P17544
Gene name |
ATF7 (ATFA) |
Protein name |
Cyclic AMP-dependent transcription factor ATF-7 |
Names |
cAMP-dependent transcription factor ATF-7, Activating transcription factor 7, Transcription factor ATF-A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11016 |
EC number |
|
Protein Class |
|

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
Functions
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 |