P51790
Gene name |
CLCN3 |
Protein name |
H(+)/Cl(-) exchange transporter 3 |
Names |
Chloride channel protein 3, ClC-3, Chloride transporter ClC-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1182 |
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 P51790
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P51790-F1 | Predicted | AlphaFoldDB |
383 variants for P51790
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA358734888 RCV000623942 rs1553965256 |
11 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_086219 | 85 | Y>C | NEDHYBA [UniProt] | Yes | UniProt |
|
RCV002051932 VAR_086220 rs1732397227 RCV001289539 |
252 | I>T | Neurodevelopmental disorder with hypotonia and brain abnormalities NEDHYBA [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_086221 | 324 | V>A | NEDHYBA [UniProt] | Yes | UniProt |
|
CA358739536 rs1190062987 VAR_086222 |
413 | A>V | NEDHYBA; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001267240 rs1732611964 |
453 | S>I | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086223 | 453 | S>R | NEDHYBA [UniProt] | Yes | UniProt |
|
VAR_086224 RCV001195290 RCV001553775 rs1732900321 RCV001597254 |
570 | T>I | Neurodevelopmental disorder Neurodevelopmental disorder with hypotonia and brain abnormalities NEDHYBA [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_086225 | 607 | I>T | NEDHYBA [UniProt] | Yes | UniProt |
| VAR_086226 | 772 | V>A | NEDHYBA [UniProt] | Yes | UniProt |
|
rs1386616364 CA358734828 |
2 | E>D | No |
ClinGen gnomAD |
|
|
CA3138159 rs750029741 |
3 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766254279 CA3138161 |
8 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3138162 rs751440151 |
11 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs938710480 CA109929107 |
12 | Y>S | No |
ClinGen TOPMed |
|
|
rs1432870238 CA358734898 |
13 | R>G | No |
ClinGen TOPMed |
|
|
CA3138163 rs754831858 |
13 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs780940007 CA3138164 |
14 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA109929123 rs1057457298 |
14 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757213816 CA3138166 |
17 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109929134 rs916012724 |
18 | S>G | No |
ClinGen TOPMed |
|
|
rs779026941 CA3138167 |
19 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1482637391 CA358734960 |
22 | A>T | No |
ClinGen TOPMed |
|
|
CA358735019 rs1412011228 |
30 | D>H | No |
ClinGen gnomAD |
|
|
rs780368756 CA3138170 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA109929178 rs903364926 |
36 | M>T | No |
ClinGen Ensembl |
|
|
CA3138171 rs747298399 |
37 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410043115 CA358735095 |
41 | S>P | No |
ClinGen gnomAD |
|
|
CA109929213 rs748721807 |
42 | E>Q | No |
ClinGen Ensembl |
|
|
rs1347716008 CA358735112 |
43 | D>G | No |
ClinGen TOPMed |
|
|
CA3138174 rs762388847 |
45 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358735140 rs1278355728 |
47 | L>S | No |
ClinGen TOPMed |
|
|
rs769424677 CA3138175 |
49 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3138213 rs781390349 |
54 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3138214 rs201334655 |
55 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA109958407 rs201334655 |
55 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs756569255 CA3138215 |
56 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3138216 rs549590310 |
56 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109958413 rs370632344 |
59 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs1581242261 CA358735716 |
64 | S>T | No |
ClinGen Ensembl |
|
|
CA3138218 rs770557420 |
65 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1217887183 CA358735735 |
67 | S>G | No |
ClinGen TOPMed |
|
|
CA3138220 rs745483415 |
68 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138221 rs771793397 |
69 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3138223 rs760416841 |
70 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs760416841 CA3138224 |
70 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776486775 CA3138225 |
76 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761808392 CA3138226 |
79 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs761808392 CA3138227 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA109958502 rs139927169 |
82 | V>I | No |
ClinGen ESP |
|
|
CA358735889 rs1178903765 |
90 | T>I | No |
ClinGen gnomAD |
|
|
rs572011033 CA3138228 |
91 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1328602 rs767730345 CA3138230 |
95 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752979519 CA3138231 |
