Q9H2B2
PR
Gene name |
SYT4 (KIAA1342) |
Protein name |
Synaptotagmin-4 |
Names |
Synaptotagmin IV, SytIV |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6860 |
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 Q9H2B2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UGK | NMR | - | A | 154-278 | PDB |
| AF-Q9H2B2-F1 | Predicted | AlphaFoldDB |
365 variants for Q9H2B2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000709900 rs779678442 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
CA299537666 rs1023275165 |
2 | A>P | No |
ClinGen TOPMed |
|
|
rs973500916 CA299537665 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402481172 rs1485329908 |
3 | P>T | No |
ClinGen gnomAD |
|
|
rs1208188376 CA402481160 |
5 | T>A | No |
ClinGen gnomAD |
|
|
rs769905904 CA8945288 |
5 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA402481154 rs1598666043 |
6 | T>A | No |
ClinGen Ensembl |
|
|
rs777626017 CA8945287 |
6 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8945286 rs777626017 |
6 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402481151 rs1214285484 |
7 | S>G | No |
ClinGen gnomAD |
|
|
CA8945285 rs771983776 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402481142 rs771983776 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758822400 CA299537664 |
9 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 10 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 11 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295601698 CA402481124 |
11 | F>L | No |
ClinGen gnomAD |
|
|
COSM109931 rs144828567 COSM109930 CA299537369 |
13 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs143831295 CA8945268 |
15 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA299537368 rs1023936896 |
15 | P>S | No |
ClinGen TOPMed |
|
|
rs1392584764 CA402481065 |
17 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs748067836 CA8945267 |
18 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA402481047 rs768611116 |
19 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8945265 rs768611116 |
19 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1013933896 CA299537366 |
20 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 25 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539783025 CA8945263 |
27 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161243257 CA402480981 |
27 | V>I | No |
ClinGen gnomAD |
|
|
CA8945262 rs755762401 |
28 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA402480961 rs1178154942 |
29 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs902913539 CA299537364 |
34 | A>S | No |
ClinGen gnomAD |
|
|
rs1214631527 CA402480903 |
36 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM108007 rs149079553 CA299537363 COSM108008 |
40 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8945258 rs199938369 |
45 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8945257 rs764576606 |
46 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758824478 CA8945256 |
47 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1439842988 CA402480797 |
50 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1439842988 CA402480796 |
50 | P>S | No |
ClinGen gnomAD |
|
|
CA8945255 rs753005624 |
51 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA299537362 rs1006167764 |
53 | F>S | No |
ClinGen TOPMed |
|
|
CA402480769 rs1454224267 |
54 | V>M | No |
ClinGen gnomAD |
|
|
rs1490888444 CA402480753 |
56 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 57 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760641061 CA8945250 |
60 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8945249 rs368892366 |
61 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs368892366 CA8945248 |
61 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8945247 rs200882316 |
64 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402480702 rs200882316 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769590610 CA8945245 |
67 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745580387 CA8945244 |
68 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA402480672 rs1237244357 |
68 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 68 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550328405 CA8945243 |
69 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8945242 rs756854911 |
69 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374054209 CA402480642 |
72 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370370667 CA8945239 |
74 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402480624 rs1382631936 |
75 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA402480625 rs1382631936 |
75 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 75 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568121185 CA402480617 |
76 | D>V | No |
ClinGen Ensembl |
|
|
CA8945238 rs377383007 |
77 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM563985 CA402480612 rs1296295606 COSM563984 |
