Q9NVA2
Gene name |
SEPTIN11 |
Protein name |
Septin-11 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55752 |
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
2 structures for Q9NVA2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6UPQ | X-ray | 186 A | B | 40-306 | PDB |
| AF-Q9NVA2-F1 | Predicted | AlphaFoldDB |
242 variants for Q9NVA2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA100226641 rs751652079 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1303114153 CA357453206 |
3 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA357453203 rs1387288530 |
3 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578107258 CA357453220 |
5 | V>G | No |
ClinGen Ensembl |
|
|
rs1329197566 CA357453223 |
6 | G>W | No |
ClinGen gnomAD |
|
|
rs755127981 CA2973840 |
8 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2973839 rs755127981 |
8 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253832332 CA357452959 |
15 | N>H | No |
ClinGen gnomAD |
|
|
CA357452969 rs1578159060 |
16 | L>F | No |
ClinGen Ensembl |
|
|
CA2973859 rs763601314 |
16 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs572347228 CA2973860 |
17 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757240714 CA2973861 |
21 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA100231253 rs982583201 |
21 | H>L | No |
ClinGen gnomAD |
|
|
CA357452998 rs982583201 |
21 | H>R | No |
ClinGen gnomAD |
|
|
CA2973862 rs780984694 |
22 | V>G | No |
ClinGen ExAC |
|
|
CA100231255 rs77258456 |
24 | F>L | No |
ClinGen Ensembl |
|
|
rs1374900833 CA357453028 |
26 | S>G | No |
ClinGen gnomAD |
|
|
CA100231256 rs919706619 |
27 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1334450177 CA357453067 |
32 | V>I | No |
ClinGen gnomAD |
|
|
rs1359204415 CA357453129 |
41 | C>S | No |
ClinGen TOPMed |
|
|
CA357453153 rs1158504115 |
44 | I>L | No |
ClinGen TOPMed |
|
|
CA357453167 rs1385299687 |
46 | C>R | No |
ClinGen TOPMed |
|
|
rs1464993625 CA357453169 |
46 | C>Y | No |
ClinGen gnomAD |
|
|
CA357453179 rs1183288525 |
47 | V>A | No |
ClinGen TOPMed |
|
|
CA2973863 rs745711264 |
48 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357453564 rs1271422997 |
51 | G>A | No |
ClinGen gnomAD |
|
|
rs1336926547 CA357453567 |
52 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357453598 rs1369285397 |
56 | T>M | No |
ClinGen gnomAD |
|
|
rs1290443274 CA357453608 |
58 | M>V | No |
ClinGen gnomAD |
|
|
CA2973880 rs750349530 |
59 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs539508758 CA100232133 |
60 | T>I | No |
ClinGen Ensembl |
|
|
CA357453666 rs1211531842 |
66 | F>L | No |
ClinGen gnomAD |
|
|
CA357453664 rs1211531842 |
66 | F>V | No |
ClinGen gnomAD |
|
|
CA2973881 rs756037913 |
68 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2973883 rs749031947 |
70 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA100232134 rs906911431 |
71 | A>G | No |
ClinGen Ensembl |
|
|
rs1371388312 CA357453701 |
71 | A>P | No |
ClinGen gnomAD |
|
|
rs1416508651 CA357453709 |
72 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1163942386 CA357453705 |
72 | T>P | No |
ClinGen gnomAD |
|
|
CA2973886 rs747135234 |
73 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA357453723 rs746370026 |
74 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2973887 rs373899046 |
74 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2973888 rs373899046 |
74 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770527495 CA100232135 |
76 | P>A | No |
ClinGen Ensembl |
|
|
rs770280904 CA2973890 |
76 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA100232136 rs368053703 |
77 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2973891 rs368053703 |
77 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357453740 rs1300009762 |
78 | V>I | No |
ClinGen gnomAD |
|
|
rs768334962 CA2973893 |
79 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763296282 CA2973892 |
79 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs952242554 CA100232137 |
83 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA100232138 rs985469736 |
83 | R>K | No |
ClinGen TOPMed |
|
|
CA2973895 rs759200154 |
84 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357453796 rs1578172928 |
86 | E>D | No |
ClinGen Ensembl |
|
|
CA100232139 rs1015164929 |
87 | L>F | No |
ClinGen gnomAD |
|
|
CA357453798 rs1015164929 |
87 | L>I | No |
ClinGen gnomAD |
|
|
rs1259870648 CA357453820 |
90 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs189107905 CA2973896 |
91 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574096825 CA2973898 |
93 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749880859 CA2973897 |
93 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487868536 CA357453846 |
94 | L>P | No |
ClinGen gnomAD |
|
|
CA357453869 rs1005391417 |
98 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA100232140 rs1005391417 |
98 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1164877184 CA357453875 |
99 | V>I | No |
ClinGen gnomAD |
|
|
CA357453882 rs1214137441 |
100 | D>H | No |
ClinGen gnomAD |
|
|
rs753728133 CA2973900 |
101 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754798776 CA2973901 |
101 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778803150 CA2973902 |
102 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382235136 CA357453915 |
