B7U540
PR
Gene name |
KCNJ18 |
Protein name |
Inward rectifier potassium channel 18 |
Names |
Inward rectifier K(+) channel Kir2.6, Potassium channel, inwardly rectifying subfamily J member 18 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:100134444 |
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
1 structures for B7U540
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-B7U540-F1 | Predicted | AlphaFoldDB |
314 variants for B7U540
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_079833 | 126 | Q>del | TTPP2; abolishes potassium inward and outward currents density [UniProt] | Yes | UniProt |
|
rs527236152 CA345723 VAR_063286 |
140 | T>M | TTPP2 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV000000228 rs527236153 |
144 | I>missing | Thyrotoxic periodic paralysis, susceptibility to, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs527236154 VAR_079834 CA345725 |
168 | V>M | TTPP2; unknown pathological significance; decreases potassium inward and outward currents density; reduces cell surface abundance; reduces open propability; dominant negative mutation [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
rs672601244 CA114051 RCV000000230 VAR_063287 |
205 | R>H | Thyrotoxic periodic paralysis, susceptibility to, 2 TTPP2; hypermorphic; longer time required for half-maximal current degradation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1469374904 CA398489243 RCV000523433 |
219 | R>C | Thyrotoxic periodic paralysis, susceptibility to, 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs527236158 CA114049 RCV000000229 VAR_063288 |
354 | T>M | Thyrotoxic periodic paralysis, susceptibility to, 2 TTPP2; small decrease in current density [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_079838 | 360 | K>T | TTPP2; abolishes potassium inward and outward currents density [UniProt] | Yes | UniProt |
|
RCV000000231 VAR_063289 CA114053 rs527236159 |
366 | K>R | Thyrotoxic periodic paralysis, susceptibility to, 2 TTPP2; hypermorphic; longer time required for half-maximal current degradation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_079839 | 388 | E>K | TTPP2; reduces potassium inward and outward currents density [UniProt] | Yes | UniProt |
|
CA398487251 rs1174088157 |
3 | A>T | No |
ClinGen TOPMed |
|
|
CA398487259 rs1418858964 |
3 | A>V | No |
ClinGen TOPMed |
|
|
rs1161121103 CA398487268 |
4 | A>G | No |
ClinGen TOPMed |
|
|
CA398487270 rs1161121103 |
4 | A>V | No |
ClinGen TOPMed |
|
|
rs1181320546 CA398487292 |
6 | R>L | No |
ClinGen TOPMed |
|
|
CA398487288 rs1181320546 |
6 | R>Q | No |
ClinGen TOPMed |
|
|
CA398487286 rs1251285066 |
6 | R>W | No |
ClinGen TOPMed |
|
|
CA398487299 rs1259872174 |
7 | A>V | No |
ClinGen TOPMed |
|
|
rs1353366655 CA398487362 |
12 | I>T | No |
ClinGen TOPMed |
|
|
CA398487371 rs1311454656 |
13 | V>L | No |
ClinGen TOPMed |
|
|
CA398487367 rs1311454656 |
13 | V>M | No |
ClinGen TOPMed |
|
|
rs1357044530 CA398487394 |
15 | L>S | No |
ClinGen TOPMed |
|
|
rs1357044530 CA398487395 |
15 | L>W | No |
ClinGen TOPMed |
|
|
rs1399176984 CA398487401 |
16 | E>Q | No |
ClinGen TOPMed |
|
|
rs1290592184 CA398487435 |
18 | D>E | No |
ClinGen TOPMed |
|
|
rs1367797408 CA398487448 |
20 | L>P | No |
ClinGen TOPMed |
|
|
CA398487476 rs1164240201 |
