P10589
PR
Gene name |
NR2F1 (EAR3, ERBAL3, TFCOUP1) |
Protein name |
COUP transcription factor 1 |
Names |
COUP-TF1, COUP transcription factor I, COUP-TF I, Nuclear receptor subfamily 2 group F member 1, V-erbA-related protein 3, EAR-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7025 |
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
2 structures for P10589
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EBL | NMR | - | A | 84-159 | PDB |
| AF-P10589-F1 | Predicted | AlphaFoldDB |
236 variants for P10589
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs886041216 RCV001353108 RCV002518806 RCV000334239 |
1 | M>T | Bosch-Boonstra-Schaaf optic atrophy syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580358347 RCV000824861 |
31 | R>missing | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1159055932 RCV002529373 RCV001370383 |
37 | A>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1753206907 RCV001196876 |
40 | Q>missing | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1753208096 RCV001198789 |
57 | Q>* | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505484 rs1554074665 CA360525865 |
86 | C>F | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192937 rs1753210329 |
86 | C>R | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360525880 RCV000735394 rs1561523716 |
89 | C>R | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000677407 rs1287146448 CA360525937 |
97 | H>D | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1287146448 CA360525938 RCV000824821 |
97 | H>Y | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA360525995 RCV001249826 RCV000519537 rs1554074677 |
105 | G>S | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266705 rs1131691826 RCV000494334 CA360526005 |
106 | C>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1753211889 RCV001254042 |
109 | F>L | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000114390 rs587777277 CA331790 VAR_071319 |
112 | R>K | Bosch-Boonstra-Schaaf optic atrophy syndrome BBSOAS; decreases transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA331788 rs587777275 VAR_071320 RCV000114388 |
113 | S>R | Bosch-Boonstra-Schaaf optic atrophy syndrome BBSOAS; decreases transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA331787 RCV000114387 rs587777274 VAR_071321 |
115 | R>P | Bosch-Boonstra-Schaaf optic atrophy syndrome BBSOAS; decreases transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA279044 rs863224903 RCV000200428 |
128 | C>R | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000677401 rs1022192010 CA123266258 |
135 | R>C | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519434 CA16044221 RCV000416416 |
138 | C>Y | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000677703 RCV000624896 RCV002285376 CA360526263 rs1554074684 |
142 | R>H | Bosch-Boonstra-Schaaf optic atrophy syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360526261 rs1554074684 RCV000623144 |
142 | R>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253426 rs1753213218 |
146 | C>Y | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580358677 CA360526328 RCV001027649 |
151 | M>I | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266279 rs1753264180 |
228 | F>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554074850 CA658821764 RCV000656396 |
244 | Q>* | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777276 RCV000114389 CA331789 VAR_071322 |
252 | L>P | Bosch-Boonstra-Schaaf optic atrophy syndrome BBSOAS; decreases transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1580360308 RCV001027693 |
323 | K>missing | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1753268855 RCV001253606 |
329 | T>missing | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000762151 CA360527719 rs763566932 RCV001199035 |
355 | Y>* | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1753373048 RCV001265635 |
366 | R>H | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505414 CA360527833 rs1554075105 |
372 | L>P | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1297603674 RCV000985203 CA360527835 COSM1217789 |
373 | R>* | Bosch-Boonstra-Schaaf optic atrophy syndrome large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000477887 rs1060499589 CA16616906 |
406 | M>T | Bosch-Boonstra-Schaaf optic atrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796799 RCV000484839 |
1 | M>V | No |
ClinVar dbSNP |
|
|
CA360525317 rs1246796714 |
3 | M>V | No |
ClinGen gnomAD |
|
|
rs1468965930 CA360525335 |
5 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA123266242 rs866714622 |
8 | W>C | No |
ClinGen Ensembl |
|
|
rs1355609849 CA360525363 |
9 | R>Q | No |
ClinGen gnomAD |
|
|
CA360525368 rs1208119157 |
10 | D>Y | No |
ClinGen gnomAD |
|
|
rs1276892077 CA360525377 |
11 | P>Q | No |
ClinGen gnomAD |
|
|
CA360525374 rs1561523479 |
11 | P>T | No |
ClinGen Ensembl |
|
|
rs1204711675 CA360525382 |
12 | Q>* | No |
ClinGen gnomAD |
|
|
CA360525398 rs1193147148 RCV000880785 |
14 | D>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1188763568 CA360525404 |
15 | V>M | No |
ClinGen gnomAD |
|
|
CA360525412 rs1368367588 COSM1544334 |
16 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1161071302 CA360525419 |
