B7ZAQ6
PR
Gene name |
GPR89A (GPHRA, GPR89, SH120) |
Protein name |
Golgi pH regulator A |
Names |
Protein GPR89A, Putative MAPK-activating protein PM01, Putative NF-kappa-B-activating protein 90 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:653519 |
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 B7ZAQ6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-B7ZAQ6-F1 | Predicted | AlphaFoldDB |
278 variants for B7ZAQ6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1060393 rs782540403 |
2 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342378478 rs1553685271 |
2 | S>T | No |
ClinGen gnomAD |
|
|
CA342378491 rs1232531777 |
3 | F>C | No |
ClinGen TOPMed |
|
|
rs1319716740 CA342378504 |
4 | L>F | No |
ClinGen TOPMed |
|
|
CA1060391 rs372185359 |
5 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228562311 CA342378519 |
5 | I>V | No |
ClinGen TOPMed |
|
|
CA342378543 rs1553685284 |
6 | D>N | No |
ClinGen gnomAD |
|
|
rs199540831 CA1060389 |
7 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199540831 CA342378602 |
7 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1060388 rs587680156 |
8 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342378630 rs1571449996 |
8 | S>T | No |
ClinGen Ensembl |
|
|
CA342378657 rs1460295591 |
9 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782788748 CA1060385 |
10 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587620145 CA1060386 |
10 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342378698 rs1418776146 |
11 | I>T | No |
ClinGen TOPMed |
|
|
rs1553685292 CA342378740 |
14 | Q>R | No |
ClinGen gnomAD |
|
|
rs782525155 CA1060331 |
15 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA342380475 rs782525155 |
15 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1060329 rs782563318 |
19 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342380552 rs1553686969 |
20 | F>V | No |
ClinGen gnomAD |
|
|
rs1487058424 CA342380566 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781815868 CA1060327 |
22 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342380601 rs1343996866 |
23 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782733283 CA1060326 |
26 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA342380656 rs1553686980 |
26 | M>R | No |
ClinGen gnomAD |
|
|
CA1060325 rs587596987 |
27 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1060323 rs782796237 |
27 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs587596987 CA1060324 |
27 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782165586 CA1060322 |
29 | L>F | No |
ClinGen ExAC |
|
|
CA1060321 rs781924043 |
30 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1060318 rs781972596 |
33 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29892666 rs587721174 |
33 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587721174 CA1060319 |
33 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342381378 rs1553687416 |
36 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782673642 CA1060290 |
36 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342381450 rs1460821762 |
41 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1060287 rs782603580 |
42 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs782192916 CA1060288 |
42 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA342381478 rs1261255291 |
43 | I>F | No |
ClinGen TOPMed |
|
|
rs376659454 CA1060286 |
43 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1060285 rs587729504 |
44 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782698052 CA1060280 |
46 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs587772089 CA1060281 |
46 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1060279 rs782074952 |
47 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA29893282 rs782074952 |
47 | T>M | Variant assessed as Somatic; 4.716e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1553687432 CA342381557 |
49 | A>T | No |
ClinGen gnomAD |
|
|
CA342381568 rs1559024644 |
49 | A>V | No |
ClinGen Ensembl |
|
|
rs782758265 CA1060277 |
51 | S>F | Variant assessed as Somatic; 4.694e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782128495 CA1060275 |
58 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs371662853 CA1060274 |
59 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 59 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342381736 rs1553687444 |
60 | F>L | No |
ClinGen gnomAD |