77 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 82 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA299537361 rs111274253 |
82 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 83 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294310054 CA402480560 |
84 | K>* | No |
ClinGen TOPMed |
|
|
rs142365696 CA8945236 |
84 | K>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs1357688057 CA402480546 |
86 | A>D | No |
ClinGen TOPMed |
|
|
CA402480539 rs1174383510 |
87 | V>A | No |
ClinGen gnomAD |
|
|
rs1306902062 CA402480543 |
87 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402480522 rs1338476601 |
90 | N>D | No |
ClinGen gnomAD |
|
|
CA402480501 rs1477819695 |
93 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754131304 CA8945235 |
94 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs926815155 CA299537359 |
95 | D>E | No |
ClinGen Ensembl |
|
|
rs766505919 CA8945234 |
97 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1276011684 CA402480439 |
102 | N>H | No |
ClinGen gnomAD |
|
|
rs760867606 CA8945233 |
102 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8945232 rs773359100 |
103 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM473823 COSM473822 rs764157983 CA8945231 |
106 | P>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8945230 rs762934088 |
107 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8945229 rs561614749 |
108 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8945228 rs769748904 |
112 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM333303 rs769748904 COSM333302 CA402480370 |
112 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 113 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM342876 rs1471484489 CA402480369 COSM342877 |
113 | G>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1041086472 CA299537357 |
115 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA299537356 rs942782181 |
116 | S>Y | No |
ClinGen TOPMed |
|
|
rs935874291 CA299537355 |
117 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs146096223 CA8945226 |
117 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA299537354 rs935874291 |
117 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402480340 COSM1388701 COSM1388700 rs1276120980 |
118 | L>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA402480327 rs1416506316 |
120 | N>D | No |
ClinGen gnomAD |
|
|
CA402480319 rs376231883 |
121 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA299537353 rs376231883 |
121 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8945225 rs373100677 |
122 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373100677 CA402480311 COSM1303737 COSM1303736 |
122 | T>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA299537352 rs867037750 |
123 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8945224 rs746536919 |
123 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8945222 rs748705825 CA8945221 |
124 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1423330914 CA402480297 |
125 | L>F | No |
ClinGen gnomAD |
|
|
rs779362636 CA8945220 |
125 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1258903246 CA402480294 |
126 | F>I | No |
ClinGen gnomAD |
|
|
rs1186156820 CA402480283 |
127 | L>S | No |
ClinGen gnomAD |
|
|
CA8945219 rs374289524 |
129 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754139995 CA8945218 |
130 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM106920 rs138236935 COSM106919 CA299537351 |
130 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA402480246 rs1234968446 |
132 | E>D | No |
ClinGen gnomAD |
|
|
rs750552617 CA8945215 |
132 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761951128 CA8945214 |
133 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402480242 rs1283530237 |
133 | S>L | No |
ClinGen gnomAD |
|
|
rs761951128 CA8945213 |
133 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8945212 rs752746360 |
134 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA402480238 rs752746360 |
134 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA8945211 rs368827453 COSM1750519 COSM1750518 |
136 | P>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA402480219 rs1346434260 |
137 | E>D | No |
ClinGen TOPMed |
|
|
CA402480214 rs1392148619 |
138 | S>N | No |
ClinGen gnomAD |
|
|
rs1399933616 CA402480207 |
139 | L>S | No |
ClinGen gnomAD |
|
|
CA402480195 rs1234656164 |
140 | K>N | No |
ClinGen TOPMed |
|
|
rs759385299 CA8945210 |
141 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs16977447 CA8945208 VAR_052239 |
142 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs16977447 CA8945209 |
142 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772831820 CA402480170 |
145 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402480169 rs1472122590 |
145 | L>P | No |
ClinGen gnomAD |
|
|
rs772831820 CA8945206 |
145 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771612590 CA8945205 |
146 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8945204 rs747653584 |
148 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs992930830 CA299537350 |