17 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360525417 rs962179278 CA123266243 |
17 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1161071302 CA360525420 |
17 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1429915793 CA360525423 |
18 | G>C | No |
ClinGen gnomAD |
|
|
rs1393970085 CA360525432 |
19 | N>S | No |
ClinGen gnomAD |
|
|
rs1334632065 CA360525441 |
21 | G>S | No |
ClinGen gnomAD |
|
|
rs922976793 CA123266245 |
25 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360525467 rs922976793 |
25 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs922976793 CA360525468 |
25 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3343105 rs755210881 |
27 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA360525484 rs1342982789 |
28 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360525506 rs1463156056 |
31 | R>H | No |
ClinGen TOPMed |
|
|
rs954495672 RCV000658342 |
36 | G>missing | No |
ClinVar dbSNP |
|
|
rs1394668822 CA360525535 |
36 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360525533 rs1394668822 |
36 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1366108078 CA360525544 |
37 | A>G | No |
ClinGen TOPMed |
|
|
CA360525581 rs1469585254 |
42 | Q>H | No |
ClinGen TOPMed |
|
|
rs1196388510 CA360525580 |
42 | Q>L | No |
ClinGen TOPMed |
|
|
CA360525602 rs1273388563 |
45 | G>V | No |
ClinGen TOPMed |
|
|
rs1458930150 CA360525607 |
46 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360525626 rs1353929611 |
49 | P>L | No |
ClinGen TOPMed |
|
|
rs1291439079 CA360525640 |
51 | T>K | No |
ClinGen gnomAD |
|
|
rs779045243 CA360525660 |
54 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779045243 CA3343106 |
54 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1255926321 CA360525662 |
55 | P>A | No |
ClinGen gnomAD |
|
|
CA360525664 rs1239598532 |
55 | P>L | No |
ClinGen TOPMed |
|
|
CA360525670 rs1561523610 |
56 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1305029506 CA360525679 |
57 | Q>H | No |
ClinGen TOPMed |
|
|
CA360525682 rs936346582 |
58 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA123266248 rs936346582 RCV000658212 |
58 | P>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA360525695 rs1249280454 |
60 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1167463104 CA360525706 |
62 | A>T | No |
ClinGen gnomAD |
|
|
CA3343109 rs577687465 |
64 | P>L | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 65 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201452963 CA360525722 |
65 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201452963 CA123266250 |
65 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201452963 CA123266249 |
65 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360525744 rs1450288032 |
69 | D>N | No |
ClinGen gnomAD |
|
|
CA360525760 rs1131691363 RCV000494526 |
71 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs771412554 CA3343111 |
74 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3343112 rs776195820 |
76 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776195820 RCV000421900 CA16604948 |
76 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1343326979 CA360525804 |
78 | G>D | No |
ClinGen gnomAD |
|
|
rs1255702001 CA360525803 |
78 | G>S | No |
ClinGen gnomAD |
|
|
rs199844882 CA3343113 RCV000836217 |
79 | Q>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 80 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360525819 rs1561523678 RCV000762150 |
80 | S>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360525844 rs1227785652 |
83 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360525840 rs1269291952 |
83 | H>Y | No |
ClinGen gnomAD |
|
|
CA3343115 rs368393456 |
84 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360525847 rs1286011937 |
84 | I>V | No |
ClinGen TOPMed |
|
|
rs1187336763 CA360525852 |
85 | E>K | No |
ClinGen gnomAD |
|
|
RCV000255287 rs886039714 CA10588406 |
88 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 91 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16621823 RCV000488146 rs1064797311 |
93 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000519522 rs1554074673 CA360525939 |
97 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3343123 rs765329785 |
102 | T>I | No |
ClinGen ExAC |
|
|
CA360525998 RCV000523726 rs1554074681 |
105 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000497695 CA360526021 rs1554074682 |
108 | S>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV002274359 rs1554074682 |
108 | S>N | No |
ClinVar dbSNP |
|
| TCGA novel | 110 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_078708 | 110 | F>del | probable disease-associated variant found in a patient with early infantile epileptic encephalopathy [UniProt] | No | UniProt |
| TCGA novel | 113 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580358650 RCV000998409 |
118 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000760776 rs1561523796 CA360526092 |
118 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057522318 CA16604998 RCV000439198 |
122 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1258374008 CA360526123 |
123 | R>G | No |
ClinGen gnomAD |
|
|
rs1489168410 COSM1071238 CA360526133 |
124 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA123266256 rs376455050 |