99 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs756479262 CA3138232 |
103 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA358735988 rs1365436406 |
104 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1022851734 CA109958559 |
104 | H>Y | No |
ClinGen TOPMed |
|
|
rs368229029 CA358736000 |
106 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3138245 COSM1566864 rs769810828 |
107 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA3138247 rs759602220 |
111 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358736419 rs1234890652 |
115 | A>P | No |
ClinGen TOPMed |
|
|
rs1315731682 CA358736423 |
115 | A>V | No |
ClinGen TOPMed |
|
|
rs1219530656 CA358736430 |
116 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1277144651 CA358736479 |
122 | L>F | No |
ClinGen TOPMed |
|
|
rs1581251098 CA358736485 |
123 | Y>F | No |
ClinGen Ensembl |
|
|
rs1190935186 CA358736501 |
125 | A>V | No |
ClinGen gnomAD |
|
|
CA109963279 rs200318516 |
139 | S>L | No |
ClinGen Ensembl |
|
|
CA3138272 rs765527443 |
141 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750938737 CA3138273 |
141 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399824324 CA358736664 |
150 | A>T | No |
ClinGen TOPMed |
|
|
CA109964153 rs1011368029 |
150 | A>V | No |
ClinGen TOPMed |
|
|
CA109964155 rs1020526305 |
151 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 152 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344678532 CA358736697 |
154 | T>I | No |
ClinGen gnomAD |
|
|
rs371498763 CA3138276 |
154 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581252557 CA358736708 |
156 | L>V | No |
ClinGen Ensembl |
|
|
CA358736724 rs1259824647 |
158 | E>G | No |
ClinGen gnomAD |
|
|
rs780765011 CA3138278 |
160 | I>V | No |
ClinGen ExAC |
|
|
CA358736762 rs1181522203 |
164 | A>T | No |
ClinGen gnomAD |
|
|
rs755931467 CA3138280 |
164 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109964194 rs74366331 |
169 | H>L | No |
ClinGen Ensembl |
|
|
rs771029683 CA3138283 |
170 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs953473166 CA109964204 |
172 | C>S | No |
ClinGen TOPMed |
|
|
rs1465317171 CA358736859 |
173 | C>Y | No |
ClinGen gnomAD |
|
|
rs774456990 CA3138284 |
175 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs61731290 CA109964232 |
180 | T>R | No |
ClinGen Ensembl |
|
|
rs1581252678 CA358736970 |
182 | E>G | No |
ClinGen Ensembl |
|
|
rs1348012857 CA358737004 |
185 | D>V | No |
ClinGen gnomAD |
|
|
CA358737051 rs1277130315 |
189 | Q>* | No |
ClinGen TOPMed |
|
|
CA3138285 rs747033096 |
189 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016259360 CA109964244 |
192 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 192 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 197 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762010145 CA3138288 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs376136772 CA3138289 |
200 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328448899 CA358737228 |
207 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774833339 CA3138310 |
212 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA358737284 rs1287533439 |
214 | Y>F | No |
ClinGen gnomAD |
|
|
rs766991448 CA3138312 |
215 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs955680174 CA109965130 |
216 | F>S | No |
ClinGen TOPMed |
|
|
CA358737303 rs1226592441 |
217 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752184994 CA3138313 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3138314 rs760259652 |
225 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3138316 rs753538599 |
230 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 231 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207853975 CA358737430 |
236 | A>T | No |
ClinGen gnomAD |
|
|
CA3138319 rs750376977 |
242 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750376977 CA358737471 |
242 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465065302 CA358737565 |
254 | R>K | No |
ClinGen TOPMed |
|
|
rs1019611361 CA109966247 |
257 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 259 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358737609 rs1218714279 |
260 | W>L | No |
ClinGen TOPMed |
|
|
CA358737633 COSM1053184 rs1349874515 |
263 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 269 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451554958 CA358737691 |
269 | L>S | No |
ClinGen TOPMed |
|
|
rs749489517 CA3138343 |
272 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358737719 rs1279402323 |
272 | A>V | No |
ClinGen gnomAD |
|
|
CA358737746 rs1212665249 |
275 | S>P | No |
ClinGen gnomAD |
|
|
CA358737926 rs772496354 |