148 | E>D | No |
ClinGen TOPMed |
|
|
rs1181984421 CA402480155 |
148 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402480129 rs1598664714 |
151 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 152 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402480100 rs1189334422 |
155 | G>A | No |
ClinGen TOPMed |
|
|
CA299537349 rs779455783 |
157 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779455783 CA8945203 |
157 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335268498 CA402480082 |
158 | F>L | No |
ClinGen gnomAD |
|
|
CA402480067 rs1453860055 |
160 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM296336 rs1598664692 COSM296337 CA402480053 |
162 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA402480057 rs1174555229 |
162 | E>K | No |
ClinGen TOPMed |
|
|
CA402480050 rs1397087074 |
163 | Y>H | No |
ClinGen TOPMed |
|
|
rs768986710 CA8945202 |
164 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs141781369 CA8945200 RCV000973576 |
165 | F>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8945199 rs376423172 |
166 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402480022 rs1369680948 |
167 | R>G | No |
ClinGen TOPMed |
|
|
CA8945198 rs200418581 RCV000896917 |
169 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 171 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM473820 COSM473821 rs781556826 CA8945197 |
172 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1213571489 CA402479981 |
173 | N>D | No |
ClinGen TOPMed |
|
|
rs1273457282 CA402479969 |
174 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 174 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757467372 CA8945196 |
175 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754098951 CA8945194 |
178 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759355306 CA402479945 |
178 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759355306 CA8945193 |
178 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs760433035 CA8945190 |
183 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8945189 rs772916772 |
183 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402479882 rs1234719851 |
187 | S>L | No |
ClinGen gnomAD |
|
|
CA8945187 rs373863000 |
188 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766740175 CA299537345 |
188 | M>T | No |
ClinGen Ensembl |
|
|
rs773694757 CA8945186 |
189 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA402479857 rs889876678 |
191 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8945184 rs369219683 |
194 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402479834 rs1274611615 |
195 | K>E | No |
ClinGen gnomAD |
|
|
rs776032270 CA8945183 |
197 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1205265773 CA402479812 |
198 | I>V | No |
ClinGen gnomAD |
|
|
rs1163349555 CA402479804 |
199 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 201 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402479779 rs1462387385 |
202 | K>N | No |
ClinGen TOPMed |
|
| rs1358051088 | 203 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146977783 CA402479767 |
204 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146977783 CA8945178 |
204 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402479762 rs1454444513 |
205 | K>E | No |
ClinGen gnomAD |
|
|
CA402479750 rs1424101548 |
206 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 210 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 211 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 212 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758485615 CA8945176 |
212 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA402479698 rs1335418770 |
214 | T>S | No |
ClinGen TOPMed |
|
|
rs755963487 CA8945174 |
215 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1283962790 CA402479688 |
216 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8945172 rs141366384 |
218 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8945171 rs767161445 |
219 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs761405529 CA8945170 |
220 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402479651 rs1217157755 |
221 | E>G | No |
ClinGen gnomAD |
|
|
rs756734369 CA299537342 |
222 | T>I | No |
ClinGen gnomAD |
|
|
CA402479644 rs756734369 |
222 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762518028 CA8945167 |
226 | Y>* | No |
ClinGen ExAC |
|
|
CA8945168 rs763550147 |
226 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775916173 CA8945166 |
228 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA299537339 rs112251857 |
228 | I>T | No |
ClinGen gnomAD |
|
|
CA8945165 rs138702438 |
229 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8945164 rs746235891 |
231 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1411403588 CA402479583 |
232 | Q>E | No |
ClinGen gnomAD |
|
|
rs777099785 CA299537336 |
232 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909245152 CA299537337 |
232 | Q>R | No |
ClinGen Ensembl |
|
|
rs771305461 CA8945162 |
