CA404692973 |
86 | R>S | No |
ClinGen Ensembl |
|
|
rs772277619 CA9289816 |
88 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404692913 rs1283251156 |
88 | L>V | No |
ClinGen gnomAD |
|
|
CA404692893 rs1568318926 |
89 | S>G | No |
ClinGen Ensembl |
|
|
rs12974387 CA306054335 |
89 | S>N | No |
ClinGen Ensembl |
|
|
rs778645883 CA9289814 |
90 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9289813 rs768335638 |
90 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA404692837 rs201360163 |
91 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404692824 rs1599458636 |
91 | T>I | No |
ClinGen Ensembl |
|
|
CA9289812 rs201360163 |
91 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404690531 rs1317314233 |
94 | S>A | No |
ClinGen gnomAD |
|
|
CA9289788 rs757103571 |
94 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM992726 rs200476767 CA9289787 |
96 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA404690472 rs1428284923 |
96 | R>H | No |
ClinGen TOPMed |
|
|
CA9289786 rs779148030 |
97 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404690327 rs1169978487 |
100 | I>L | No |
ClinGen gnomAD |
|
|
rs755172489 CA9289785 |
101 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9289784 rs201484634 |
102 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1312731698 CA404690135 |
104 | H>D | No |
ClinGen TOPMed |
|
|
CA404690117 rs1203844080 |
105 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404689976 rs1459235221 |
108 | C>Y | No |
ClinGen TOPMed |
|
|
rs756084499 CA9289782 |
109 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA404689809 rs1230733727 |
111 | C>R | No |
ClinGen gnomAD |
|
|
rs1337303829 CA404689797 |
111 | C>W | No |
ClinGen gnomAD |
|
|
rs1269525360 CA404689773 |
112 | R>H | No |
ClinGen gnomAD |
|
|
rs1599456485 CA404689763 |
113 | L>I | No |
ClinGen Ensembl |
|
|
rs1233964531 CA404689715 |
113 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774831125 CA9289778 |
117 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA306047568 rs969235743 |
118 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs969235743 CA404689535 |
118 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs146541423 CA9289777 |
118 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397578742 CA404689503 |
120 | G>S | No |
ClinGen TOPMed |
|
|
CA404689447 rs1407725301 |
121 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451579390 CA404687298 |
128 | R>G | No |
ClinGen gnomAD |
|
|
CA404687291 rs1408972806 |
128 | R>H | No |
ClinGen gnomAD |
|
|
rs1030004933 CA404687243 |
131 | I>F | No |
ClinGen TOPMed |
|
|
rs1030004933 CA306043350 |
131 | I>V | No |
ClinGen TOPMed |
|
|
rs202200760 CA9289757 |
132 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9289756 rs764556511 |
132 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306043337 rs866663899 |
133 | H>P | No |
ClinGen TOPMed |
|
|
rs866663899 CA404687182 |
133 | H>R | No |
ClinGen TOPMed |
|
|
CA404687141 rs1232341480 |
134 | S>L | No |
ClinGen gnomAD |
|
|
CA404687076 rs1183859451 |
137 | G>A | No |
ClinGen TOPMed |
|
|
rs1202720779 CA404687057 |
138 | A>S | No |
ClinGen gnomAD |
|
|
CA404687001 rs1221689971 |
141 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1599453936 CA404686989 |
141 | A>V | No |
ClinGen Ensembl |
|
|
CA404686970 rs1284228286 |
142 | S>A | No |
ClinGen gnomAD |
|
|
rs1449607006 CA404686961 |
142 | S>F | No |
ClinGen gnomAD |
|
|
CA306043295 rs1014830725 |
143 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404686925 rs1006116746 |
144 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA306043291 rs1006116746 |
144 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404686871 rs931457611 |
145 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA306043277 rs1055643169 |
146 | P>S | No |
ClinGen TOPMed |
|
|
rs1161783594 CA404686818 |
147 | P>L | No |
ClinGen gnomAD |
|
|
rs1399134499 CA404686800 |
148 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA306043261 rs1001739549 |
149 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs973007907 CA306043255 |
152 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs940052447 CA306043253 |
152 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404686656 rs1249626138 |
153 | A>V | No |
ClinGen gnomAD |
|
|
rs949398590 CA306043222 |
155 | A>S | No |
ClinGen TOPMed |
|
|
rs1213414893 CA404686579 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA404686469 CA404686465 rs1229744998 |
158 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191686184 CA404686440 |
159 | D>A | No |
ClinGen TOPMed |
|
|
CA404686395 rs1356625232 |