287 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3138347 rs772496354 |
287 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560862182 CA358737949 |
289 | A>S | No |
ClinGen Ensembl |
|
|
rs775791470 CA3138348 |
289 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761314451 CA3138349 |
292 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1406868937 CA358738005 |
293 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs866188903 CA109966327 |
296 | F>L | No |
ClinGen Ensembl |
|
|
CA3138351 rs776334285 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761530088 CA3138352 |
299 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs773021475 CA3138354 |
301 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA109966373 rs920055186 |
304 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA358738197 rs1302413324 |
305 | T>K | No |
ClinGen gnomAD |
|
|
CA358738216 rs766201822 |
306 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236240878 CA358738222 COSM3428331 |
307 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA358738244 rs1338388515 |
308 | A>D | No |
ClinGen gnomAD |
|
|
CA358738238 rs1303631952 |
308 | A>T | No |
ClinGen gnomAD |
|
|
rs1214682822 CA358738882 |
317 | A>S | No |
ClinGen gnomAD |
|
|
rs1581260453 CA358738914 |
322 | V>G | No |
ClinGen Ensembl |
|
|
rs759279829 CA3138376 |
322 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA358738947 rs1445496556 |
328 | A>T | No |
ClinGen gnomAD |
|
|
CA358738960 rs1195518037 |
330 | I>V | No |
ClinGen gnomAD |
|
|
CA358738982 rs1581260464 |
333 | V>G | No |
ClinGen Ensembl |
|
|
CA358739040 rs1581262275 |
340 | V>F | No |
ClinGen Ensembl |
|
|
rs950652760 CA109969388 |
342 | Y>S | No |
ClinGen TOPMed |
|
|
rs759313953 CA3138400 |
345 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3138401 rs771855891 |
346 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1179113077 CA358739123 |
352 | S>T | No |
ClinGen gnomAD |
|
| rs1188097023 | 355 | A>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363179242 CA358739147 |
355 | A>S | No |
ClinGen gnomAD |
|
|
CA358739150 rs1451307324 |
355 | A>V | No |
ClinGen gnomAD |
|
|
CA358739152 rs1160127147 |
356 | A>S | No |
ClinGen gnomAD |
|
|
rs1385198933 CA358739156 |
356 | A>V | No |
ClinGen gnomAD |
|
|
rs1310539972 CA358739163 |
357 | L>F | No |
ClinGen gnomAD |
|
|
CA358739164 rs1376676265 |
358 | V>L | No |
ClinGen gnomAD |
|
|
rs199652837 CA3138403 |
360 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334546592 CA358739181 |
361 | F>V | No |
ClinGen gnomAD |
|
|
CA3138405 rs750560352 |
362 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs201934171 CA3138406 |
363 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1195330377 CA358739253 |
371 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358739266 COSM1201283 rs1249693885 |
373 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3138410 rs138459789 |
373 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292976144 CA358739270 |
374 | L>V | No |
ClinGen TOPMed |
|
|
CA109969459 rs990938444 |
376 | L>V | No |
ClinGen TOPMed |
|
|
rs1411112290 CA358739337 |
384 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 384 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 388 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 388 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748783063 CA358739394 |
391 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA109969490 rs375181512 |
392 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA358739412 rs1434761944 |
394 | I>T | No |
ClinGen gnomAD |
|
|
CA3138416 rs770356259 |
396 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3138417 rs778557557 |
398 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA109969507 rs199942294 |
404 | G>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 404 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264658684 CA358739479 |
405 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370640886 CA358739494 |
407 | F>S | No |
ClinGen gnomAD |
|
|
rs267600078 CA109969521 |
409 | R>S | No |
ClinGen Ensembl |
|
|
CA358739506 rs1232578431 |
409 | R>W | No |
ClinGen gnomAD |
|
|
rs745571413 CA3138418 |
410 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA358739556 rs1226755983 |
416 | R>C | No |
ClinGen gnomAD |
|
|
rs532326953 COSM1053187 CA3138420 |
416 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3138421 rs775316167 |
417 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358739566 rs1197415780 |
418 | R>H | No |
ClinGen gnomAD |
|
|
rs550251699 CA3138422 |
421 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768544158 CA3138423 |