235 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402479546 rs1259544223 |
237 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1417528275 CA402479550 |
237 | A>T | No |
ClinGen TOPMed |
|
|
CA402479545 rs1259544223 |
237 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764911645 CA299537335 |
239 | H>P | No |
ClinGen Ensembl |
|
|
rs764911645 CA299537334 |
239 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8945160 rs778028277 |
241 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402479518 rs758476619 |
242 | I>L | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 242 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8945159 rs758476619 |
242 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA402479485 rs1399597227 |
246 | D>G | No |
ClinGen TOPMed |
|
|
CA402479484 rs1399597227 |
246 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483637901 CA402479480 |
247 | R>G | No |
ClinGen gnomAD |
|
|
rs1376728755 CA402479479 |
247 | R>K | No |
ClinGen gnomAD |
|
|
CA402479481 rs1483637901 |
247 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748247817 CA8945158 |
252 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs748247817 CA402479444 |
252 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779869026 CA8945157 |
253 | I>N | No |
ClinGen ExAC |
|
|
rs958575491 CA402479422 |
255 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs958575491 CA299537333 |
255 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA402479403 rs755980080 |
258 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8945156 rs755980080 |
258 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA402479401 rs1316533800 |
259 | I>V | No |
ClinGen gnomAD |
|
|
rs868695980 CA299537331 |
260 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750239570 CA8945155 |
261 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs143090156 CA8945153 |
262 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8945154 rs143090156 |
262 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs967204421 CA299537329 |
264 | I>V | No |
ClinGen gnomAD |
|
|
rs868800562 CA299537328 |
265 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8945151 rs763786528 |
266 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs762381648 CA8945150 |
266 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1598664519 CA402479354 |
267 | S>Y | No |
ClinGen Ensembl |
|
|
rs752181104 CA8945149 |
268 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1720628 rs765872177 CA8945148 COSM1720629 |
269 | G>E | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8945147 rs760074442 |
271 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8945143 rs773365817 |
273 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771464914 CA299537326 |
273 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8945144 rs761099730 |
273 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8945145 rs771464914 |
273 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198339844 CA402479310 |
274 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA299537325 rs1020328321 |
277 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 279 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275545863 CA402479265 |
280 | R>K | No |
ClinGen gnomAD |
|
|
CA8945141 rs376265363 |
281 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376265363 CA402479260 |
281 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1568120888 CA402479253 |
282 | V>I | No |
ClinGen Ensembl |
|
|
rs1208923002 CA402479245 |
283 | R>K | No |
ClinGen TOPMed |
|
|
rs201474652 CA8945117 CA8945118 |
287 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978828343 CA402479204 |
288 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1480327 CA299537135 rs978828343 COSM1480328 |
288 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746807490 CA8945116 |
288 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777571572 CA8945115 |
293 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8945110 rs754596440 |
297 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402479148 rs754596440 |
297 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299537132 rs754596440 |
297 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402479130 rs1177194974 |
300 | T>A | No |
ClinGen TOPMed |
|
|
rs1256233053 CA402479113 |
302 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA402479095 rs1232208830 |
305 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402479085 rs1329159879 |
307 | V>A | No |
ClinGen gnomAD |
|
|
CA8945109 rs753342787 |
307 | V>I | No |
ClinGen ExAC |
|
|
rs1297521556 CA402479065 |
310 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297589440 CA402479048 |
313 | H>P | No |
ClinGen gnomAD |
|
|
CA8945107 rs756604589 |
313 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3717907 CA402479050 rs1339842154 COSM3717908 |
313 | H>Y | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750776931 CA8945106 |
316 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA402479033 rs750776931 |
