P13861
Gene name |
PRKAR2A (PKR2, PRKAR2) |
Protein name |
cAMP-dependent protein kinase type II-alpha regulatory subunit |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5576 |
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

303 variants for P13861
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1412304377 CA352999207 |
4 | I>L | No |
ClinGen gnomAD |
|
CA352999198 rs1559659535 |
5 | Q>* | No |
ClinGen Ensembl |
|
rs375699448 CA2387228 |
5 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750807469 CA352999187 |
6 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352999175 rs1200218187 |
8 | P>L | No |
ClinGen gnomAD |
|
CA352999173 rs1453787015 |
9 | G>R | No |
ClinGen gnomAD |
|
CA352999166 rs1204674286 |
10 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1204674286 CA352999167 |
10 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs570925103 CA2387224 |
11 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA352999141 rs1221910832 |
14 | L>P | No |
ClinGen gnomAD |
|
CA2387223 rs755814366 |
15 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1333004031 CA352999095 |
21 | V>A | No |
ClinGen gnomAD |
|
CA74209872 rs973354419 |
21 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA352999098 rs973354419 |
21 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs34715183 CA74209857 |
22 | L>M | No |
ClinGen Ensembl |
|
rs767096709 CA2387221 |
22 | L>R | No |
ClinGen ExAC gnomAD |
|
CA352999086 rs1466484501 |
23 | R>L | No |
ClinGen TOPMed |
|
CA352999084 rs759540303 |
24 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2387220 rs759540303 |
24 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759540303 CA352999085 |
24 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2387219 rs774485621 |
24 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2387218 rs766432145 |
27 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74209834 rs987570661 |
30 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA74209829 rs923733922 |
32 | F>I | No |
ClinGen Ensembl |
|
CA2387215 rs769854491 |
33 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1193088664 CA352999018 |
34 | V>A | No |
ClinGen gnomAD |
|
rs979145990 CA74209821 |
34 | V>M | No |
ClinGen gnomAD |
|
rs1202019341 CA352998994 |
37 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA2387214 rs748448191 |
38 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1403941344 CA352998981 |
40 | L>M | No |
ClinGen Ensembl |
|
CA352998973 rs1277688995 |
41 | R>L | No |
ClinGen gnomAD |
|
rs768785168 CA2387212 |
42 | E>K | No |
ClinGen ExAC |
|
CA2387211 rs747107238 |
43 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74209809 rs967770390 |
43 | A>T | No |
ClinGen gnomAD |
|
CA352998954 rs1575971919 |
44 | R>L | No |
ClinGen Ensembl |
|
rs550045306 CA74209779 |
45 | A>V | No |
ClinGen 1000Genomes |
|
rs1365311892 CA352998943 |
46 | P>L | No |
ClinGen gnomAD |
|
CA74209776 rs916215824 |
47 | A>V | No |
ClinGen TOPMed |
|
rs955416633 CA74209773 |
48 | S>L | No |
ClinGen TOPMed |
|
CA352998932 rs1321912939 |
49 | V>F | No |
ClinGen gnomAD |
|
rs758938832 CA2387209 |
51 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352998914 rs1404954295 |
52 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs181690449 CA2387208 |
53 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA74209768 rs997168850 |
53 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs779384345 CA2387207 |
54 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1167853048 CA352998890 |
56 | R>L | No |
ClinGen gnomAD |
|
rs567753272 CA2387206 |
59 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2387205 rs752463301 |
60 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1181784306 CA352998859 |
61 | H>L | No |
ClinGen gnomAD |
|
CA352998854 rs1444050942 |
62 | P>S | No |
ClinGen gnomAD |
|
CA2387201 rs751119335 |
