Q8N4L2
PR
Gene name |
PIP4P2 |
Protein name |
Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase |
Names |
Type 2 PtdIns-4,5-P2 4-Ptase, PtdIns-4,5-P2 4-Ptase II, Transmembrane protein 55A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55529 |
EC number |
3.1.3.78: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N4L2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N4L2-F1 | Predicted | AlphaFoldDB |
203 variants for Q8N4L2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA371665002 rs1293674133 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA371665001 rs1293674133 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA371664993 rs1192198421 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs756916047 CA4804594 |
6 | V>G | No |
ClinGen ExAC |
|
|
CA371664976 rs1258705021 |
6 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371664954 rs1209676123 |
9 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1209676123 CA371664955 |
9 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371664953 rs1209676123 |
9 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767545840 CA4804589 |
15 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371664910 rs1563571635 |
17 | H>N | No |
ClinGen Ensembl |
|
|
CA4804586 rs770896915 |
17 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200764354 CA4804584 |
18 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4804585 rs749129468 |
18 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs548165601 CA4804582 |
19 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA181259017 rs915342119 |
22 | T>I | No |
ClinGen Ensembl |
|
|
rs1391225136 CA371664872 |
23 | P>L | No |
ClinGen gnomAD |
|
|
CA4804580 rs755450773 |
25 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1187629091 CA371664859 |
25 | A>V | No |
ClinGen gnomAD |
|
|
CA181258998 rs938218137 |
26 | P>A | No |
ClinGen Ensembl |
|
|
CA4804579 rs763615534 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758652355 CA4804576 |
27 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA371664851 rs750802951 |
27 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750802951 CA4804575 |
27 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371664845 rs1255666498 |
28 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215048389 CA371664834 |
30 | Q>K | No |
ClinGen gnomAD |
|
|
CA4804573 rs755850292 |
32 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371664799 rs1452881541 |
34 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 36 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200603061 CA4804537 |
36 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4804536 rs372714085 |
37 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1476110388 CA371661767 |
38 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1586182190 CA371661762 |
38 | L>P | No |
ClinGen Ensembl |
|
|
rs1242573098 CA371661756 |
39 | P>T | No |
ClinGen gnomAD |
|
|
rs1192451532 CA371661738 |
40 | P>S | No |
ClinGen gnomAD |
|
|
rs1487182429 CA371661715 |
41 | P>A | No |
ClinGen gnomAD |
|
|
rs749700279 CA4804535 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4804534 rs780923151 |
42 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA371661665 rs1278197706 |
44 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371661655 rs1217493710 |
45 | I>T | No |
ClinGen gnomAD |
|
|
rs142242144 CA371661591 |
50 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142242144 CA4804531 |
50 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4804530 rs200597168 |
51 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371661521 rs1338877144 |
54 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4804528 rs765121932 |
56 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4804526 rs202042773 |
59 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1229701 CA4804525 rs764284578 |
59 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4804523 rs775397224 |
67 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1476826736 CA371661292 |
68 | D>G | No |
ClinGen gnomAD |
|
|
CA371661265 rs1419980810 |
69 | G>A | No |
ClinGen gnomAD |
|
|
rs1405941811 CA371661253 |
70 | K>E | No |
ClinGen gnomAD |
|
|
rs148497785 CA4804522 |
73 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759557450 CA4804521 |
74 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771567364 CA4804519 |
76 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4804518 rs749659354 |
79 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA371661121 rs1406777730 |
79 | T>I | No |
ClinGen TOPMed |
|
|
rs768392842 CA4804516 |
80 | V>L | No |
ClinGen ExAC |
|
|
rs1344561953 CA371661086 |
82 | N>H | No |
ClinGen TOPMed |
|
|
CA371661079 rs1295659095 |
82 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 84 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4804515 rs546524929 |
85 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1102368 CA371661036 rs1378975239 |
85 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs375650969 CA4804501 |
86 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927324148 CA181244622 |
87 | I>T | No |
ClinGen TOPMed |
|
|
rs1411466993 CA371660388 |
87 | I>V | No |
ClinGen TOPMed |
|
|
rs981471929 CA181244621 |
89 | N>S | No |
ClinGen TOPMed |
|
|
rs1308099355 CA371660337 |