105 | G>E | No |
ClinGen gnomAD |
|
|
CA2973904 rs757437859 |
107 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA100232142 rs752613701 |
108 | I>K | No |
ClinGen Ensembl |
|
|
CA2973905 rs147132354 |
108 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1292551449 CA357453938 |
109 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357454010 rs752486817 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752486817 CA2973924 |
116 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767777730 CA2973926 |
117 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756193741 CA2973928 |
118 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs138558365 CA2973927 |
118 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357454027 rs780055583 |
119 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA100232738 rs762196941 |
121 | I>T | No |
ClinGen Ensembl |
|
|
CA357454049 rs1250232443 |
122 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749821660 CA2973930 |
122 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA357454070 rs779262291 |
125 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2973931 rs755411718 |
125 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748531701 CA2973933 |
127 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs771686832 CA2973934 |
129 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA357454131 rs1354675965 |
134 | K>R | No |
ClinGen gnomAD |
|
|
rs149630228 CA2973935 |
136 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA100232740 rs866623127 |
137 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2973936 rs746595068 |
142 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA357454182 rs1395707704 |
142 | Y>N | No |
ClinGen gnomAD |
|
|
rs1466044094 CA357454189 |
143 | H>N | No |
ClinGen TOPMed |
|
|
CA2973937 rs770596285 |
143 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466044094 CA357454191 |
143 | H>Y | No |
ClinGen TOPMed |
|
|
rs776217889 CA2973938 |
145 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA357454229 rs1469141733 |
148 | H>Q | No |
ClinGen TOPMed |
|
|
rs1578181224 CA357454227 |
148 | H>R | No |
ClinGen Ensembl |
|
|
rs1298384006 CA357454232 |
149 | A>P | No |
ClinGen gnomAD |
|
|
rs369111942 CA2973939 |
151 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357454277 rs1489098591 |
155 | A>G | No |
ClinGen gnomAD |
|
|
rs1006675162 CA100232742 |
157 | T>A | No |
ClinGen TOPMed |
|
|
CA357454288 rs1215884568 |
157 | T>I | No |
ClinGen gnomAD |
|
|
CA357454309 rs1292542057 |
160 | S>L | No |
ClinGen gnomAD |
|
|
rs775495554 CA2973941 |
163 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762775423 CA2973942 |
164 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA357454345 rs1419577271 |
167 | V>I | No |
ClinGen gnomAD |
|
|
rs767678053 CA2973943 |
168 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2973944 rs750676544 |
171 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357454377 rs1372365703 |
171 | K>M | No |
ClinGen gnomAD |
|
|
rs1461904769 CA357454378 |
171 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1340457212 CA357454432 |
177 | N>I | No |
ClinGen TOPMed |
|
|
rs762747394 CA2973959 |
178 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762747394 CA357454435 |
178 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357454455 rs1291919722 |
181 | I>V | No |
ClinGen gnomAD |
|
|
CA2973962 rs200669230 |
188 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2973961 rs567560732 |
188 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2973964 rs753983158 |
190 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs903013288 CA100233047 |
190 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 192 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255235586 CA357454567 |
197 | K>R | No |
ClinGen gnomAD |
|
|
CA2973965 rs759580405 |
198 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765253983 CA2973966 |
199 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2973967 rs547138375 |
201 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758764668 CA2973968 |
204 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA100233048 rs200002329 |
207 | N>D | No |
ClinGen 1000Genomes |
|
|
rs778216469 CA2973969 |
207 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780964001 CA2973972 |
212 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA357454678 rs1471675211 |
213 | Q>P | No |
ClinGen TOPMed |
|
|
CA100233049 rs1035535345 |
219 | E>G | No |
ClinGen Ensembl |
|
|
rs769449041 CA357454730 |
220 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2973974 rs769449041 |
220 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308026525 CA357454739 |
222 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs150623142 CA2973976 |
222 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774260132 CA2973978 COSM196739 |
226 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA100233050 rs71661117 |
227 | T>P | No |
ClinGen Ensembl |
|
|
rs1294195244 CA357454777 |
228 | M>V | No |
ClinGen TOPMed |
|
|
CA2973980 rs771181394 |
229 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778682030 CA2973995 |
230 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417923855 CA357454826 |
233 | P>L | No |
ClinGen gnomAD |
|
|
CA357454833 rs1409958373 |
234 | F>C | No |