63 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352998847 rs751119335 |
63 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2387202 rs751119335 |
63 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1258496154 CA352998848 |
63 | P>S | No |
ClinGen TOPMed |
|
rs766378877 CA2387197 |
64 | P>S | No |
ClinGen ExAC gnomAD |
|
CA352998841 rs1471142223 |
65 | E>K | No |
ClinGen TOPMed |
|
TCGA novel | 65 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA352998832 rs1243207245 |
66 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs200759322 CA2387196 |
66 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2387195 rs200759322 |
66 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1003045784 CA352998826 |
67 | G>D | No |
ClinGen TOPMed |
|
rs1003045784 CA74209721 |
67 | G>V | No |
ClinGen TOPMed |
|
rs1559658876 CA352998822 |
68 | P>A | No |
ClinGen Ensembl |
|
CA2387194 rs372669481 |
68 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2387192 rs776857083 |
69 | D>H | No |
ClinGen ExAC |
|
rs1412394357 CA352998809 |
70 | R>L | No |
ClinGen TOPMed |
|
CA2387190 rs747054161 |
72 | A>S | No |
ClinGen ExAC gnomAD |
|
rs775569804 CA2387189 |
73 | D>N | No |
ClinGen ExAC gnomAD |
|
rs772547535 CA352998787 |
74 | A>P | No |
ClinGen ExAC gnomAD |
|
rs772547535 CA2387188 |
74 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1288824665 CA352998779 |
75 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1041900140 CA74209683 |
76 | G>R | No |
ClinGen TOPMed |
|
CA2387187 rs746428551 |
77 | D>G | No |
ClinGen ExAC gnomAD |
|
CA2387186 rs779144009 |
78 | S>R | No |
ClinGen ExAC gnomAD |
|
CA352998717 rs1408646126 |
80 | S>* | No |
ClinGen TOPMed |
|
rs771382760 CA2387185 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1230995209 CA352998655 |
84 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2387184 rs749627616 |
84 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1468753114 CA352998663 |
84 | E>V | No |
ClinGen gnomAD |
|
CA352998618 rs1483249104 |
87 | E>A | No |
ClinGen gnomAD |
|
TCGA novel | 88 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2387161 rs757982173 |
89 | P>L | No |
ClinGen ExAC gnomAD |
|
CA352998032 rs1321477637 |
91 | P>T | No |
ClinGen gnomAD |
|
CA352998026 rs1343213746 |
92 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs1231100218 CA352998016 |
93 | R>K | No |
ClinGen TOPMed |
|
rs1231100218 CA352998015 |
93 | R>T | No |
ClinGen TOPMed |
|
rs749908420 CA2387160 |
95 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74197844 rs867755154 |
97 | R>Q | No |
ClinGen Ensembl |
|
CA352997950 rs1575889078 |
101 | C>S | No |
ClinGen Ensembl |
|
rs1426604649 CA352997931 |
104 | T>A | No |
ClinGen gnomAD |
|
CA352997927 rs1389036041 |
104 | T>I | No |
ClinGen gnomAD |
|
rs746644588 CA2387144 |
107 | P>A | No |
ClinGen ExAC gnomAD |
|
rs746644588 CA352997909 |
107 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2387143 rs199867642 |
108 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 111 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA352997870 rs1258072720 |
112 | E>G | No |
ClinGen gnomAD |
|
CA2387141 rs745337551 |
113 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352997862 rs745337551 |
113 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778340299 CA2387140 |
114 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757188386 CA2387139 |
115 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749291577 CA2387138 |
117 | R>G | No |
ClinGen ExAC gnomAD |
|
CA2387120 rs770407130 |
118 | V>G | No |
ClinGen ExAC gnomAD |
|
CA353001030 rs748812211 |
119 | I>F | No |
ClinGen ExAC gnomAD |
|
CA353001027 rs1457938591 |
119 | I>S | No |
ClinGen gnomAD |
|
CA2387119 rs748812211 |
119 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1156494668 CA353000999 |
123 | T>S | No |
ClinGen gnomAD |
|
CA2387117 rs777619237 |
125 | E>K | No |