|
|
CA342381746 rs1298189419 |
61 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1060273 rs782430128 |
62 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs782045931 CA1060272 |
62 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436362775 CA342381767 |
62 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1436362775 CA342381765 |
62 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1060271 rs781941804 |
64 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA342381801 rs1335373728 |
65 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 69 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342381872 rs1470652187 |
69 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1060255 rs782083107 |
70 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1060254 rs781968379 |
71 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1060253 rs587773483 COSM895258 |
71 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA342056615 rs1553688388 |
72 | Y>S | No |
ClinGen gnomAD |
|
|
CA1060252 rs782137534 |
74 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA342056726 rs1559027668 |
77 | M>I | No |
ClinGen Ensembl |
|
|
rs782024052 CA1060250 |
78 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342056772 rs1553688396 |
80 | C>F | No |
ClinGen gnomAD |
|
|
CA342056830 rs1239157419 |
84 | L>P | No |
ClinGen TOPMed |
|
|
rs1272493429 CA342056865 |
87 | V>I | No |
ClinGen TOPMed |
|
|
CA1060245 rs782348117 |
88 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA342056892 rs1196975121 |
89 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1060244 rs587749855 |
89 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342056894 rs1196975121 |
89 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1060243 rs782637757 |
90 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA342056951 rs1279199279 |
93 | Y>D | No |
ClinGen TOPMed |
|
|
CA342056969 rs1233107282 |
94 | I>V | No |
ClinGen TOPMed |
|
|
rs1553688411 CA342056982 |
95 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286496555 CA342057005 |
96 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs587689323 CA1060242 |
99 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553688417 CA342057069 |
100 | S>N | No |
ClinGen gnomAD |
|
|
rs782455724 CA1060239 |
103 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs587615888 CA1060238 |
103 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1553688425 CA342057126 |
104 | L>P | No |
ClinGen gnomAD |
|
|
rs1379521935 CA342057215 |
105 | L>P | No |
ClinGen TOPMed |
|
|
CA1060218 rs781906165 |
108 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1060217 rs587611985 |
109 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA342057287 rs1196351804 |
109 | R>P | No |
ClinGen TOPMed |
|
|
rs1196351804 CA1060215 |
109 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781833666 CA1060213 |
112 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1060211 rs782126871 |
113 | S>F | No |
ClinGen ExAC |
|
| rs1256102621 | 113 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1060210 rs782012717 |
114 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256161387 CA342057398 |
115 | L>I | No |
ClinGen TOPMed |
|
|
rs1553688535 CA342057498 |
119 | T>A | No |
ClinGen gnomAD |
|
|
rs1571480131 CA342057558 |
121 | M>L | No |
ClinGen Ensembl |
|
|
CA342057624 rs1279823089 |
122 | Y>C | No |
ClinGen TOPMed |
|
|
rs782343564 CA1060206 |
123 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1060207 rs781931739 |
123 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA342057730 rs1553688543 |
125 | W>* | No |
ClinGen gnomAD |
|
|
CA342057718 rs1553688541 |
125 | W>R | No |
ClinGen gnomAD |
|
|
CA1060204 rs781989708 |
127 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310491291 CA342057819 |
129 | D>H | No |
ClinGen TOPMed |
|
|
CA1060202 rs782277705 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA342057916 rs1394306307 |
132 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553689728 CA342059798 |
148 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1299698507 CA342059823 |
149 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781838420 CA1060189 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342059828 rs1299698507 |
149 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA342059933 rs1162757504 |
153 | I>T | No |
ClinGen TOPMed |
|
|
CA342060059 rs1420183658 |
