Q14254
PR
Gene name |
FLOT2 (ESA1, M17S1) |
Protein name |
Flotillin-2 |
Names |
Epidermal surface antigen, ESA, Membrane component chromosome 17 surface marker 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2319 |
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 Q14254
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14254-F1 | Predicted | AlphaFoldDB |
281 variants for Q14254
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA398429756 rs1351895499 |
2 | G>D | No |
ClinGen gnomAD |
|
|
CA8469354 rs765821839 |
2 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1282277560 CA398429750 |
3 | N>K | No |
ClinGen TOPMed |
|
|
CA8469353 rs199799580 |
3 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398429737 rs1464041227 |
5 | H>D | No |
ClinGen gnomAD |
|
|
CA398429734 rs1390277667 |
5 | H>P | No |
ClinGen gnomAD |
|
|
CA398429724 rs1223555613 |
6 | T>A | No |
ClinGen TOPMed |
|
|
CA8469351 rs368026415 |
6 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1173929112 CA398429693 |
9 | P>S | No |
ClinGen gnomAD |
|
|
rs1181266067 CA398429674 |
11 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA398429658 rs1170550404 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398429649 rs1364681317 |
13 | L>P | No |
ClinGen TOPMed |
|
|
rs773419497 CA8469349 |
15 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8469321 rs770685476 |
18 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241920333 CA398427999 |
19 | C>Y | No |
ClinGen gnomAD |
|
|
rs779264562 CA8469319 |
21 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8469318 rs755271021 |
23 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs376080270 CA398427885 |
28 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376080270 COSM1479379 CA8469315 |
28 | V>M | large_intestine Variant assessed as Somatic; 0.0001396 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8469314 rs756561886 |
30 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767477760 CA398427850 |
31 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766987336 CA289141115 |
31 | G>D | No |
ClinGen gnomAD |
|
|
CA8469312 rs767477760 |
31 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398427837 rs1324435327 |
32 | W>S | No |
ClinGen gnomAD |
|
|
rs1404498480 CA398427827 |
33 | A>S | No |
ClinGen gnomAD |
|
|
rs1170518120 CA398427808 |
34 | W>C | No |
ClinGen gnomAD |
|
|
rs369088966 CA8469311 |
36 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1679675 CA8469310 rs751761977 |
37 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1166586881 CA398427750 |
39 | I>T | No |
ClinGen gnomAD |
|
|
rs775401852 CA8469309 |
41 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775401852 CA8469308 |
41 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775401852 CA8469307 |
41 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765305040 CA8469306 |
42 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8469305 rs759387896 |
43 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA398427702 rs1266178370 |
44 | R>G | No |
ClinGen gnomAD |
|
|
rs776263352 CA8469304 |
44 | R>K | No |
ClinGen ExAC gnomAD |
|
| rs374807903 | 55 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1457026667 | 61 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 63 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749079749 | 70 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200747375 CA8469220 |
75 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8469219 rs763645724 |
76 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs372763996 CA8469217 |
79 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372763996 CA8469216 |
79 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385148690 CA398424850 |
80 | E>D | No |
ClinGen gnomAD |
|
|
rs1383892439 CA398424846 |
81 | K>E | No |
ClinGen gnomAD |
|
|
rs1170067082 CA398424818 |
83 | L>I | No |
ClinGen gnomAD |
|
|
CA8469213 rs373654878 |
86 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8469212 rs373654878 |
86 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192064419 CA398424756 |
88 | C>Y | No |
ClinGen gnomAD |
|
|
rs774357270 CA8469211 |
91 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA398424627 rs1222548241 |
93 | G>S | No |
ClinGen gnomAD |
|
|
rs769975014 CA8469207 |
96 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8469208 rs775653497 |
96 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201529069 CA8469206 |
99 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398424458 rs1598090524 |
100 | K>R | No |
ClinGen Ensembl |
|
|
rs746898428 CA8469203 |
102 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8469202 rs777162321 |
103 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398424328 rs1331463999 |
105 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8469198 rs754653321 |
116 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398423950 rs1338016459 |
117 | T>A | No |
