Q9UJZ1
Gene name |
STOML2 (SLP2, HSPC108) |
Protein name |
Stomatin-like protein 2, mitochondrial |
Names |
SLP-2, EPB72-like protein 2, Paraprotein target 7, Paratarg-7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:30968 |
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 Q9UJZ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UJZ1-F1 | Predicted | AlphaFoldDB |
231 variants for Q9UJZ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs369859096 CA373337598 |
2 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1370037540 CA373337594 |
2 | L>P | No |
ClinGen gnomAD |
|
|
CA192725950 rs369859096 |
2 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752036887 CA5041376 |
3 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs553229212 CA192725941 |
3 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5041377 rs553229212 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750689070 CA5041373 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192725907 rs894735369 |
6 | A>G | No |
ClinGen TOPMed |
|
|
rs1207768511 CA373337548 |
6 | A>T | No |
ClinGen gnomAD |
|
|
CA5041372 rs765510581 |
7 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1564009325 CA373337532 |
7 | R>W | No |
ClinGen Ensembl |
|
|
rs1245944656 CA373337519 |
8 | G>C | No |
ClinGen gnomAD |
|
|
CA5041371 rs761928176 |
8 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1245944656 CA373337522 |
8 | G>S | No |
ClinGen gnomAD |
|
|
rs764054190 CA5041369 |
9 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1322962385 CA373337489 |
10 | G>A | No |
ClinGen gnomAD |
|
|
rs1366111450 CA373337494 |
10 | G>R | No |
ClinGen gnomAD |
|
|
rs1322962385 CA373337487 |
10 | G>V | No |
ClinGen gnomAD |
|
|
CA5041367 rs775593796 |
11 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs951174460 CA192725853 |
11 | A>V | No |
ClinGen gnomAD |
|
|
CA373337444 rs1265525934 |
14 | L>R | No |
ClinGen gnomAD |
|
|
rs772065647 CA5041366 |
15 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5041340 rs776107111 |
17 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373337222 rs1393179255 |
20 | A>S | No |
ClinGen TOPMed |
|
|
CA5041337 rs779388359 |
21 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5041336 rs757587298 |
22 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA373337154 rs1332129334 |
23 | R>C | No |
ClinGen gnomAD |
|
|
rs1416031553 CA373337144 |
23 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5041333 rs778151483 |
24 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA373337133 rs749627477 |
24 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5041334 rs749627477 |
24 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5041332 rs756389373 |
27 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756389373 CA373336998 |
27 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373336970 rs1294294803 |
28 | A>V | No |
ClinGen TOPMed |
|
|
CA192725512 rs71521253 |
29 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 34 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145420701 CA5041331 |
34 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237198318 CA373336743 |
36 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373336715 rs1263884907 |
37 | V>A | No |
ClinGen gnomAD |
|
|
CA373336728 rs1444623790 |
37 | V>M | No |
ClinGen gnomAD |
|
|
rs762661515 CA5041326 |
40 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478062823 CA373336580 |
41 | V>L | No |
ClinGen gnomAD |
|
|
rs1282205878 CA373336530 |
42 | P>R | No |
ClinGen gnomAD |
|
|
CA373336539 rs1564009051 |
42 | P>S | No |
ClinGen Ensembl |
|
|
rs1450193620 CA373336496 |
43 | Q>H | No |
ClinGen gnomAD |
|
|
rs1436015727 CA373336400 |
47 | W>R | No |
ClinGen TOPMed |
|
|
rs747531882 CA192725467 |
49 | V>A | No |
ClinGen Ensembl |
|
|
rs910094247 CA192725466 |
51 | R>G | No |
ClinGen Ensembl |
|
|
CA373336270 rs983811316 |
51 | R>P | No |
ClinGen gnomAD |
|
|
CA192725453 rs983811316 |
51 | R>Q | No |
ClinGen gnomAD |
|
|
CA192725452 rs951118441 |
53 | G>S | No |
ClinGen Ensembl |
|
|
rs1455212823 CA373336185 |
55 | F>C | No |
ClinGen gnomAD |
|
|
CA5041322 rs761452134 |
57 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA373336155 rs1159451078 |
57 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA192725433 rs1025427751 |
58 | I>V | No |
ClinGen Ensembl |
|
|
CA373336092 rs1258028440 |
60 | E>K | No |
ClinGen TOPMed |
|
|
CA192725040 rs1005042027 |
62 | G>S | No |
ClinGen TOPMed |
|
|
CA5041302 rs763766258 |
65 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs760111495 CA5041301 |
68 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1226169851 CA373335655 |
68 | P>S | No |
ClinGen gnomAD |
|
|
CA373335581 rs1295721462 |
71 | D>N | No |
ClinGen gnomAD |
|
|
rs763483882 CA5041298 |
72 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 73 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5041297 rs773757788 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366649135 CA373335510 |
