O95292
PR
Gene name |
VAPB (UNQ484/PRO983) |
Protein name |
Vesicle-associated membrane protein-associated protein B/C |
Names |
VAMP-B/VAMP-C, VAMP-associated protein B/C, VAP-B/VAP-C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9217 |
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
3 structures for O95292
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2MDK | NMR | - | A | 1-125 | PDB |
| 3IKK | X-ray | 250 A | A/B | 1-125 | PDB |
| AF-O95292-F1 | Predicted | AlphaFoldDB |
178 variants for O95292
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9924137 RCV002254592 rs748371538 |
5 | E>G | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1987730075 RCV002254618 RCV001531355 |
12 | P>L | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002254595 rs1431840351 CA409439970 |
12 | P>S | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002254563 CA409442392 rs1456089445 |
35 | P>L | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9924174 RCV002254571 rs781691837 |
37 | D>E | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA219846 rs281875284 VAR_067964 RCV000023467 RCV000059634 |
46 | T>I | Amyotrophic lateral sclerosis type 8 ALS8; it forms insoluble cytosolic aggregates; cannot activate the UPR pathway through ERN1/IRE1 induction; results in ubiquitinated aggregates accumulation and cell death [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059635 rs74315431 RCV002254541 VAR_026743 RCV002254542 RCV000005073 CA117096 |
56 | P>S | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 ALS8 and SMAPAD; it forms insoluble cytosolic aggregates; cannot activate the UPR pathway; affects interaction with RMDN3; affects cellular calcium homeostasis; induces mislocalization to the non-ER compartments; enhances homodimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1555813002 CA409442780 RCV002254560 |
65 | A>V | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772975721 RCV002422799 CA9924187 RCV002254578 |
67 | I>V | Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002254561 rs752091117 CA9924211 RCV001138759 RCV001138758 |
97 | T>A | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002254600 RCV001141336 RCV001141335 CA409439272 rs1295445556 |
104 | A>T | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000348929 rs777316448 RCV002323548 RCV002254546 RCV000312731 CA9924233 |
111 | P>L | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002254544 RCV000403252 RCV000314779 RCV002374418 RCV000244932 CA9924242 RCV001573916 rs146459055 |
130 | D>E | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA409439558 RCV002254616 rs1392475929 |
141 | I>V | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002254596 rs1989146263 |
151 | P>S | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1362788253 CA409439634 RCV002254608 |
153 | V>M | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002338940 RCV001289412 RCV000260698 rs566283411 RCV000353224 RCV002254547 RCV001653641 |
160 | S>missing | Amyotrophic Lateral Sclerosis, Dominant Spinal Muscular Atrophy, Dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA409439684 RCV002254562 rs1555815825 |
161 | L>S | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3713329 rs772254840 CA9924271 RCV003147532 RCV002254567 |
165 | E>K | upper_aerodigestive_tract Amyotrophic lateral sclerosis type 8 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9924272 rs538630783 RCV002254559 |
166 | V>I | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002254594 rs774643393 CA9924274 |
168 | K>E | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000990320 rs143144050 RCV002254554 RCV001579802 CA9924276 RCV002341333 RCV001143187 |
170 | M>I | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1989148708 RCV002254635 |
173 | C>Y | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002254569 CA409439822 RCV002343494 rs1568720020 |
182 | R>K | Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9924281 RCV002254550 RCV002350144 RCV000518325 rs145483046 |
184 | R>Q | Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002254638 CA9924317 rs376121617 |
208 | I>V | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1989221617 RCV002254633 |
212 | A>D | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1989222522 RCV002254602 |
219 | G>R | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002254543 RCV000171347 CA236153 rs786205553 RCV000514140 |
219 | G>V | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA409440294 RCV002254574 rs763755820 |
223 | R>P | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000516581 RCV002367723 rs144718603 RCV001143188 RCV001143189 CA9924325 RCV002254551 |
223 | R>W | Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA409440303 RCV002254575 rs1439925669 |
225 | L>S | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA409440330 rs1600821730 RCV002254576 |
230 | L>V | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002254558 rs1555816248 CA409440375 |
237 | I>V | Amyotrophic lateral sclerosis type 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA409439912 rs1410987061 |