23 | V>I | No |
ClinGen TOPMed |
|
|
rs1474229096 CA398487527 |
26 | S>L | No |
ClinGen TOPMed |
|
|
rs1260138033 CA398487539 |
28 | A>T | No |
ClinGen TOPMed |
|
|
CA398487560 rs1207243409 |
29 | N>K | No |
ClinGen TOPMed |
|
|
rs1265363729 CA398487562 |
30 | G>S | No |
ClinGen TOPMed |
|
|
rs1230923343 CA398487582 |
31 | F>L | No |
ClinGen TOPMed |
|
|
rs1293549930 CA398487586 |
32 | G>R | No |
ClinGen TOPMed |
|
|
CA398487585 rs1293549930 |
32 | G>S | No |
ClinGen TOPMed |
|
|
rs1382559271 CA398487607 |
34 | G>C | No |
ClinGen TOPMed |
|
|
rs1382559271 CA398487608 |
34 | G>R | No |
ClinGen TOPMed |
|
|
rs1597758116 CA398487630 |
36 | V>G | No |
ClinGen Ensembl |
|
|
CA398487628 rs1459964073 |
36 | V>L | No |
ClinGen TOPMed |
|
|
CA398487644 rs1165714730 |
38 | T>M | No |
ClinGen TOPMed |
|
|
CA398487648 rs1371547709 |
39 | R>Q | No |
ClinGen TOPMed |
|
| VAR_079830 | 39 | R>QH | No | UniProt | |
|
rs1195865456 CA398487653 |
40 | R>C | No |
ClinGen TOPMed |
|
|
rs1195865456 CA398487652 |
40 | R>G | No |
ClinGen TOPMed |
|
|
rs1267282483 CA398487654 |
40 | R>H | No |
ClinGen TOPMed |
|
|
CA398487657 rs1212308259 |
41 | R>G | No |
ClinGen TOPMed |
|
|
CA398487660 rs1469441123 |
41 | R>M | No |
ClinGen TOPMed |
|
|
rs1273311631 CA398487663 |
41 | R>S | No |
ClinGen TOPMed |
|
|
rs527236151 VAR_079831 CA345721 |
43 | R>C | found in a patient with sporadic periodic paralysis; unknown pathological significance; decreases potassium inward and outward currents density; reduces cell surface abundance; reduces conductance; dominant negative mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
CA398487676 rs1271564357 |
43 | R>H | No |
ClinGen TOPMed |
|
|
CA398487675 rs1271564357 |
43 | R>L | No |
ClinGen TOPMed |
|
|
CA398487694 rs1330247909 |
45 | R>C | No |
ClinGen TOPMed |
|
|
rs1443068342 CA398487714 |
47 | V>I | No |
ClinGen TOPMed |
|
|
rs1443068342 CA398487715 |
47 | V>L | No |
ClinGen TOPMed |
|
|
CA398487729 rs1409450852 |
48 | K>E | No |
ClinGen TOPMed |
|
|
CA398487725 rs1409450852 |
48 | K>Q | No |
ClinGen TOPMed |
|
|
CA398487732 rs1169808729 |
48 | K>R | No |
ClinGen TOPMed |
|
|
rs1394812815 CA398487764 |
50 | N>K | No |
ClinGen TOPMed |
|
|
rs1456002891 CA398487774 |
51 | G>V | No |
ClinGen TOPMed |
|
|
CA398487793 rs1597758198 |
53 | C>Y | No |
ClinGen Ensembl |
|
|
rs1177538619 CA398487821 |
55 | I>T | No |
ClinGen TOPMed |
|
|
CA398487815 rs1254160682 |
55 | I>V | No |
ClinGen TOPMed |
|
|
CA398487831 VAR_079832 rs1435508633 |
56 | A>E | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs1195982427 CA398487849 |
58 | A>T | No |
ClinGen TOPMed |
|
|
rs1343815638 CA398487881 |
60 | M>T | No |
ClinGen TOPMed |
|
|
CA398487901 rs1236207977 |
62 | E>K | No |
ClinGen TOPMed |
|
|
CA398487931 rs1348591599 |
64 | S>T | No |
ClinGen TOPMed |
|
|
CA398487956 rs1441576827 |
66 | R>C | No |
ClinGen TOPMed |
|
|
rs1334002543 CA398487958 |
66 | R>H | No |
ClinGen TOPMed |
|
|
CA398488019 rs1172226124 |
71 | M>I | No |
ClinGen TOPMed |
|
|
CA398488011 rs1375049265 |
71 | M>V | No |
ClinGen TOPMed |
|
|
CA398488054 rs1436963865 |
74 | T>I | No |
ClinGen TOPMed |
|
|
CA398488061 rs1396215516 |
75 | C>Y | No |
ClinGen TOPMed |
|
|
rs1158448538 CA398488080 |
77 | D>N | No |
ClinGen TOPMed |
|
|
rs1468184450 CA398488108 |