74 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373335498 rs1168336946 |
75 | Y>H | No |
ClinGen gnomAD |
|
|
CA192724956 rs368615584 |
78 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs1428434116 CA373335370 |
79 | L>F | No |
ClinGen gnomAD |
|
|
rs1415149829 CA373335284 |
82 | I>S | No |
ClinGen TOPMed |
|
|
CA373335300 rs1392606736 |
82 | I>V | No |
ClinGen gnomAD |
|
|
CA373335243 rs1564008625 |
84 | I>F | No |
ClinGen Ensembl |
|
|
CA5041294 rs781568932 |
86 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373335130 rs1490571305 |
88 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768863648 CA5041293 |
89 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs374236012 CA373335006 |
90 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374236012 CA5041292 |
90 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs374236012 CA373335001 |
90 | S>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371826848 CA192724918 |
94 | L>P | No |
ClinGen ESP TOPMed |
|
|
rs1274513770 CA373334917 |
94 | L>V | No |
ClinGen TOPMed |
|
|
rs750341682 CA5041289 |
95 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768827289 CA5041275 |
101 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041272 rs772218681 |
102 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5041273 rs775482860 |
102 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396009855 CA373334516 |
106 | Y>H | No |
ClinGen gnomAD |
|
|
CA373334485 rs1484990298 |
107 | L>Q | No |
ClinGen TOPMed |
|
|
CA5041271 rs745910436 |
108 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041270 COSM1674470 rs11548407 |
112 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA373334281 rs1157221791 |
114 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749144448 CA5041268 |
114 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA373333955 rs1323148887 |
118 | G>D | No |
ClinGen gnomAD |
|
|
COSM170968 CA5041244 rs764083315 |
118 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1367283690 CA373333922 |
119 | V>L | No |
ClinGen gnomAD |
|
|
CA373333860 rs1256115638 |
121 | D>N | No |
ClinGen TOPMed |
|
|
CA373333832 rs1303515067 |
122 | P>L | No |
ClinGen gnomAD |
|
|
CA192724545 rs780464977 |
122 | P>S | No |
ClinGen Ensembl |
|
|
CA5041238 rs767788822 |
126 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
VAR_026830 CA192724517 rs17856326 |
129 | L>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs769559265 CA5041232 |
139 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748033074 CA5041231 |
140 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041230 rs201404939 |
141 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768464398 CA5041229 |
141 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs201404939 CA373333516 |
141 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5041228 rs775594555 |
142 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202603054 CA373333506 |
142 | S>P | No |
ClinGen gnomAD |
|
|
rs775594555 CA373333498 |
142 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1564008198 | 143 | L>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373333474 rs1471468153 |
144 | D>G | No |
ClinGen TOPMed |
|
|
rs749838828 CA5041225 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041226 rs200523791 |
148 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373333312 rs1332061709 |
150 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5041213 rs761625496 |
150 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5041211 rs768596460 |
151 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5041212 rs776617508 |
151 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373333276 rs1451952562 |
152 | S>C | No |
ClinGen gnomAD |
|
|
rs1406306765 CA373333227 |
155 | A>V | No |
ClinGen gnomAD |
|
|
CA373333222 rs1587190983 |
156 | S>G | No |
ClinGen Ensembl |
|
|
rs1470694254 CA373333217 |
156 | S>N | No |
ClinGen gnomAD |
|
|
CA192724206 rs994783784 COSM1674469 |
157 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1182224075 CA373333187 |
158 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373333193 rs1237435309 |
158 | V>M | No |
ClinGen gnomAD |
|
|
CA373333162 rs1564008076 |
160 | A>S | No |
ClinGen Ensembl |
|
|
rs1587190926 CA373333123 |
162 | N>T | No |
ClinGen Ensembl |
|
|
rs1388887300 CA373333094 |
163 | Q>H | No |
ClinGen TOPMed |
|
|
rs763851657 CA192724205 |
163 | Q>K | No |
ClinGen Ensembl |
|
|
CA5041207 rs745445672 |
166 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5041205 rs756688976 |
169 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM273312 rs753222022 CA5041204 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781632715 CA5041203 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5041201 rs751862270 |
173 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1313882943 CA373332846 COSM1108609 |
174 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA373332844 rs1377638110 |
