P24468
PR
Gene name |
NR2F2 (ARP1, TFCOUP2) |
Protein name |
COUP transcription factor 2 |
Names |
COUP-TF2, Apolipoprotein A-I regulatory protein 1, ARP-1, COUP transcription factor II, COUP-TF II, Nuclear receptor subfamily 2 group F member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7026 |
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 P24468
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3CJW | X-ray | 148 A | A | 175-414 | PDB |
| AF-P24468-F1 | Predicted | AlphaFoldDB |
208 variants for P24468
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001231668 rs1236325542 CA393929397 |
2 | A>S | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs901462929 RCV001315961 CA276170310 |
7 | T>A | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA393929534 rs1555446980 RCV000623401 |
22 | Q>* | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000660428 rs1555446983 |
29 | V>missing | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1899167019 RCV001171514 RCV001171517 |
33 | P>missing | Congenital heart defects, multiple types, 4 46,xx sex reversal 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1899167400 RCV001784665 RCV001171518 |
35 | G>missing | 46,xx sex reversal 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775842693 RCV001270868 |
58 | G>R | NR2F2-related congenital heart defects [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794086 CA393929816 rs1381103214 |
68 | S>R | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1899172049 RCV001052373 |
73 | Q>* | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000116201 rs780808943 |
75 | Q>missing | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071766 | 75 | Q>QQ | CHTD4; the mutation results in reduced transcription activation of the EGR1 promoter; does not affect transcription activation of the APOB FT promoter [UniProt] | Yes | UniProt |
|
RCV000515135 CA393929923 rs1555447012 |
83 | G>* | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313025 rs1899174214 |
103 | F>L | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071767 | 170 | D>V | CHTD4 [UniProt] | Yes | UniProt |
|
rs587777372 VAR_071768 CA151540 RCV000116200 |
205 | N>I | Congenital heart defects, multiple types, 4 CHTD4; the mutation results in increased transcription activation of the EGR1 promoter; transcription activation of the APOB promoter is decreased [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001241505 rs1899253390 |
224 | V>D | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341286 rs1899253743 |
228 | R>W | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583275 rs878855066 RCV000234734 |
237 | Q>* | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000735231 CA393931081 rs1567138573 |
249 | W>* | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_071769 | 251 | E>D | CHTD4 [UniProt] | Yes | UniProt |
|
RCV001171515 rs886041730 RCV000384214 |
286 | V>missing | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA393931518 rs1555447237 RCV000624302 |
314 | C>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059942 rs1899261470 |
316 | K>N | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1474147673 RCV001223158 CA393931660 |
334 | V>L | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000116199 RCV000494657 RCV001729389 rs587777371 CA151538 VAR_071770 |
341 | S>Y | Congenital heart defects, multiple types, 4 CHTD4; the mutation results in reduced transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA393931865 rs1596432381 RCV001027967 |
363 | L>I | Congenital heart defects, multiple types, 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000623836 CA393931889 rs1555447465 |
366 | R>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_071771 CA7750854 rs201527820 |
412 | A>S | CHTD4 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1449090765 CA393929420 |
5 | V>A | No |
ClinGen TOPMed |
|
|
CA393929423 rs1300554944 |
6 | S>G | No |
ClinGen gnomAD |
|
|
rs1404672223 CA393929449 |
9 | R>H | No |
ClinGen gnomAD |
|
|
rs1347235516 CA393929450 |
10 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs867681237 CA276170312 |
12 | Q>K | No |
ClinGen Ensembl |
|
|
rs1237379937 CA393929486 |
14 | E>D | No |
ClinGen TOPMed |
|
|
CA276170313 rs1052621749 |
16 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393929500 rs1280133640 |
17 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393929513 rs1596424576 |
19 | Q>P | No |
ClinGen Ensembl |
|
|
rs1352292762 CA393929563 |
26 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1341003670 CA393929562 |
26 | A>S | No |
ClinGen TOPMed |
|
|
rs1288012370 CA393929569 |
27 | P>L | No |
ClinGen gnomAD |
|
|
CA276170315 rs893850255 |
30 | P>H | No |
ClinGen TOPMed |
|
|
rs532275244 CA276170314 |
30 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs532275244 CA393929584 |
30 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA276170317 rs1023568728 |
31 | G>C | No |
ClinGen TOPMed |
|
|
rs1360897061 CA393929598 |
32 | P>R | No |
ClinGen TOPMed |
|
|
CA7750654 rs749296672 |
