P21281
PR
Gene name |
ATP6V1B2 (ATP6B2, VPP3) |
Protein name |
V-type proton ATPase subunit B, brain isoform |
Names |
V-ATPase subunit B 2, Endomembrane proton pump 58 kDa subunit, HO57, Vacuolar proton pump subunit B 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:526 |
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
320 variants for P21281
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1135401772 CA370473147 RCV000496102 |
374 | E>Q | Zimmermann-Laband syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4657123 rs371060908 RCV001330828 |
439 | V>I | Variant assessed as Somatic; 0.0 impact. Autosomal dominant deafness - onychodystrophy syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2072895089 RCV001197072 |
479 | I>M | Zimmermann-Laband syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730882177 CA215100 RCV000190318 RCV000185603 VAR_073962 |
485 | R>P | Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome 1 ZLS2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000984015 CA370473956 rs1585256207 RCV000988042 |
489 | K>* | Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome with epileptic encephalopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002273974 RCV003128591 CA215098 RCV000185602 rs794729667 |
506 | R>* | Autosomal dominant deafness - onychodystrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147213687 CA4656657 |
2 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147213687 CA370470620 |
2 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370470619 rs1459131338 |
2 | A>S | No |
ClinGen gnomAD |
|
|
rs147213687 CA4656656 |
2 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201057159 CA4656658 |
3 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370470624 rs1272727705 |
3 | L>R | No |
ClinGen gnomAD |
|
|
rs116941637 CA370470627 |
4 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000950166 rs116941637 CA4656661 |
4 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4656660 rs766209498 |
4 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368067224 CA4656665 |
5 | A>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs368067224 CA4656666 |
5 | A>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4656664 rs368067224 |
5 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA370470636 rs1450827536 |
6 | M>I | No |
ClinGen gnomAD |
|
|
rs142788403 CA4656669 |
6 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370470634 rs1270626798 |
6 | M>R | No |
ClinGen TOPMed |
|
|
CA4656668 rs142788403 |
6 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371878324 CA173405499 |
7 | R>L | No |
ClinGen ESP |
|
|
rs371878324 CA173405495 |
7 | R>Q | No |
ClinGen ESP |
|
|
CA4656670 rs749448627 |
7 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370470643 rs779237988 |
8 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA173405503 rs941183850 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779237988 CA4656672 |
8 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs776055441 CA4656676 |
9 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776055441 CA4656675 |
9 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370470656 rs1390392736 |
11 | N>D | No |
ClinGen gnomAD |
|
|
CA4656679 rs762637201 |
11 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361764503 CA370470664 |
12 | G>E | No |
ClinGen TOPMed |
|
|
CA173405523 rs774605104 |
12 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4656680 rs368412428 |
13 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405004495 CA370470671 |
13 | A>V | No |
ClinGen gnomAD |
|
|
rs149880251 RCV000965069 CA4656682 |
14 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs149880251 CA370470673 |
14 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376671385 CA4656683 |
15 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764106165 CA4656687 |
15 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764106165 CA4656686 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764106165 CA173405553 |
15 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376671385 CA4656685 |
15 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376671385 CA4656684 |
15 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370470683 rs1427689087 |
16 | E>D | No |
ClinGen TOPMed |
|
|
rs1421159879 CA370470680 |
16 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA370470678 rs1585242471 |
16 | E>Q | No |
ClinGen Ensembl |
|
|
rs757469155 CA370470686 |
17 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1011042170 CA173405561 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370470692 rs1490590011 COSM1552187 |
18 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4656690 rs750780427 |
19 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1183513157 CA370470705 |
20 | P>L | No |
ClinGen gnomAD |
|
|
CA4656691 rs758641785 |
21 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370470716 rs1165410789 |
22 | G>V | No |
ClinGen gnomAD |
|
|
rs769442671 CA4656694 |
24 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769442671 CA4656695 |
24 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA370470737 rs1585242505 |
26 | V>G | No |
ClinGen Ensembl |
|
|
rs749013791 CA4656696 |
26 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1042378 CA173405617 |
28 | A>S | No |
ClinGen Ensembl |
|
|
CA4656698 rs774060783 |