159 | D>E | No |
ClinGen gnomAD |
|
|
CA404686371 rs1599453856 |
160 | L>P | No |
ClinGen Ensembl |
|
|
rs986738945 CA306043214 |
161 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA306043207 rs954138745 |
162 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs979257478 CA306043167 |
163 | G>V | No |
ClinGen Ensembl |
|
|
CA404686040 rs1324446899 |
169 | L>R | No |
ClinGen gnomAD |
|
|
rs1245446927 CA404685907 |
172 | Q>H | No |
ClinGen gnomAD |
|
|
CA404685849 rs1383431528 |
175 | R>C | No |
ClinGen gnomAD |
|
|
CA404685842 rs1306309000 |
175 | R>H | No |
ClinGen TOPMed |
|
|
CA404685791 rs1372496440 |
176 | A>G | No |
ClinGen TOPMed |
|
|
rs1184609840 CA404685804 |
176 | A>T | No |
ClinGen gnomAD |
|
|
CA404685735 rs1163044697 |
178 | P>L | No |
ClinGen gnomAD |
|
|
CA306043157 rs1021323979 |
180 | P>A | No |
ClinGen Ensembl |
|
|
rs1421587026 CA404685664 |
180 | P>R | No |
ClinGen gnomAD |
|
|
CA306043130 rs1009494142 |
181 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs866558013 CA306043138 |
181 | A>S | No |
ClinGen Ensembl |
|
|
CA306043127 rs1009494142 |
181 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1251620409 CA404685616 |
182 | A>T | No |
ClinGen TOPMed |
|
|
rs986325442 CA306043109 |
184 | G>E | No |
ClinGen TOPMed |
|
|
rs986325442 CA404685523 |
184 | G>V | No |
ClinGen TOPMed |
|
|
rs1224226450 CA404685508 |
185 | R>C | No |
ClinGen gnomAD |
|
|
rs80306728 CA306043106 |
185 | R>H | No |
ClinGen gnomAD |
|
|
CA404685456 rs1430456138 |
187 | G>D | No |
ClinGen TOPMed |
|
|
rs953509949 CA306043105 |
187 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1328487031 CA404685389 |
191 | G>D | No |
ClinGen TOPMed |
|
|
rs1460242148 CA404685396 |
191 | G>S | No |
ClinGen TOPMed |
|
|
CA404685364 rs1343423481 |
192 | A>V | No |
ClinGen gnomAD |
|
|
rs776099114 CA9289750 |
193 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599453772 CA404685335 |
194 | G>D | No |
ClinGen Ensembl |
|
|
CA404685288 rs1359275827 |
196 | V>A | No |
ClinGen TOPMed |
|
|
rs770380149 CA9289749 |
196 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275857402 CA404685228 |
199 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404685234 rs1275857402 |
199 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs975798313 CA306043067 |
200 | D>H | No |
ClinGen TOPMed |
|
|
CA9289748 rs760641210 |
202 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208035542 CA404684937 |
211 | F>C | No |
ClinGen TOPMed |
|
|
CA306043011 rs866074729 |
212 | S>G | No |
ClinGen Ensembl |
|
|
rs1240380353 CA404684877 |
213 | T>I | No |
ClinGen TOPMed |
|
|
CA306042983 rs868594906 |
214 | V>A | No |
ClinGen Ensembl |
|
|
rs984833825 CA306042971 |
215 | E>D | No |
ClinGen TOPMed |
|
|
CA404684839 rs1427898426 |
215 | E>G | No |
ClinGen gnomAD |
|
|
CA404684788 rs1425569794 |
217 | A>V | No |
ClinGen gnomAD |
|
|
CA404684780 rs1201355356 |
218 | R>C | No |
ClinGen gnomAD |
|
|
CA404684777 rs1255796846 |
218 | R>H | No |
ClinGen TOPMed |
|
|
rs1167632340 CA404684746 |
219 | H>Q | No |
ClinGen TOPMed |
|
|
CA404684716 rs1330815599 |
220 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404684712 rs1330815599 |
220 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404684702 rs1479224279 |
221 | P>S | No |
ClinGen gnomAD |
|
|
rs898657339 CA306042952 |
223 | F>L | No |
ClinGen Ensembl |
|
|
rs1037574831 CA306042935 |
225 | E>Q | No |
ClinGen Ensembl |
|
|
rs866369135 CA306042903 |
229 | A>S | No |
ClinGen Ensembl |
|
|
CA306042900 rs867336295 |
230 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 230 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203004589 CA404684504 |
231 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA306042890 rs866937264 |
232 | V>M | No |
ClinGen Ensembl |
|
|
CA306042873 rs1001414451 |
233 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 234 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404684449 rs1307462027 |
234 | L>V | No |
ClinGen gnomAD |
|
|
rs1225755010 CA404684421 |
236 | R>C | No |
ClinGen gnomAD |
|
|
CA306042865 rs1057060 |
237 | L>M | No |
ClinGen Ensembl |
|
|
rs771872124 CA9289746 |
238 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1375597107 CA404684303 |
241 | E>K | No |
ClinGen gnomAD |
|
|
CA404684279 rs1296565994 |
242 | L>F | No |
ClinGen gnomAD |
|
|
CA404684281 rs1296565994 |
242 | L>V | No |
ClinGen gnomAD |
|
|
rs986789842 CA306042855 |
244 | V>L | No |
ClinGen gnomAD |
|
|
CA404684229 rs986789842 |
244 | V>M | No |
ClinGen gnomAD |
|
|
rs1468040326 CA404684158 |
247 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1428417145 CA404684106 |