33 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7750655 rs758377621 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA393929611 rs1371396010 |
35 | G>D | No |
ClinGen TOPMed |
|
|
rs969342408 CA276170318 |
35 | G>S | No |
ClinGen TOPMed |
|
|
rs1237693101 CA393929617 |
36 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393929615 rs1191987271 |
36 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1191987271 CA393929614 |
36 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393929624 rs1236680025 |
37 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1161001624 CA393929637 |
39 | T>K | No |
ClinGen gnomAD |
|
|
rs1163052372 CA393929653 |
41 | Q>H | No |
ClinGen gnomAD |
|
|
CA393929664 rs1351973411 |
43 | P>R | No |
ClinGen gnomAD |
|
|
CA276170319 rs1035340668 |
44 | G>S | No |
ClinGen TOPMed |
|
|
rs1293729710 CA393929674 |
45 | Q>P | No |
ClinGen gnomAD |
|
|
rs1354252480 CA393929693 |
48 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393929740 rs770217449 |
55 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA7750661 rs770217449 |
55 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1237749976 CA393929750 |
57 | A>S | No |
ClinGen gnomAD |
|
|
rs763559795 CA7750663 |
58 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7750662 rs775842693 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1239335964 CA393929770 |
60 | Q>H | No |
ClinGen gnomAD |
|
|
CA393929781 rs1288881382 |
62 | G>D | No |
ClinGen TOPMed |
|
|
rs1472792713 CA393929778 |
62 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7750664 rs763592860 |
63 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393929796 rs1406269156 |
65 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1165232524 CA393929802 |
66 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs920446646 CA393929805 |
66 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA276170321 rs920446646 |
66 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA393929808 rs1376986829 |
67 | G>D | No |
ClinGen gnomAD |
|
|
rs761314012 CA7750666 |
67 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766186920 CA276170322 |
68 | S>G | No |
ClinGen gnomAD |
|
|
CA276170323 rs60286962 |
68 | S>I | No |
ClinGen gnomAD |
|
|
rs60286962 CA393929813 |
68 | S>N | No |
ClinGen gnomAD |
|
|
rs1228634225 CA393929817 |
69 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767114273 CA7750668 |
73 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393929867 rs1200748353 |
75 | Q>P | No |
ClinGen gnomAD |
|
|
CA7750671 rs755839593 |
77 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs753715153 CA7750673 |
78 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393929935 rs1193323808 |
85 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393929973 rs1396656360 |
90 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413359705 CA393929989 COSM368067 |
92 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs916901985 CA276170328 |
92 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 101 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 106 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7750683 rs769096071 |
112 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1344434029 CA393930150 |
115 | C>R | No |
ClinGen gnomAD |
|
|
CA7750686 rs767059013 |
117 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281359002 CA393930177 |
119 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393930245 rs1596425042 |
128 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393930324 rs1373249033 |
138 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 139 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 141 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 141 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393930424 rs1465180594 |
151 | R>T | No |
ClinGen gnomAD |
|
|
CA393930455 rs1379209191 |
155 | P>L | No |
ClinGen gnomAD |
|
|
CA393930463 rs1312608846 |
157 | T>A | No |
ClinGen gnomAD |
|
|
CA393930467 rs1205843186 |
157 | T>I | No |
ClinGen TOPMed |
|
|
rs1596427797 CA393930473 |
158 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 165 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002984316 CA276170542 |
165 | A>V | No |
ClinGen Ensembl |
|
|
CA7750729 rs769711260 |
166 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775487608 CA7750730 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393930538 rs1394071910 |
168 | N>K | No |
ClinGen TOPMed |
|
|
CA7750732 rs143464692 |
172 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1036089807 CA276170543 |
173 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 174 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754051151 CA7750736 |
181 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA393930694 rs1302811943 |
192 | P>R | No |
ClinGen gnomAD |
|
|
CA393930696 rs1596427953 |
193 | T>P | No |
ClinGen Ensembl |
|
|
CA276170545 rs927149153 |
194 | S>P | No |
ClinGen TOPMed |
|
|
CA393930710 rs1320468688 |
195 | R>L | No |
ClinGen gnomAD |
|
|
CA393930725 rs1340256752 |