158 | M>I | No |
ClinGen TOPMed |
|
|
rs1459936068 CA342060018 |
158 | M>V | No |
ClinGen TOPMed |
|
|
rs1165675131 CA342060062 |
159 | A>T | No |
ClinGen TOPMed |
|
|
CA342060274 rs1418726378 |
168 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782762743 CA1060187 |
169 | C>F | No |
ClinGen ExAC |
|
|
CA342060365 rs1458528809 |
173 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs782134729 CA1060186 |
179 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342060450 rs1212434046 |
179 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342060639 rs1279236870 |
184 | T>M | No |
ClinGen TOPMed |
|
|
CA342060705 rs1379662258 |
188 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342060759 rs1332614216 |
191 | R>Q | No |
ClinGen TOPMed |
|
|
rs1440835608 CA342060772 |
192 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342060819 rs1553689887 |
195 | Q>* | No |
ClinGen Ensembl |
|
|
CA342060866 rs1324980923 |
197 | M>T | No |
ClinGen TOPMed |
|
|
rs1405495738 CA342060968 |
201 | I>M | No |
ClinGen TOPMed |
|
|
CA342060992 rs1406750395 |
203 | K>Q | No |
ClinGen TOPMed |
|
|
CA342061024 rs1156519185 |
204 | K>M | No |
ClinGen TOPMed |
|
|
rs1471034381 CA342061040 |
205 | K>R | No |
ClinGen TOPMed |
|
|
CA342062774 rs1244930854 |
208 | A>S | No |
ClinGen TOPMed |
|
|
rs1553692126 CA342062791 |
208 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342062872 rs1317063809 |
211 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342062870 rs1357068328 |
211 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1341076738 CA342062959 |
217 | K>* | No |
ClinGen TOPMed |
|
|
rs1328287543 CA342062965 |
217 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342062993 rs1553692145 |
218 | G>E | No |
ClinGen TOPMed |
|
|
CA342063002 rs1389842002 |
219 | E>Q | No |
ClinGen TOPMed |
|
|
rs1553692156 CA342063146 |
225 | S>* | No |
ClinGen gnomAD |
|
|
CA342063151 rs1372676473 |
226 | G>S | No |
ClinGen TOPMed |
|
|
rs1169510393 CA342063185 |
228 | W>R | No |
ClinGen TOPMed |
|
|
rs1553692167 CA342063217 |
229 | G>E | No |
ClinGen gnomAD |
|
|
CA342063208 rs1424407159 |
229 | G>R | No |
ClinGen TOPMed |
|
|
rs1231766328 CA342063477 |
238 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782399452 CA1060176 |
244 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs587717345 CA29776363 |
246 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs587610208 CA1060175 |
247 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782564730 CA1060174 |
251 | V>M | No |
ClinGen ExAC |
|
|
rs1553692508 CA342064805 |
253 | A>V | No |
ClinGen gnomAD |
|
|
CA342064819 rs1553692509 |
254 | L>F | No |
ClinGen gnomAD |
|
|
rs782444229 CA1060173 |
255 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553692512 CA342064826 |
255 | E>Q | No |
ClinGen gnomAD |
|
|
CA342064866 rs1553692516 |
256 | E>* | No |
ClinGen gnomAD |
|
|
rs781818973 CA1060172 |
256 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1193239416 CA342064900 |
257 | L>F | No |
ClinGen TOPMed |
|
|
CA1060171 rs782608320 |
258 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA342064932 rs1422783974 |
258 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342064961 rs1553692527 |
260 | Q>* | No |
ClinGen gnomAD |
|
|
CA342064954 rs1553692527 |
260 | Q>K | No |
ClinGen gnomAD |
|
|
CA342064992 rs1553692529 |
261 | L>I | No |
ClinGen gnomAD |
|
|
CA342064999 rs1571516264 |
261 | L>P | No |
ClinGen Ensembl |
|
|
rs1485840164 CA342065062 |
262 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1060169 rs781871943 |
264 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782797314 CA1060168 |
267 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782797314 CA29776427 |
267 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 268 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342065350 rs1344182675 |
270 | A>V | No |
ClinGen TOPMed |
|
|
rs782086159 CA1060164 |
271 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1553692718 CA342065665 |
273 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455998988 CA342065714 |
275 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342065708 rs1172293379 |
275 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1060155 rs782240338 |
278 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342065843 rs1553692722 |
279 | K>R | No |
ClinGen gnomAD |
|
|
rs1553692726 CA342065887 |
280 | T>I | No |