79 | R>C | No |
ClinGen TOPMed |
|
|
CA398488110 rs1234155620 |
79 | R>H | No |
ClinGen TOPMed |
|
|
rs1181878136 CA398488133 |
81 | R>C | No |
ClinGen TOPMed |
|
|
rs3752036 CA289003797 |
81 | R>P | No |
ClinGen Ensembl |
|
|
rs1212765209 CA398488161 |
83 | M>T | No |
ClinGen TOPMed |
|
|
rs1352712840 CA398488227 |
88 | S>L | No |
ClinGen TOPMed |
|
|
CA398488240 rs1311219861 |
90 | A>S | No |
ClinGen TOPMed |
|
|
CA398488260 rs1597758309 |
92 | L>F | No |
ClinGen Ensembl |
|
|
CA398488282 rs1376403244 |
94 | S>P | No |
ClinGen TOPMed |
|
|
CA398488298 rs1318040109 |
95 | W>* | No |
ClinGen TOPMed |
|
|
rs1399518130 CA398488315 |
97 | L>Q | No |
ClinGen TOPMed |
|
|
rs1410789078 CA398488322 |
98 | F>L | No |
ClinGen TOPMed |
|
|
rs1158713990 CA398488331 |
98 | F>L | No |
ClinGen TOPMed |
|
|
rs1415235984 CA398488334 |
99 | G>R | No |
ClinGen TOPMed |
|
|
rs1415235984 CA398488332 |
99 | G>S | No |
ClinGen TOPMed |
|
|
CA398488343 rs1241343303 |
100 | V>I | No |
ClinGen TOPMed |
|
|
rs1213355234 CA398488373 |
102 | F>L | No |
ClinGen TOPMed |
|
|
rs1291699531 CA398488422 |
106 | A>E | No |
ClinGen TOPMed |
|
|
CA398488418 rs1334175020 |
106 | A>T | No |
ClinGen TOPMed |
|
|
rs1291699531 CA398488423 |
106 | A>V | No |
ClinGen TOPMed |
|
|
rs1429059444 CA398488427 |
107 | V>L | No |
ClinGen TOPMed |
|
|
rs1319495620 CA398488445 |
109 | H>N | No |
ClinGen TOPMed |
|
|
CA398488463 rs1391597758 |
110 | G>S | No |
ClinGen TOPMed |
|
|
rs1166424817 CA398488468 |
110 | G>V | No |
ClinGen TOPMed |
|
|
rs1597758368 CA398488474 |
111 | D>A | No |
ClinGen Ensembl |
|
|
CA398488481 rs1475357885 |
111 | D>E | No |
ClinGen TOPMed |
|
|
rs1418332524 CA398488514 |
114 | P>L | No |
ClinGen TOPMed |
|
|
rs1418332524 CA398488512 |
114 | P>R | No |
ClinGen TOPMed |
|
|
CA398488540 rs1242646486 |
117 | G>S | No |
ClinGen TOPMed |
|
|
rs1212948047 CA398488552 |
118 | H>P | No |
ClinGen TOPMed |
|
|
CA398488556 rs1271405002 |
118 | H>Q | No |
ClinGen TOPMed |
|
|
rs1212948047 CA398488553 |
118 | H>R | No |
ClinGen TOPMed |
|
|
CA398488560 rs1335818118 |
119 | G>D | No |
ClinGen TOPMed |
|
|
rs1215623523 CA398488557 |
119 | G>S | No |
ClinGen TOPMed |
|
|
rs1272479529 CA398488565 |
120 | R>C | No |
ClinGen TOPMed |
|
|
CA398488566 rs1364470312 |
120 | R>H | No |
ClinGen TOPMed |
|
|
CA398488567 rs1364470312 |
120 | R>P | No |
ClinGen TOPMed |
|
|
rs1272479529 CA398488563 |
120 | R>S | No |
ClinGen TOPMed |
|
|
rs1597758397 CA398488570 |
121 | T>P | No |
ClinGen Ensembl |
|
|
CA398488577 rs1369395713 |
122 | P>S | No |
ClinGen TOPMed |
|
|
CA398488584 rs1461502356 |
123 | C>F | No |
ClinGen TOPMed |
|
|
CA398488582 rs1327396371 |
123 | C>R | No |
ClinGen TOPMed |
|
|
CA398488625 rs1411473602 |
128 | H>Q | No |
ClinGen TOPMed |
|
|
CA398488623 rs1167807012 |
128 | H>R | No |
ClinGen TOPMed |
|
|
CA398488629 rs1452569157 |
129 | G>D | No |
ClinGen TOPMed |
|
|
rs1192751290 CA398488626 |
129 | G>S | No |
ClinGen TOPMed |
|
|
rs1254810762 CA398488641 |
131 | M>V | No |
ClinGen TOPMed |
|
|
CA398488654 rs1597758422 |
132 | A>V | No |
ClinGen Ensembl |
|
|
CA398488659 rs1597758429 |
133 | A>G | No |
ClinGen Ensembl |
|
|
rs1597758426 CA398488656 |
133 | A>P | No |
ClinGen Ensembl |
|
|
rs1597758434 CA398488662 |
134 | F>L | No |
ClinGen Ensembl |
|
|