423 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA109969612 rs1009032775 |
428 | V>I | No |
ClinGen TOPMed |
|
|
CA3138426 rs766374464 |
429 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358739656 rs1560865650 |
432 | I>V | No |
ClinGen Ensembl |
|
|
rs1427706224 CA358739666 |
433 | I>T | No |
ClinGen gnomAD |
|
|
CA3138427 rs202171550 |
434 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1171946572 CA358739675 |
435 | A>P | No |
ClinGen gnomAD |
|
|
rs201222028 CA3138428 |
435 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439120361 CA358739679 |
436 | A>T | No |
ClinGen gnomAD |
|
|
rs200247470 CA109969619 |
437 | I>V | No |
ClinGen 1000Genomes |
|
|
CA3138429 rs767961312 |
439 | A>G | No |
ClinGen ExAC |
|
|
rs756569280 CA3138431 |
441 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381933577 CA358739736 |
445 | N>D | No |
ClinGen gnomAD |
|
|
CA358739743 rs1395544199 |
446 | P>A | No |
ClinGen TOPMed |
|
|
rs1560865745 CA358739758 |
448 | T>S | No |
ClinGen Ensembl |
|
|
CA3138432 rs201828746 |
450 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA109969700 rs201059509 |
453 | S>G | No |
ClinGen 1000Genomes |
|
|
rs1211568889 CA358739803 |
455 | L>Q | No |
ClinGen gnomAD |
|
|
rs375092988 CA3138436 |
455 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745499710 CA3138437 |
456 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358739813 rs1488685516 |
457 | K>E | No |
ClinGen gnomAD |
|
|
CA3138438 rs771755603 |
459 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA358739832 rs1259256487 |
459 | L>R | No |
ClinGen gnomAD |
|
|
rs1429730307 CA358739863 |
464 | G>S | No |
ClinGen gnomAD |
|
|
rs1382303808 CA358739872 |
465 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA358739871 rs1170820199 |
465 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358739919 rs1167546531 |
472 | C>W | No |
ClinGen gnomAD |
|
|
CA3138441 rs535022367 |
476 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358739952 rs1177334780 |
477 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 480 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138442 rs776565829 |
481 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3138443 rs748101747 |
481 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1400661836 CA358739992 |
482 | K>R | No |
ClinGen gnomAD |
|
|
CA358739999 rs1292805255 |
483 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138444 rs771031315 |
484 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1322046061 CA358740007 |
485 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 486 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138446 rs139779279 |
487 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA109969756 rs143120417 |
490 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA3138447 rs553052405 |
490 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358740046 rs553052405 |
490 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482475586 CA358740063 |
493 | G>D | No |
ClinGen TOPMed |
|
|
rs761049815 CA3138449 |
494 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3138450 rs764429156 |
494 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 495 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 497 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138451 rs754354048 |
498 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3138453 rs764776707 |
500 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA358740114 rs1418824643 |
500 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs764776707 CA3138454 |
500 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157430574 CA358740148 |
502 | Q>L | No |
ClinGen gnomAD |
|
|
rs1034994754 CA109969866 |
506 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 506 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146667280 CA3138455 |
508 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779627892 CA358740251 |
511 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581263269 CA358740265 |
512 | I>V | No |
ClinGen Ensembl |
|
|
rs746670020 CA3138457 |
513 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3138458 rs754799105 |
515 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1392984486 CA358740340 |
516 | F>L | No |
ClinGen TOPMed |
|
|
CA3138459 rs568458140 |
518 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358737755 rs1425661952 |
522 | V>I | No |
ClinGen gnomAD |
|
|
rs776936947 CA3138495 |
533 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3138494 rs768722953 |
533 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3138496 rs762030200 |
535 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358738109 rs1192720795 |