250 | A>T | No |
ClinGen gnomAD |
|
|
CA404684095 rs1182432221 |
250 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568316529 CA404684027 |
253 | P>H | No |
ClinGen Ensembl |
|
|
CA404684012 rs1279872200 |
254 | L>V | No |
ClinGen TOPMed |
|
|
CA404683976 rs1423579072 |
255 | H>Q | No |
ClinGen gnomAD |
|
|
rs769880924 CA9289743 |
255 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1480561703 CA404683972 |
256 | T>A | No |
ClinGen gnomAD |
|
|
CA404683926 rs1244300442 |
256 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1599453602 CA404683809 |
261 | A>T | No |
ClinGen Ensembl |
|
|
CA306042816 rs892530940 |
261 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA306042810 rs1052459895 |
262 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746051796 CA9289742 |
262 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450429792 CA404683732 |
265 | L>F | No |
ClinGen gnomAD |
|
|
CA404683687 rs1380351852 |
267 | A>T | No |
ClinGen gnomAD |
|
|
rs1159678089 CA404683679 |
267 | A>V | No |
ClinGen gnomAD |
|
|
rs968503334 CA306042790 |
269 | P>L | No |
ClinGen Ensembl |
|
|
CA306042773 rs932187812 |
270 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9289738 rs535631177 |
271 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404683600 rs1185945106 |
271 | A>V | No |
ClinGen gnomAD |
|
|
rs752973936 CA9289735 |
273 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289737 rs758864042 |
273 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404683556 rs1238687106 |
274 | R>C | No |
ClinGen gnomAD |
|
|
rs866379809 CA306042765 |
274 | R>L | No |
ClinGen Ensembl |
|
|
CA404683545 rs1360236271 |
275 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1360236271 CA404683547 |
275 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1243637297 CA404683527 |
276 | V>L | No |
ClinGen gnomAD |
|
|
rs1354389927 CA404683507 |
278 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404683486 rs1381979453 |
279 | M>V | No |
ClinGen gnomAD |
|
|
CA9289732 rs753449813 |
280 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA306042734 rs960671155 |
281 | Q>R | No |
ClinGen Ensembl |
|
|
rs765880765 CA9289731 |
282 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306042722 rs773194784 |
284 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9289729 rs773194784 |
284 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306042720 rs1027440920 |
284 | A>V | No |
ClinGen Ensembl |
|
|
rs1458140494 CA404683357 |
286 | Q>R | No |
ClinGen gnomAD |
|
|
CA9289728 rs771868867 |
287 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191137589 CA404683317 |
288 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9289727 rs761712944 |
290 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761712944 CA404683298 |
290 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA306042695 rs994605622 |
294 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404683224 rs1452074091 |
294 | R>L | No |
ClinGen TOPMed |
|
|
CA306042693 rs951799747 |
299 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs774035729 CA9289726 |
299 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490585136 CA404683137 |
300 | A>S | No |
ClinGen gnomAD |
|
|
CA404683101 rs1358563233 |
302 | Y>N | No |
ClinGen gnomAD |
|
|
rs1229602227 CA404683088 |
303 | G>S | No |
ClinGen gnomAD |
|
|
CA404683060 rs1294633504 |
304 | C>F | No |
ClinGen gnomAD |
|
|
rs1405135859 CA404683024 |
306 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300682679 CA404682999 |
309 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 310 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404682982 rs1370706715 |
311 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1168982486 CA404682977 |
312 | T>K | No |
ClinGen gnomAD |
|
|
rs1168982486 CA404682975 |
312 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1204300308 | 314 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9289708 rs761684813 |
315 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA306039745 rs894872591 |
317 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 317 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574096107 CA306039739 |
321 | P>L | No |
ClinGen Ensembl |
|
|
CA9289707 rs774276278 |
321 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404680324 rs369688906 |
323 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777058958 CA9289704 |
326 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs777058958 CA404680237 |
326 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1439406384 CA404680199 |
328 | Q>K | No |
ClinGen gnomAD |
|
|
CA9289703 rs771246371 |