rs1597758437 CA398488684 |
137 | S>P | No |
ClinGen Ensembl |
|
|
rs1488817167 CA398488691 |
138 | I>F | No |
ClinGen TOPMed |
|
|
CA398488698 rs1202650179 |
139 | E>K | No |
ClinGen TOPMed |
|
|
CA398488722 rs1234000412 |
142 | T>I | No |
ClinGen TOPMed |
|
|
rs1234000412 CA398488720 |
142 | T>N | No |
ClinGen TOPMed |
|
|
CA398488726 rs1306186601 |
143 | T>I | No |
ClinGen TOPMed |
|
|
rs1441020437 CA398488735 |
144 | I>M | No |
ClinGen TOPMed |
|
|
rs1295914926 CA398488736 |
145 | G>S | No |
ClinGen TOPMed |
|
|
rs1443988703 CA398488748 |
146 | Y>* | No |
ClinGen TOPMed |
|
|
rs1172856548 CA398488750 |
147 | G>R | No |
ClinGen TOPMed |
|
|
rs1432561845 CA398488764 |
149 | R>C | No |
ClinGen TOPMed |
|
|
CA398488772 rs1396830294 |
150 | C>S | No |
ClinGen TOPMed |
|
|
rs1174133434 CA398488787 |
152 | T>M | No |
ClinGen TOPMed |
|
|
CA398488815 rs1407396728 |
156 | L>P | No |
ClinGen TOPMed |
|
|
rs1175529902 CA398488827 |
158 | A>V | No |
ClinGen TOPMed |
|
|
CA398488829 rs1484861594 |
159 | V>I | No |
ClinGen TOPMed |
|
|
rs1283113229 CA398488843 |
161 | M>L | No |
ClinGen TOPMed |
|
|
rs1304307694 CA398488885 |
167 | I>V | No |
ClinGen TOPMed |
|
|
VAR_079835 rs1311839715 CA398488897 |
169 | G>R | found in a patient with hypokalemic periodic paralysis without hyperthyroidism; reduces potassium inward and outward currents density [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
rs1412729184 CA398488911 |
171 | I>V | No |
ClinGen TOPMed |
|
|
CA398488927 rs1313234597 |
173 | D>G | No |
ClinGen TOPMed |
|
|
rs1377011856 CA398488924 |
173 | D>N | No |
ClinGen TOPMed |
|
|
CA398488956 rs1453024315 |
177 | I>V | No |
ClinGen TOPMed |
|
|
rs1157092491 CA398488962 |
178 | G>S | No |
ClinGen TOPMed |
|
|
rs1420885534 CA398488978 |
180 | I>T | No |
ClinGen TOPMed |
|
|
rs1412989405 CA398489017 |
185 | A>V | No |
ClinGen TOPMed |
|
|
rs1260113814 CA398489031 |
187 | P>L | No |
ClinGen TOPMed |
|
|
CA398489026 rs1474449135 |
187 | P>T | No |
ClinGen TOPMed |
|
|
rs1259420942 CA398489051 |
190 | R>P | No |
ClinGen TOPMed |
|
|
CA398489050 rs1259420942 |
190 | R>Q | No |
ClinGen TOPMed |
|
|
rs1201375891 CA398489049 |
190 | R>W | No |
ClinGen TOPMed |
|
|
CA398489066 rs1292324632 |
192 | Q>H | No |
ClinGen TOPMed |
|
|
CA398489071 rs1356955579 |
193 | T>K | No |
ClinGen TOPMed |
|
|
CA398489073 rs1356955579 |
193 | T>M | No |
ClinGen TOPMed |
|
|
CA398489072 rs1356955579 |
193 | T>R | No |
ClinGen TOPMed |
|
|
rs1597758544 CA398489087 |
196 | F>S | No |
ClinGen Ensembl |
|
|
VAR_079836 CA345727 rs527236155 |
200 | A>P | found in a patient with sporadic periodic paralysis; unknown pathological significance; abolishes potassium inward and outward currents density; reduces cell surface abundance [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
CA398489117 rs527236155 |
200 | A>T | No |
ClinGen TOPMed |
|
|
CA398489124 CA398489123 rs1188683055 |
201 | V>L | No |
ClinGen TOPMed |
|
|
CA398489122 rs1188683055 |
201 | V>M | No |
ClinGen TOPMed |
|
|
CA398489145 rs1465715568 |
205 | R>C | No |
ClinGen TOPMed |
|
|
CA398489146 rs1465715568 |
205 | R>S | No |
ClinGen TOPMed |
|
|
rs1336583765 CA398489152 |
206 | D>Y | No |
ClinGen TOPMed |
|
|
CA398489160 rs1226441211 |
207 | G>C | No |
ClinGen TOPMed |
|
|
CA398489158 rs1226441211 |