91 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371660335 rs1308099355 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371660339 rs1308099355 |
91 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763597392 CA4804500 |
92 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181244606 rs1000073242 |
92 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372629352 CA371660321 |
93 | G>D | No |
ClinGen gnomAD |
|
|
CA4804499 rs570418864 |
94 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371660299 rs1457390285 |
95 | K>E | No |
ClinGen gnomAD |
|
|
CA371660290 rs1449125662 |
95 | K>N | No |
ClinGen TOPMed |
|
|
CA4804498 rs770236242 |
96 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181244586 rs752552347 |
98 | R>I | No |
ClinGen Ensembl |
|
|
rs777763169 CA371660229 |
100 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA181244561 rs777763169 |
100 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371660205 rs1401078610 |
102 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4804496 rs552827743 |
109 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771639525 CA4804495 |
110 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs745374056 CA4804494 |
112 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371660063 rs1255002145 |
112 | R>W | No |
ClinGen gnomAD |
|
|
CA181244529 rs994312870 |
113 | R>* | No |
ClinGen Ensembl |
|
|
CA371660051 rs778458462 |
113 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778458462 CA4804493 |
113 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371660040 rs1563566336 |
115 | G>* | No |
ClinGen Ensembl |
|
|
CA371660012 rs1211961815 |
119 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371659979 rs759148544 |
122 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4804475 rs759148544 |
122 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs770375890 CA4804473 |
123 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4804474 rs773824790 |
123 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs748826712 CA4804472 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371659953 rs1215128358 |
126 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371659943 rs1339568165 |
128 | G>D | No |
ClinGen gnomAD |
|
|
rs139160288 CA4804471 |
129 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371659930 rs1416420246 |
130 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1393698227 CA371659917 |
132 | L>H | No |
ClinGen TOPMed |
|
|
rs1457847552 CA371659879 |
137 | Q>H | No |
ClinGen gnomAD |
|
|
rs945571927 CA181243611 |
138 | P>A | No |
ClinGen Ensembl |
|
|
CA4804469 rs747961318 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4804470 rs769630877 |
141 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185739755 CA371659845 |
143 | L>S | No |
ClinGen gnomAD |
|
|
rs1275223371 CA371659841 |
144 | P>T | No |
ClinGen TOPMed |
|
|
CA181243596 rs112268572 |
146 | Q>R | No |
ClinGen Ensembl |
|
|
rs751782382 CA4804466 |
149 | G>D | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 152 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750548617 CA4804463 |
153 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758488670 CA4804464 |
153 | V>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175360186 CA371659771 |
155 | G>R | No |
ClinGen TOPMed |
|
|
CA371659766 rs1185572119 |
155 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371659737 rs1484723721 |
159 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 163 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4804441 rs764689118 |
164 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA371657994 rs1447591056 |
164 | M>T | No |
ClinGen gnomAD |
|
|
CA4804440 rs756365947 |
168 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371657926 rs1586176856 |
168 | F>V | No |
ClinGen Ensembl |
|
|
rs756365947 CA181237283 COSM1268126 |
168 | F>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs955765620 CA181237277 |
170 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443818583 CA371657838 |
173 | K>R | No |
ClinGen gnomAD |
|
|
rs1162993059 CA583383400 |
174 | C>* | No |
ClinGen gnomAD |
|
|
CA583383399 rs1456715522 |
174 | C>* | No |
ClinGen gnomAD |
|
|
rs1365119082 CA371657794 |
176 | H>N | No |
ClinGen gnomAD |
|
|
CA181237273 rs866261496 |
177 | C>F | No |
ClinGen Ensembl |
|
|
CA4804438 rs766001192 |
178 | K>Q | No |
ClinGen ExAC |
|
| rs1158949501 | 180 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371827250 rs1196750498 |
185 | S>C | No |
ClinGen gnomAD |
|
|
CA4804432 rs563948361 |
185 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs968990964 CA181788586 |
186 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA371827243 rs1197113441 |
186 | A>V | No |
ClinGen Ensembl |
|
|
CA371827230 rs1488060825 |
188 | P>L | No |
ClinGen gnomAD |
|
|
CA4804431 rs776367256 |
188 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768655128 CA371827228 |
189 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM198355 CA4804429 rs746791765 |
189 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775495620 CA4804428 |
190 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371827217 rs1274747329 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772395830 CA4804427 |
191 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1279197239 CA371827197 |
194 | A>T | No |
ClinGen gnomAD |
|
|
CA181788585 rs370866174 |
195 | Y>C | No |
ClinGen ESP |
|
|