316 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8945105 rs767964125 |
318 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1460866073 CA402479011 |
319 | V>L | No |
ClinGen TOPMed |
|
|
CA402478999 rs1263119882 |
321 | G>E | No |
ClinGen gnomAD |
|
|
CA299537131 rs768842434 |
321 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8945102 rs764241515 |
322 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8945080 rs542355036 |
327 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8945079 rs183582515 |
330 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402478924 rs1329783966 |
331 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8945078 rs747962953 |
332 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1315941788 CA402478901 |
334 | A>D | No |
ClinGen TOPMed |
|
|
CA402478897 rs1392159274 |
335 | K>E | No |
ClinGen gnomAD |
|
|
CA402478894 rs1216896514 |
335 | K>R | No |
ClinGen TOPMed |
|
|
CA299537014 rs1008007587 |
337 | R>T | No |
ClinGen gnomAD |
|
|
CA8945075 rs748999170 |
346 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs748999170 CA402478819 |
346 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402478800 rs1223567540 |
348 | C>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 351 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA299537012 rs745806761 |
352 | A>S | No |
ClinGen gnomAD |
|
|
CA402478776 rs745806761 |
352 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402478736 rs1311622272 |
358 | F>I | No |
ClinGen gnomAD |
|
|
CA8945073 rs755706111 |
359 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1215532456 CA402478727 |
359 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 360 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376531129 CA402478715 |
361 | D>N | No |
ClinGen gnomAD |
|
|
rs1350828692 CA402478706 |
362 | I>V | No |
ClinGen gnomAD |
|
|
CA402478694 rs1278138183 |
363 | P>L | No |
ClinGen gnomAD |
|
|
CA8945071 rs781724007 |
364 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA402478688 rs1332136907 |
364 | C>W | No |
ClinGen gnomAD |
|
|
rs781724007 CA8945072 |
364 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200766031 CA402478661 |
368 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402478667 rs1361858651 |
368 | E>K | No |
ClinGen gnomAD |
|
|
rs778157794 CA8945068 |
369 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM369948 COSM369947 CA402478647 rs1293256717 |
370 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 371 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477096037 CA402478640 |
371 | S>N | No |
ClinGen TOPMed |
|
|
CA8945066 rs753033454 |
373 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8945065 rs765369055 |
374 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA402478573 rs1246008597 |
381 | R>K | No |
ClinGen gnomAD |
|
|
rs1196640210 CA402478570 CA402478569 |
381 | R>S | No |
ClinGen gnomAD |
|
|
rs1568120185 CA629671244 |
382 | G>* | No |
ClinGen Ensembl |
|
|
CA8945064 rs759679521 |
383 | S>C | No |
ClinGen ExAC |
|
| TCGA novel | 383 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402478554 COSM3525812 COSM3525811 rs149020215 |
384 | R>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8945062 COSM110258 rs149020215 COSM110257 |
384 | R>Q | skin central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1030351640 CA299537010 |
385 | N>S | No |
ClinGen TOPMed |
|
|
CA8945060 rs374809200 |
387 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs141229823 CA8945061 |
387 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402478537 rs141229823 |
387 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768637700 CA8945059 |
388 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA299537009 rs1043315783 |
389 | G>R | No |
ClinGen Ensembl |
|
|
rs370874905 CA299537008 |
390 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1312649033 CA402478497 |
393 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs149891260 CA8945056 |
394 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780514897 CA8945054 |
396 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8945053 rs770402796 |
397 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA402478472 rs1414732897 |
398 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747551292 CA8945052 |
399 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778251943 CA8945051 |
400 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1304675793 CA402478455 |
401 | G>R | No |
ClinGen TOPMed |
|
|
rs752951186 CA8945049 |
402 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758822458 CA8945050 |
402 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8945048 rs779204383 |
407 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM988352 CA402478414 COSM988353 rs1399249030 |
407 | E>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1240477854 CA402478405 |
408 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313064116 CA402478399 |
409 | C>R | No |