207 | G>S | No |
ClinGen TOPMed |
|
|
CA398489174 rs1297678709 |
209 | L>F | No |
ClinGen TOPMed |
|
|
CA398489188 rs1435776313 |
211 | L>F | No |
ClinGen TOPMed |
|
|
CA398489191 rs1370139009 |
211 | L>R | No |
ClinGen TOPMed |
|
|
rs1325383342 CA398489204 |
213 | W>* | No |
ClinGen TOPMed |
|
|
CA398489212 rs1459878214 |
214 | R>C | No |
ClinGen TOPMed |
|
|
rs1393161239 CA398489213 |
214 | R>H | No |
ClinGen TOPMed |
|
|
rs1461822327 CA398489223 |
216 | G>C | No |
ClinGen TOPMed |
|
|
rs1172955114 CA398489226 |
216 | G>D | No |
ClinGen TOPMed |
|
|
rs1461822327 CA398489225 |
216 | G>S | No |
ClinGen TOPMed |
|
|
rs1191215206 CA398489235 |
217 | N>K | No |
ClinGen TOPMed |
|
|
rs1267642850 CA398489245 |
219 | R>H | No |
ClinGen TOPMed |
|
|
CA398489262 rs1252904615 |
221 | S>I | No |
ClinGen TOPMed |
|
|
rs1252904615 CA398489264 |
221 | S>N | No |
ClinGen TOPMed |
|
|
rs1347065886 CA398489283 |
223 | I>V | No |
ClinGen TOPMed |
|
|
CA398489313 rs1301084988 |
225 | E>D | No |
ClinGen TOPMed |
|
|
rs1332862601 CA398489330 |
227 | H>R | No |
ClinGen TOPMed |
|
|
rs1310314111 CA398489348 |
229 | R>C | No |
ClinGen TOPMed |
|
|
CA398489349 rs1430731986 |
229 | R>H | No |
ClinGen TOPMed |
|
|
rs1172264759 CA398489355 |
230 | A>T | No |
ClinGen TOPMed |
|
|
CA398489361 rs1478743630 |
230 | A>V | No |
ClinGen TOPMed |
|
|
rs1435785798 CA398489379 |
232 | L>F | No |
ClinGen TOPMed |
|
|
rs1252143001 CA398489390 |
233 | I>F | No |
ClinGen TOPMed |
|
|
rs1252143001 CA398489386 |
233 | I>L | No |
ClinGen TOPMed |
|
|
CA398489393 rs1485193458 |
233 | I>T | No |
ClinGen TOPMed |
|
|
rs1278139238 CA398489415 |
235 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA398489418 rs1275571057 |
236 | R>Q | No |
ClinGen TOPMed |
|
|
CA398489416 rs1345597725 |
236 | R>W | No |
ClinGen TOPMed |
|
|
CA398489422 rs1238422670 |
237 | V>I | No |
ClinGen TOPMed |
|
|
rs1310028733 CA398489441 |
239 | E>K | No |
ClinGen TOPMed |
|
|
rs1375180716 CA398489475 |
241 | G>A | No |
ClinGen TOPMed |
|
|
CA398489527 rs1403520518 |
245 | P>L | No |
ClinGen TOPMed |
|
|
rs1413743700 CA398489547 |
248 | Q>* | No |
ClinGen TOPMed |
|
|
VAR_079837 CA398489558 rs1182398045 |
249 | I>V | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs1255196091 CA398489568 |
250 | D>N | No |
ClinGen TOPMed |
|
|
rs1442997426 CA398489602 |
252 | D>N | No |
ClinGen TOPMed |
|
|
rs1204647660 CA398489647 |
254 | G>A | No |
ClinGen TOPMed |
|
|
rs1290480062 CA398489681 |
256 | D>H | No |
ClinGen TOPMed |
|
|
rs1229287163 CA398489744 |
258 | G>S | No |
ClinGen TOPMed |
|
|
CA398489812 rs1355036186 |
261 | R>C | No |
ClinGen TOPMed |
|
|
rs1291886575 CA398489816 |
261 | R>H | No |
ClinGen TOPMed |
|
|
CA398489860 rs1450551937 |
262 | I>S | No |
ClinGen TOPMed |
|
|
rs1318190847 CA398489871 |
263 | F>L | No |
ClinGen TOPMed |
|
|
CA398489959 rs1159229233 |
266 | S>L | No |
ClinGen TOPMed |
|
|
rs1183387585 CA398490011 |
270 | I>V | No |
ClinGen TOPMed |
|
|
CA398490040 rs1472973382 |
271 | L>* | No |
ClinGen TOPMed |
|
|
CA398490059 rs1241472969 |
272 | H>R | No |
ClinGen TOPMed |
|
|
rs1190891970 CA398490101 |
273 | E>D | No |
ClinGen TOPMed |
|
|
CA398490118 rs1270150359 |
274 | I>T | No |
ClinGen TOPMed |
|
|
rs1271441402 CA398490185 |
277 | A>D | No |
ClinGen TOPMed |
