Q12846
Gene name |
STX4 (STX4A) |
Protein name |
Syntaxin-4 |
Names |
Renal carcinoma antigen NY-REN-31 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6810 |
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 Q12846
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q12846-F1 | Predicted | AlphaFoldDB |
231 variants for Q12846
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1177739426 CA395648834 |
3 | D>E | No |
ClinGen gnomAD |
|
|
CA395648828 rs1416796525 |
3 | D>N | No |
ClinGen gnomAD |
|
|
CA395648840 rs1193334181 |
4 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395648852 rs1241136551 |
6 | H>D | No |
ClinGen gnomAD |
|
|
rs1375705041 CA395648868 |
7 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395648870 rs1375705041 |
7 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1405694324 CA395648889 |
8 | L>P | No |
ClinGen TOPMed |
|
|
rs1321458125 CA395648905 |
9 | R>I | No |
ClinGen TOPMed |
|
|
rs760104174 CA8018570 |
10 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747824302 CA8018584 |
12 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280563913 rs748093292 |
12 | D>H | No |
ClinGen gnomAD |
|
|
CA395648982 rs748093292 |
12 | D>N | No |
ClinGen gnomAD |
|
|
CA280563918 rs772128472 |
13 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA395649024 rs1272164367 |
14 | S>N | No |
ClinGen gnomAD |
|
|
CA395649074 rs1596734089 |
17 | E>K | No |
ClinGen Ensembl |
|
|
rs1253154781 CA395649105 |
18 | E>* | No |
ClinGen gnomAD |
|
|
CA395649152 rs370946455 |
19 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8018587 rs370946455 |
19 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA280563932 rs931321219 |
20 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1249546293 CA395649225 |
21 | E>G | No |
ClinGen gnomAD |
|
|
CA8018588 rs759958012 |
22 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395649291 rs775695481 |
23 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775695481 CA8018590 |
23 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395649336 rs1437011293 |
24 | A>V | No |
ClinGen TOPMed |
|
|
CA395649384 rs1596734152 |
26 | V>G | No |
ClinGen Ensembl |
|
|
CA395649412 rs1596734175 |
27 | V>G | No |
ClinGen Ensembl |
|
|
rs1347164142 CA395649406 |
27 | V>L | No |
ClinGen TOPMed |
|
|
CA395649425 rs1438830400 |
28 | H>Y | No |
ClinGen gnomAD |
|
|
CA8018592 rs764583237 |
29 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754062806 CA8018593 |
29 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8018595 rs765337752 |
30 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8018597 rs369168805 |
31 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395649590 rs1333479757 |
34 | L>P | No |
ClinGen gnomAD |
|
|
rs1596734250 CA395649669 |
36 | S>G | No |
ClinGen Ensembl |
|
|
rs1285892053 CA395649672 |
36 | S>N | No |
ClinGen gnomAD |
|
|
CA395649680 rs1596734255 |
36 | S>R | No |
ClinGen Ensembl |
|
|
rs754721884 CA8018600 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395649726 rs1596734267 |
38 | D>G | No |
ClinGen Ensembl |
|
|
CA8018603 rs747734355 |
39 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8018606 rs769504539 |
40 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA280564022 rs1010575802 |
41 | F>C | No |
ClinGen TOPMed |
|
|
rs1189207190 CA395649810 |
41 | F>L | No |
ClinGen gnomAD |
|
|
CA395649802 rs1596734303 |
41 | F>V | No |
ClinGen Ensembl |
|
|
CA395649871 rs1459911429 |
44 | K>M | No |
ClinGen gnomAD |
|
|
CA280564117 rs990661615 |
45 | V>I | No |
ClinGen TOPMed |
|
|
rs770424224 CA8018627 |
46 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs184925516 CA8018626 |
46 | R>W | No |
ClinGen 1000Genomes ExAC |
|
|
CA8018628 rs778297706 |
47 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395649954 rs1179466562 |
48 | I>L | No |
ClinGen TOPMed |
|
|
CA8018629 rs747451911 |
49 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs777119919 CA8018632 |
52 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777119919 CA8018631 |
52 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395650007 rs1454923298 |
56 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1454923298 CA395650006 |
56 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs139470583 CA8018634 |
57 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1173257513 CA395650016 COSM1235783 |
58 | K>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs984078860 CA280564156 |
58 | K>R | No |
ClinGen TOPMed |
|
|
CA280564161 rs908560895 |
60 | Q>E | No |
ClinGen TOPMed |
|
|
CA395650032 rs1432654416 |
60 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395650038 rs1567388221 |
61 | E>G | No |
ClinGen Ensembl |
|
|
CA8018635 rs763101653 |