28 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA370470751 rs17856874 |
29 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs17856874 CA370470750 |
29 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs17856874 CA173405619 |
29 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4656699 rs372565000 |
30 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4656700 rs572969010 |
32 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4656701 rs775514999 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA370470771 rs1227870010 |
33 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA173405641 rs1030076370 |
34 | A>G | No |
ClinGen TOPMed |
|
|
CA370470786 rs1585242543 |
35 | V>G | No |
ClinGen Ensembl |
|
|
CA4656703 rs764227326 |
37 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370470795 rs764227326 |
37 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190261837 CA370470800 |
38 | N>D | No |
ClinGen gnomAD |
|
|
CA173405647 rs955406128 |
38 | N>K | No |
ClinGen TOPMed |
|
|
CA370470804 rs1244057571 |
38 | N>S | No |
ClinGen gnomAD |
|
|
CA370470817 rs1167559268 |
40 | L>P | No |
ClinGen gnomAD |
|
|
CA4656704 rs753886678 |
40 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469724244 CA370470832 |
42 | Q>H | No |
ClinGen gnomAD |
|
|
CA4656706 rs765520929 |
46 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs779952110 CA4656737 |
49 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4656738 rs746829559 |
50 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768400416 CA4656739 |
51 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs200124277 CA4656741 |
54 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4656742 rs200124277 |
54 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4656744 rs763274868 |
57 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1214156087 CA370470940 |
59 | I>V | No |
ClinGen TOPMed |
|
|
CA4656746 rs774663114 |
63 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376097444 CA4656769 |
67 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376097444 CA4656770 |
67 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs953134655 CA173414838 |
67 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1420257074 CA370471024 |
69 | A>G | No |
ClinGen gnomAD |
|
|
CA370471022 rs1563809007 |
69 | A>S | No |
ClinGen Ensembl |
|
|
CA4656771 rs762375539 |
73 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA4656772 rs765819112 |
73 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370471047 rs762375539 |
73 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1490213139 CA370471076 |
77 | P>L | No |
ClinGen gnomAD |
|
|
rs751273056 CA4656773 |
77 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4656776 rs752411965 |
85 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs979957252 CA173414849 |
90 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs979957252 CA370471162 |
90 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4656779 rs749178277 |
91 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4656780 rs770926461 |
93 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1563809095 CA370471198 |
96 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001171568 rs1216774490 CA370471258 |
103 | S>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA370471259 rs1377627817 |
103 | S>L | No |
ClinGen TOPMed |
|
|
rs1307333015 CA370471264 |
104 | G>S | No |
ClinGen gnomAD |
|
|
CA370471273 rs1452756338 |
105 | I>M | No |
ClinGen TOPMed |
|
|
rs371904611 CA4656801 |
105 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4656803 rs747195724 |
108 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 110 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370471313 rs1294280178 |
111 | S>F | No |
ClinGen gnomAD |
|
|
rs777051129 CA4656805 |
111 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs946735150 CA173415668 |
118 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748641098 CA4656806 |
120 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4656807 rs770261713 |
120 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370471384 rs1421949299 |
122 | P>L | No |
ClinGen TOPMed |
|
|
rs766942720 CA4656810 |
123 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA173415711 rs910643917 |
124 | S>A | No |
ClinGen Ensembl |
|
|
CA370471446 rs1164545242 COSM1235057 |
130 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA370471445 rs1328244713 |
130 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778144854 CA370471462 |
132 | F>L | No |
ClinGen TOPMed |
|
|
CA173415978 rs368697683 |
133 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1035516813 CA173415980 |
133 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1321960568 CA370471478 |
135 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761709834 CA4656832 |
138 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA173415981 rs761709834 |
138 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4656833 rs765067631 |
139 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204161586 CA370471513 |
141 | R>G | No |
ClinGen gnomAD |
|
|
rs750444471 CA4656834 |
144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1345232749 CA370471533 |
144 | V>L | No |
ClinGen gnomAD |
|
|
rs369838849 CA173416010 |
148 | E>V | No |
ClinGen ESP TOPMed |
|
|
rs1178530691 CA370471565 |
149 | D>G | No |
ClinGen gnomAD |
|
|
rs1479395482 CA370471562 |