ClinGen ExAC gnomAD |
|
rs879094305 CA74190744 |
129 | R>S | No |
ClinGen Ensembl |
|
rs756075947 CA2387116 |
131 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA2387115 rs748291376 |
131 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA74190737 rs748291376 |
131 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1266801625 CA353000942 |
132 | E>K | No |
ClinGen gnomAD |
|
rs199498651 CA2387114 |
134 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779101322 CA74190720 |
136 | D>G | No |
ClinGen gnomAD |
|
rs755192539 CA2387113 |
136 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1048055263 CA74190713 |
144 | D>E | No |
ClinGen Ensembl |
|
rs751791908 CA2387112 |
145 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766465497 CA2387111 |
145 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs981554178 CA74188897 |
146 | E>D | No |
ClinGen TOPMed |
|
rs746831162 CA2387093 |
146 | E>K | No |
ClinGen ExAC gnomAD |
|
rs746831162 CA353000832 |
146 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA2387092 rs780071307 |
149 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1433947157 CA353000806 |
150 | Q>E | No |
ClinGen gnomAD |
|
CA2387088 rs757835834 |
153 | D>E | No |
ClinGen ExAC gnomAD |
|
CA2387089 rs560353945 |
153 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1468891944 CA353000773 |
155 | M>K | No |
ClinGen Ensembl |
|
rs904524915 CA74188889 |
155 | M>V | No |
ClinGen gnomAD |
|
CA353000759 rs1559617874 |
157 | E>K | No |
ClinGen Ensembl |
|
rs1479261330 CA353000749 |
158 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA2387087 rs754364832 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
CA353000743 rs1489021856 |
159 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs764678772 CA2387086 |
161 | K>T | No |
ClinGen ExAC gnomAD |
|
CA2387085 rs760885038 |
163 | D>A | No |
ClinGen ExAC gnomAD |
|
CA353000700 rs1575871937 |
165 | H>L | No |
ClinGen Ensembl |
|
rs371959163 CA2387084 |
165 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs182210450 CA74188880 |
166 | V>F | No |
ClinGen 1000Genomes |
|
rs1277585553 CA353000691 |
167 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs762639940 CA2387082 |
170 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1211439484 CA353000660 |
171 | D>G | No |
ClinGen gnomAD |
|
CA353000656 rs1202992027 |
172 | D>N | No |
ClinGen TOPMed |
|
CA74188874 rs1021610775 |
173 | G>E | No |
ClinGen Ensembl |
|
CA2387079 rs577790327 |
178 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA353000600 rs1299368108 |
179 | I>M | No |
ClinGen gnomAD |
|
CA353000605 rs1365286322 |
179 | I>V | No |
ClinGen gnomAD |
|
TCGA novel | 180 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1566739 rs201062271 CA2387078 |
181 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
TCGA novel | 185 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs370852251 CA2387059 |
189 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
rs776234506 CA2387058 |
190 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1162724619 CA353000084 |
191 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs763917555 CA2387057 |
192 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414859821 CA353000066 |
193 | Q>P | No |
ClinGen gnomAD |
|
CA2387054 rs147886817 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2387053 rs199776610 |
195 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs199776610 CA353000054 |
195 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2387055 rs147886817 |
195 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74181611 rs936640994 |
197 | V>I | No |
ClinGen Ensembl |
|
rs1181391783 CA353000042 |
198 | G>S | No |
ClinGen gnomAD |
|
CA353000025 rs771219111 |
200 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2387051 rs771219111 |
200 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1450520466 CA353000008 |