536 | I>T | No |
ClinGen TOPMed |
|
|
CA358738119 rs1279604221 |
537 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM3674134 rs1237224362 CA358738147 |
538 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1198836526 CA358738227 |
541 | V>A | No |
ClinGen TOPMed |
|
|
rs934370424 CA109933884 |
543 | I>F | No |
ClinGen TOPMed |
|
|
rs773704301 CA3138498 |
544 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751111899 CA3138501 |
545 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA358738357 rs1210845188 |
548 | L>V | No |
ClinGen gnomAD |
|
|
CA358738385 rs1313353344 |
550 | Y>F | No |
ClinGen TOPMed |
|
|
CA3138502 rs759105108 |
550 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs767015898 CA3138503 |
551 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1218902825 CA358738414 |
552 | H>R | No |
ClinGen gnomAD |
|
|
CA358738432 rs1474916420 |
553 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755852057 CA3138505 |
554 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 560 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163576029 CA358738694 |
572 | G>V | No |
ClinGen gnomAD |
|
|
rs1299648664 CA358738739 |
576 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs561414549 CA109933987 |
578 | G>S | No |
ClinGen 1000Genomes |
|
|
rs367548875 CA3138509 |
579 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143673320 CA3138510 |
580 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA109936027 rs973376827 |
584 | G>D | No |
ClinGen TOPMed |
|
|
CA109936028 rs1005836702 |
585 | G>S | No |
ClinGen Ensembl |
|
|
CA358740393 rs1368319618 |
590 | T>A | No |
ClinGen TOPMed |
|
|
rs1324651173 CA358740402 |
590 | T>S | No |
ClinGen TOPMed |
|
|
rs149080175 CA3138532 |
595 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358740646 rs1394924170 |
611 | M>T | No |
ClinGen gnomAD |
|
|
CA3138537 rs746440784 |
612 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3138538 rs746440784 |
612 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581275755 CA358740674 |
613 | A>G | No |
ClinGen Ensembl |
|
|
rs1172967866 CA358740719 |
616 | T>I | No |
ClinGen TOPMed |
|
|
CA358740781 rs1581275786 |
620 | V>G | No |
ClinGen Ensembl |
|
|
CA358740810 rs1439069322 |
623 | A>T | No |
ClinGen gnomAD |
|
|
rs1303661798 CA358740842 |
625 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA358740846 rs1303661798 |
625 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1581275820 CA358740870 |
627 | E>G | No |
ClinGen Ensembl |
|
|
CA3138540 rs760290940 |
633 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3138541 rs143157406 |
634 | I>V | No |
ClinGen ESP ExAC |
|
|
COSM171326 CA109936112 rs763040164 |
635 | R>Q | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1200318733 CA358741047 |
644 | A>T | No |
ClinGen gnomAD |
|
|
CA358741088 rs750318734 |
646 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 647 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358741096 rs1189153280 COSM1053192 |
647 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs949049347 CA109936142 |
649 | T>S | No |
ClinGen TOPMed |
|
|
rs1480268486 CA358741138 |
650 | H>P | No |
ClinGen TOPMed |
|
|
rs1433300940 CA358741135 |
650 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA358741167 rs1581275975 |
652 | T>P | No |
ClinGen Ensembl |
|
|
CA3138547 rs199772997 |
653 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544550257 CA109936170 |
654 | A>S | No |
ClinGen 1000Genomes |
|
|
rs1422129392 CA358741197 |
655 | A>T | No |
ClinGen gnomAD |
|
|
rs1467583867 CA358741204 |
655 | A>V | No |
ClinGen gnomAD |
|
|
CA3138549 rs751365665 |
657 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269700482 CA358741241 |
658 | M>T | No |
ClinGen gnomAD |
|
|
rs1053599827 CA109936180 |
660 | P>L | No |
ClinGen TOPMed |
|
|
rs981035966 CA109936185 |
661 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 662 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138550 rs777901937 |
663 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs893619654 CA109936188 |
664 | D>G | No |
ClinGen TOPMed |
|
|
rs749575147 CA3138551 |
665 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3138552 rs757600494 |
666 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA109936227 rs113417368 |
669 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 672 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746329223 CA3138554 |
673 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358741374 rs1338340614 |
674 | N>H | No |
ClinGen gnomAD |
|
|
rs756899030 CA3138555 |
675 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1020872770 CA109936254 |