61 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8018636 rs766416447 |
63 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159653548 CA395650062 |
64 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751659069 CA8018637 |
65 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395650075 rs1399055544 |
66 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371627793 CA8018638 |
68 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457381402 CA395650103 |
71 | A>T | No |
ClinGen TOPMed |
|
|
CA395650135 rs1161670402 |
76 | E>* | No |
ClinGen TOPMed |
|
|
rs930533328 CA395650137 |
76 | E>G | No |
ClinGen gnomAD |
|
|
rs930533328 CA280564254 |
76 | E>V | No |
ClinGen gnomAD |
|
|
CA395650149 rs1339376505 |
78 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395650166 rs1289102779 |
78 | S>R | No |
ClinGen gnomAD |
|
|
CA395650148 rs1339376505 |
78 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8018668 rs749918866 |
80 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8018667 rs764843164 |
80 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216693053 CA395650240 |
88 | D>G | No |
ClinGen gnomAD |
|
|
rs1318817214 CA395650233 |
88 | D>N | No |
ClinGen gnomAD |
|
|
rs139153719 CA8018671 |
90 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8018672 rs756647558 |
92 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs778189453 CA8018673 |
94 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8018675 rs771153904 |
95 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA395650347 rs1596734961 |
96 | E>Q | No |
ClinGen Ensembl |
|
|
CA8018676 rs374479299 |
97 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8018677 rs746110338 |
98 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377624173 CA280564407 |
98 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs149926282 CA8018679 |
99 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395650508 rs1360730651 |
104 | I>T | No |
ClinGen TOPMed |
|
|
CA395650503 rs1216536490 |
104 | I>V | No |
ClinGen TOPMed |
|
|
CA395650513 rs1027422217 |
105 | E>K | No |
ClinGen TOPMed |
|
|
CA280564761 rs1027422217 |
105 | E>Q | No |
ClinGen TOPMed |
|
|
rs1567388717 CA621870445 |
105 | E>V* | No |
ClinGen Ensembl |
|
|
rs769649961 CA8018703 |
110 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395650673 rs1195058329 |
111 | A>G | No |
ClinGen gnomAD |
|
|
rs1270976066 CA395650688 |
112 | D>A | No |
ClinGen TOPMed |
|
|
CA395650730 rs1324476752 |
114 | N>K | No |
ClinGen TOPMed |
|
|
rs140610940 CA280564780 |
118 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140610940 CA8018705 |
118 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751049136 CA8018707 |
123 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398146678 CA395650939 |
124 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8018709 rs192745083 |
125 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8018712 rs565521300 |
126 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1435482161 CA395651004 |
126 | Q>H | No |
ClinGen gnomAD |
|
|
CA8018740 rs748312857 |
127 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs748312857 CA8018739 |
127 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1024123782 CA280566270 |
127 | H>Y | No |
ClinGen TOPMed |
|
|
CA395652818 rs1417180106 |
129 | V>A | No |
ClinGen gnomAD |
|
|
rs770790549 CA8018743 |
133 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395652879 rs556202200 |
135 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8018744 rs556202200 |
135 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745502227 CA8018745 |
136 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258834401 CA395652902 |
137 | L>H | No |
ClinGen TOPMed |
|
|
CA280566286 rs998256690 |
139 | N>D | No |
ClinGen Ensembl |
|
|
rs1358538375 CA395652921 COSM3690948 |
139 | N>S | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1416484319 CA395652927 |
140 | K>Q | No |
ClinGen gnomAD |
|
|
rs1313434688 CA395652947 |
141 | C>* | No |
ClinGen gnomAD |
|
|
rs144183945 CA8018746 |
144 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 145 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774836605 CA8018747 |
145 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8018750 rs376363400 |
147 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350520690 COSM185196 CA395653059 |
149 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA395653055 rs1284242148 |
149 | R>W | No |
ClinGen gnomAD |
|
|
rs1212161380 CA395653061 |
150 | E>Q | No |
ClinGen gnomAD |
|
|
CA280566310 rs766650870 |
152 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA395653091 rs1440740574 |
152 | N>S | No |
ClinGen gnomAD |
|
|