ClinGen gnomAD |
|
|
CA398423839 rs1261018540 |
122 | Q>E | No |
ClinGen TOPMed |
|
|
CA289135181 rs987846495 |
123 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763357953 CA8469173 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774018833 CA289135179 |
127 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1267906914 CA398423471 |
134 | V>A | No |
ClinGen gnomAD |
|
|
rs1176641685 CA398423481 |
134 | V>L | No |
ClinGen gnomAD |
|
|
rs1176641685 CA398423478 |
134 | V>M | No |
ClinGen gnomAD |
|
|
rs759768535 CA8469170 |
135 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1598089923 CA398423403 |
137 | V>G | No |
ClinGen Ensembl |
|
|
rs770662483 CA398423340 |
140 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8469168 rs770662483 |
140 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8469166 rs760556311 |
142 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975745321 CA289135136 |
144 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1454983150 CA398423206 |
145 | M>R | No |
ClinGen gnomAD |
|
|
rs1384026385 CA398423148 |
146 | G>D | No |
ClinGen gnomAD |
|
|
CA8469164 rs772102187 |
150 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8469163 rs748089961 |
155 | K>T | No |
ClinGen ExAC gnomAD |
|
| rs1219932006 | 156 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398422667 rs1469979776 |
156 | D>G | No |
ClinGen gnomAD |
|
|
rs778214135 CA8469137 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1296679373 CA398422608 |
158 | Y>C | No |
ClinGen gnomAD |
|
|
rs1296679373 CA398422606 |
158 | Y>F | No |
ClinGen gnomAD |
|
|
rs758713849 CA8469136 |
160 | K>E | No |
ClinGen ExAC |
|
|
rs748685439 CA8469135 |
160 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398422553 rs1275835381 |
161 | V>M | No |
ClinGen gnomAD |
|
|
rs779435564 CA8469134 |
162 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8469133 rs184928815 |
164 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138029483 CA398422387 |
170 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8469131 rs138029483 |
170 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA289134938 rs376860005 |
174 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376860005 CA8469127 |
174 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 178 | D>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200865799 CA8469125 |
180 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762982686 CA8469124 |
181 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA398422141 rs1190006042 |
181 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398422100 rs769129691 |
183 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1610011 rs769129691 CA8469122 |
183 | V>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA289134920 COSM1679674 rs1046289766 |
186 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8469120 rs776108358 |
188 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8469117 rs373662636 |
190 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398421922 rs1375397436 |
191 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs879730539 CA289134860 |
193 | R>Q | No |
ClinGen Ensembl |
|
|
CA8469116 rs769216547 |
193 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398421767 rs1363921880 |
195 | A>G | No |
ClinGen TOPMed |
|
|
CA289134766 rs61730542 |
196 | E>D | No |
ClinGen Ensembl |
|
|
rs760314503 CA8469101 |
196 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA289134764 rs953788381 |
197 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs774700368 CA8469100 |
201 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs768948854 CA8469099 |
203 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1430303648 CA398421536 |
204 | V>M | No |
ClinGen gnomAD |
|
|
rs1305517749 TCGA novel CA398421469 |
206 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs551762020 CA8469097 |
207 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598089242 CA398421459 |
207 | M>T | No |
ClinGen Ensembl |
|
|
rs745997983 CA8469095 |
208 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs370375368 CA8469096 |
208 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8469094 rs781419681 |
209 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA398421410 rs1198314128 |
211 | K>R | No |
ClinGen gnomAD |
|
|
CA398421378 rs1486563248 |
214 | D>Y | No |
ClinGen gnomAD |
|
|
CA8469093 rs377184819 |
216 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398421343 rs1239399094 |
217 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751775843 CA8469092 |
217 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777735240 CA8469091 |
218 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA398421330 rs1171846500 |
218 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758088150 CA8469090 |
219 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8469089 rs757325912 |
220 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754118336 CA8469087 |