ClinGen gnomAD |
|
|
rs1326993926 CA357454839 COSM1057745 |
235 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs771886566 CA2973997 |
237 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759768495 CA2973999 |
240 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759768495 CA2974000 |
240 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357454871 rs1271441074 |
241 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 242 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190384708 CA357454905 |
245 | I>T | No |
ClinGen TOPMed |
|
|
CA2974005 rs376954304 |
246 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466792562 CA357454908 |
246 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357454953 rs1211623287 |
252 | A>S | No |
ClinGen gnomAD |
|
|
rs1341596863 CA357455038 |
262 | V>A | No |
ClinGen TOPMed |
|
|
CA2974030 rs773778323 |
263 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311714703 CA357455076 |
267 | H>Q | No |
ClinGen gnomAD |
|
|
CA2974032 rs766103014 |
267 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA357455079 rs1336182074 |
268 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357455086 rs1277967112 |
269 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs933372079 CA100233649 |
271 | V>L | No |
ClinGen Ensembl |
|
|
CA2974035 rs764741944 |
274 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2974036 rs752190171 |
276 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2974038 rs777660289 |
279 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1007223729 CA100233650 |
280 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2974040 rs757027706 |
281 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA100233652 rs377563788 |
286 | R>G | No |
ClinGen ESP |
|
|
CA2974041 rs780997520 |
286 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749473915 CA2974042 |
288 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1173713183 CA357455220 |
289 | T>P | No |
ClinGen gnomAD |
|
|
rs774626655 CA2974044 |
290 | H>N | No |
ClinGen ExAC |
|
|
CA2974045 rs748232949 |
290 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs200976530 CA2974046 |
291 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs914075587 CA100233654 |
292 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1196329 CA2974047 rs773831318 |
292 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2974049 rs771206259 |
294 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA100233655 rs1044354740 |
295 | E>Q | No |
ClinGen TOPMed |
|
|
rs900108257 CA100233656 |
299 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759170909 CA2974051 |
299 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs529122060 CA2974052 |
301 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357455298 rs752247253 |
301 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752247253 CA2974053 |
301 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194423614 CA357455303 |
302 | L>V | No |
ClinGen gnomAD |
|
|
CA2974054 rs762430454 |
303 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2974055 rs763550483 |
304 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1195297439 CA357455328 |
305 | M>I | No |
ClinGen TOPMed |
|
|
rs1193932862 CA357455323 |
305 | M>V | No |
ClinGen gnomAD |
|
|
CA357455354 rs1324280265 |
309 | D>H | No |
ClinGen TOPMed |
|
|
CA357455363 rs1560740881 |
310 | T>S | No |
ClinGen Ensembl |
|
|
CA357455371 rs1254522164 |
311 | D>G | No |
ClinGen gnomAD |
|
|
CA2974056 rs374124952 |
312 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750216211 CA2974059 |
317 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357455446 rs1204820192 |
320 | Q>E | No |
ClinGen TOPMed |
|
|
CA2974081 rs779945546 |
323 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1282228946 CA357455485 |
325 | A>E | No |
ClinGen gnomAD |
|
|
rs1356667896 CA357455507 |
328 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 329 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357455535 rs1235467440 |
332 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs150688245 CA2974083 |
337 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752998062 CA2974082 |
337 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200457354 CA2974084 |
343 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2974087 rs771384009 |
344 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2974086 rs747109761 |
344 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370011814 CA100234466 |
344 | M>V | No |
ClinGen ESP gnomAD |
|
|
rs1299078693 CA357455641 |
347 | M>V | No |
ClinGen TOPMed |
|
|
CA357455694 rs1475502108 |
354 | A>T | No |
ClinGen gnomAD |
|
|
CA357455722 rs1437708754 |
358 | E>K | No |
ClinGen TOPMed |
|
|
rs1021452483 CA100234468 |
359 | A>G | No |
ClinGen Ensembl |
|
|
CA357455731 rs1411407881 |
359 | A>S | No |
ClinGen gnomAD |
|
|
CA357455758 rs1347214189 |
362 | E>D | No |
ClinGen gnomAD |
|
|
CA357455752 rs1325097312 |
362 | E>Q | No |
ClinGen TOPMed |
|
|
COSM1057747 rs780450396 CA2974109 |
365 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA99905386 rs553968886 |
369 | L>F | No |
ClinGen gnomAD |
|
|
rs768230308 CA2974111 |
372 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2974112 rs774031568 |
376 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357353002 CA357353003 rs1307871901 |