ClinGen gnomAD |
|
|
CA342066048 rs1426233157 |
286 | F>L | No |
ClinGen TOPMed |
|
|
CA342066109 rs1263318962 |
290 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1205423598 CA342066149 |
291 | Y>* | No |
ClinGen TOPMed |
|
|
rs1553692736 CA342066183 |
293 | F>L | No |
ClinGen gnomAD |
|
|
rs587738129 CA1060151 |
295 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1482797147 CA342066293 |
299 | W>R | No |
ClinGen TOPMed |
|
|
CA1060150 rs782461557 |
300 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342066339 rs1553692747 |
301 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571518170 CA342066361 |
302 | F>C | No |
ClinGen Ensembl |
|
|
CA342066376 rs1553692748 |
303 | M>V | No |
ClinGen gnomAD |
|
|
CA1060137 rs782385326 |
305 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1060136 rs782274342 |
306 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553695919 CA342069302 |
308 | I>V | No |
ClinGen gnomAD |
|
|
rs1439152505 CA342069324 |
309 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782032521 CA1060135 |
310 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342069385 rs1559050696 |
311 | D>E | No |
ClinGen Ensembl |
|
|
CA342069370 rs1553695921 |
311 | D>N | No |
ClinGen gnomAD |
|
|
CA1060133 rs782313035 |
312 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA29779073 rs782203291 |
312 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1060132 rs782203291 |
312 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782645925 CA1060129 |
313 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1060126 rs376147807 |
316 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1060125 rs376147807 |
316 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342069576 rs1419826924 |
321 | R>G | No |
ClinGen TOPMed |
|
|
CA1060123 rs782438630 |
322 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781909264 CA1060122 |
322 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553695954 CA342069673 |
326 | T>S | No |
ClinGen gnomAD |
|
|
rs782524314 CA1060120 |
327 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342069747 rs1171433360 |
329 | Y>F | No |
ClinGen TOPMed |
|
|
CA29779178 rs782126005 |
330 | L>V | No |
ClinGen Ensembl |
|
|
rs1425527639 CA342069827 |
333 | Q>* | No |
ClinGen TOPMed |
|
|
COSM3801667 rs782784426 CA29779601 |
336 | V>A | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782784426 CA1060094 |
336 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553696304 CA342070274 |
337 | K>E | No |
ClinGen gnomAD |
|
|
rs1571549899 CA342070318 |
338 | F>V | No |
ClinGen Ensembl |
|
|
rs1571549907 CA342070356 |
339 | W>L | No |
ClinGen Ensembl |
|
|
rs1346775644 CA342070379 |
340 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342070418 rs1553696309 |
342 | H>Y | No |
ClinGen gnomAD |
|
|
rs1418660550 CA342070429 |
343 | I>F | No |
ClinGen TOPMed |
|
|
CA1060092 rs587729511 |
352 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1424356939 CA342070655 |
353 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1189338694 CA342070737 |
357 | R>K | No |
ClinGen TOPMed |
|
|
rs1478986994 CA342070868 |
363 | L>F | No |
ClinGen TOPMed |
|
|
CA342070884 rs1553696326 |
363 | L>R | No |
ClinGen gnomAD |
|
|
rs782534619 CA1060079 |
367 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA342071288 rs1318730902 |
368 | Y>C | No |
ClinGen TOPMed |
|
|
CA342071307 rs202060570 |
369 | A>T | No |
ClinGen 1000Genomes |
|
|
rs200110171 CA342071310 |
369 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1553697108 CA342071313 |
370 | I>L | No |
ClinGen gnomAD |
|
|
rs1409142552 CA342071344 |
371 | S>C | No |
ClinGen TOPMed |
|
|
rs1553697115 CA342071370 |
372 | S>N | No |
ClinGen gnomAD |
|
|
rs781867175 CA1060078 |
375 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA342071473 rs1553697118 |
377 | N>T | No |
ClinGen gnomAD |
|
|
CA342071497 rs1553697120 |
378 | V>G | No |
ClinGen gnomAD |
|
|
CA1060077 rs782637486 |
380 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 384 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1060070 rs782175149 |
385 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA342071604 rs1553697133 |
386 | I>K | No |
ClinGen gnomAD |
|
|
CA342071617 CA342071620 rs1397368117 |
387 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1553697175 CA342071647 |
388 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553697180 CA342071707 |
