Descriptions

(Annotation based on sequence homology with P15336)
ATF-2 is a cellular basic region-leucine zipper (bZIP) transcription factor that can mediate diverse transcriptional responses, including activation by the adenovirus Ela protein. ATF-2 contains an activation domain, required for transcriptional activity, but in the absence of an appropriate inducer, full-length ATF-2 is transcriptionally inactive. The ATF-2 bZIP (residues 350-415) suppresses the ATF-2 and the related Ela activation domains but not acidic- and glutamine-rich activation domains. The ATF-2 bZIP and activation domain are engaged in an inhibitory intramolecular interaction and the inducers of ATF-2 disrupt this interaction to activate transcription.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P17544

Entry ID Method Resolution Chain Position Source
AF-P17544-F1 Predicted AlphaFoldDB

280 variants for P17544

Variant ID(s) Position Change Description Diseaes Association Provenance
rs750602287
CA6602812
2 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs372629058
CA6602810
4 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385227927
rs1565589241
8 V>L No ClinGen
Ensembl
CA237203886
rs917606606
10 N>S No ClinGen
TOPMed
CA385227862
rs1374407068
12 P>A No ClinGen
TOPMed
gnomAD
CA385227857
rs201947521
12 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6602808
rs201947521
12 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA385227810
rs1565589173
15 G>A No ClinGen
Ensembl
rs759982875
CA6602786
21 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs777012356
CA6602785
29 H>Q No ClinGen
ExAC
TOPMed
CA385086198
rs1426936540
29 H>Y No ClinGen
gnomAD
rs367614281
CA6602782
39 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385085949
rs1204593056
40 A>G No ClinGen
gnomAD
rs1463954473
CA385085937
COSM941040
41 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA385085922
rs1210281470
42 T>N No ClinGen
TOPMed
rs748832822
CA6602780
44 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA385083356
rs1345294041
51 T>M No ClinGen
gnomAD
rs1384143079
CA385083345
52 P>R No ClinGen
TOPMed
gnomAD
rs766713782
CA6602763
53 T>S No ClinGen
ExAC
gnomAD
rs375152787
CA6602762
55 T>S No ClinGen
ESP
ExAC
gnomAD
CA385083249
rs1338586322
59 K>N Variant assessed as Somatic; 4.874e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6602761
rs773957754
60 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs550085986
CA6602759
68 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775028139
CA6602758
69 E>D No ClinGen
ExAC
gnomAD
CA6602755
rs775488861
76 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs770845683
CA6602754
78 F>L No ClinGen
ExAC
gnomAD
rs894453225
CA237359810
81 A>V No ClinGen
Ensembl
rs1250238840
CA385082953
82 A>S No ClinGen
gnomAD
rs1250238840
CA385082956
82 A>T No ClinGen
gnomAD
CA385082947
rs1202645721
82 A>V No ClinGen
gnomAD
CA385082906
rs1463592018
84 E>D No ClinGen
TOPMed
gnomAD
rs746841064
CA6602753
86 E>K No ClinGen
ExAC
gnomAD
CA237359809
rs370615566
87 K>E No ClinGen
ESP
rs771041872
CA6602734
90 A>V No ClinGen
ExAC
gnomAD
CA385080794
rs1352563187
91 A>S No ClinGen
TOPMed
gnomAD
rs746973760
CA6602733
93 P>L No ClinGen
ExAC
gnomAD
rs1325571451
CA385080716
COSM1188511
96 M>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs377338085
CA6602731
97 S>F No ClinGen
ESP
ExAC
gnomAD
CA6602730
rs748388475
99 P>L No ClinGen
ExAC
gnomAD
rs779068166
CA6602729
101 T>A No ClinGen
ExAC
gnomAD
CA6602728
rs768746722
103 D>G No ClinGen
ExAC
gnomAD
rs749373628
CA6602727
104 I>M No ClinGen