|
|
rs1230409832 CA398490219 |
278 | S>R | No |
ClinGen TOPMed |
|
|
CA398490242 rs1269945671 |
279 | P>L | No |
ClinGen TOPMed |
|
|
CA398490284 rs1320716221 |
281 | F>L | No |
ClinGen TOPMed |
|
|
CA398490295 rs1391858548 |
282 | G>C | No |
ClinGen TOPMed |
|
|
CA398490288 rs1391858548 |
282 | G>S | No |
ClinGen TOPMed |
|
|
rs1165919163 CA398490369 |
285 | R>P | No |
ClinGen TOPMed |
|
|
CA398490366 rs1165919163 |
285 | R>Q | No |
ClinGen TOPMed |
|
|
CA398490361 rs1418581487 |
285 | R>W | No |
ClinGen TOPMed |
|
|
rs1468051135 CA398490453 |
289 | E>Q | No |
ClinGen TOPMed |
|
|
CA398490502 rs1245231730 |
290 | T>M | No |
ClinGen TOPMed |
|
|
CA398490535 rs1272813991 |
292 | D>N | No |
ClinGen TOPMed |
|
|
rs1232962834 CA398490623 |
297 | V>I | No |
ClinGen TOPMed |
|
|
rs1294746179 CA398490706 |
301 | G>D | No |
ClinGen TOPMed |
|
|
rs1436817537 CA398490728 |
302 | M>I | No |
ClinGen TOPMed |
|
|
rs1353549380 CA398490882 |
309 | T>I | No |
ClinGen TOPMed |
|
|
rs1390734657 CA398490945 |
313 | R>C | No |
ClinGen TOPMed |
|
|
rs1390734657 CA398490943 |
313 | R>G | No |
ClinGen TOPMed |
|
|
CA398490953 rs1452464981 |
313 | R>H | No |
ClinGen TOPMed |
|
|
CA398490994 rs1192975949 |
315 | S>Y | No |
ClinGen TOPMed |
|
|
CA398491068 rs1232446131 |
318 | A>D | No |
ClinGen TOPMed |
|
|
rs1232446131 CA398491066 |
318 | A>V | No |
ClinGen TOPMed |
|
|
rs1234257402 CA398491185 |
323 | W>* | No |
ClinGen TOPMed |
|
|
CA398491173 rs1276019405 |
323 | W>R | No |
ClinGen TOPMed |
|
|
rs1310938137 CA398491206 |
324 | G>S | No |
ClinGen TOPMed |
|
|
CA398491239 rs1219302626 |
325 | H>D | No |
ClinGen TOPMed |
|
|
CA398491270 rs1372164691 |
326 | R>H | No |
ClinGen TOPMed |
|
|
rs1277358642 CA398491289 |
327 | F>S | No |
ClinGen TOPMed |
|
|
rs1370980508 CA398491361 |
330 | V>L | No |
ClinGen TOPMed |
|
|
rs1370980508 CA398491354 |
330 | V>M | No |
ClinGen TOPMed |
|
|
rs1432846409 CA398491400 |
332 | F>S | No |
ClinGen TOPMed |
|
|
CA398491414 rs1433784379 |
333 | E>K | No |
ClinGen TOPMed |
|
|
rs1180243413 CA398491456 |
334 | E>G | No |
ClinGen TOPMed |
|
|
rs1473678782 CA398491476 |
335 | K>M | No |
ClinGen TOPMed |
|
|
rs1253052522 CA398491481 |
335 | K>N | No |
ClinGen TOPMed |
|
|
rs1210599976 CA398491499 |
336 | N>K | No |
ClinGen TOPMed |
|
|
CA398491530 rs1258217617 |
338 | Y>* | No |
ClinGen TOPMed |
|
|
rs1482602506 CA398491527 |
338 | Y>F | No |
ClinGen TOPMed |
|
|
CA398491554 rs1315769173 |
340 | I>T | No |
ClinGen TOPMed |
|
|
CA398491613 rs1265659969 |
343 | S>L | No |
ClinGen TOPMed |
|
|
rs1350715383 CA398491658 |
346 | H>R | No |
ClinGen TOPMed |
|
|
rs1292517102 CA398491679 |
347 | K>R | No |
ClinGen TOPMed |
|
|
rs1303304953 CA398491803 |
355 | P>T | No |
ClinGen TOPMed |
|
|
rs1466647603 CA398491822 |
356 | R>C | No |
ClinGen TOPMed |
|
|
CA398491819 rs1466647603 |
356 | R>G | No |
ClinGen TOPMed |
|
|
rs1157008943 CA398491828 |
356 | R>H | No |
ClinGen TOPMed |
|
|
rs1459077683 CA398491851 |
358 | S>G | No |
ClinGen TOPMed |
|
|
CA398491877 rs1187689188 |
359 | A>V | No |
ClinGen TOPMed |
|
|
rs1258914356 CA398491924 |
362 | L>Q | No |
ClinGen TOPMed |
|
|
rs1485813036 CA398491971 |
365 | N>S | No |
ClinGen TOPMed |
|
|
CA398492001 rs1245729926 |
367 | F>I | No |
ClinGen TOPMed |
|
|
CA398492003 rs1245729926 |