384 | K>N | No |
ClinGen gnomAD |
|
|
rs369007706 CA2974113 |
384 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
| rs1378638278 | 386 | K>missing | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892717514 CA99905414 |
387 | E>D | No |
ClinGen Ensembl |
|
|
CA2974115 rs772529752 |
394 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs771644039 CA2974114 |
394 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA357353315 rs1193959141 |
400 | A>G | No |
ClinGen gnomAD |
|
|
CA357353334 rs1204946414 |
401 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776609345 CA2974118 |
406 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357353432 rs1253887695 |
406 | Q>H | No |
ClinGen gnomAD |
|
|
CA357353504 rs1170897864 |
410 | Q>* | No |
ClinGen gnomAD |
|
|
rs1411073748 CA357353597 |
414 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs764894616 CA357353591 |
414 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764894616 CA2974120 |
414 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411073748 CA357353601 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1172948081 CA357353612 |
415 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357353858 rs1345157867 |
422 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 423 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362247163 CA357353954 |
424 | K>R | No |
ClinGen gnomAD |
|
|
rs760719379 CA2974145 |
429 | T>A | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9NVA2
Without disease ID
1 regional properties for Q9NVA2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Septin-type guanine nucleotide-binding (G) domain | 38 - 307 | IPR030379 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cell division site | The eventual plane of cell division (also known as cell cleavage or cytokinesis) in a dividing cell. In Eukaryotes, the cleavage apparatus, composed of septin structures and the actomyosin contractile ring, forms along this plane, and the mitotic, or meiotic, spindle is aligned perpendicular to the division plane. In bacteria, the cell division site is generally located at mid-cell and is the site at which the cytoskeletal structure, the Z-ring, assembles. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| septin complex | A protein complex containing septins. Typically, these complexes contain multiple septins and are oligomeric. |
| septin ring | A tight ring-shaped structure that forms in the division plane at the site of cytokinesis; composed of members of the conserved family of filament-forming proteins called septins as well as septin-associated proteins. This type of septin structure is observed at the bud neck of budding fungal cells, at the site of cell division in animal cells, at the junction between the mother cell and a pseudohyphal projection, and also within hyphae of filamentous fungi at sites where a septum will form. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton-dependent cytokinesis | A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32468 | CDC12 | Cell division control protein 12 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q07657 | SHS1 | Seventh homolog of septin 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32457 | CDC3 | Cell division control protein 3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A6QQL3 | SEPTIN14 | Septin-14 | Bos taurus (Bovine) | PR |
| Q3SZN0 | SEPTIN6 | Septin-6 | Bos taurus (Bovine) | PR |
| A2VE99 | SEPTIN11 | Septin-11 | Bos taurus (Bovine) | PR |
| P54359 | 02-Sep | Septin-2 | Drosophila melanogaster (Fruit fly) | PR |
| Q16181 | SEPTIN7 | Septin-7 | Homo sapiens (Human) | PR |
| Q14141 | SEPTIN6 | Septin-6 | Homo sapiens (Human) | PR |
| Q9P0V9 | SEPTIN10 | Septin-10 | Homo sapiens (Human) | PR |
| Q9UH03 | SEPTIN3 | Neuronal-specific septin-3 | Homo sapiens (Human) | PR |
| Q9UHD8 | SEPTIN9 | Septin-9 | Homo sapiens (Human) | PR |
| Q8CHH9 | Septin8 | Septin-8 | Mus musculus (Mouse) | PR |
| Q9DA97 | Septin14 | Septin-14 | Mus musculus (Mouse) | PR |
| Q9R1T4 | Septin6 | Septin-6 | Mus musculus (Mouse) | PR |
| Q8C1B7 | Septin11 | Septin-11 | Mus musculus (Mouse) | PR |
| B0BNF1 | Septin8 | Septin-8 | Rattus norvegicus (Rat) | PR |
| B3GNI6 | Septin11 | Septin-11 | Rattus norvegicus (Rat) | PR |
| A4FUM1 | sept8b | Septin-8-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q642H3 | sept8a | Septin-8-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVAVGRPSN | EELRNLSLSG | HVGFDSLPDQ | LVNKSTSQGF | CFNILCVGET | GIGKSTLMDT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFNTKFESDP | ATHNEPGVRL | KARSYELQES | NVRLKLTIVD | TVGFGDQINK | DDSYKPIVEY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDAQFEAYLQ | EELKIKRSLF | NYHDTRIHAC | LYFIAPTGHS | LKSLDLVTMK | KLDSKVNIIP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IIAKADTIAK | NELHKFKSKI | MSELVSNGVQ | IYQFPTDEET | VAEINATMSV | HLPFAVVGST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEVKIGNKMA | KARQYPWGVV | QVENENHCDF | VKLREMLIRV | NMEDLREQTH | TRHYELYRRC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLEEMGFKDT | DPDSKPFSLQ | ETYEAKRNEF | LGELQKKEEE | MRQMFVMRVK | EKEAELKEAE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KELHEKFDLL | KRTHQEEKKK | VEDKKKELEE | EVNNFQKKKA | AAQLLQSQAQ | QSGAQQTKKD |
| KDKKNASFT |