330 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1568315674 CA404680151 |
330 | K>Q | No |
ClinGen Ensembl |
|
|
CA404680133 rs1169233801 |
331 | A>T | No |
ClinGen TOPMed |
|
|
rs144215772 CA9289702 |
331 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404680063 rs1599451874 |
333 | V>G | No |
ClinGen Ensembl |
|
|
CA404680051 rs1408723803 |
334 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 335 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414074101 CA404680028 |
335 | L>R | No |
ClinGen gnomAD |
|
|
CA9289698 rs779420237 |
336 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA306039647 rs779420237 |
336 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1379823276 CA404679983 |
337 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs755359395 CA9289697 |
337 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008232684 CA306039622 |
338 | Y>H | No |
ClinGen Ensembl |
|
|
CA9289696 rs529963686 |
340 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3718144 CA404679949 rs1184106111 |
340 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1240991533 CA404679931 |
341 | A>V | No |
ClinGen gnomAD |
|
|
CA404679904 rs1599451848 |
343 | Y>S | No |
ClinGen Ensembl |
|
|
rs1447157517 CA404679876 |
344 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404679799 rs1221774526 |
349 | R>C | No |
ClinGen gnomAD |
|
|
CA404679794 rs1349308286 |
349 | R>H | No |
ClinGen gnomAD |
|
|
rs754055705 CA306039601 |
350 | F>L | No |
ClinGen TOPMed |
|
|
CA306039583 rs945225090 |
351 | G>R | No |
ClinGen TOPMed |
|
|
COSM1611771 CA306039572 rs569917645 |
352 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA306039565 rs915063993 |
352 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404679731 rs751507543 |
353 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306039550 rs903296014 |
356 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1164327468 CA404679683 |
356 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404679670 rs1383318080 |
357 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404679672 rs1383318080 |
357 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9289684 rs773419411 |
359 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9289685 rs773419411 |
359 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404679638 rs1213176191 |
359 | A>V | No |
ClinGen gnomAD |
|
|
CA9289683 rs772060787 |
360 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs748249614 CA9289682 |
360 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9289680 rs139615269 |
362 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228309806 COSM1243446 CA404679583 |
362 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA404679547 rs1459960893 |
364 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA306039458 rs911273504 |
366 | S>T | No |
ClinGen TOPMed |
|
|
rs756401116 CA9289677 |
370 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9289674 rs368319089 |
374 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9289675 rs780883013 |
374 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1386876631 CA404679264 COSM992725 |
375 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs909784828 CA306039442 |
375 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs372090950 CA9289671 |
380 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs765130843 CA9289669 |
382 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404679066 rs1184589051 |
382 | I>T | No |
ClinGen gnomAD |
|
|
rs765130843 CA404679079 |
382 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9289667 rs750672590 |
386 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1405386590 CA404678964 |
386 | I>M | No |
ClinGen TOPMed |
|
|
CA404678827 rs1315422422 |
392 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1383991179 CA404678796 |
393 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 393 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308630585 CA404678782 |
394 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 395 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404678694 rs1319298901 |
397 | N>S | No |
ClinGen TOPMed |
|
|
rs199676791 CA9289664 |
397 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217084695 CA404678625 |
399 | P>S | No |
ClinGen TOPMed |
|
|
CA9289662 rs768678924 |
400 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs370347405 CA9289659 |
401 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370347405 CA9289660 |
401 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9289658 rs746238290 |
402 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770595526 CA9289656 |