3 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768972128 CA9924135 |
4 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs777026649 CA9924136 |
5 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9924138 rs770013348 |
6 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9924139 rs773426656 |
6 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773426656 CA409439933 |
6 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555809983 CA409439938 |
7 | V>F | No |
ClinGen Ensembl |
|
|
CA9924141 rs766551604 |
9 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs760656837 CA9924143 |
13 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA409439990 rs886340297 |
15 | E>K | No |
ClinGen gnomAD |
|
|
CA316271638 rs886340297 |
15 | E>Q | No |
ClinGen gnomAD |
|
|
CA9924144 rs763843795 |
17 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1370343198 CA409440005 |
17 | K>R | No |
ClinGen gnomAD |
|
|
CA409440021 rs1430759621 |
19 | R>L | No |
ClinGen gnomAD |
|
|
CA409442247 rs1188496875 |
23 | T>A | No |
ClinGen gnomAD |
|
|
rs113533827 CA316295615 |
23 | T>I | No |
ClinGen Ensembl |
|
|
CA9924170 COSM1028449 rs758038085 |
24 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA409442287 rs1306018183 |
26 | V>A | No |
ClinGen TOPMed |
|
|
rs1293144080 CA409442323 |
29 | N>T | No |
ClinGen TOPMed |
|
|
CA316295617 rs989909629 |
31 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA409442385 rs1325217602 |
35 | P>S | No |
ClinGen TOPMed |
|
|
CA9924173 rs755474083 |
37 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs376628127 CA9924172 |
37 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs995683399 CA316295646 COSM1028450 |
38 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs748583918 CA409442441 |
39 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409442453 rs1461137391 |
40 | V>A | No |
ClinGen TOPMed |
|
|
CA409442446 rs1325638209 |
40 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157908324 CA409442479 |
42 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756543452 CA9924177 |
48 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA409442556 rs1371025436 |
49 | P>S | No |
ClinGen TOPMed |
|
|
rs778280109 CA9924178 |
50 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749580878 CA9924180 |
52 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9924181 rs779138687 |
53 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574481743 CA9924185 |
62 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1410589275 CA409442743 |
62 | D>V | No |
ClinGen gnomAD |
|
|
CA409442770 rs1400743434 |
65 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9924186 rs769640841 |
66 | S>* | No |
ClinGen ExAC |
|
|
rs1303604452 CA409442828 |
69 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 69 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9924188 rs762603323 |
70 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA409439039 rs1378516349 |
72 | M>L | No |
ClinGen gnomAD |
|
|
rs548727806 CA9924207 |
76 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9924208 rs200276908 |
77 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409439086 rs1475473253 |
78 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 81 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409439120 rs1204954764 |
83 | K>E | No |
ClinGen gnomAD |
|
|
CA409439169 rs1244452129 |
89 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1208617952 CA409439176 |
90 | V>I | No |
ClinGen gnomAD |
|
|
rs570273544 CA9924210 |
93 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
TCGA novel CA409439198 rs1443403362 |
93 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
| TCGA novel | 94 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409439213 rs1386657676 |
95 | A>S | No |
ClinGen gnomAD |
|
|
CA316270727 rs371392481 |
95 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs761270333 CA9924212 |
99 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs764656858 CA409439248 |
101 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs764656858 CA9924213 |
101 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754277338 CA9924214 |
102 | M>T | No |
ClinGen ExAC |
|
|
rs1332045270 CA409439255 |
102 | M>V | No |
ClinGen gnomAD |
|
|
CA316270746 rs892229610 |
105 | V>I | No |
ClinGen TOPMed |
|
|
CA409439302 rs1381873650 |
106 | W>* | No |
ClinGen gnomAD |
|
|
rs562837579 CA9924235 |
112 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9924236 rs750693191 |
113 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377121820 CA9924237 |
114 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs939423518 CA316274105 |
120 | R>G | No |
ClinGen Ensembl |
|
|
rs1315548059 CA409439408 |
122 | V>M | No |
ClinGen TOPMed |
|
|
CA9924240 rs755094802 |
125 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409439460 rs1248787151 |
129 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778667587 CA9924261 |
134 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409439533 rs1306743589 |
137 | I>M | No |
ClinGen gnomAD |
|
|
rs1600818279 CA409439543 |
139 | K>E | No |
ClinGen Ensembl |
|
|
rs367896794 CA9924262 |