CA8018753 rs752023820 |
153 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1266993 CA8018755 rs767822435 |
155 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8018754 rs755136571 COSM970073 |
155 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419276118 CA395653140 |
157 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs141075935 CA8018756 |
157 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395653211 rs1567390313 |
163 | T>P | No |
ClinGen Ensembl |
|
|
rs760980449 CA8018775 |
164 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442076826 CA395653278 |
165 | A>G | No |
ClinGen gnomAD |
|
|
rs982538191 CA280566427 |
165 | A>T | No |
ClinGen Ensembl |
|
|
rs867510709 CA280566431 |
166 | G>V | No |
ClinGen Ensembl |
|
|
CA395653362 rs1329712277 |
172 | E>A | No |
ClinGen gnomAD |
|
|
CA280566451 rs1051195 |
174 | E>D | No |
ClinGen Ensembl |
|
|
CA395653418 rs1171957879 |
176 | M>I | No |
ClinGen gnomAD |
|
|
rs1230184420 CA395653446 |
179 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754029888 CA8018777 |
182 | S>N | No |
ClinGen ExAC |
|
|
CA8018779 rs376829665 |
183 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750355371 CA8018780 |
184 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167773750 CA395653534 |
185 | F>S | No |
ClinGen TOPMed |
|
|
CA395653553 rs1462285024 |
187 | S>P | No |
ClinGen gnomAD |
|
|
rs779834683 CA8018782 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754597545 CA8018802 |
189 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143510048 CA8018803 |
192 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 192 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8018804 rs150948517 |
193 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150948517 CA395653713 |
193 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 195 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8018808 rs141062694 |
197 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8018809 rs775974182 |
197 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395653815 rs1319014234 |
199 | A>D | No |
ClinGen gnomAD |
|
|
rs1240907057 CA395653825 |
200 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA280566688 rs1001322275 |
202 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395653901 rs1165344395 |
204 | S>L | No |
ClinGen TOPMed |
|
|
rs866878937 CA280566702 |
206 | R>Q | No |
ClinGen Ensembl |
|
|
rs769170826 CA8018811 |
206 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 208 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259583499 CA395654025 |
212 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8018815 rs761952530 |
212 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395654028 rs1259583499 |
212 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8018816 rs370196565 |
215 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540497072 COSM1301903 CA8018817 |
215 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs540497072 CA395654129 |
215 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395654143 rs1371068262 |
216 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1462835263 CA395654187 COSM970074 |
218 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs373829816 COSM3361736 CA8018818 |
218 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA395654223 rs1370002590 |
219 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 221 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751532816 CA8018820 |
222 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs565199561 CA395654324 |
224 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565199561 CA8018821 |
224 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395654363 rs1360298642 |
225 | T>S | No |
ClinGen gnomAD |
|
|
CA395654389 rs945415027 |
227 | L>V | No |
ClinGen gnomAD |
|
|
rs1362993918 CA395654427 |
229 | T>I | No |
ClinGen TOPMed |
|
|
CA8018823 rs377468059 |
230 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395654456 rs1375621480 |
231 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs903964919 CA280566771 |
232 | E>G | No |
ClinGen gnomAD |
|
|
CA8018825 rs777322966 |
233 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371244325 CA8018824 |
233 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396756615 CA395654654 |
236 | E>Q | No |
ClinGen TOPMed |
|
|
CA8018852 rs200012136 |
237 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280567386 rs532998208 |
238 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562489469 CA395654717 |
239 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562489469 CA8018853 |
239 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376701568 CA8018855 |