ExAC
gnomAD
CA237358381
rs536043254
104 I>T No ClinGen
1000Genomes
gnomAD
CA6602726
rs780132757
105 K>R No ClinGen
ExAC
gnomAD
rs149888264
CA385080519
111 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs547054037
CA6602723
111 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs149888264
CA6602724
111 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1329674334
CA385080512
112 V>L No ClinGen
gnomAD
CA385080475
rs1592815088
115 D>A No ClinGen
Ensembl
rs570482405
CA6602721
116 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA385080456
rs1592815066
117 S>P No ClinGen
Ensembl
CA237358372
rs759070419
119 P>S No ClinGen
TOPMed
rs752391905
CA6602720
120 D>N No ClinGen
ExAC
gnomAD
CA385080378
rs1264093826
123 A>G No ClinGen
gnomAD
CA237358371
rs1001038358
124 S>C No ClinGen
Ensembl
CA385080328
rs1459274128
127 C>R No ClinGen
gnomAD
rs753357293
CA6602718
129 P>A No ClinGen
ExAC
gnomAD
rs753357293
CA6602717
129 P>S No ClinGen
ExAC
gnomAD
rs760630122
CA385080290
130 P>Q No ClinGen
ExAC
gnomAD
rs760630122
CA6602715
130 P>R No ClinGen
ExAC
gnomAD
rs765992393
CA6602716
130 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA237358367
rs756543569
133 E>G No ClinGen
TOPMed
gnomAD
rs773338922
CA6602714
133 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1360548051
CA385079514
136 V>F No ClinGen
TOPMed
gnomAD
CA385079493
rs1565929320
137 T>N No ClinGen
Ensembl
rs1592808249
CA385079498
137 T>P No ClinGen
Ensembl
CA385079454
rs1387823346
140 P>A No ClinGen
gnomAD
rs1565929293
CA385079436
141 V>D No ClinGen
Ensembl
CA385079416
rs1388109792
143 I>F No ClinGen
gnomAD
rs1165304667
CA385079388
145 T>A No ClinGen
TOPMed
gnomAD
rs1425063517
CA385079383
145 T>N No ClinGen
TOPMed
gnomAD
rs1165304667
CA385079390
145 T>P No ClinGen
TOPMed
gnomAD
CA6602695
rs767401896
146 P>S No ClinGen
ExAC
gnomAD
rs773980962
CA6602693
149 T>A No ClinGen
ExAC
gnomAD
rs773980962
CA385079332
149 T>P No ClinGen
ExAC
gnomAD
CA385079313
rs1484151341
150 I>V No ClinGen
gnomAD
rs1237825732
CA385079297
151 V>I No ClinGen
gnomAD
rs1211928764
CA385079281
COSM3398854
152 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs768505148
COSM3772664
CA6602692
152 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1272616708
CA385079245
154 G>V No ClinGen
TOPMed
gnomAD
CA385079241
rs1592808002
155 S>P No ClinGen
Ensembl
rs763108851
CA6602691
158 L>P No ClinGen
ExAC
gnomAD
rs558589104
CA6602689
159 H>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6602688
rs558589104
159 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1381854521
CA385079173
160 L>F No ClinGen
gnomAD
rs747554656
CA6602685
161 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA6602686
rs747554656
161 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs747554656
CA385079168
161 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs367730193
CA6602684
162 Y>C No ClinGen
ESP
ExAC
gnomAD
CA385079131
rs1309330356
167 P>A No ClinGen
gnomAD
CA385079122
rs1429754568
168 T>N No ClinGen
gnomAD
CA385079125
rs1592807877
168 T>P No ClinGen
Ensembl
CA6602681
rs779890063
172 P>L No ClinGen
ExAC
gnomAD
CA237357631
rs1048148817
172 P>S No ClinGen
Ensembl
rs755660019
CA6602680
173 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs767082558
CA6602678
177 T>A No ClinGen
ExAC
gnomAD
rs1249823603
CA385079048
178 Q>* No ClinGen
TOPMed
gnomAD
rs1249823603
CA385079050
178 Q>E No ClinGen
TOPMed
gnomAD
CA237357629
rs539048082
178 Q>H No ClinGen
gnomAD
rs757078736
CA6602677
184 R>T No ClinGen
ExAC
gnomAD
rs751531265
CA6602676
186 M>I No ClinGen
ExAC
gnomAD