144 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs925000894 CA316275865 |
145 | A>V | No |
ClinGen Ensembl |
|
|
CA409439591 rs1336955800 |
146 | S>L | No |
ClinGen gnomAD |
|
|
CA409439602 rs1243321032 |
148 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372101774 CA9924263 |
152 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1362788253 CA409439633 |
153 | V>L | No |
ClinGen TOPMed |
|
|
rs1359912035 CA409439659 |
157 | L>V | No |
ClinGen gnomAD |
|
|
rs1568719949 CA409439665 |
158 | S>N | No |
ClinGen Ensembl |
|
|
rs773800478 CA316275881 |
158 | S>R | No |
ClinGen TOPMed |
|
|
CA9924266 rs746716055 |
159 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780851496 CA9924268 |
162 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9924267 rs768362290 |
162 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA316275904 rs892724485 |
163 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs747617543 CA9924269 |
164 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771259731 CA9924273 |
167 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA409439721 rs1450637787 |
167 | K>R | No |
ClinGen gnomAD |
|
|
rs889196220 CA316275956 |
168 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9924275 rs759760356 |
169 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316275976 rs759760356 |
169 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316275989 rs574879541 |
171 | E>V | No |
ClinGen Ensembl |
|
|
rs1300346512 CA409439750 |
172 | E>K | No |
ClinGen gnomAD |
|
|
CA409439766 rs1600818438 |
174 | K>Q | No |
ClinGen Ensembl |
|
|
rs1279505552 CA409439778 |
175 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1039112226 CA316275993 |
178 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 179 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409439804 rs1335460635 |
179 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760717241 CA9924278 |
181 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA409439830 rs1419422675 |
183 | L>P | No |
ClinGen TOPMed |
|
|
rs145483046 CA9924282 |
184 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9924280 rs750394268 COSM1028452 |
184 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462436927 CA409439847 |
186 | E>G | No |
ClinGen gnomAD |
|
|
rs1228073172 CA409439862 |
188 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1228073172 CA409439863 |
188 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 189 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409439887 rs1478963107 |
191 | K>R | No |
ClinGen TOPMed |
|
|
CA409439885 rs1478963107 |
191 | K>T | No |
ClinGen TOPMed |
|
|
CA409440045 rs1344290136 |
192 | E>D | No |
ClinGen gnomAD |
|
|
rs1252954619 CA409440078 |
196 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 197 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371134278 CA316278618 |
197 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs777156361 CA9924309 |
198 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9924311 rs757786343 |
201 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996848558 CA316278666 |
201 | T>I | No |
ClinGen gnomAD |
|
|
CA409440116 rs757786343 |
201 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746344958 CA9924313 |
203 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA9924314 rs746344958 |
203 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs775909784 CA9924315 |
205 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA409440167 rs1218196719 |
207 | P>R | No |
ClinGen gnomAD |
|
|
rs1317822478 CA409440164 |
207 | P>S | No |
ClinGen gnomAD |
|
|
rs1600821615 CA409440178 |
208 | I>M | No |
ClinGen Ensembl |
|
|
rs761901183 CA9924319 |
214 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA409440224 rs1271622919 |
214 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765382321 CA9924320 CA9924321 |
215 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA409440265 rs786205553 |
219 | G>D | No |
ClinGen gnomAD |
|
|
CA9924324 rs142370781 |
220 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763755820 CA9924326 |
223 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753411071 CA9924327 |
224 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756801275 CA9924328 |
226 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409196940 CA409440319 |
228 | V>L | No |
ClinGen TOPMed |
|
|
CA409440339 rs1568721607 |
231 | F>C | No |
ClinGen Ensembl |
|
|
rs1225692453 CA409440337 |
231 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9924332 rs780285597 |
234 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1028453 CA9924331 rs149215094 |
234 | V>I | Variant assessed as Somatic; 0.0001386 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 240 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547047347 CA9924334 |
240 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 241 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA316278790 rs961882650 |
241 | I>T | No |
ClinGen Ensembl |
2 associated diseases with O95292
[MIM: 608627]: Amyotrophic lateral sclerosis 8 (ALS8)