240 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8018854 rs770931989 |
240 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395654806 rs1342351625 |
244 | N>K | No |
ClinGen gnomAD |
|
|
CA280567423 rs893251464 |
247 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759458097 CA8018856 |
249 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199709113 CA8018858 |
252 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8018859 rs760346516 |
254 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA280567439 rs200786971 |
254 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200786971 CA8018861 |
254 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200786971 CA8018860 |
254 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA280567452 rs966581561 |
257 | E>D | No |
ClinGen TOPMed |
|
|
rs1488866019 CA395655033 |
259 | V>F | No |
ClinGen gnomAD |
|
|
CA395655028 rs1488866019 |
259 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA280567460 rs1033941416 |
260 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750008975 CA395655062 |
260 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750008975 CA8018864 |
260 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs142253791 CA8018865 |
261 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1413409598 CA395655089 |
262 | A>T | No |
ClinGen gnomAD |
|
|
rs1162505941 CA395655128 |
264 | E>G | No |
ClinGen gnomAD |
|
|
rs376316073 CA280567507 COSM1478816 |
269 | A>V | Variant assessed as Somatic; 4.622e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA280567612 rs1037975946 |
272 | K>N | No |
ClinGen Ensembl |
|
|
CA8018885 rs753079913 |
274 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138235448 CA8018886 |
279 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395656334 rs1445294322 |
280 | V>M | No |
ClinGen gnomAD |
|
|
rs1378073962 CA395656390 |
282 | I>N | No |
ClinGen gnomAD |
|
|
CA8018887 rs764353518 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8018890 rs771745614 |
284 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8018891 rs771745614 |
284 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8018894 rs746913731 |
285 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8018892 rs149552887 |
285 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8018893 rs149552887 |
285 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs890878699 CA280567672 |
288 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs890878699 CA395656551 |
288 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1177838249 CA395656628 |
291 | I>T | No |
ClinGen gnomAD |
|
|
CA8018896 rs776543576 |
291 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8018899 rs769736866 |
293 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM212242 CA8018898 rs769736866 |
293 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8018900 rs762675311 |
295 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412304008 CA395656735 |
297 | G>A | No |
ClinGen gnomAD |
|
|
rs765803811 CA8018901 |
297 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q12846
No regional properties for Q12846
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q12846 | |||
Functions
28 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| 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. |
| lateral loop | Non-compact myelin located adjacent to the nodes of Ranvier in a myelin segment. These non-compact regions include cytoplasm from the cell responsible for synthesizing the myelin. Lateral loops are found in the paranodal region adjacent to the nodes of Ranvier, while Schmidt-Lantermann clefts are analogous structures found within the compact myelin internode. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| myelin sheath adaxonal region | The region of the myelin sheath nearest to the axon. |
| neuron projection membrane | The portion of the plasma membrane surrounding a neuron projection. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| presynaptic active zone membrane | The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters. |
| SNARE complex | A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
| somatodendritic compartment | The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. |
| specific granule | Granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| storage vacuole | A vacuole that functions primarily in the storage of materials, including nutrients, pigments, waste products, and small molecules. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
| vacuole | A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| SNAP receptor activity | Acting as a marker to identify a membrane and interacting selectively with one or more SNAREs on another membrane to mediate membrane fusion. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