CA385078728
rs1304588401
192 S>T No ClinGen
gnomAD
rs772532612
CA6602665
192 S>Y No ClinGen
ExAC
gnomAD
CA237356877
rs867384786
198 H>R No ClinGen
TOPMed
rs1274279486
CA385078556
200 A>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA385078398
rs1296075393
205 M>T No ClinGen
gnomAD
CA237356864
rs978219733
216 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA237356858
rs777022786
219 I>M No ClinGen
gnomAD
rs372435342
COSM941038
CA6602660
220 S>L endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs945074150
CA237356848
220 S>P No ClinGen
TOPMed
rs544146784
CA6602639
222 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1367224951
CA385076658
225 V>M No ClinGen
gnomAD
rs1395182061
CA385076612
226 S>T No ClinGen
gnomAD
CA385076600
rs1360368616
227 M>L No ClinGen
TOPMed
CA6602637
rs769158979
228 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6602638
rs371280390
228 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA237356484
rs1009302687
231 I>M No ClinGen
Ensembl
CA6602636
rs745497695
231 I>S No ClinGen
ExAC
gnomAD
rs1448235783
CA385076465
232 P>H No ClinGen
gnomAD
CA385076440
rs1250372470
233 G>V No ClinGen
gnomAD
rs1254501724
CA385076373
235 P>L No ClinGen
gnomAD
CA6602635
rs377621370
235 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6602634
rs770319516
236 G>V No ClinGen
ExAC
gnomAD
rs777288564
CA6602632
237 P>L No ClinGen
ExAC
gnomAD
CA6602633
rs746579725
237 P>S No ClinGen
ExAC
gnomAD
CA6602630
rs375304633
241 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6602629
rs778664832
242 S>R No ClinGen
ExAC
gnomAD
rs1000723515
CA237356471
243 G>D No ClinGen
TOPMed
CA6602628
rs754866750
245 I>L No ClinGen
ExAC
gnomAD
CA385076113
rs1592802362
248 S>P No ClinGen
Ensembl
CA385076047
rs1592802339
250 H>P No ClinGen
Ensembl
CA6602626
rs200070412
250 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA6602625
rs760825979
251 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1238956800
CA385076028
251 P>T No ClinGen
TOPMed
CA385075988
rs1427834284
252 I>T No ClinGen
gnomAD
CA385075967
rs1421720665
253 P>L No ClinGen
gnomAD
CA6602624
rs750472425
256 A>T No ClinGen
ExAC
gnomAD
rs903706927
CA237356467
258 M>T No ClinGen
TOPMed
gnomAD
rs373048999
CA6602611
259 R>K No ClinGen
ESP
ExAC
CA385075712
rs1470947163
262 A>V No ClinGen
gnomAD
rs1319296570
CA385075676
265 T>I No ClinGen
TOPMed
rs753617105
CA6602610
265 T>S No ClinGen
ExAC
gnomAD
rs1319296570
CA385075678
265 T>S No ClinGen
TOPMed
CA237356187
rs370004741
266 H>Q No ClinGen
ESP
TOPMed
gnomAD
CA385075669
rs1464454373
266 H>R No ClinGen
TOPMed
rs779740185
CA6602609
266 H>Y No ClinGen
ExAC
gnomAD
rs1402625370
CA385075654
267 Q>H No ClinGen
TOPMed
CA6602608
rs377461299
268 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385075633
rs1291863744
269 S>Y No ClinGen
gnomAD
rs750683783
CA6602607
270 S>L No ClinGen
ExAC
gnomAD
CA385075602
rs1265971342
271 I>V No ClinGen
gnomAD
rs544572146
CA385075566
272 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544572146
CA6602606
272 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760681922
CA237356171
274 G>V No ClinGen
Ensembl
CA6602605
rs762053427
275 C>Y No ClinGen
ExAC
gnomAD
rs539011357
CA237356142
276 G>R No ClinGen
Ensembl
CA6602603
rs764750823
277 M>I No ClinGen
ExAC
gnomAD
rs752086200
CA385075438
277 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA6602604
rs752086200
277 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6602602
rs763392814
278 V>L No ClinGen
ExAC
gnomAD
rs1388430101
CA385075343
280 G>S No ClinGen
gnomAD
CA6602598