149 | D>H | No |
ClinGen gnomAD |
|
|
CA4656838 rs754962630 |
151 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370471577 rs754962630 |
151 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585250620 CA370471598 |
154 | M>V | No |
ClinGen Ensembl |
|
|
rs1427172110 CA370471625 |
156 | Q>K | No |
ClinGen TOPMed |
|
|
CA4656863 rs778147916 |
156 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4656865 rs371308628 |
158 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4656864 rs148416874 |
158 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485510347 CA370471660 |
161 | Q>P | No |
ClinGen TOPMed |
|
|
CA4656866 rs779483311 |
162 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4656867 rs746306872 |
166 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1419503582 CA370471697 |
167 | E>K | No |
ClinGen gnomAD |
|
|
CA4656870 rs747844043 |
169 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1585251000 CA370471723 |
170 | I>F | No |
ClinGen Ensembl |
|
|
rs17852791 CA173416621 |
171 | Q>R | No |
ClinGen Ensembl |
|
|
rs1164227672 CA370471759 |
175 | S>L | No |
ClinGen gnomAD |
|
|
CA4656875 rs150942208 |
177 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4656873 rs762837069 |
177 | I>V | No |
ClinGen ExAC |
|
|
rs759373893 CA4656876 |
178 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173416687 rs1007200968 |
182 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 186 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2072790565 RCV001172184 |
188 | K>N | No |
ClinVar dbSNP |
|
| TCGA novel | 190 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764333561 CA4656880 |
191 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370471876 rs1306436088 |
192 | F>L | No |
ClinGen gnomAD |
|
|
CA4656881 rs374210970 |
193 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 196 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173416701 rs1018219175 |
198 | P>L | No |
ClinGen Ensembl |
|
|
rs1253047146 CA370471907 |
198 | P>S | No |
ClinGen gnomAD |
|
|
COSM3768756 rs757657390 CA4656882 |
200 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1563811503 CA370471949 |
202 | I>T | No |
ClinGen Ensembl |
|
|
rs775420686 CA4656913 |
208 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200664744 CA4656914 |
208 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 208 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370471997 rs1344760948 |
209 | Q>H | No |
ClinGen TOPMed |
|
|
CA370472001 rs1218253637 |
210 | A>S | No |
ClinGen gnomAD |
|
|
rs768791251 CA4656915 |
212 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA370472036 rs1303753404 |
215 | K>I | No |
ClinGen TOPMed |
|
|
rs776546672 CA4656916 |
216 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs762147835 CA4656917 |
219 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA370472062 rs1197855615 |
219 | V>L | No |
ClinGen gnomAD |
|
|
rs894688976 CA173417150 |
220 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763412091 CA4656920 |
222 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1585251329 CA370472092 |
223 | S>R | No |
ClinGen Ensembl |
|
|
rs763698959 CA4656924 |
229 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370472137 rs1347259658 |
230 | V>I | No |
ClinGen gnomAD |
|
|
CA370472160 rs1441068315 |
233 | A>V | No |
ClinGen gnomAD |
|
|
CA370472169 rs1370938425 |
234 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1479699892 CA370472164 |
234 | M>L | No |
ClinGen TOPMed |
|
|
rs1233102573 CA370472173 |
235 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4656954 rs780999092 |
238 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370472231 rs1554545462 RCV000520184 |
241 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4656956 rs748057717 |
242 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1167254984 CA370472256 |
245 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370472275 rs1417364430 |
248 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450655704 CA370472314 |
253 | S>P | No |
ClinGen gnomAD |
|
|
rs1563812051 CA370472320 |
254 | M>K | No |
ClinGen Ensembl |
|
|
CA370472318 rs771254645 |
254 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4656959 rs771254645 |
254 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224141925 CA370472331 |
255 | D>V | No |
ClinGen gnomAD |
|
|
rs774665238 CA370472337 |
256 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4656960 rs774665238 |
256 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301909179 CA370472380 |
262 | N>S | No |
ClinGen TOPMed |
|
|
rs775920350 CA4656963 |
265 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4656964 rs769246654 |
268 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369198184 CA370472420 |
268 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369198184 CA4656965 |
268 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173417618 rs769246654 |
268 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4656989 rs767252704 |
269 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1256588728 CA370472452 |
272 | I>V | No |
ClinGen TOPMed |
|
|
CA4656991 rs755815167 |
280 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370472504 rs755815167 |
280 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200116509 CA173418316 |
281 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1303059643 CA370472509 |