197 | G>A | No |
ClinGen gnomAD |
|
|
rs1313936705 CA393930721 |
197 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393930756 rs1227439742 |
201 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747521046 CA7750742 |
201 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756760829 CA7750743 |
202 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1482269429 CA393930766 |
203 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1258016564 CA393930776 |
204 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7750745 rs780916977 |
206 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393930794 rs1333559602 |
207 | M>V | No |
ClinGen TOPMed |
|
|
CA7750747 rs769518278 |
212 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7750749 rs749054602 |
217 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774311305 CA7750751 |
219 | M>I | No |
ClinGen ExAC |
|
|
CA393930939 rs1333680417 |
227 | A>V | No |
ClinGen TOPMed |
|
|
CA393930973 rs141514117 |
232 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 237 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393931069 rs1309902561 |
247 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749297542 CA276170549 |
248 | T>I | No |
ClinGen Ensembl |
|
|
rs1243616528 CA393931115 |
253 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 256 | N>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193561443 CA393931143 |
258 | A>T | No |
ClinGen TOPMed |
|
|
CA393931177 rs1467592309 |
262 | M>I | No |
ClinGen TOPMed |
|
|
rs1455606804 CA393931185 |
263 | P>L | No |
ClinGen gnomAD |
|
|
CA393931198 rs757765199 |
265 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393931262 rs774068976 |
276 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7750768 rs774068976 |
276 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7750769 rs747987863 |
277 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA276170552 rs886657413 |
279 | P>A | No |
ClinGen TOPMed |
|
|
rs1286129184 CA393931282 |
280 | M>L | No |
ClinGen gnomAD |
|
|
CA276170553 rs899050920 |
281 | S>T | No |
ClinGen Ensembl |
|
|
rs1221137875 CA393931295 |
282 | A>T | No |
ClinGen gnomAD |
|
|
rs1469880998 CA393931307 CA393931308 |
283 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1194275353 CA393931309 |
284 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596428441 CA393931324 |
286 | V>G | No |
ClinGen Ensembl |
|
|
rs1037849009 CA276170556 |
286 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146156153 CA7750775 |
294 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165407301 CA393931420 |
300 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7750776 rs764508071 |
304 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7750778 rs376446626 |
307 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393931486 rs1567138698 |
309 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 323 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755650157 CA7750781 |
323 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1161618560 CA393931608 |
326 | C>R | No |
ClinGen TOPMed |
|
|
CA7750822 rs750957175 |
328 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs932556557 CA276170922 |
330 | D>V | No |
ClinGen Ensembl |
|
|
CA393931639 rs1408587832 |
331 | V>I | No |
ClinGen gnomAD |
|
|
rs767004289 CA7750824 |
336 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393931686 rs1419608012 |
337 | L>F | No |
ClinGen gnomAD |
|
|
RCV001008293 rs1596432295 |
343 | C>missing | No |
ClinVar dbSNP |
|
|
rs572428060 CA7750829 |
349 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752442942 CA7750828 |
349 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1048270597 CA276170924 |
354 | P>H | No |
ClinGen TOPMed |
|
|
rs1048270597 CA276170925 |
354 | P>R | No |
ClinGen TOPMed |
|
|
rs1435640547 CA393931835 |
358 | T>M | No |
ClinGen gnomAD |
|
|
rs1899366753 RCV001310298 |
361 | G>R | No |
ClinVar dbSNP |
|
| TCGA novel | 364 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393931885 rs1212982694 COSM1375584 |
366 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1268261905 CA393931914 |
371 | R>C | No |
ClinGen TOPMed |
|
|
rs61747589 CA276170929 |
373 | V>G | No |
ClinGen Ensembl |
|
|
rs774418448 CA7750836 COSM966755 |
373 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA276170930 rs939817474 |
374 | S>A | No |
ClinGen gnomAD |
|
|
CA393931947 rs1242243788 |
377 | V>I | No |
ClinGen gnomAD |
|
|
CA393931961 rs748445200 |
379 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7750837 rs748445200 |
379 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393931999 COSM3387165 COSM3387164 rs761123169 |
384 | V>F | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7750840 rs761123169 |
384 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7750844 rs764841953 |
392 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238526150 CA393932082 |
397 | R>W | No |
ClinGen gnomAD |
|
|
rs372340822 CA7750850 |
405 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393932137 rs1468418111 |
405 | S>N | No |