| sphingomyelin phosphodiesterase activator activity | Increases the activity of the enzyme sphingomyelin phosphodiesterase. |
24 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| cornified envelope assembly | The aggregation, arrangement and bonding together of a set of components to form a cornified envelope. |
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
| organelle fusion | The creation of a single organelle from two or more organelles. |
| positive regulation of catalytic activity | Any process that activates or increases the activity of an enzyme. |
| positive regulation of cell adhesion | Any process that activates or increases the frequency, rate or extent of cell adhesion. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of chemotaxis | Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. |
| positive regulation of eosinophil degranulation | Any process that activates or increases the frequency, rate or extent of eosinophil degranulation. |
| positive regulation of immunoglobulin production | Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. |
| positive regulation of insulin secretion involved in cellular response to glucose stimulus | Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. |
| positive regulation of protein localization to cell surface | Any process that activates or increases the frequency, rate or extent of protein localization to the cell surface. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| protein localization to cell surface | A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane. |
| regulation of exocytosis | Any process that modulates the frequency, rate or extent of exocytosis. |
| regulation of extrinsic apoptotic signaling pathway via death domain receptors | Any process that modulates the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors. |
| SNARE complex assembly | The aggregation, arrangement and bonding together of a set of components to form a SNARE complex, a protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. |
| synaptic vesicle fusion to presynaptic active zone membrane | Fusion of the membrane of a synaptic vesicle with the presynaptic active zone membrane, thereby releasing its cargo neurotransmitters into the synaptic cleft. |
| vesicle docking | The initial attachment of a transport vesicle membrane to the target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane. Docking requires only that the two membranes come close enough for these proteins to interact and adhere. |
| vesicle fusion | Fusion of the membrane of a transport vesicle with its target membrane. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32867 | SSO1 | Protein SSO1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P39926 | SSO2 | Protein SSO2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P61267 | STX1B | Syntaxin-1B | Bos taurus (Bovine) | PR |
| Q3SWZ3 | STX4 | Syntaxin-4 | Bos taurus (Bovine) | PR |
| Q7KVY7 | Syx4 | Syntaxin-4 | Drosophila melanogaster (Fruit fly) | PR |
| Q24547 | Syx1A | Syntaxin-1A | Drosophila melanogaster (Fruit fly) | PR |
| P61266 | STX1B | Syntaxin-1B | Homo sapiens (Human) | PR |
| O75558 | STX11 | Syntaxin-11 | Homo sapiens (Human) | PR |
| Q16623 | STX1A | Syntaxin-1A | Homo sapiens (Human) | PR |
| O15400 | STX7 | Syntaxin-7 | Homo sapiens (Human) | PR |
| O35526 | Stx1a | Syntaxin-1A | Mus musculus (Mouse) | PR |
| Q00262 | Stx2 | Syntaxin-2 | Mus musculus (Mouse) | PR |
| Q9D3G5 | Stx11 | Syntaxin-11 | Mus musculus (Mouse) | PR |
| P61264 | Stx1b | Syntaxin-1B | Mus musculus (Mouse) | PR |
| P70452 | Stx4 | Syntaxin-4 | Mus musculus (Mouse) | PR |
| P50279 | Stx2 | Syntaxin-2 | Rattus norvegicus (Rat) | PR |
| P61265 | Stx1b | Syntaxin-1B | Rattus norvegicus (Rat) | PR |
| P32851 | Stx1a | Syntaxin-1A | Rattus norvegicus (Rat) | PR |
| Q08850 | Stx4 | Syntaxin-4 | Rattus norvegicus (Rat) | PR |
| O16000 | unc-64 | Syntaxin-1A homolog | Caenorhabditis elegans | PR |
| Q9ZPV9 | SYP112 | Syntaxin-112 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRDRTHELRQ | GDDSSDEEDK | ERVALVVHPG | TARLGSPDEE | FFHKVRTIRQ | TIVKLGNKVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELEKQQVTIL | ATPLPEESMK | QELQNLRDEI | KQLGREIRLQ | LKAIEPQKEE | ADENYNSVNT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RMRKTQHGVL | SQQFVELINK | CNSMQSEYRE | KNVERIRRQL | KITNAGMVSD | EELEQMLDSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSEVFVSNIL | KDTQVTRQAL | NEISARHSEI | QQLERSIREL | HDIFTFLATE | VEMQGEMINR |
| 250 | 260 | 270 | 280 | 290 | |
| IEKNILSSAD | YVERGQEHVK | TALENQKKAR | KKKVLIAICV | SITVVLLAVI | IGVTVVG |