125 | N>S | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 128 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778199728 RCV000275857 CA10602929 |
139 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10602977 RCV000298774 rs886041738 |
142 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 149 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3343151 rs781638354 |
158 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746356647 CA3343152 |
159 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580359977 CA360526423 |
164 | T>P | No |
ClinGen Ensembl |
|
|
CA360526435 rs1331865835 |
166 | P>S | No |
ClinGen TOPMed |
|
|
CA360526447 rs1352696376 |
167 | N>K | No |
ClinGen TOPMed |
|
|
CA3343153 rs756724825 |
168 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360526451 rs1325365889 |
168 | P>S | No |
ClinGen TOPMed |
|
|
CA3343154 rs370606773 RCV000488974 |
169 | G>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360526466 rs1274901972 |
170 | Q>H | No |
ClinGen gnomAD |
|
|
CA3343155 rs748864451 |
172 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1071240 rs748864451 CA360526475 |
172 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768294672 CA3343156 |
173 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1580360007 CA360526508 |
177 | D>A | No |
ClinGen Ensembl |
|
|
rs1161717916 RCV001322812 CA360526518 |
178 | P>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA3343157 rs778358851 |
179 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771713174 CA360526546 |
183 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3343159 rs771713174 |
183 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360526561 rs1169353713 |
185 | L>V | No |
ClinGen gnomAD |
|
|
rs868416625 CA123266514 |
186 | S>Y | No |
ClinGen Ensembl |
|
|
CA360526571 rs1561524847 |
187 | G>S | No |
ClinGen Ensembl |
|
|
rs1360109334 CA360526632 |
196 | E>D | No |
ClinGen gnomAD |
|
|
rs1290450514 CA360526634 |
197 | P>A | No |
ClinGen TOPMed |
|
|
CA360526636 rs1462231626 |
197 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360526642 rs1580360056 |
198 | Y>S | No |
ClinGen Ensembl |
|
|
CA123266515 rs368008985 |
201 | S>T | No |
ClinGen ESP |
|
|
CA360526681 rs1368051702 |
204 | G>A | No |
ClinGen gnomAD |
|
|
CA123266516 rs967428663 |
204 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360526712 rs1297726173 |
208 | M>R | No |
ClinGen gnomAD |
|
|
rs776566945 CA3343164 |
211 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA360526756 rs1370852938 |
214 | M>T | No |
ClinGen TOPMed |
|
|
CA360526776 rs1280404063 |
217 | E>Q | No |
ClinGen gnomAD |
|
|
RCV001268194 rs1753263819 |
223 | A>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 223 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3343168 rs762145918 |
229 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA360526880 rs767741067 |
232 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3343171 rs756675459 |
240 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 241 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780649231 CA3343172 |
247 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360527005 rs1428117602 |
250 | S>F | No |
ClinGen gnomAD |
|
|
rs1267363315 CA360527031 |
255 | T>S | No |
ClinGen TOPMed |
|
|
rs995390661 CA123266521 |
257 | S>G | No |
ClinGen Ensembl |
|
|
CA123266522 rs140323285 COSM3381321 |
261 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP |
| TCGA novel | 262 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281166433 CA360527085 |
263 | N>S | No |
ClinGen gnomAD |
|
|
rs1313433161 CA360527120 |
268 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA360527124 rs1488944591 |
269 | M>V | No |
ClinGen TOPMed |
|
|
rs771826396 CA3343177 |
270 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360527149 rs1445339541 |
272 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 276 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3343180 rs770721436 |
284 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751163796 CA123266526 |
287 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350061171 CA360527261 |
290 | D>E | No |
ClinGen gnomAD |
|
|
CA360527284 rs1344824058 |
294 | A>G | No |
ClinGen TOPMed |
|
|
rs1281229857 CA360527294 |
296 | M>L | No |
ClinGen TOPMed |
|
|
rs1352107740 CA360527303 |
297 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761934434 CA3343185 |
298 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767837139 CA123266527 |
301 | I>L | No |
ClinGen ExAC |
|
|
rs767837139 CA3343186 |
301 | I>V | No |
ClinGen ExAC |
|
|
rs369796105 CA3343188 |
304 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766881564 CA3343189 |
309 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220555021 CA360527413 |
313 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149919156 CA3343192 |
321 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360527488 rs1427816254 |
323 | K>R | No |
ClinGen TOPMed |
|
|
rs1482286049 CA360527505 |
326 | V>M | No |
ClinGen gnomAD |
|
|
rs1011650228 CA360527523 |
328 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 329 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360527557 rs1179276792 |
332 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360527595 rs1428684864 |
337 | D>E | No |