393 | S>C | No |
ClinGen gnomAD |
|
|
rs199877619 CA1060048 |
394 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342071714 rs1553697183 |
394 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 395 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1060047 rs781859673 |
395 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29780524 rs782748410 |
396 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782466660 CA1060045 |
399 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA342071747 rs1207627945 |
399 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342071773 rs1553697193 |
401 | S>N | No |
ClinGen gnomAD |
|
|
CA342071785 rs1553697194 |
402 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342071820 rs1486502529 |
405 | E>A | No |
ClinGen TOPMed |
|
|
CA342071840 rs1340052063 |
407 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1060044 rs781805083 |
407 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29780545 rs781805083 |
407 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362758661 CA342071878 |
411 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 414 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283764296 CA342071949 |
418 | Q>* | No |
ClinGen TOPMed |
|
|
rs782161454 CA1060042 |
422 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342072006 rs1357718502 |
423 | H>P | No |
ClinGen TOPMed |
|
|
CA342072015 rs1313937711 |
424 | R>C | No |
ClinGen TOPMed |
|
|
CA342072072 rs1553697216 |
429 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429657059 CA342072091 |
431 | L>V | No |
ClinGen TOPMed |
|
|
CA342072116 rs1353207629 |
433 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342072117 rs1173166832 |
434 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1412473889 CA342072191 |
441 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1179730307 CA342072202 |
442 | Y>C | No |
ClinGen TOPMed |
|
|
CA342072200 rs1553697227 |
442 | Y>N | No |
ClinGen gnomAD |
|
|
CA342072209 rs1476006440 |
443 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA342072225 rs1553697234 |
444 | A>V | No |
ClinGen gnomAD |
|
|
rs1257965885 CA342072246 |
446 | K>R | No |
ClinGen TOPMed |
|
|
rs1181263080 CA342072277 |
449 | P>S | No |
ClinGen TOPMed |
|
|
rs1553697239 CA342072330 |
454 | A>S | No |
ClinGen Ensembl |
No associated diseases with B7ZAQ6
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| Golgi-associated vesicle membrane | The lipid bilayer surrounding a vesicle associated with the Golgi apparatus. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| voltage-gated anion channel activity | Enables the transmembrane transfer of an anion by a voltage-gated channel. An anion is a negatively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular pH reduction | Any process that reduces the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 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. |
| T cell differentiation | The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38799 | YHR078W | Uncharacterized protein YHR078W | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q5BIM9 | GPR89 | Golgi pH regulator | Bos taurus (Bovine) | PR |
| Q5F448 | GPR89 | Golgi pH regulator | Gallus gallus (Chicken) | PR |
| B7ZAQ6 | GPR89A | Golgi pH regulator A | Homo sapiens (Human) | PR |
| P0CG08 | GPR89B | Golgi pH regulator B | Homo sapiens (Human) | PR |
| Q8BS95 | Gpr89 | Golgi pH regulator | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSFLIDSSIM | ITSQILFFGF | GWLFFMRQLF | KDYEIRQYVV | QVIFSVTFAF | SCTMFELIIF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EILGVLNSSS | RYFHWKMNLC | VILLILVFMV | PFYIGYFIVS | NIRLLHKQRL | LFSCLLWLTF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MYFFWKLGDP | FPILSPKHGI | LSIEQLISRV | GVIGVTLMAL | LSGFGAVNCP | YTYMSYFLRN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTDTDILALE | RRLLQTMDMI | ISKKKRMAMA | RRTMFQKGEV | HNKPSGFWGM | IKSVTTSASG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SENLTLIQQE | VDALEELSRQ | LFLETADLYA | TKERIEYSKT | FKGKYFNFLG | YFFSIYCVWK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFMATINIVF | DRVGKTDPVT | RGIEITVNYL | GIQFDVKFWS | QHISFILVGI | IIVTSIRGLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ITLTKFFYAI | SSSKSSNVIV | LLLAQIMGMY | FVSSVLLIRM | SMPLEYRTII | TEVLGELQFN |
| 430 | 440 | 450 | |||
| FYHRWFDVIF | LVSALSSILF | LYLAHKQAPE | KQMAP |