675 | M>V | No |
ClinGen TOPMed |
|
|
CA358741464 rs1267750566 |
680 | I>V | No |
ClinGen gnomAD |
|
|
CA109936272 rs369710099 |
683 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746462649 CA3138557 |
685 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1197219101 CA358741550 |
685 | N>K | No |
ClinGen gnomAD |
|
|
CA109936289 rs866989531 |
687 | T>N | No |
ClinGen Ensembl |
|
|
CA3138558 rs768288344 |
688 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA358741721 rs1174554979 |
698 | K>E | No |
ClinGen TOPMed |
|
|
CA109936302 rs576336377 |
698 | K>R | No |
ClinGen Ensembl |
|
|
rs776419289 CA3138559 |
699 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 708 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211249183 CA358741807 |
709 | R>G | No |
ClinGen Ensembl |
|
|
rs1362205071 CA358741809 |
709 | R>K | No |
ClinGen TOPMed |
|
|
rs1379685332 CA358742159 |
717 | E>D | No |
ClinGen gnomAD |
|
|
rs1445735089 CA358742162 |
718 | S>G | No |
ClinGen gnomAD |
|
|
CA358742185 rs1355347360 |
721 | K>R | No |
ClinGen gnomAD |
|
|
CA358742194 rs1240256113 |
722 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 723 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358742213 rs1278905593 |
725 | G>S | No |
ClinGen gnomAD |
|
|
CA3138588 rs761819807 |
726 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3138587 rs753874205 |
726 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA109940326 rs971407708 |
727 | V>A | No |
ClinGen Ensembl |
|
|
CA3138590 rs145822355 |
727 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1177114072 CA358742234 |
729 | S>G | No |
ClinGen gnomAD |
|
|
CA3138591 rs758786674 |
731 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758786674 CA358742250 |
731 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA109940345 rs758786674 |
731 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358742264 rs1239714545 |
733 | C>W | No |
ClinGen TOPMed |
|
|
rs927567749 CA109940347 |
735 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 737 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3138595 rs147028755 |
738 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358742304 rs1464928963 |
739 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1359632160 CA358742301 |
739 | P>S | No |
ClinGen gnomAD |
|
|
CA109940363 rs901491111 |
740 | S>P | No |
ClinGen TOPMed |
|
|
CA3138597 rs769203426 |
741 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358742385 rs1447149355 |
747 | R>Q | No |
ClinGen gnomAD |
|
|
CA358742406 rs1581286514 |
748 | P>Q | No |
ClinGen Ensembl |
|
|
CA3138598 rs201904904 |
752 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358742457 rs1409025280 |
752 | R>Q | No |
ClinGen Ensembl |
|
|
rs767634480 CA109940385 |
758 | S>R | No |
ClinGen Ensembl |
|
|
CA358742609 rs1241421595 |
761 | T>A | No |
ClinGen TOPMed |
|
|
CA358742644 rs1220421279 |
763 | T>I | No |
ClinGen gnomAD |
|
|
RCV000417121 rs770732784 CA3138600 |
768 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1458487009 CA358742812 |
771 | V>M | No |
ClinGen gnomAD |
|
|
CA358742853 rs1193297569 |
773 | D>N | No |
ClinGen gnomAD |
|
|
CA3138602 rs759355995 |
775 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA358742944 rs1479067247 |
776 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA358743076 rs1418525094 |
782 | Q>R | No |
ClinGen gnomAD |
|
|
CA3138606 rs765303593 |
788 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199740610 CA109944529 |
790 | R>C | No |
ClinGen gnomAD |
|
|
CA358746808 rs771142045 |
790 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771142045 CA3138648 |
790 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs955867200 CA109944533 |
800 | I>T | No |
ClinGen Ensembl |
|
|
rs370753183 CA3138650 |
800 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772530201 CA3138652 |
802 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372151295 CA3138655 |
807 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358747397 rs1415421656 |
808 | A>S | No |
ClinGen gnomAD |
|
|
rs761305953 CA3138657 |
812 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs556864442 CA3138659 |
813 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201683703 CA3138660 |
815 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1231114163 CA358747678 |
816 | M>V | No |
ClinGen gnomAD |
2 associated diseases with P51790
[MIM: 619512]: Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA)
An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619517]: Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA)
An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P51790
Functions