202 | N>K | No |
ClinGen gnomAD |
|
rs925193841 CA74181592 |
202 | N>S | No |
ClinGen gnomAD |
|
CA353000004 rs1290226859 |
203 | R>C | No |
ClinGen gnomAD |
|
CA2387050 rs370984187 |
203 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA74181569 rs370984187 |
203 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA74181561 rs78420208 |
207 | G>* | No |
ClinGen Ensembl |
|
TCGA novel | 208 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1376218502 CA352999946 |
212 | M>I | No |
ClinGen gnomAD |
|
rs756543786 CA2387048 |
212 | M>K | No |
ClinGen ExAC gnomAD |
|
CA2387046 rs773371525 |
214 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149225360 COSM308417 CA2387044 |
216 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA2387043 rs200561677 |
218 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145418127 CA2387042 |
220 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
rs1373133879 CA352999886 |
222 | V>L | No |
ClinGen TOPMed |
|
rs1410144174 CA352999874 |
224 | T>A | No |
ClinGen gnomAD |
|
CA352999852 rs1477409426 |
227 | G>D | No |
ClinGen gnomAD |
|
rs768200768 CA74181521 |
231 | G>E | No |
ClinGen Ensembl |
|
rs1408830026 CA352999796 |
234 | R>Q | No |
ClinGen TOPMed |
|
rs767517265 CA2387019 |
234 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1257624583 CA352999793 |
235 | V>M | No |
ClinGen gnomAD |
|
rs759599282 CA2387018 |
239 | R>K | No |
ClinGen ExAC gnomAD |
|
CA74175186 rs745366884 |
241 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA352999751 rs1253605778 |
241 | I>T | No |
ClinGen gnomAD |
|
CA74175185 rs745366884 |
241 | I>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 244 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA352999683 CA2387014 rs773425613 |
250 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2387013 rs769911537 |
251 | M>V | No |
ClinGen ExAC gnomAD |
|
rs761839330 CA2387012 |
254 | S>L | No |
ClinGen ExAC gnomAD |
|
CA352999653 rs1575847192 |
255 | F>I | No |
ClinGen Ensembl |
|
rs1300953461 CA352999626 |
258 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1300953461 CA352999625 |
258 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA352999616 rs1229929940 |
260 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs747583679 CA2387009 |
263 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1575847125 CA352999579 |
266 | E>A | No |
ClinGen Ensembl |
|
rs199701451 CA74174963 |
270 | R>* | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
CA74174965 rs199701451 |
270 | R>G | No |
ClinGen 1000Genomes gnomAD |
|
COSM3427692 rs776689351 CA2386992 |
270 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA2386991 rs768783376 |
273 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1157459209 CA352999515 |
274 | V>E | No |
ClinGen gnomAD |
|
CA74174928 rs1048816587 |
277 | I>T | No |
ClinGen Ensembl |
|
rs1304727640 CA352999467 |
281 | I>T | No |
ClinGen gnomAD |
|
CA2386989 rs775999526 |
281 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2386988 rs2230509 |
282 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1374377776 CA352999444 |
284 | D>G | No |
ClinGen TOPMed |
|
rs1462169659 CA352999441 |
285 | G>R | No |
ClinGen TOPMed |
|
rs541454235 CA2386987 |
287 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs779197243 CA2386986 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352999425 rs779197243 |
287 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74174899 rs777575285 |
288 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1030263167 CA74174896 |
289 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1266447095 CA352999403 |
291 | Q>* | No |
ClinGen gnomAD |
|
rs943125403 CA74168040 |
294 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1327413424 CA352999363 |
295 | A>P | No |
ClinGen gnomAD |
|
CA352999364 rs1327413424 |