rs760319013
282 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1408175219
CA385075187
286 V>M No ClinGen
gnomAD
rs775588703
CA6602594
289 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs775588703
CA6602595
289 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs199777559
CA6602592
289 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199777559
CA6602593
289 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6602591
rs779837589
290 P>L No ClinGen
ExAC
gnomAD
CA6602589
rs139241958
294 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1318973503
CA385074909
295 I>V No ClinGen
TOPMed
gnomAD
CA6602587
rs200961997
296 L>I No ClinGen
1000Genomes
ExAC
gnomAD
CA6602585
rs764112606
299 H>P No ClinGen
ExAC
gnomAD
rs1592800253
CA385074684
302 A>P No ClinGen
Ensembl
CA6602583
rs753159900
303 P>L No ClinGen
ExAC
gnomAD
rs77776977
CA6602582
304 S>P No ClinGen
ExAC
gnomAD
rs1333168665
CA385074608
305 P>R No ClinGen
gnomAD
rs772827879
CA6602580
306 A>P No ClinGen
ExAC
gnomAD
CA385074555
rs1448800795
307 Q>R No ClinGen
TOPMed
gnomAD
rs753215408
CA6602562
313 A>S No ClinGen
ExAC
gnomAD
CA237350155
rs953991849
314 Q>E No ClinGen
TOPMed
CA385071998
rs1231786260
314 Q>R No ClinGen
gnomAD
CA385071948
rs112122884
316 T>N No ClinGen
TOPMed
gnomAD
CA237350153
rs112122884
316 T>S No ClinGen
TOPMed
gnomAD
rs765711886
CA385071910
318 S>C No ClinGen
ExAC
gnomAD
CA6602561
rs765711886
318 S>G No ClinGen
ExAC
gnomAD
rs755497609
CA6602560
318 S>I No ClinGen
ExAC
gnomAD
CA385071885
rs754161452
319 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs754161452
CA385071891
319 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs754161452
CA6602559
319 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA237350130
rs753884312
322 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6602555
rs763653671
323 R>P No ClinGen
ExAC
gnomAD
rs763653671
CA6602556
323 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA237350124
rs371745709
323 R>W No ClinGen
ESP
gnomAD
CA237350118
rs201908592
324 R>Q No ClinGen
TOPMed
gnomAD
CA6602554
rs762412634
324 R>W No ClinGen
ExAC
gnomAD
CA6602551
rs759577252
325 R>H No ClinGen
ExAC
gnomAD
rs759577252
CA6602552
325 R>L No ClinGen
ExAC
gnomAD
CA385071751
rs1565919438
326 T>A No ClinGen
Ensembl
rs1592781269
CA385071700
327 V>I No ClinGen
Ensembl
rs770864141
CA6602549
328 D>V No ClinGen
ExAC
gnomAD
rs776502480
CA6602550
328 D>Y No ClinGen
ExAC
gnomAD
CA385071619
rs1337461013
329 E>K No ClinGen
gnomAD
CA6602548
rs747223058
330 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA385071357
COSM3792771
rs1333584812
334 R>Q Variant assessed as Somatic; 4.792e-05 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA385071331
rs1306023146
335 R>Q No ClinGen
TOPMed
CA385071269
rs1391408696
337 R>C No ClinGen
gnomAD
rs760791156
CA237350086
337 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA385071153
rs1309875882
342 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA385071156
rs1309875882
342 N>T No ClinGen
TOPMed
CA385071141
rs1442969845
343 R>Q No ClinGen
gnomAD
CA385071146
rs772167688
343 R>W No ClinGen
ExAC
gnomAD
CA385070907
rs1362206328
353 R>Q No ClinGen
gnomAD
CA385070846
rs1324096564
355 L>V No ClinGen
TOPMed
CA919091197
rs1565919291
356 W>* No ClinGen
Ensembl
rs1592781048
CA385070766
358 S>A No ClinGen
Ensembl
CA6602543
rs375648683
359 S>T No ClinGen
ESP
ExAC
gnomAD
rs1419820889
CA385070689
362 K>Q No ClinGen
gnomAD
CA385070629
rs1192363054
365 E>K No ClinGen
gnomAD
CA6602542
rs754353322
366 E>V No ClinGen
ExAC
gnomAD
CA385070485
rs1348115201