227 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754118336 CA8469086 |
227 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398421248 rs1384099333 |
227 | S>R | No |
ClinGen gnomAD |
|
|
rs866829459 CA289134580 |
234 | T>A | No |
ClinGen Ensembl |
|
|
CA398421181 rs1398212494 |
234 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758623114 CA398421154 CA398421153 |
238 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304284876 CA398421137 |
240 | A>V | No |
ClinGen gnomAD |
|
|
rs1205893385 CA398421131 COSM1729122 |
241 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA398421113 rs1468983072 |
244 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1405248165 CA398421111 |
244 | Q>R | No |
ClinGen gnomAD |
|
|
rs567172028 CA8469072 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8469070 rs377676259 |
247 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs567172028 CA8469071 |
247 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398421020 rs1430876758 |
252 | I>V | No |
ClinGen TOPMed |
|
|
CA8469068 rs200382440 |
253 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753714631 CA8469069 |
253 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA398420988 rs1476559280 |
254 | Q>H | No |
ClinGen gnomAD |
|
|
rs755576871 CA8469067 |
257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398420928 rs1450945766 |
258 | E>V | No |
ClinGen gnomAD |
|
|
rs752433543 CA289134493 |
259 | I>T | No |
ClinGen Ensembl |
|
|
CA8469066 rs749899892 |
260 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359819353 CA398420873 |
262 | V>A | No |
ClinGen TOPMed |
|
|
CA398420879 rs1197326185 |
262 | V>L | No |
ClinGen gnomAD |
|
|
rs1001527761 CA289134484 |
264 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs761527007 CA8469065 |
264 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs761527007 CA8469064 |
264 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8469063 rs775724327 |
265 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8469062 rs765582416 |
265 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA398420822 rs1283701013 |
267 | Q>E | No |
ClinGen TOPMed |
|
|
CA398420810 rs1436456953 |
268 | I>M | No |
ClinGen gnomAD |
|
|
rs760143823 CA8469061 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398420802 rs1329853135 |
269 | A>V | No |
ClinGen gnomAD |
|
|
CA8469059 rs771534345 |
270 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8469060 rs771534345 |
270 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747135335 CA8469058 |
271 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8469057 rs377344278 |
272 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430859667 CA398420758 |
275 | I>T | No |
ClinGen gnomAD |
|
|
CA398420743 rs1286658699 |
276 | L>P | No |
ClinGen TOPMed |
|
|
rs767171037 CA289134433 |
277 | R>C | No |
ClinGen Ensembl |
|
|
CA8469055 rs748333520 |
277 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8469054 rs373284292 |
278 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398420705 rs1349628455 |
279 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749252702 CA8469052 |
280 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398420649 rs1325897095 |
283 | I>N | No |
ClinGen gnomAD |
|
|
rs1218706690 CA398420639 |
284 | A>T | No |
ClinGen gnomAD |
|
|
rs1342891437 CA398420634 |
284 | A>V | No |
ClinGen gnomAD |
|
|
CA398420615 rs1479700636 |
286 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756020730 CA8469050 |
287 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750005982 CA8469049 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398420592 rs1157738274 |
288 | R>Q | No |
ClinGen TOPMed |
|
|
rs780688982 CA8469048 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289134368 rs984466226 |
289 | P>L | No |
ClinGen TOPMed |
|
|
CA8469045 rs367833517 |
291 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398420529 rs1413421625 |
293 | E>K | No |
ClinGen gnomAD |
|
|
rs986224579 CA289134355 |
295 | H>R | No |
ClinGen gnomAD |
|
|
rs1567929179 CA398420496 |
295 | H>Y | No |
ClinGen Ensembl |
|
|
rs775177962 CA8469042 |
296 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767049518 CA8469041 |
296 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767049518 CA398420475 |
296 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775177962 CA398420483 |
296 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379508093 CA398420461 |
298 | Q>E | No |
ClinGen gnomAD |
|
|
rs761258422 CA8469040 |
298 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA289134337 rs931664131 |
301 | A>P | No |
ClinGen Ensembl |
|
|
CA8469039 rs767292901 |
302 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398420251 rs1381012063 |
306 | V>A | No |
ClinGen TOPMed |
|
|
CA398420240 rs1339193239 |
308 | Q>E | No |
ClinGen gnomAD |
|
|
rs774269510 CA398420232 |