ClinGen TOPMed |
|
|
CA7750852 rs755005420 |
410 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs201527820 CA7750853 |
412 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7750855 rs201527820 |
412 | A>T | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
2 associated diseases with P24468
[MIM: 615779]: Congenital heart defects, multiple types, 4 (CHTD4)
A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. {ECO:0000269|PubMed:24702954}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618901]: 46,XX sex reversal 5 (SRXX5)
A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. {ECO:0000269|PubMed:29478779}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. {ECO:0000269|PubMed:24702954}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. {ECO:0000269|PubMed:29478779}. 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. |
7 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. |
| 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. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| retinoic acid binding | Binding to retinoic acid, 3,7-dimethyl-9-(2,6,-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid. |
| 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
24 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. |
| anterior/posterior pattern specification | The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| blood vessel morphogenesis | The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. |
| 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. |
| female gonad development | The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. |
| fertilization | The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| interneuron migration | The orderly movement of an interneuron from one site to another. |
| lymphatic endothelial cell fate commitment | The commitment of a venous blood vessel endothelial cell to a lymphatic endothelial cell fate and its capacity to differentiate into a lymphatic endothelial cell. |
| maternal placenta development | Maternally driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
| negative regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of endothelial cell migration | Any process that decreases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| negative regulation of endothelial cell proliferation | Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. |
| 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. |
| placenta blood vessel development | The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of systemic arterial blood pressure | The process that increases the force with which blood travels through the systemic arterial circulatory system. |
| 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. |
| radial pattern formation | The regionalization process that results in defined areas around a point in which specific types of cell differentiation will occur. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to estradiol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| skeletal muscle tissue development | The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers. |
| trophoblast giant cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a trophoblast giant cell of the placenta. Trophoblast giant cells are the cell of the placenta that line the maternal decidua. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18971 | PPARG | Peroxisome proliferator-activated receptor gamma | Bos taurus (Bovine) | PR |
| Q9TTR7 | NR2F2 | COUP transcription factor 2 | 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 |
| P10589 | NR2F1 | COUP transcription factor 1 | 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 |
| Q00175 | Pgr | Progesterone receptor | Mus musculus (Mouse) | SS |
| Q9Z0Y9 | Nr1h3 | Oxysterols receptor LXR-alpha | Mus musculus (Mouse) | PR |
| P43135 | Nr2f2 | COUP transcription factor 2 | Mus musculus (Mouse) | PR |
| O62807 | PPARG | Peroxisome proliferator-activated receptor gamma | Sus scrofa (Pig) | PR |
| Q63449 | Pgr | Progesterone receptor | Rattus norvegicus (Rat) | SS |
| O09018 | Nr2f2 | COUP transcription factor 2 | Rattus norvegicus (Rat) | PR |
| 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 |
| MAMVVSTWRD | PQDEVPGSQG | SQASQAPPVP | GPPPGAPHTP | QTPGQGGPAS | TPAQTAAGGQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGPGGPGSDK | QQQQQHIECV | VCGDKSSGKH | YGQFTCEGCK | SFFKRSVRRN | LSYTCRANRN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CPIDQHHRNQ | CQYCRLKKCL | KVGMRREAVQ | RGRMPPTQPT | HGQFALTNGD | PLNCHSYLSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YISLLLRAEP | YPTSRFGSQC | MQPNNIMGIE | NICELAARML | FSAVEWARNI | PFFPDLQITD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVALLRLTWS | ELFVLNAAQC | SMPLHVAPLL | AAAGLHASPM | SADRVVAFMD | HIRIFQEQVE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLKALHVDSA | EYSCLKAIVL | FTSDACGLSD | VAHVESLQEK | SQCALEEYVR | SQYPNQPTRF |
| 370 | 380 | 390 | 400 | 410 | |
| GKLLLRLPSL | RTVSSSVIEQ | LFFVRLVGKT | PIETLIRDML | LSGSSFNWPY | MAIQ |