295 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2386971 rs552838278 |
299 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
CA2386970 rs775458543 |
301 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1341468844 CA352999301 |
303 | S>Y | No |
ClinGen TOPMed |
|
CA2386967 rs774770539 |
305 | E>G | No |
ClinGen ExAC gnomAD |
|
rs368472573 CA74167949 |
305 | E>K | No |
ClinGen ESP TOPMed |
|
CA74167948 rs368472573 |
305 | E>Q | No |
ClinGen ESP TOPMed |
|
rs1575837050 CA352999284 |
306 | V>G | No |
ClinGen Ensembl |
|
CA2386965 rs375396048 |
307 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352999282 rs1468155106 |
307 | S>R | No |
ClinGen TOPMed |
|
rs776351738 CA2386964 |
308 | I>M | No |
ClinGen ExAC gnomAD |
|
rs768453904 CA2386963 |
310 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1244026936 CA352999253 |
311 | R>K | No |
ClinGen gnomAD |
|
rs987168104 CA74167889 |
312 | S>I | No |
ClinGen Ensembl |
|
CA2386962 rs202143115 |
313 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1575831649 CA352998757 |
314 | T>P | No |
ClinGen Ensembl |
|
CA352998730 rs1249492445 |
316 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA2386947 rs773733467 |
317 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1437900183 CA352998713 |
317 | N>S | No |
ClinGen gnomAD |
|
CA74164459 rs1036860610 |
318 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs768399019 CA2386946 |
320 | G>A | No |
ClinGen ExAC gnomAD |
|
CA352998639 rs978918109 |
322 | N>K | No |
ClinGen Ensembl |
|
rs7430328 CA74164432 |
324 | E>K | No |
ClinGen Ensembl |
|
CA2386944 rs112025762 COSM1692762 |
326 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs771427219 CA2386943 |
327 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1343266127 CA352998579 |
328 | A>P | No |
ClinGen TOPMed |
|
rs1343266127 CA352998578 |
328 | A>S | No |
ClinGen TOPMed |
|
CA2386942 rs146193506 |
329 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2386941 rs778783320 COSM1263054 |
329 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs778783320 CA352998572 |
329 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1387006 CA352998559 |
331 | H>L | No |
ClinGen TOPMed gnomAD |
|
rs1387006 CA74164363 |
331 | H>P | No |
ClinGen TOPMed gnomAD |
|
CA352998558 rs1387006 |
331 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1443111552 CA352998549 |
332 | K>N | No |
ClinGen gnomAD |
|
rs544709818 CA2386940 |
333 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2386938 rs777586837 |
334 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA352998494 COSM3824089 rs1334259503 |
340 | A>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA2386936 rs117433616 |
344 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs117433616 CA352998476 |
344 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200188798 CA2386935 |
344 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1234060932 CA352998464 |
345 | K>N | No |
ClinGen gnomAD |
|
CA352998468 rs1470211366 |
345 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs754942216 CA2386934 |
346 | P>L | No |
ClinGen ExAC gnomAD |
|
rs754942216 CA352998458 |
346 | P>R | No |
ClinGen ExAC gnomAD |
|
CA352998447 rs763603716 |
348 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148604839 CA352998450 |
348 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2386932 rs148604839 |
348 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763603716 CA2386931 |
348 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA74164199 rs920918190 |
349 | A>T | No |
ClinGen TOPMed |
|
CA352998437 rs1355333721 |
350 | S>* | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 353 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA352998421 rs1478995543 |
353 | A>T | No |
ClinGen Ensembl |
|
CA352998412 rs1311610691 |
354 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA74164197 rs80024200 |