309 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs774269510 CA8469018 |
309 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA398420210 rs1459335948 |
312 | A>V | No |
ClinGen gnomAD |
|
|
CA398420194 rs768920322 |
315 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA398420192 rs1163773448 |
315 | E>A | No |
ClinGen gnomAD |
|
|
rs768920322 CA8469017 |
315 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA398420148 rs1403883885 |
319 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8469016 rs369702593 |
320 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398420143 rs1310106654 |
320 | R>H | No |
ClinGen TOPMed |
|
|
rs369702593 CA8469015 |
320 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199774391 CA8469014 |
321 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477537660 CA398420115 |
323 | G>R | Variant assessed as Somatic; 4.684e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1202251864 CA398420095 |
324 | E>A | No |
ClinGen gnomAD |
|
|
CA398420097 rs1255964601 |
324 | E>K | No |
ClinGen gnomAD |
|
|
rs373587327 CA398420084 |
325 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185199439 CA398420087 |
325 | A>P | No |
ClinGen gnomAD |
|
|
rs373587327 CA8469012 |
325 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746589792 CA8469010 |
327 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8469008 VAR_024375 rs3736238 |
328 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8469007 rs747745678 |
331 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8469006 rs780587686 |
332 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750717970 CA8469004 COSM244557 |
333 | M>I | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8469003 rs768117137 |
334 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000881621 CA8469002 rs61730546 |
335 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8469001 COSM1479377 rs751666905 |
337 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753830350 CA289133729 |
338 | A>T | No |
ClinGen Ensembl |
|
|
rs763188881 CA8468999 |
340 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374687353 COSM1520856 CA289133717 |
340 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1434319850 CA398419812 |
341 | M>V | No |
ClinGen gnomAD |
|
|
CA398419781 rs1380043257 |
342 | K>R | No |
ClinGen gnomAD |
|
|
CA398419763 rs1392767845 |
343 | L>P | No |
ClinGen TOPMed |
|
|
CA398418454 rs1334638059 |
351 | Y>C | No |
ClinGen TOPMed |
|
|
rs776278631 CA8468995 |
352 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1255683171 CA398418286 |
357 | M>I | No |
ClinGen gnomAD |
|
|
CA398418324 rs1293800270 |
357 | M>V | No |
ClinGen TOPMed |
|
|
CA398418235 rs1312199621 |
360 | V>A | No |
ClinGen gnomAD |
|
|
CA398418193 rs1300504443 |
362 | E>D | No |
ClinGen gnomAD |
|
|
CA398418189 rs1217364148 |
363 | A>T | No |
ClinGen gnomAD |
|
|
rs1446371551 CA398418130 |
366 | Q>E | No |
ClinGen gnomAD |
|
|
rs1422137416 CA398417836 |
372 | A>T | No |
ClinGen gnomAD |
|
|
CA8468974 rs760683074 |
373 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8468972 rs772100503 |
376 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8468971 rs747705083 |
378 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs748837302 CA8468968 |
379 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 381 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781638569 CA8468967 |
381 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398417492 rs1185151786 |
382 | V>A | No |
ClinGen gnomAD |
|
|
rs530495942 CA289133287 |
383 | V>I | No |
ClinGen Ensembl |
|
|
rs1429588041 CA398417468 |
384 | L>V | No |
ClinGen TOPMed |
|
|
CA8468965 rs747346430 |
385 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950194689 CA289133268 |
385 | S>T | No |
ClinGen gnomAD |
|
|
CA398417359 rs151254762 |
387 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8468963 rs758893812 |
390 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs988862085 CA289133262 |
391 | V>I | No |
ClinGen TOPMed |
|
|
CA289133253 rs1013839429 |
393 | S>L | No |
ClinGen TOPMed |
|
|
CA289133224 rs187973207 |
397 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs187973207 CA8468960 |
397 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201248977 CA8468959 |
397 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369098535 CA8468958 |
398 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398416968 rs1418352178 |
399 | L>V | No |
ClinGen gnomAD |
|
|
CA398416928 rs1164166294 |
401 | E>K | No |
ClinGen gnomAD |
|
|
rs1458153341 CA398416881 |
404 | A>T | No |
ClinGen gnomAD |
|
|
rs925839126 CA289133202 |
406 | V>L | No |
ClinGen TOPMed |
|
|
CA398416779 rs1478519248 |
407 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1185271307 CA398416783 |
407 | H>Y | No |
ClinGen gnomAD |
|
|
CA289133193 rs1043274063 |
409 | L>F | No |
ClinGen TOPMed |
|
|
CA398416695 rs1263218677 |
410 | T>A | No |
ClinGen gnomAD |
|
|