370 Q>H No ClinGen
TOPMed
gnomAD
rs370788955
CA6602541
372 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385070380
rs1239310564
374 L>V No ClinGen
gnomAD
CA385070131
rs1487695345
376 N>Y No ClinGen
TOPMed
CA6602525
rs748406956
382 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6602524
rs778796399
383 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs768778931
CA6602523
384 E>K No ClinGen
ExAC
gnomAD
rs976363361
CA237349477
396 K>E No ClinGen
Ensembl
CA385069577
rs1409157464
397 D>V No ClinGen
TOPMed
CA6602522
rs749787942
400 V>L No ClinGen
ExAC
gnomAD
CA385069492
rs1592778512
401 T>S No ClinGen
Ensembl
CA385069365
rs1456197222
408 Q>P No ClinGen
TOPMed
CA6602518
rs145586636
409 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6602519
rs145586636
409 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1376138037
CA385069322
410 Y>S No ClinGen
gnomAD
CA6602502
rs770163984
420 P>S No ClinGen
ExAC
gnomAD
rs746395605
CA6602501
421 T>A No ClinGen
ExAC
gnomAD
rs781357887
CA6602500
421 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs757702111
CA6602499
423 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6602498
rs747755290
424 P>A No ClinGen
ExAC
gnomAD
CA385066777
rs1439506410
425 A>S No ClinGen
gnomAD
rs1273701636
CA385066697
429 Q>R No ClinGen
gnomAD
rs778750390
CA6602497
430 H>R No ClinGen
ExAC
gnomAD
rs774608144
CA385066568
434 T>I No ClinGen
gnomAD
CA237346672
rs774608144
434 T>K No ClinGen
gnomAD
rs1592764173
CA385066578
434 T>P No ClinGen
Ensembl
rs1344386728
CA385066559
435 A>T No ClinGen
TOPMed
CA385066520
rs1291459229
437 S>C No ClinGen
Ensembl
CA385066518
rs1274788521
437 S>N No ClinGen
gnomAD
rs1235394870
CA385066482
438 N>S No ClinGen
TOPMed
gnomAD
CA385066419
rs1392607871
441 S>R No ClinGen
TOPMed
CA6602496
rs200035659
442 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1512461
CA385066376
rs1326602415
443 R>C lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs560379424
CA6602495
443 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6602493
rs376315527
445 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1306994461
CA385066313
445 A>T No ClinGen
TOPMed
rs1230673269
CA385066285
446 A>V No ClinGen
TOPMed
CA385066222
rs1565913324
451 T>N No ClinGen
Ensembl
CA385066231
rs1592763990
451 T>P No ClinGen
Ensembl
CA6602492
rs750432602
452 S>L No ClinGen
ExAC
gnomAD
CA237346647
rs759923052
452 S>P No ClinGen
Ensembl
rs1592763905
CA385066139
455 T>P No ClinGen
Ensembl
CA385066086
rs1212699908
456 Q>H No ClinGen
TOPMed
CA237346641
rs868781389
458 A>V No ClinGen
TOPMed
rs1461647467
CA385065990
459 S>N No ClinGen
TOPMed
gnomAD
CA6602489
rs561172676
464 L>P No ClinGen
ExAC
gnomAD
CA385065804
rs1407229750
465 S>I No ClinGen
TOPMed
CA385065763
rs1192983306
466 M>I No ClinGen
gnomAD
rs922425121
CA237346589
467 P>L No ClinGen
gnomAD
CA237346603
rs866863073
467 P>S No ClinGen
Ensembl
CA6602486
rs369327954
469 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1461064502
CA385065661
470 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs574027901
CA237346564
471 H>R No ClinGen
Ensembl
CA6602482
rs771171680
472 V>I No ClinGen
ExAC
gnomAD
rs1280164795
CA385065575
473 I>T No ClinGen
gnomAD
CA6602481
rs747327111
473 I>V No ClinGen
ExAC
gnomAD
CA385065564
rs1592763681
474 M>V No ClinGen
Ensembl
rs369186071
CA6602479
481 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369186071
CA6602480
481 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1328362953
CA385065384
482 G>D No ClinGen
gnomAD
CA385065368
rs1442174240
483 R>K No ClinGen
gnomAD