174 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1382962039 CA373332773 |
177 | I>N | No |
ClinGen gnomAD |
|
|
CA373332684 rs1333716602 |
181 | H>Y | No |
ClinGen TOPMed |
|
|
CA373332589 rs1346632260 |
185 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1057412414 CA192724117 |
185 | R>Q | No |
ClinGen Ensembl |
|
|
rs1346632260 CA373332586 |
185 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5041197 rs750556216 |
188 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446958099 COSM1108608 CA373332418 |
192 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs937866355 CA192724090 |
192 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373332234 rs1273850773 |
194 | V>G | No |
ClinGen gnomAD |
|
|
rs1564007895 CA373332161 |
197 | E>Q | No |
ClinGen Ensembl |
|
|
CA373332138 rs1462012633 |
198 | R>Q | No |
ClinGen TOPMed |
|
|
rs985870303 CA192723812 |
198 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs138647485 CA5041175 |
199 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192723811 rs138647485 |
199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5041176 rs376565687 |
199 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373332029 rs1407171605 |
201 | R>Q | No |
ClinGen gnomAD |
|
|
CA5041174 rs144686869 |
201 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5041173 rs753914419 |
202 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs764188592 CA5041172 |
203 | T>I | No |
ClinGen ExAC |
|
|
rs1356404935 CA373331788 |
209 | G>E | No |
ClinGen gnomAD |
|
|
CA5041170 rs527475475 |
213 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373331657 rs142495898 |
215 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1327985691 CA373331668 |
215 | I>N | No |
ClinGen TOPMed |
|
|
CA373331670 rs1326028757 |
215 | I>V | No |
ClinGen gnomAD |
|
|
rs770556916 CA5041167 |
216 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770556916 CA5041166 |
216 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373331564 rs1194065746 COSM1227907 |
220 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 224 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5041164 rs772703192 |
225 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
rs1035876812 CA192723783 |
225 | Q>R | No |
ClinGen Ensembl |
|
|
CA5041163 rs370992440 |
228 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373331356 COSM1108606 rs1320732098 |
230 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5041160 rs758721676 |
234 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041161 rs758721676 |
234 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373330384 rs1223674773 |
235 | E>K | No |
ClinGen gnomAD |
|
|
CA373330356 rs1306717766 |
236 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475635497 CA373330247 |
241 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769316607 CA5041145 |
247 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs761273149 CA5041144 |
248 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377443648 CA192723632 |
249 | A>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs772575616 CA5041142 |
250 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1171167508 CA373329963 |
250 | K>N | No |
ClinGen TOPMed |
|
|
rs1053304196 CA192723612 |
252 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1390739688 CA373329927 |
252 | K>R | No |
ClinGen TOPMed |
|
|
CA373329851 rs1455162008 |
255 | A>V | No |
ClinGen gnomAD |
|
|
rs201944176 COSM277510 CA5041139 |
259 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA373329682 rs1376408227 |
264 | A>S | No |
ClinGen TOPMed |
|
|
rs1564007621 CA373329636 |
266 | T>I | No |
ClinGen Ensembl |
|
|
rs752761742 CA5041136 |
268 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs781046341 CA5041134 |
268 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA5041135 rs752761742 |
268 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA192723233 rs901606189 |
272 | A>G | No |
ClinGen gnomAD |
|
|
CA373329330 rs1333943331 |
272 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs901606189 CA373329321 |
272 | A>V | No |
ClinGen gnomAD |
|
|
CA373329201 rs1470743758 |
280 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs36064663 CA5041087 |
283 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173491392 CA373329111 |
284 | S>G | No |
ClinGen gnomAD |
|
|
rs1223657497 CA373329059 |
285 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752235609 CA5041085 |
285 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373328865 rs1263950434 |
292 | D>E | No |
ClinGen gnomAD |
|
|
rs930593352 CA192723179 |
292 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs930593352 CA373328877 |
292 | D>Y | No |
ClinGen gnomAD |
|
|
CA5041080 rs762017957 |
294 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442826006 CA373328778 |
296 | I>V | No |
ClinGen gnomAD |
|
|
rs1479971283 CA373328711 |
299 | P>S | No |
ClinGen TOPMed |
|
|
CA5041079 rs776942973 |