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:15372378, ECO:0000269|PubMed:16891305, ECO:0000269|PubMed:20940299, ECO:0000269|PubMed:22131369}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 182980]: Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD)
A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. {ECO:0000269|PubMed:15372378}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:15372378, ECO:0000269|PubMed:16891305, ECO:0000269|PubMed:20940299, ECO:0000269|PubMed:22131369}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. {ECO:0000269|PubMed:15372378}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O95292
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major sperm protein (MSP) domain | 7 - 124 | IPR000535 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| beta-tubulin binding | Binding to the microtubule constituent protein beta-tubulin. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| FFAT motif binding | Binding to a FFAT motif, a short motif containing diphenylalanine in an acidic tract that targets proteins to the cytosolic surface of the ER and to the nuclear membrane by binding directly to members of the VAP (VAMP-associated protein) protein family. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| COPII-coated vesicle budding | The evagination of an endoplasmic reticulum membrane, resulting in formation of a COPII-coated vesicle. |
| endoplasmic reticulum membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an endoplasmic reticulum membrane. |
| endoplasmic reticulum organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum. |
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| endoplasmic reticulum-plasma membrane tethering | The attachment of an endoplasmic reticulum membrane to the plasma membrane via molecular tethers. |
| IRE1-mediated unfolded protein response | The series of molecular signals mediated by the endoplasmic reticulum stress sensor IRE1 (Inositol-requiring transmembrane kinase/endonuclease). Begins with activation of IRE1 in response to endoplasmic reticulum (ER) stress, and ends with regulation of a downstream cellular process, e.g. transcription. One target of activated IRE1 is the transcription factor HAC1 in yeast, or XBP1 in mammals; IRE1 cleaves an intron of a mRNA coding for HAC1/XBP1 to generate an activated HAC1/XBP1 transcription factor, which controls the up regulation of UPR-related genes. At least in mammals, IRE1 can also signal through additional intracellular pathways including JNK and NF-kappaB. |
| modulation by host of viral RNA genome replication | A process in which a host organism modulates the frequency, rate or extent of viral RNA genome replication. |
| negative regulation by host of viral genome replication | A process in which a host organism stops, prevents or reduces the frequency, rate or extent of viral genome replication. |
| negative regulation by virus of viral protein levels in host cell | Any process where the infecting virus reduces the levels of viral proteins in a cell. |
| positive regulation by host of viral genome replication | A process in which a host organism activates or increases the frequency, rate or extent of viral genome replication. |
| positive regulation of viral genome replication | Any process that activates or increases the frequency, rate or extent of viral genome replication. |
| suppression of viral release by host | A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells. |
| viral release from host cell | The dissemination of mature viral particles from the host cell, e.g. by cell lysis or the budding of virus particles from the cell membrane. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2T9W7 | MOSPD1 | Motile sperm domain-containing protein 1 | Bos taurus (Bovine) | PR |
| A2VDZ9 | VAPB | Vesicle-associated membrane protein-associated protein B | Bos taurus (Bovine) | PR |
| Q8VEL0 | Mospd1 | Motile sperm domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q9QY76 | Vapb | Vesicle-associated membrane protein-associated protein B | Mus musculus (Mouse) | PR |
| Q5RJS6 | Mospd1 | Motile sperm domain-containing protein 1 | Rattus norvegicus (Rat) | PR |
| Q9Z269 | Vapb | Vesicle-associated membrane protein-associated protein B | Rattus norvegicus (Rat) | PR |
| Q1ECE0 | PVA41 | Vesicle-associated protein 4-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LPQ7 | PVA43 | Vesicle-associated protein 4-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VYN2 | PVA42 | Vesicle-associated protein 4-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VZ95 | PVA11 | Vesicle-associated protein 1-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKVEQVLSL | EPQHELKFRG | PFTDVVTTNL | KLGNPTDRNV | CFKVKTTAPR | RYCVRPNSGI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IDAGASINVS | VMLQPFDYDP | NEKSKHKFMV | QSMFAPTDTS | DMEAVWKEAK | PEDLMDSKLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CVFELPAEND | KPHDVEINKI | ISTTASKTET | PIVSKSLSSS | LDDTEVKKVM | EECKRLQGEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRLREENKQF | KEEDGLRMRK | TVQSNSPISA | LAPTGKEEGL | STRLLALVVL | FFIVGVIIGK |
| IAL |