281 | T>I | No |
ClinGen gnomAD |
|
|
CA370472555 rs1302361186 |
288 | Q>R | No |
ClinGen gnomAD |
|
|
CA4656995 rs779131528 |
289 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1355214427 CA370472636 |
300 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777139485 COSM1097889 CA4657001 |
308 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV000493259 rs1131691864 CA370472698 |
309 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 318 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173420062 rs1030664115 |
320 | R>* | No |
ClinGen Ensembl |
|
|
rs370505738 CA4657021 |
320 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1334807861 CA370472785 |
321 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs745415060 CA4657022 |
333 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs775220284 CA4657025 |
335 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4657024 rs775220284 |
335 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961488730 CA173420081 |
337 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 337 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776545761 CA173420084 |
338 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4657027 rs776545761 COSM1455983 |
338 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4657028 rs761652669 |
340 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA173420122 rs17856875 |
342 | E>G | No |
ClinGen Ensembl |
|
|
rs1241602766 CA370472919 |
342 | E>K | No |
ClinGen gnomAD |
|
|
rs1182455680 CA370472927 |
343 | G>R | No |
ClinGen gnomAD |
|
|
CA370472943 rs1585253177 |
345 | N>S | No |
ClinGen Ensembl |
|
|
CA4657030 rs750265592 |
346 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370472982 rs1585253194 |
351 | I>N | No |
ClinGen Ensembl |
|
|
rs1473787068 CA370472992 |
353 | I>L | No |
ClinGen TOPMed |
|
|
CA370473000 rs766359858 |
354 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4657033 rs146198696 |
355 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1208797139 CA370473008 |
355 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370473007 rs1208797139 |
355 | T>S | No |
ClinGen gnomAD |
|
|
rs765038104 CA173420160 |
359 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs746550420 CA4657061 |
371 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1585254017 CA370473164 RCV000799443 |
376 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs138887483 CA4657063 |
377 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1360633402 CA370473178 |
378 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4657064 rs141260471 |
380 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200774954 CA173421347 |
384 | H>R | No |
ClinGen 1000Genomes |
|
|
rs901463497 CA173421345 |
384 | H>Y | No |
ClinGen TOPMed |
|
|
CA370473221 rs1369059844 |
385 | N>H | No |
ClinGen TOPMed |
|
|
rs1473055499 CA370473267 |
389 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1178900227 CA370473281 |
391 | P>R | No |
ClinGen TOPMed |
|
|
rs745791826 CA4657088 |
392 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA370473297 rs772205263 |
394 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4657089 rs772205263 |
394 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775526855 CA4657090 |
396 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776846749 CA4657094 |
406 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388636671 CA370473382 |
408 | E>K | No |
ClinGen gnomAD |
|
|
CA370473398 rs1430607145 |
410 | M>V | No |
ClinGen gnomAD |
|
|
rs1342758124 CA370473426 |
414 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1342758124 CA370473428 |
414 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4657097 rs751041922 |
417 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767182084 CA370473468 |
420 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs767182084 CA370473467 |
420 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs775550349 CA173422066 |
420 | N>S | No |
ClinGen Ensembl |
|
|
rs767182084 CA4657099 |
420 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4657115 COSM3765395 rs773692536 |
424 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4657117 rs767020613 |
425 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752034354 CA4657118 |
426 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM486289 rs763645512 CA4657120 |
428 | I>T | kidney Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA370473540 rs1585255069 |
429 | G>E | No |
ClinGen Ensembl |
|
|
rs1302172983 CA370473548 |
430 | K>R | No |
ClinGen TOPMed |
|
|
CA4657121 rs753499128 |
433 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1367262804 CA370473577 |
434 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 434 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4657122 rs756871014 |
435 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA370473580 rs1156814793 |
435 | M>L | No |
ClinGen TOPMed |
|
|
rs1331256820 CA370473582 |
435 | M>T | No |
ClinGen gnomAD |
|
|
RCV000414094 rs1057517879 |
439 | V>missing | No |
ClinVar dbSNP |
|
|
CA4657124 rs750249784 |
441 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA173423058 rs56251395 |
442 | E>Q | No |
ClinGen Ensembl |
|
|
rs1407340485 CA370473631 |
443 | A>T | No |
ClinGen TOPMed |
|
|
rs1487472729 CA370473644 |
445 | T>A | No |
ClinGen gnomAD |
|
|
CA173423059 rs375399217 |