301 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs531481768 CA5041078 |
302 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs919137231 CA192723143 |
303 | G>A | No |
ClinGen TOPMed |
|
|
rs775514731 CA5041076 |
304 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552229756 CA5041074 |
305 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1248932914 CA373328507 |
309 | V>M | No |
ClinGen gnomAD |
|
|
CA373328497 rs185345893 |
310 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5041073 rs185345893 |
310 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373328490 rs1407636521 |
310 | A>V | No |
ClinGen TOPMed |
|
|
CA5041058 rs772150100 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774372458 CA5041056 |
318 | A>V | No |
ClinGen ExAC |
|
|
rs368708176 CA5041052 |
323 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5041053 rs368708176 |
323 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747817459 CA5041051 |
325 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1276517125 CA373328140 |
329 | D>Y | No |
ClinGen gnomAD |
|
|
CA5041050 rs756945705 |
330 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041049 rs754567463 |
331 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs148822028 CA5041048 |
331 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373328051 rs1375509536 |
333 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779522338 CA5041047 |
333 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350586867 CA373327931 |
338 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5041045 rs754293010 |
339 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764351078 CA5041044 |
341 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1466885292 CA373327859 |
342 | T>A | No |
ClinGen gnomAD |
|
|
CA192722562 rs552266845 |
347 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs977632254 CA192722556 |
350 | L>F | No |
ClinGen Ensembl |
|
|
CA373327639 rs1480026526 |
352 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM170353 CA5041041 rs767682475 |
352 | R>Q | large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759666265 CA5041040 |
354 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5041039 rs192027986 |
355 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9UJZ1
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| extrinsic component of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cardiolipin binding | Binding to cardiolipin. |
| GTPase binding | Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| CD4-positive, alpha-beta T cell activation | The change in morphology and behavior of a CD4-positive, alpha-beta T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| lipid localization | Any process in which a lipid is transported to, or maintained in, a specific location. |
| mitochondrial calcium ion transmembrane transport | The process in which a calcium ion (Ca2+) is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| mitochondrial protein processing | The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. |
| mitochondrion organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. |
| positive regulation of cardiolipin metabolic process | Any process that activates or increases the frequency, rate or extent of cardiolipin metabolic process. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of mitochondrial DNA replication | Any process that increases the rate, frequency or extent of the process in which new strands of DNA are synthesized in the mitochondrion. |
| positive regulation of mitochondrial membrane potential | Any process that activates or increases the frequency, rate or extent of establishment or extent of a mitochondrial membrane potential, the electric potential existing across any mitochondrial membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| protein complex oligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| proton motive force-driven mitochondrial ATP synthesis | The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. |
| stress-induced mitochondrial fusion | Merging of two or more mitochondria within a cell to form a single compartment, as a result of a disturbance in cellular homeostasis. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLARAARGTG | ALLLRGSLLA | SGRAPRRASS | GLPRNTVVLF | VPQQEAWVVE | RMGRFHRILE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGLNILIPVL | DRIRYVQSLK | EIVINVPEQS | AVTLDNVTLQ | IDGVLYLRIM | DPYKASYGVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DPEYAVTQLA | QTTMRSELGK | LSLDKVFRER | ESLNASIVDA | INQAADCWGI | RCLRYEIKDI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HVPPRVKESM | QMQVEAERRK | RATVLESEGT | RESAINVAEG | KKQAQILASE | AEKAEQINQA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGEASAVLAK | AKAKAEAIRI | LAAALTQHNG | DAAASLTVAE | QYVSAFSKLA | KDSNTILLPS |
| 310 | 320 | 330 | 340 | 350 | |
| NPGDVTSMVA | QAMGVYGALT | KAPVPGTPDS | LSSGSSRDVQ | GTDASLDEEL | DRVKMS |