ClinGen gnomAD |
|
|
rs755116039 CA8945047 |
409 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753973553 CA8945046 |
410 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402478389 rs753973553 |
410 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766617019 CA8945045 |
411 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs766617019 CA402478383 |
411 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA402478378 rs1288031426 |
412 | P>A | No |
ClinGen TOPMed |
|
|
rs1217434631 CA402478375 |
412 | P>R | No |
ClinGen gnomAD |
|
|
CA8945042 rs764063961 |
415 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA402478357 rs1321297593 |
415 | Q>P | No |
ClinGen TOPMed |
|
|
rs199742249 CA299537006 |
416 | I>T | No |
ClinGen Ensembl |
|
|
CA402478346 rs1598663280 |
417 | A>T | No |
ClinGen Ensembl |
|
|
CA402478321 rs1358280146 |
420 | H>N | No |
ClinGen gnomAD |
|
|
CA402478316 rs762810780 |
420 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 421 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775106428 COSM1711223 CA8945040 COSM1711224 |
421 | V>M | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA402478308 rs1424187237 |
422 | L>F | No |
ClinGen gnomAD |
|
|
CA402478300 rs1169841304 |
423 | C>S | No |
ClinGen gnomAD |
|
|
rs1487634590 CA402478294 |
424 | D>Y | No |
ClinGen TOPMed |
|
|
CA8945039 rs769505260 |
425 | G>D | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H2B2
6 regional properties for Q9H2B2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 153 - 274 | IPR000008-1 |
| domain | C2 domain | 287 - 420 | IPR000008-2 |
| domain | Synaptotagmin | 157 - 172 | IPR001565-1 |
| domain | Synaptotagmin | 172 - 185 | IPR001565-2 |
| domain | Synaptotagmin | 229 - 244 | IPR001565-3 |
| domain | Synaptotagmin | 249 - 259 | IPR001565-4 |
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| astrocyte projection | A prolongation or process extending from the soma of an astrocyte and wrapping around neurons. |
| 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. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| dense core granule membrane | The lipid bilayer surrounding a dense core granule. |
| exocytic vesicle | A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of Golgi membrane | The component of the Golgi 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. |
| integral component of neuronal dense core vesicle membrane | The component of the neuronal dense core vesicle 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. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle 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. |
| microvesicle | An extracellular vesicle released from the plasma membrane and ranging in size from about 100 nm to 1000 nm. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| neuronal dense core vesicle | A dense core vesicle (granule) that is part of a neuron. These vesicles typically contain neuropeptides. They can be found in all parts of neurons, including the soma, dendrites, axonal swellings (varicosities) and synaptic terminals. |
| 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. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
24 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium-ion regulated exocytosis | The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to calcium ion | 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 a calcium ion stimulus. |
| dense core granule cytoskeletal transport | The directed movement of dense core granules along cytoskeletal fibers, such as microtubules or actin filaments. |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| negative regulation of calcium ion-dependent exocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of calcium ion-dependent exocytosis. |
| negative regulation of catecholamine secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. |
| negative regulation of protein secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. |
| negative regulation of retrograde trans-synaptic signaling by neuropeptide | Any process that stops, prevents or reduces the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. |
| negative regulation of short-term neuronal synaptic plasticity | A process that decreases short-term neuronal synaptic plasticity, the ability of neuronal synapses to change in the short-term as circumstances require. Short-term neuronal synaptic plasticity generally involves increasing or decreasing synaptic sensitivity. |
| negative regulation of synaptic vesicle exocytosis | Any process that stops, prevents or reduces the frequency, rate or extent of synaptic vesicle exocytosis. |
| neurotransmitter secretion | The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission. |
| positive regulation of calcium ion-dependent exocytosis | Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| positive regulation of dense core granule exocytosis | Any process that activates or increases the frequency, rate or extent of dense core granule exocytosis. |