rs1358172176 CA371827184 |
196 | I>V | No |
ClinGen gnomAD |
|
|
CA4804424 rs757240261 |
197 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4804423 rs377663993 |
201 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371827122 rs778083012 |
202 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4804422 rs778083012 |
202 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4804421 rs756671179 |
202 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371827098 rs1386838919 |
204 | F>I | No |
ClinGen TOPMed |
|
|
CA371827075 rs1162666316 |
205 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs767907940 CA4804419 |
205 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4804420 rs199892010 |
205 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755360557 CA4804418 |
207 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 212 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371826822 rs73694351 |
212 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs73694351 CA4804406 |
212 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771196640 CA4804405 |
213 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs981744163 CA181788524 |
214 | P>S | No |
ClinGen TOPMed |
|
|
rs934341470 CA181788523 |
219 | R>* | No |
ClinGen Ensembl |
|
|
COSM1229703 rs749313481 CA4804404 |
219 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4804403 rs777975247 |
221 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198618388 CA371826769 |
221 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4804402 rs541572362 |
222 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4804401 rs748605922 |
223 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371826757 rs748605922 |
223 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA371826752 rs1292403207 |
224 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4804400 rs781687794 |
225 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs755270834 CA4804399 |
228 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA371826722 rs1023248199 |
229 | I>F | No |
ClinGen TOPMed |
|
|
CA181788522 rs1023248199 |
229 | I>V | No |
ClinGen TOPMed |
|
|
rs1282081532 COSM1102366 CA371826717 |
230 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4804398 rs751969059 |
231 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4804397 rs778420074 |
233 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA371826694 rs1300068272 COSM1319688 |
234 | G>R | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371826684 rs1229468184 |
235 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs577355107 CA181788521 |
236 | I>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 237 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4804395 rs753260158 |
239 | I>T | No |
ClinGen ExAC |
|
|
rs763749046 CA4804394 |
240 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4804393 rs760280663 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371826641 rs1586172338 |
242 | C>F | No |
ClinGen Ensembl |
|
|
rs767564451 CA4804391 |
243 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767564451 CA4804390 |
243 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA371826630 rs1586172326 |
244 | W>G | No |
ClinGen Ensembl |
|
|
rs1388609509 CA371826620 COSM3413157 |
245 | G>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA371826622 rs1586172321 |
245 | G>R | No |
ClinGen Ensembl |
|
|
CA371826611 rs1422190185 |
247 | I>V | No |
ClinGen TOPMed |
|
|
CA181788519 rs778053742 |
250 | S>N | No |
ClinGen Ensembl |
|
|
CA371826580 rs1248964956 |
251 | Y>C | No |
ClinGen gnomAD |
|
|
CA181788518 rs915681822 |
252 | P>A | No |
ClinGen Ensembl |
|
|
CA4804385 rs769826071 |
254 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs769826071 CA4804384 |
254 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA4804383 rs781622276 |
254 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA371826561 rs144703182 CA4804381 |
254 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4804382 rs781622276 |
254 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs376820997 CA181788517 |
255 | S>R | No |
ClinGen Ensembl |
No associated diseases with Q8N4L2
No regional properties for Q8N4L2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N4L2 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.78 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3-phosphate + phosphate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of phagocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZ48 | PIP4P2 | Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase | Bos taurus (Bovine) | PR |
| Q9CZX7 | Pip4p2 | Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase | Mus musculus (Mouse) | PR |
| Q4V888 | Pip4p2 | Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase | Rattus norvegicus (Rat) | PR |
| Q6DIE4 | pip4p2 | Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAADGVDERS | PLLSASHSGN | VTPTAPPYLQ | ESSPRAELPP | PYTAIASPDA | SGIPVINCRV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CQSLINLDGK | LHQHVVKCTV | CNEATPIKNP | PTGKKYVRCP | CNCLLICKDT | SRRIGCPRPN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CRRIINLGPV | MLISEEQPAQ | PALPIQPEGT | RVVCGHCGNT | FLWMELRFNT | LAKCPHCKKI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSVGSALPRR | RCCAYITIGM | ICIFIGVGLT | VGTPDFARRF | RATYVSWAIA | YLLGLICLIR |
| 250 | |||||
| ACYWGAIRVS | YPEHSFA |