ClinGen gnomAD |
|
|
CA360527596 rs1232861954 |
338 | A>T | No |
ClinGen TOPMed |
|
|
CA360527601 rs1192010938 |
338 | A>V | No |
ClinGen gnomAD |
|
|
rs773473731 CA3343225 |
339 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373637336 CA3343227 |
341 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322562699 CA360527631 |
343 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360527671 COSM1071244 rs1385776531 |
348 | S>L | Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA16618225 rs530910180 RCV000483410 |
350 | C>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| TCGA novel | 350 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776020140 CA3343231 |
351 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1283066525 CA360527717 |
355 | Y>C | No |
ClinGen gnomAD |
|
|
rs751140216 CA3343234 |
356 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA123267083 rs1028527666 |
360 | Y>S | No |
ClinGen Ensembl |
|
|
rs1204079915 CA360527776 |
363 | Q>H | No |
ClinGen gnomAD |
|
|
rs764011372 CA123267084 |
366 | R>C | No |
ClinGen Ensembl |
|
|
CA3343240 rs570838351 |
378 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360527863 rs1364375510 |
378 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs377161852 CA3343244 |
381 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1405813262 CA360527880 |
381 | S>Y | No |
ClinGen gnomAD |
|
|
CA3343246 rs746100563 |
383 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs775761102 CA3343248 |
384 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360527905 rs370092446 |
385 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000478365 rs1064794459 |
390 | F>missing | No |
ClinVar dbSNP |
|
|
RCV000519630 CA360527943 rs1420094450 |
390 | F>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA360527946 rs1340248863 |
391 | V>I | No |
ClinGen gnomAD |
|
|
CA123267085 rs1008981901 COSM1165952 |
392 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1580363539 CA360527982 |
397 | T>P | No |
ClinGen Ensembl |
|
|
rs774849931 CA360528026 |
403 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA123267087 rs946373674 |
403 | I>V | No |
ClinGen TOPMed |
|
|
CA3343253 rs766964375 |
405 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373277412 CA3343255 |
412 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 414 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1753375708 RCV001347274 |
414 | N>S | No |
ClinVar dbSNP |
|
| TCGA novel | 418 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3343258 rs539702585 |
418 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs865778263 CA123267088 |
419 | S>F | No |
ClinGen Ensembl |
1 associated diseases with P10589
[MIM: 615722]: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. {ECO:0000269|PubMed:24462372}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. {ECO:0000269|PubMed:24462372}. Note=The disease is caused by variants affecting the gene represented in this entry.
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. |
| 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 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. |
| retinoic acid-responsive element binding | Binding to a retinoic acid-responsive element, a variable direct repeat of the sequence PuGGTCA spaced by five nucleotides (DR5) found in the promoters of retinoic acid-responsive genes, to which retinoic acid receptors bind. |
| 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). |
8 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. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| 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. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| 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. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| 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. |
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 |
| P68306 | THRB | Thyroid hormone receptor beta | Gallus gallus (Chicken) | PR |
| Q90733 | NR2F2 | COUP transcription factor 2 | 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 |
| P10588 | NR2F6 | Nuclear receptor subfamily 2 group F member 6 | 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 |
| P43136 | Nr2f6 | Nuclear receptor subfamily 2 group F member 6 | 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 |
| 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 |
| MAMVVSSWRD | PQDDVAGGNP | GGPNPAAQAA | RGGGGGAGEQ | QQQAGSGAPH | TPQTPGQPGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PATPGTAGDK | GQGPPGSGQS | QQHIECVVCG | DKSSGKHYGQ | FTCEGCKSFF | KRSVRRNLTY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TCRANRNCPI | DQHHRNQCQY | CRLKKCLKVG | MRREAVQRGR | MPPTQPNPGQ | YALTNGDPLN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GHCYLSGYIS | LLLRAEPYPT | SRYGSQCMQP | NNIMGIENIC | ELAARLLFSA | VEWARNIPFF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PDLQITDQVS | LLRLTWSELF | VLNAAQCSMP | LHVAPLLAAA | GLHASPMSAD | RVVAFMDHIR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFQEQVEKLK | ALHVDSAEYS | CLKAIVLFTS | DACGLSDAAH | IESLQEKSQC | ALEEYVRSQY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PNQPSRFGKL | LLRLPSLRTV | SSSVIEQLFF | VRLVGKTPIE | TLIRDMLLSG | SSFNWPYMSI |
| QCS |