445 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs1267836651 CA370473648 |
446 | S>A | No |
ClinGen gnomAD |
|
|
CA370473653 rs1457447198 |
446 | S>L | No |
ClinGen gnomAD |
|
|
rs1199006860 CA370473658 |
447 | D>G | No |
ClinGen TOPMed |
|
|
rs1266975399 CA370473655 |
447 | D>H | No |
ClinGen TOPMed |
|
|
CA370473735 rs1164669851 |
458 | F>L | No |
ClinGen gnomAD |
|
|
CA4657128 COSM318847 rs755083102 |
459 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4657129 rs781305658 |
460 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA173423075 rs970410030 |
463 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA173424383 rs972378006 |
466 | G>D | No |
ClinGen Ensembl |
|
|
rs919616326 CA173424389 |
467 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1430532125 CA370473834 |
470 | N>S | No |
ClinGen gnomAD |
|
|
rs868258923 CA173424390 |
471 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4657146 rs577956380 |
471 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA370473841 rs1301703945 |
472 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs149491003 CA4657147 |
473 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313430412 CA370473869 |
476 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370473894 rs1339577445 |
479 | I>N | No |
ClinGen gnomAD |
|
|
CA173424397 rs143933547 |
484 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs1585256207 CA370473954 |
489 | K>Q | No |
ClinGen Ensembl |
|
|
rs1397384554 CA370473958 |
489 | K>R | No |
ClinGen TOPMed |
|
|
rs754924967 CA4657149 |
491 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs986539797 CA173424413 |
491 | M>V | No |
ClinGen TOPMed |
|
|
CA4657151 rs748265664 |
498 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563820383 CA370474024 |
498 | S>R | No |
ClinGen Ensembl |
|
|
CA4657152 rs756192990 |
500 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4657153 rs778151601 |
501 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs949243226 COSM3834386 CA173424459 |
502 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 502 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370474055 rs1196251468 |
503 | F>Y | No |
ClinGen gnomAD |
|
|
rs1585256240 CA370474061 |
504 | Y>S | No |
ClinGen Ensembl |
|
|
CA370474071 rs1255068779 |
505 | P>R | No |
ClinGen TOPMed |
|
|
rs771487520 CA4657155 |
507 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA370474105 rs1348120215 |
511 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 512 | H>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with P21281
[MIM: 616455]: Zimmermann-Laband syndrome 2 (ZLS2)
A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant. {ECO:0000269|PubMed:25915598}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 124480]: Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD)
An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. {ECO:0000269|PubMed:24913193}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant. {ECO:0000269|PubMed:25915598}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. {ECO:0000269|PubMed:24913193}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P21281
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain | 173 - 399 | IPR000194 |
| domain | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain | 50 - 116 | IPR004100 |
| active_site | ATPase, alpha/beta subunit, nucleotide-binding domain, active site | 390 - 399 | IPR020003 |
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| clathrin-coated vesicle membrane | The lipid bilayer surrounding a clathrin-coated vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
| vacuolar proton-transporting V-type ATPase, V1 domain | The V1 domain of a proton-transporting V-type ATPase found in the vacuolar membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| proton transmembrane transporter activity | Enables the transfer of a proton from one side of a membrane to the other. |
| proton-transporting ATPase activity, rotational mechanism | Enables the transfer of protons from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) = ADP + phosphate + H+(out), by a rotational mechanism. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of macroautophagy | Any process that modulates the frequency, rate or extent of macroautophagy. |
| vacuolar acidification | Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALRAMRGIV | NGAAPELPVP | TGGPAVGARE | QALAVSRNYL | SQPRLTYKTV | SGVNGPLVIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DHVKFPRYAE | IVHLTLPDGT | KRSGQVLEVS | GSKAVVQVFE | GTSGIDAKKT | SCEFTGDILR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPVSEDMLGR | VFNGSGKPID | RGPVVLAEDF | LDIMGQPINP | QCRIYPEEMI | QTGISAIDGM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NSIARGQKIP | IFSAAGLPHN | EIAAQICRQA | GLVKKSKDVV | DYSEENFAIV | FAAMGVNMET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ARFFKSDFEE | NGSMDNVCLF | LNLANDPTIE | RIITPRLALT | TAEFLAYQCE | KHVLVILTDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSYAEALREV | SAAREEVPGR | RGFPGYMYTD | LATIYERAGR | VEGRNGSITQ | IPILTMPNDD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ITHPIPDLTG | YITEGQIYVD | RQLHNRQIYP | PINVLPSLSR | LMKSAIGEGM | TRKDHADVSN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QLYACYAIGK | DVQAMKAVVG | EEALTSDDLL | YLEFLQKFER | NFIAQGPYEN | RTVFETLDIG |
| 490 | 500 | 510 | |||
| WQLLRIFPKE | MLKRIPQSTL | SEFYPRDSAK | H |