403 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599451682 CA404678519 |
404 | Q>P | No |
ClinGen Ensembl |
No associated diseases with P10588
6 regional properties for P10588
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Kinesin light chain repeat | 362 - 403 | IPR015792 |
| repeat | Tetratricopeptide repeat | 253 - 286 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 295 - 328 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 337 - 370 | IPR019734-3 |
| repeat | Tetratricopeptide repeat | 379 - 412 | IPR019734-4 |
| repeat | Tetratricopeptide repeat | 464 - 497 | IPR019734-5 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
| zinc ion binding | Binding to a zinc ion (Zn). |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure development | The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| detection of temperature stimulus involved in sensory perception of pain | The series of events involved in the perception of pain in which a temperature stimulus is received and converted into a molecular signal. |
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| 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. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9TTR7 | NR2F2 | COUP transcription factor 2 | Bos taurus (Bovine) | PR |
| O18971 | PPARG | Peroxisome proliferator-activated receptor gamma | Bos taurus (Bovine) | PR |
| Q90733 | NR2F2 | COUP transcription factor 2 | Gallus gallus (Chicken) | PR |
| P68306 | THRB | Thyroid hormone receptor beta | Gallus gallus (Chicken) | PR |
| A7X8B3 | PGR | Progesterone receptor | Pan troglodytes (Chimpanzee) | SS |
| P37231 | PPARG | Peroxisome proliferator-activated receptor gamma | Homo sapiens (Human) | PR |
| P06401 | PGR | Progesterone receptor | Homo sapiens (Human) | EV |
| O75469 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Homo sapiens (Human) | PR |
| P10589 | NR2F1 | COUP transcription factor 1 | Homo sapiens (Human) | PR |
| P24468 | NR2F2 | COUP transcription factor 2 | Homo sapiens (Human) | PR |
| P41235 | HNF4A | Hepatocyte nuclear factor 4-alpha | Homo sapiens (Human) | PR |
| P49116 | NR2C2 | Nuclear receptor subfamily 2 group C member 2 | Homo sapiens (Human) | PR |
| P35396 | Ppard | Peroxisome proliferator-activated receptor delta | Mus musculus (Mouse) | PR |
| P43135 | Nr2f2 | COUP transcription factor 2 | Mus musculus (Mouse) | PR |
| Q00175 | Pgr | Progesterone receptor | Mus musculus (Mouse) | SS |
| Q9Z0Y9 | Nr1h3 | Oxysterols receptor LXR-alpha | Mus musculus (Mouse) | PR |
| P43136 | Nr2f6 | Nuclear receptor subfamily 2 group F member 6 | Mus musculus (Mouse) | PR |
| O62807 | PPARG | Peroxisome proliferator-activated receptor gamma | Sus scrofa (Pig) | PR |
| O09018 | Nr2f2 | COUP transcription factor 2 | Rattus norvegicus (Rat) | PR |
| Q63449 | Pgr | Progesterone receptor | Rattus norvegicus (Rat) | SS |
| Q8SQ01 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Macaca mulatta (Rhesus macaque) | PR |
| G5EFF5 | daf-12 | Nuclear hormone receptor family member daf-12 | Caenorhabditis elegans | PR |
| O45460 | nhr-54 | Nuclear hormone receptor family member nhr-54 | Caenorhabditis elegans | PR |
| Q20765 | nhr-7 | Nuclear hormone receptor family member nhr-7 | Caenorhabditis elegans | PR |
| Q21006 | nhr-34 | Nuclear hormone receptor family member nhr-34 | Caenorhabditis elegans | PR |
| O17928 | nhr-52 | Nuclear hormone receptor family member nhr-52 | Caenorhabditis elegans | PR |
| Q21878 | nhr-1 | Nuclear hormone receptor family member nhr-1 | Caenorhabditis elegans | PR |
| O18141 | nhr-79 | Nuclear hormone receptor family member nhr-79 | Caenorhabditis elegans | PR |
| Q6PH18 | nr2f1b | Nuclear receptor subfamily 2 group F member 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAMVTGGWGG | PGGDTNGVDK | AGGYPRAAED | DSASPPGAAS | DAEPGDEERP | GLQVDCVVCG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DKSSGKHYGV | FTCEGCKSFF | KRSIRRNLSY | TCRSNRDCQI | DQHHRNQCQY | CRLKKCFRVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MRKEAVQRGR | IPHSLPGAVA | ASSGSPPGSA | LAAVASGGDL | FPGQPVSELI | AQLLRAEPYP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AAAGRFGAGG | GAAGAVLGID | NVCELAARLL | FSTVEWARHA | PFFPELPVAD | QVALLRLSWS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELFVLNAAQA | ALPLHTAPLL | AAAGLHAAPM | AAERAVAFMD | QVRAFQEQVD | KLGRLQVDSA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EYGCLKAIAL | FTPDACGLSD | PAHVESLQEK | AQVALTEYVR | AQYPSQPQRF | GRLLLRLPAL |
| 370 | 380 | 390 | 400 | ||
| RAVPASLISQ | LFFMRLVGKT | PIETLIRDML | LSGSTFNWPY | GSGQ |