355 | G>E | No |
ClinGen gnomAD |
|
rs762253998 CA352998397 |
356 | D>E | No |
ClinGen ExAC gnomAD |
|
CA352998400 rs1375646539 |
356 | D>G | No |
ClinGen gnomAD |
|
CA352998404 rs1402164503 |
356 | D>N | No |
ClinGen gnomAD |
|
CA74164181 rs1015500058 |
358 | K>Q | No |
ClinGen TOPMed |
|
rs1386130525 CA352998388 |
358 | K>T | No |
ClinGen gnomAD |
|
CA2386909 rs762044416 |
363 | D>N | No |
ClinGen ExAC gnomAD |
|
CA2386908 rs754252050 |
364 | V>I | No |
ClinGen ExAC gnomAD |
|
CA352998316 rs1359639281 |
366 | A>V | No |
ClinGen gnomAD |
|
CA352998306 rs1575830708 |
368 | E>K | No |
ClinGen Ensembl |
|
CA2386905 rs375432861 |
373 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1173866135 CA352998267 |
374 | C>F | No |
ClinGen gnomAD |
|
CA74163704 rs1007981501 |
375 | M>T | No |
ClinGen Ensembl |
|
rs762460955 CA2386903 |
378 | M>I | No |
ClinGen ExAC gnomAD |
|
CA352998235 rs1395103802 |
378 | M>T | No |
ClinGen gnomAD |
|
rs1447244254 CA352998217 |
380 | R>S | No |
ClinGen gnomAD |
|
rs1260569973 CA352998207 |
382 | I>V | No |
ClinGen gnomAD |
|
rs772954329 CA2386902 |
384 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA2386901 rs769798310 |
385 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs747845378 CA2386900 |
390 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2386897 rs747300998 |
392 | M>I | No |
ClinGen ExAC gnomAD |
|
CA2386898 rs768966681 |
392 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370946857 CA74163649 |
392 | M>V | No |
ClinGen ESP gnomAD |
|
rs780266948 CA2386896 |
393 | F>S | No |
ClinGen ExAC gnomAD |
|
rs148076464 CA2386895 |
394 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA352998119 rs1311011907 |
395 | S>A | No |
ClinGen gnomAD |
|
rs377673441 CA352998112 |
396 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377673441 CA2386894 |
396 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779242095 CA352998109 |
396 | S>R | No |
ClinGen ExAC gnomAD |
|
rs754123758 CA2386891 |
397 | V>A | No |
ClinGen ExAC gnomAD |
|
rs146859772 CA2386892 |
397 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1206703631 CA352998091 |
400 | G>S | No |
ClinGen TOPMed |
|
rs754615800 CA2386889 |
401 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1013537238 CA74163590 |
402 | L>R | No |
ClinGen TOPMed gnomAD |
|
rs374377380 CA2386887 |
403 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762405819 CA352998065 |
404 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762405819 CA2386886 |
404 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P13861
12 GO annotations of cellular component
Name | Definition |
---|---|
cAMP-dependent protein kinase complex | An enzyme complex, composed of regulatory and catalytic subunits, that catalyzes protein phosphorylation. Inactive forms of the enzyme have two regulatory chains and two catalytic chains; activation by cAMP produces two active catalytic monomers and a regulatory dimer. |
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
ciliary base | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
nucleotide-activated protein kinase complex | A protein complex that possesses nucleotide-dependent protein kinase activity. The nucleotide can be AMP (in S. pombe and human) or ADP (in S. cerevisiae). |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
plasma membrane raft | A membrane raft that is part of the plasma membrane. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
6 GO annotations of molecular function
Name | Definition |
---|---|
cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
cAMP-dependent protein kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a cAMP-dependent protein kinase. |
cAMP-dependent protein kinase regulator activity | Modulation of the activity of the enzyme cAMP-dependent protein kinase. |
protein domain specific binding | Binding to a specific domain of a protein. |