No associated diseases with P17544

2 regional properties for P17544

Type Name Position InterPro Accession
domain Protein kinase domain 120 - 380 IPR000719
active_site Serine/threonine-protein kinase, active site 239 - 251 IPR008271

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Nucleus, nucleoplasm
  • Chromosome, telomere
  • Mainly nucleoplasmic
  • Restricted distribution to the perinuculear region
  • The sumoylated form locates to the nuclear periphery
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
RNA polymerase II transcription regulator complex A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

11 GO annotations of molecular function

Name Definition
cAMP response element binding Binding to a cyclic AMP response element (CRE), a short palindrome-containing sequence found in the promoters of genes whose expression is regulated in response to cyclic AMP.
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.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
metal ion binding Binding to a metal ion.
mitogen-activated protein kinase binding Binding to a mitogen-activated protein kinase.
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 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.
transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
transcription coactivator binding Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery.

4 GO annotations of biological process

Name Definition
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.
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 DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O93602 ATF2 Cyclic AMP-dependent transcription factor ATF-2 Gallus gallus (Chicken) SS
P15408 FOSL2 Fos-related antigen 2 Homo sapiens (Human) PR
Q02930 CREB5 Cyclic AMP-responsive element-binding protein 5 Homo sapiens (Human) SS
P15336 ATF2 Cyclic AMP-dependent transcription factor ATF-2 Homo sapiens (Human) EV
P47930 Fosl2 Fos-related antigen 2 Mus musculus (Mouse) PR
P16951 Atf2 Cyclic AMP-dependent transcription factor ATF-2 Mus musculus (Mouse) SS
Q8R0S1 Atf7 Cyclic AMP-dependent transcription factor ATF-7 Mus musculus (Mouse) PR
Q00969 Atf2 Cyclic AMP-dependent transcription factor ATF-2 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MGDDRPFVCN APGCGQRFTN EDHLAVHKHK HEMTLKFGPA RTDSVIIADQ TPTPTRFLKN
70 80 90 100 110 120
CEEVGLFNEL ASSFEHEFKK AADEDEKKAA AGPLDMSLPS TPDIKIKEEE PVEVDSSPPD
130 140 150 160 170 180
SPASSPCSPP LKEKEVTPKP VLISTPTPTI VRPGSLPLHL GYDPLHPTLP SPTSVITQAP
190 200 210 220 230 240
PSNRQMGSPT GSLPLVMHLA NGQTMPVLPG PPVQMPSVIS LARPVSMVPN IPGIPGPPVN
250 260 270 280 290 300
SSGSISPSGH PIPSEAKMRL KATLTHQVSS INGGCGMVVG TASTMVTARP EQSQILIQHP
310 320 330 340 350 360
DAPSPAQPQV SPAQPTPSTG GRRRRTVDED PDERRQRFLE RNRAAASRCR QKRKLWVSSL
370 380 390 400 410 420
EKKAEELTSQ NIQLSNEVTL LRNEVAQLKQ LLLAHKDCPV TALQKKTQGY LESPKESSEP
430 440 450 460 470 480
TGSPAPVIQH SSATAPSNGL SVRSAAEAVA TSVLTQMASQ RTELSMPIQS HVIMTPQSQS
AGR