| positive regulation of glutamate secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. |
| regulation of calcium ion-dependent exocytosis | Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| regulation of endocytosis | Any process that modulates the frequency, rate or extent of endocytosis. |
| regulation of presynaptic dense core granule exocytosis | Any process that modulates the frequency, rate or extent of presynaptic dense core granule exocytosis. |
| regulation of vesicle fusion | Any process that modulates the frequency, rate or extent of vesicle fusion. |
| trans-synaptic signaling by BDNF, modulating synaptic transmission | Cell-cell signaling between presynapse and postsynapse, via the vesicular release and reception of brain derived neurotrophic factor (BDNF), that modulates the synaptic transmission properties of the synapse. |
| vesicle fusion | Fusion of the membrane of a transport vesicle with its target membrane. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48018 | SYT1 | Synaptotagmin-1 | Bos taurus (Bovine) | PR |
| P21521 | Syt1 | Synaptotagmin 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XP0 | PLA2G4D | Cytosolic phospholipase A2 delta | Homo sapiens (Human) | PR |
| Q9HCH5 | SYTL2 | Synaptotagmin-like protein 2 | Homo sapiens (Human) | PR |
| Q96C24 | SYTL4 | Synaptotagmin-like protein 4 | Homo sapiens (Human) | PR |
| Q8N9U0 | TC2N | Tandem C2 domains nuclear protein | Homo sapiens (Human) | PR |
| Q8TDW5 | SYTL5 | Synaptotagmin-like protein 5 | Homo sapiens (Human) | PR |
| Q8IYJ3 | SYTL1 | Synaptotagmin-like protein 1 | Homo sapiens (Human) | PR |
| Q9BQG1 | SYT3 | Synaptotagmin-3 | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| O00445 | SYT5 | Synaptotagmin-5 | Homo sapiens (Human) | PR |
| P21579 | SYT1 | Synaptotagmin-1 | Homo sapiens (Human) | PR |
| Q9BT88 | SYT11 | Synaptotagmin-11 | Homo sapiens (Human) | PR |
| O43581 | SYT7 | Synaptotagmin-7 | Homo sapiens (Human) | PR |
| Q9BQS2 | SYT15 | Synaptotagmin-15 | Homo sapiens (Human) | PR |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q6XYQ8 | SYT10 | Synaptotagmin-10 | Homo sapiens (Human) | PR |
| Q5T7P8 | SYT6 | Synaptotagmin-6 | Homo sapiens (Human) | PR |
| Q9EQT6 | Syt13 | Synaptotagmin-13 | Mus musculus (Mouse) | PR |
| Q9R0N4 | Syt10 | Synaptotagmin-10 | Mus musculus (Mouse) | PR |
| Q99N80 | Sytl1 | Synaptotagmin-like protein 1 | Mus musculus (Mouse) | PR |
| Q9R0Q1 | Sytl4 | Synaptotagmin-like protein 4 | Mus musculus (Mouse) | PR |
| Q8C6N3 | Syt15 | Synaptotagmin-15 | Mus musculus (Mouse) | PR |
| Q920N7 | Syt12 | Synaptotagmin-12 | Mus musculus (Mouse) | PR |
| Q80T23 | Sytl5 | Synaptotagmin-like protein 5 | Mus musculus (Mouse) | PR |
| Q9R0N5 | Syt5 | Synaptotagmin-5 | Mus musculus (Mouse) | PR |
| Q9R0N9 | Syt9 | Synaptotagmin-9 | Mus musculus (Mouse) | PR |
| Q9R0N8 | Syt6 | Synaptotagmin-6 | Mus musculus (Mouse) | PR |
| Q50L43 | Pla2g4d | Cytosolic phospholipase A2 delta | Mus musculus (Mouse) | PR |
| P46096 | Syt1 | Synaptotagmin-1 | Mus musculus (Mouse) | PR |
| Q9R0N3 | Syt11 | Synaptotagmin-11 | Mus musculus (Mouse) | PR |
| O35681 | Syt3 | Synaptotagmin-3 | Mus musculus (Mouse) | PR |
| P46097 | Syt2 | Synaptotagmin-2 | Mus musculus (Mouse) | PR |
| Q91XT6 | Tc2n | Tandem C2 domains nuclear protein | Mus musculus (Mouse) | PR |
| P40749 | Syt4 | Synaptotagmin-4 | Mus musculus (Mouse) | PR |
| Q812E4 | Sytl5 | Synaptotagmin-like protein 5 | Rattus norvegicus (Rat) | PR |
| Q925B5 | Syt13 | Synaptotagmin-13 | Rattus norvegicus (Rat) | PR |
| O08625 | Syt10 | Synaptotagmin-10 | Rattus norvegicus (Rat) | PR |
| P47861 | Syt5 | Synaptotagmin-5 | Rattus norvegicus (Rat) | PR |
| Q62746 | Syt6 | Synaptotagmin-6 | Rattus norvegicus (Rat) | PR |
| P97610 | Syt12 | Synaptotagmin-12 | Rattus norvegicus (Rat) | PR |
| P40748 | Syt3 | Synaptotagmin-3 | Rattus norvegicus (Rat) | PR |
| Q925C0 | Syt9 | Synaptotagmin-9 | Rattus norvegicus (Rat) | PR |
| P59926 | Syt15 | Synaptotagmin-15 | Rattus norvegicus (Rat) | PR |
| P21707 | Syt1 | Synaptotagmin-1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPITTSREE | FDEIPTVVGI | FSAFGLVFTV | SLFAWICCQR | KSSKSNKTPP | YKFVHVLKGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DIYPENLNSK | KKFGADDKNE | VKNKPAVPKN | SLHLDLEKRD | LNGNFPKTNL | KPGSPSDLEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATPKLFLEGE | KESVSPESLK | SSTSLTSEEK | QEKLGTLFFS | LEYNFERKAF | VVNIKEARGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PAMDEQSMTS | DPYIKMTILP | EKKHKVKTRV | LRKTLDPAFD | ETFTFYGIPY | TQIQELALHF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TILSFDRFSR | DDIIGEVLIP | LSGIELSEGK | MLMNREIIKR | NVRKSSGRGE | LLISLCYQST |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNTLTVVVLK | ARHLPKSDVS | GLSDPYVKVN | LYHAKKRISK | KKTHVKKCTP | NAVFNELFVF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DIPCEGLEDI | SVEFLVLDSE | RGSRNEVIGQ | LVLGAAAEGT | GGEHWKEICD | YPRRQIAKWH |
| VLCDG |