367 | F>L | No |
ClinGen TOPMed |
|
|
CA398492055 rs1329428464 |
370 | P>S | No |
ClinGen TOPMed |
|
|
CA727081917 rs1272079173 |
371 | S>R | No |
ClinGen TOPMed |
|
|
rs1323247798 CA727081918 |
372 | A>T | No |
ClinGen TOPMed |
|
|
rs1313126508 CA727081919 |
372 | A>V | No |
ClinGen TOPMed |
|
|
CA727081923 rs1362931587 |
375 | F>L | No |
ClinGen TOPMed |
|
|
rs1318699376 CA727081925 |
376 | C>S | No |
ClinGen TOPMed |
|
|
rs1389679907 CA727081929 |
377 | Y>* | No |
ClinGen TOPMed |
|
|
rs1437284153 CA727081927 |
377 | Y>C | No |
ClinGen TOPMed |
|
|
CA398492081 rs1456553324 |
378 | E>K | No |
ClinGen TOPMed |
|
|
CA398492150 rs1165910974 |
382 | A>D | No |
ClinGen TOPMed |
|
|
rs1189952625 CA398492181 |
384 | L>R | No |
ClinGen TOPMed |
|
|
rs1464915433 CA398492199 |
385 | S>R | No |
ClinGen TOPMed |
|
|
rs1252021107 CA398492206 |
386 | R>C | No |
ClinGen TOPMed |
|
|
rs1207745076 CA398492208 |
386 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA398492258 rs1265873775 |
389 | E>K | No |
ClinGen TOPMed |
|
|
rs1226418977 CA398492319 |
392 | A>V | No |
ClinGen TOPMed |
|
|
rs1299658128 CA398492324 |
393 | D>N | No |
ClinGen TOPMed |
|
|
CA398492341 rs1365974010 CA398492343 |
394 | G>R | No |
ClinGen TOPMed |
|
|
CA398492358 rs1597759047 |
395 | D>H | No |
ClinGen Ensembl |
|
|
CA398492408 rs1597759057 |
397 | D>A | No |
ClinGen Ensembl |
|
|
CA398492397 rs1385367511 |
397 | D>H | No |
ClinGen TOPMed |
|
|
CA398492416 rs1294490957 |
398 | G>S | No |
ClinGen TOPMed |
|
|
rs527236156 CA345729 |
399 | R>* | No |
ClinGen TOPMed |
|
|
CA398492446 rs1388881941 |
400 | S>C | No |
ClinGen TOPMed |
|
|
CA398492462 rs1170984777 |
401 | R>W | No |
ClinGen TOPMed |
|
|
CA398492487 rs1196122391 |
402 | D>E | No |
ClinGen TOPMed |
|
|
rs1267531690 CA398492499 |
403 | G>D | No |
ClinGen TOPMed |
|
|
CA398492531 rs1195023918 |
405 | S>I | No |
ClinGen TOPMed |
|
|
rs1481923747 CA398492558 |
406 | P>R | No |
ClinGen TOPMed |
|
|
CA345731 rs527236157 |
407 | Q>* | No |
ClinGen TOPMed |
|
|
rs1205843415 CA398492622 |
409 | R>S | No |
ClinGen TOPMed |
|
|
CA398492637 rs1231075627 |
410 | H>Q | No |
ClinGen TOPMed |
|
|
CA398492633 rs1274407103 |
410 | H>R | No |
ClinGen TOPMed |
|
|
rs1347039217 CA398492628 |
410 | H>Y | No |
ClinGen TOPMed |
|
|
CA398492755 rs1409631865 |
419 | G>S | No |
ClinGen TOPMed |
|
|
rs1369136696 CA398492764 CA398492763 |
420 | G>R | No |
ClinGen TOPMed |
|
|
CA398492798 rs1170306202 |
425 | R>Q | No |
ClinGen TOPMed |
|
|
rs1567788348 CA398492796 |
425 | R>W | No |
ClinGen Ensembl |
|
|
CA398492804 rs1478692268 |
426 | P>H | No |
ClinGen TOPMed |
|
|
rs1180600136 CA398492812 |
427 | Y>C | No |
ClinGen TOPMed |
|
|
CA398492809 rs1377865299 |
427 | Y>D | No |
ClinGen TOPMed |
|
|
rs1471388735 CA398492822 |
429 | R>G | No |
ClinGen TOPMed |
|
|
rs1485306231 CA398492825 |
429 | R>P | No |
ClinGen TOPMed |
|
|
CA398492823 rs1471388735 |
429 | R>W | No |
ClinGen TOPMed |
|
|
rs1276344490 CA727082188 |
430 | G>E | No |
ClinGen TOPMed |
1 associated diseases with B7U540
[MIM: 613239]: Thyrotoxic periodic paralysis 2 (TTPP2)