30 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| inhibitory synapse | A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell. |
| 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
| secretory granule | A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
| specific granule | Granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| vesicle membrane | The lipid bilayer surrounding any membrane-bounded vesicle in the cell. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| antiporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| solute:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: solute(out) + H+(in) = solute(in) + H+(out). |
| voltage-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| volume-sensitive chloride channel activity | Enables the transmembrane transfer of a chloride ion by a volume-sensitive channel. A volume-sensitive channel is a channel that responds to changes in the volume of a cell. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| adult locomotory behavior | Locomotory behavior in a fully developed and mature organism. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| endosomal lumen acidification | Any process that reduces the pH of the endosomal lumen, measured by the concentration of the hydrogen ion. |
| negative regulation of cell volume | Any process that decreases cell volume. |
| phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| positive regulation of reactive oxygen species biosynthetic process | Any process that activates or increases the frequency, rate or extent of reactive oxygen species biosynthetic process. |
| regulation of pH | Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. |
| synaptic transmission, GABAergic | The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| synaptic transmission, glutamatergic | The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| synaptic vesicle lumen acidification | The acidification of the synaptic vesicle lumen via transport of protons into the vesicle. The resulting electrochemical gradient powers neurotransmitter loading. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P37020 | GEF1 | Anion/proton exchange transporter GEF1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P51797 | CLCN6 | H(+)/Cl(-) exchange transporter 6 | Homo sapiens (Human) | PR |
| P51798 | CLCN7 | H(+)/Cl(-) exchange transporter 7 | Homo sapiens (Human) | PR |
| O70496 | Clcn7 | H(+)/Cl(-) exchange transporter 7 | Mus musculus (Mouse) | PR |
| Q61418 | Clcn4 | H(+)/Cl(-) exchange transporter 4 | Mus musculus (Mouse) | PR |
| P51791 | Clcn3 | H(+)/Cl(-) exchange transporter 3 | Mus musculus (Mouse) | PR |
| P51799 | Clcn7 | H(+)/Cl(-) exchange transporter 7 | Rattus norvegicus (Rat) | PR |
| P51792 | Clcn3 | H(+)/Cl(-) exchange transporter 3 | Rattus norvegicus (Rat) | PR |
| P60300 | CLC-G | Putative chloride channel-like protein CLC-g | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESEQLFHRG | YYRNSYNSIT | SASSDEELLD | GAGVIMDFQT | SEDDNLLDGD | TAVGTHYTMT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGGSINSSTH | LLDLLDEPIP | GVGTYDDFHT | IDWVREKCKD | RERHRRINSK | KKESAWEMTK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLYDAWSGWL | VVTLTGLASG | ALAGLIDIAA | DWMTDLKEGI | CLSALWYNHE | QCCWGSNETT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FEERDKCPQW | KTWAELIIGQ | AEGPGSYIMN | YIMYIFWALS | FAFLAVSLVK | VFAPYACGSG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IPEIKTILSG | FIIRGYLGKW | TLMIKTITLV | LAVASGLSLG | KEGPLVHVAC | CCGNIFSYLF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PKYSTNEAKK | REVLSAASAA | GVSVAFGAPI | GGVLFSLEEV | SYYFPLKTLW | RSFFAALVAA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FVLRSINPFG | NSRLVLFYVE | YHTPWYLFEL | FPFILLGVFG | GLWGAFFIRA | NIAWCRRRKS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TKFGKYPVLE | VIIVAAITAV | IAFPNPYTRL | NTSELIKELF | TDCGPLESSS | LCDYRNDMNA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SKIVDDIPDR | PAGIGVYSAI | WQLCLALIFK | IIMTVFTFGI | KVPSGLFIPS | MAIGAIAGRI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VGIAVEQLAY | YHHDWFIFKE | WCEVGADCIT | PGLYAMVGAA | ACLGGVTRMT | VSLVVIVFEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TGGLEYIVPL | MAAVMTSKWV | GDAFGREGIY | EAHIRLNGYP | FLDAKEEFTH | TTLAADVMRP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RRNDPPLAVL | TQDNMTVDDI | ENMINETSYN | GFPVIMSKES | QRLVGFALRR | DLTIAIESAR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KKQEGIVGSS | RVCFAQHTPS | LPAESPRPLK | LRSILDMSPF | TVTDHTPMEI | VVDIFRKLGL |
| 790 | 800 | 810 | |||
| RQCLVTHNGR | LLGIITKKDI | LRHMAQTANQ | DPASIMFN |