protein kinase A catalytic subunit binding | Binding to one or both of the catalytic subunits of protein kinase A. |
ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
2 GO annotations of biological process
Name | Definition |
---|---|
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
negative regulation of cAMP-dependent protein kinase activity | Any process that stops, prevents or reduces the frequency, rate or extent of cAMP-dependent protein kinase activity. |
23 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P07278 | BCY1 | cAMP-dependent protein kinase regulatory subunit | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
P31322 | PRKAR2B | cAMP-dependent protein kinase type II-beta regulatory subunit | Bos taurus (Bovine) | EV |
P00514 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Bos taurus (Bovine) | EV |
P00515 | PRKAR2A | cAMP-dependent protein kinase type II-alpha regulatory subunit | Bos taurus (Bovine) | EV |
Q5ZM91 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Gallus gallus (Chicken) | SS |
P16905 | Pka-R1 | cAMP-dependent protein kinase type I regulatory subunit | Drosophila melanogaster (Fruit fly) | PR |
P81900 | Pka-R2 | cAMP-dependent protein kinase type II regulatory subunit | Drosophila melanogaster (Fruit fly) | PR |
Q96M20 | CNBD2 | Cyclic nucleotide-binding domain-containing protein 2 | Homo sapiens (Human) | PR |
P10644 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Homo sapiens (Human) | EV |
P31321 | PRKAR1B | cAMP-dependent protein kinase type I-beta regulatory subunit | Homo sapiens (Human) | EV |
P31323 | PRKAR2B | cAMP-dependent protein kinase type II-beta regulatory subunit | Homo sapiens (Human) | PR |
Q9D5U8 | Cnbd2 | Cyclic nucleotide-binding domain-containing protein 2 | Mus musculus (Mouse) | PR |
P12849 | Prkar1b | cAMP-dependent protein kinase type I-beta regulatory subunit | Mus musculus (Mouse) | PR |
P31324 | Prkar2b | cAMP-dependent protein kinase type II-beta regulatory subunit | Mus musculus (Mouse) | PR |
Q9DBC7 | Prkar1a | cAMP-dependent protein kinase type I-alpha regulatory subunit [Cleaved into: cAMP-dependent protein kinase type I-alpha regulatory subunit, N-terminally processed] | Mus musculus (Mouse) | SS |
P12367 | Prkar2a | cAMP-dependent protein kinase type II-alpha regulatory subunit | Mus musculus (Mouse) | PR |
P05207 | PRKAR2A | cAMP-dependent protein kinase type II-alpha regulatory subunit | Sus scrofa (Pig) | SS |
P07802 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Sus scrofa (Pig) | SS |
P81377 | Prkar1b | cAMP-dependent protein kinase type I-beta regulatory subunit | Rattus norvegicus (Rat) | PR |
P09456 | Prkar1a | cAMP-dependent protein kinase type I-alpha regulatory subunit | Rattus norvegicus (Rat) | SS |
P12369 | Prkar2b | cAMP-dependent protein kinase type II-beta regulatory subunit | Rattus norvegicus (Rat) | PR |
P12368 | Prkar2a | cAMP-dependent protein kinase type II-alpha regulatory subunit | Rattus norvegicus (Rat) | PR |
P30625 | kin-2 | cAMP-dependent protein kinase regulatory subunit | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSHIQIPPGL | TELLQGYTVE | VLRQQPPDLV | EFAVEYFTRL | REARAPASVL | PAATPRQSLG |
70 | 80 | 90 | 100 | 110 | 120 |
HPPPEPGPDR | VADAKGDSES | EEDEDLEVPV | PSRFNRRVSV | CAETYNPDEE | EEDTDPRVIH |
130 | 140 | 150 | 160 | 170 | 180 |
PKTDEQRCRL | QEACKDILLF | KNLDQEQLSQ | VLDAMFERIV | KADEHVIDQG | DDGDNFYVIE |
190 | 200 | 210 | 220 | 230 | 240 |
RGTYDILVTK | DNQTRSVGQY | DNRGSFGELA | LMYNTPRAAT | IVATSEGSLW | GLDRVTFRRI |
250 | 260 | 270 | 280 | 290 | 300 |
IVKNNAKKRK | MFESFIESVP | LLKSLEVSER | MKIVDVIGEK | IYKDGERIIT | QGEKADSFYI |
310 | 320 | 330 | 340 | 350 | 360 |
IESGEVSILI | RSRTKSNKDG | GNQEVEIARC | HKGQYFGELA | LVTNKPRAAS | AYAVGDVKCL |
370 | 380 | 390 | 400 | ||
VMDVQAFERL | LGPCMDIMKR | NISHYEEQLV | KMFGSSVDLG | NLGQ |