rs376264541 CA289133180 |
411 | G>D | No |
ClinGen ESP |
|
|
rs201936801 CA8468956 |
412 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201936801 CA8468955 |
412 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445177305 CA398416577 |
413 | D>Y | No |
ClinGen gnomAD |
|
|
CA398416539 rs1210197645 |
414 | L>P | No |
ClinGen gnomAD |
|
|
CA398416257 rs1446352946 |
417 | I>R | No |
ClinGen TOPMed |
|
|
CA8468935 rs77888293 |
418 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1164203849 CA398416202 |
418 | P>S | No |
ClinGen TOPMed |
|
|
rs761867326 CA8468932 |
423 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA289132952 rs906155366 |
424 | T>A | No |
ClinGen TOPMed |
|
|
CA8468931 rs751505577 |
425 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1407716569 CA398415855 |
427 | Q>H | No |
ClinGen gnomAD |
|
|
CA398415860 rs1330197849 |
427 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372414269 CA8468930 |
428 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355373148 CA398415848 |
428 | V>M | No |
ClinGen TOPMed |
No associated diseases with Q14254
Functions
20 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal membrane | The membrane that surrounds the acrosomal lumen. The acrosome is a special type of lysosome in the head of a spermatozoon that contains acid hydrolases and is concerned with the breakdown of the outer membrane of the ovum during fertilization. |
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cell-cell contact zone | Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
| endocytic vesicle | A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| flotillin complex | A protein complex that contains flotillin-1 and flotillin-2, and may contain associated proteins. Flotillins associate into membrane microdomains resembling caveolae. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| uropod | A membrane projection with related cytoskeletal components at the trailing edge of a cell in the process of migrating or being activated, found on the opposite side of the cell from the leading edge or immunological synapse, respectively. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde dendritic transport | The directed movement of organelles or molecules along microtubules from the cell body toward the postsynapse in dendrites. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| negative regulation of amyloid precursor protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of amyloid precursor protein catabolic process. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of establishment of T cell polarity | Any process that activates or increases the frequency, rate or extent of establishment of T cell polarity. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein localization to plasma membrane raft | A process in which a protein is transported to, or maintained in, a location within a plasma membrane raft. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of myoblast differentiation | Any process that modulates the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| regulation of postsynaptic membrane neurotransmitter receptor levels | Any process that regulates the the local concentration of neurotransmitter receptor at the postsynaptic membrane. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QLR4 | FLOT2 | Flotillin-2 | Bos taurus (Bovine) | PR |
| Q08DN8 | FLOT1 | Flotillin-1 | Bos taurus (Bovine) | PR |
| Q7YR41 | FLOT1 | Flotillin-1 | Pan troglodytes (Chimpanzee) | PR |
| O61491 | Flo1 | Flotillin-1 | Drosophila melanogaster (Fruit fly) | PR |
| O75955 | FLOT1 | Flotillin-1 | Homo sapiens (Human) | PR |
| O08917 | Flot1 | Flotillin-1 | Mus musculus (Mouse) | PR |
| Q60634 | Flot2 | Flotillin-2 | Mus musculus (Mouse) | PR |
| Q767L6 | FLOT1 | Flotillin-1 | Sus scrofa (Pig) | PR |
| Q9Z1E1 | Flot1 | Flotillin-1 | Rattus norvegicus (Rat) | PR |
| Q9Z2S9 | Flot2 | Flotillin-2 | Rattus norvegicus (Rat) | PR |
| Q5TM70 | FLOT1 | Flotillin-1 | Macaca mulatta (Rhesus macaque) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGNCHTVGPN | EALVVSGGCC | GSDYKQYVFG | GWAWAWWCIS | DTQRISLEIM | TLQPRCEDVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TAEGVALTVT | GVAQVKIMTE | KELLAVACEQ | FLGKNVQDIK | NVVLQTLEGH | LRSILGTLTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EQIYQDRDQF | AKLVREVAAP | DVGRMGIEIL | SFTIKDVYDK | VDYLSSLGKT | QTAVVQRDAD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IGVAEAERDA | GIREAECKKE | MLDVKFMADT | KIADSKRAFE | LQKSAFSEEV | NIKTAEAQLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YELQGAREQQ | KIRQEEIEIE | VVQRKKQIAV | EAQEILRTDK | ELIATVRRPA | EAEAHRIQQI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AEGEKVKQVL | LAQAEAEKIR | KIGEAEAAVI | EAMGKAEAER | MKLKAEAYQK | YGDAAKMALV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LEALPQIAAK | IAAPLTKVDE | IVVLSGDNSK | VTSEVNRLLA | ELPASVHALT | GVDLSKIPLI |
| KKATGVQV |