A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. {ECO:0000269|PubMed:20074522, ECO:0000269|PubMed:21665951, ECO:0000269|PubMed:25885757, ECO:0000269|PubMed:27178871}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. {ECO:0000269|PubMed:20074522, ECO:0000269|PubMed:21665951, ECO:0000269|PubMed:25885757, ECO:0000269|PubMed:27178871}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
3 regional properties for B7U540
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| inward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an inwardly-rectifying voltage-gated channel. An inwardly rectifying current-voltage relation is one where at any given driving force the inward flow of K+ ions exceeds the outward flow for the opposite driving force. The inward-rectification is due to a voltage-dependent block of the channel pore by a specific ligand or ligands, and as a result the macroscopic conductance depends on the difference between membrane voltage and the K+ equilibrium potential rather than on membrane voltage itself. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4TZY1 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Bos taurus (Bovine) | PR |
| F1NHE9 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Gallus gallus (Chicken) | PR |
| Q14500 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Homo sapiens (Human) | PR |
| Q14654 | KCNJ11 | ATP-sensitive inward rectifier potassium channel 11 | Homo sapiens (Human) | PR |
| Q15842 | KCNJ8 | ATP-sensitive inward rectifier potassium channel 8 | Homo sapiens (Human) | PR |
| P48549 | KCNJ3 | G protein-activated inward rectifier potassium channel 1 | Homo sapiens (Human) | PR |
| P97794 | Kcnj8 | ATP-sensitive inward rectifier potassium channel 8 | Mus musculus (Mouse) | PR |
| Q8JZN3 | Kcnj14 | ATP-sensitive inward rectifier potassium channel 14 | Mus musculus (Mouse) | PR |
| P52189 | Kcnj4 | Inward rectifier potassium channel 4 | Mus musculus (Mouse) | PR |
| Q9Z307 | Kcnj16 | Inward rectifier potassium channel 16 | Mus musculus (Mouse) | PR |
| Q61743 | Kcnj11 | ATP-sensitive inward rectifier potassium channel 11 | Mus musculus (Mouse) | PR |
| P52187 | Kcnj12 | ATP-sensitive inward rectifier potassium channel 12 | Mus musculus (Mouse) | PR |
| Q63664 | Kcnj8 | ATP-sensitive inward rectifier potassium channel 8 | Rattus norvegicus (Rat) | PR |
| P70673 | Kcnj11 | ATP-sensitive inward rectifier potassium channel 11 | Rattus norvegicus (Rat) | PR |
| P52188 | Kcnj12 | ATP-sensitive inward rectifier potassium channel 12 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAASRANPY | SIVSLEEDGL | HLVTMSGANG | FGNGKVHTRR | RCRNRFVKKN | GQCNIAFANM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEKSQRYLAD | MFTTCVDIRW | RYMLLIFSLA | FLASWLLFGV | IFWVIAVAHG | DLEPAEGHGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPCVMQVHGF | MAAFLFSIET | QTTIGYGLRC | VTEECLVAVF | MVVAQSIVGC | IIDSFMIGAI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MAKMARPKKR | AQTLLFSHNA | VVALRDGKLC | LMWRVGNLRK | SHIVEAHVRA | QLIKPRVTEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GEYIPLDQID | IDVGFDKGLD | RIFLVSPITI | LHEIDEASPL | FGISRQDLET | DDFEIVVILE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GMVEATAMTT | QARSSYLANE | ILWGHRFEPV | LFEEKNQYKI | DYSHFHKTYE | VPSTPRCSAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLVENKFLLP | SANSFCYENE | LAFLSRDEED | EADGDQDGRS | RDGLSPQARH | DFDRLQAGGG |
| 430 | |||||
| VLEQRPYRRG | SEI |