O95674
PR
Gene name |
CDS2 |
Protein name |
Phosphatidate cytidylyltransferase 2 |
Names |
CDP-DAG synthase 2, CDP-DG synthase 2, CDP-diacylglycerol synthase 2, CDS 2, CDP-diglyceride pyrophosphorylase 2, CDP-diglyceride synthase 2, CTP:phosphatidate cytidylyltransferase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8760 |
EC number |
2.7.7.41: Nucleotidyltransferases |
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 O95674
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95674-F1 | Predicted | AlphaFoldDB |
248 variants for O95674
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA408162826 rs1291234500 |
2 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA311132504 rs969314559 |
6 | Q>* | No |
ClinGen TOPMed |
|
|
CA9753729 rs748063424 |
6 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311132507 rs998068794 |
9 | A>V | No |
ClinGen TOPMed |
|
|
rs1480222459 CA408162875 |
10 | H>N | No |
ClinGen gnomAD |
|
|
CA408162883 rs1182374919 |
10 | H>Q | No |
ClinGen gnomAD |
|
|
CA408162884 rs1480946827 |
11 | E>K | No |
ClinGen TOPMed |
|
|
rs866786243 CA408162894 |
12 | P>A | No |
ClinGen gnomAD |
|
|
rs1421484496 CA408162896 |
12 | P>R | No |
ClinGen gnomAD |
|
|
CA408162893 rs866786243 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs866786243 CA311132509 |
12 | P>T | No |
ClinGen gnomAD |
|
|
rs1390363005 CA408162900 |
13 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM4137046 rs1431223268 CA408162914 |
14 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA408162944 rs1353105288 |
17 | E>D | No |
ClinGen gnomAD |
|
|
CA9753766 rs758083846 |
23 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408157083 rs758083846 |
23 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568540152 CA408157071 |
23 | S>P | No |
ClinGen Ensembl |
|
|
rs777802239 CA9753767 |
30 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751471229 CA9753768 |
31 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs922225839 CA311123533 |
32 | A>P | No |
ClinGen TOPMed |
|
|
rs756272857 CA9753769 |
33 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408157282 rs1162400966 |
34 | D>G | No |
ClinGen TOPMed |
|
|
rs373151186 CA311123542 |
37 | S>C | No |
ClinGen Ensembl |
|
|
rs768966690 CA9753772 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753771 rs749586772 |
38 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs892859277 CA311123564 |
41 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs779193302 CA9753773 |
41 | S>P | No |
ClinGen ExAC |
|
|
CA9753779 rs776089191 |
42 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9753778 rs150527816 |
42 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9753777 rs150527816 |
42 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9753776 rs150527816 |
42 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408157420 rs776089191 |
42 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439903383 CA408157441 |
43 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1439903383 CA408157436 |
43 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9753782 rs764968445 |
48 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752256189 CA9753783 |
49 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408157516 rs752256189 |
49 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311123601 rs866317733 |
49 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 50 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408157544 rs1358326851 |
51 | T>N | No |
ClinGen gnomAD |
|
|
CA311123608 rs753149866 |
52 | P>L | No |
ClinGen gnomAD |
|
|
CA408157583 rs1600504041 |
54 | V>G | No |
ClinGen Ensembl |
|
|
rs967244872 CA311123617 |
54 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1180277509 CA408157590 |
55 | L>F | No |
ClinGen gnomAD |
|
|
rs1221889538 CA408157598 |
56 | N>D | No |
ClinGen TOPMed |
|
|
CA408157608 rs1232811086 |
56 | N>S | No |
ClinGen gnomAD |
|
|
CA408157673 rs1185519007 |
61 | N>T | No |
ClinGen gnomAD |
|
|
rs1323033886 CA408157716 |
64 | S>* | No |
ClinGen gnomAD |
|
|
CA9753803 rs764012727 |
65 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375638808 CA9753786 |
65 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1348154195 CA408157982 |
66 | W>* | No |
ClinGen TOPMed |
|
|
CA9753804 rs751366627 |
67 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9753805 rs761889624 |
70 | W>R | No |
ClinGen ExAC |
|
|
CA408158081 rs1269947594 |
71 | V>A | No |
ClinGen gnomAD |
|
|
rs1225643228 CA408158072 |
71 | V>L | No |
ClinGen gnomAD |
|
|
CA408158131 rs1462105191 |
75 | L>P | No |
ClinGen TOPMed |
|
|
rs750344451 CA9753807 |
78 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1168874389 CA408158160 |
78 | A>T | No |
ClinGen TOPMed |
|
|
rs1568540815 CA408158172 |
79 | M>L | No |
ClinGen Ensembl |
|
|
rs1460883873 CA408158199 |
80 | I>M | No |
ClinGen gnomAD |
|
|
CA408158200 rs1209468734 |
81 | A>T | No |
ClinGen gnomAD |
|
|
CA408158301 rs1445466013 |
85 | I>T | No |
ClinGen gnomAD |
|
|
rs755090228 CA9753808 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408158329 rs1481335202 |
86 | I>M | No |
ClinGen gnomAD |
|
|
rs753031394 CA9753810 |
86 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753811 rs758519554 |
87 | I>V | No |
ClinGen ExAC |
|
|
rs1318446334 CA408158396 |
92 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 95 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9753813 rs747399402 |
95 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753814 rs757581849 |
95 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9753815 rs781669647 |
96 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756079307 CA311124563 |
96 | I>V | No |
ClinGen TOPMed |
|
|
rs1238442703 CA408158521 |
98 | V>L | No |
ClinGen gnomAD |
|
|
rs118058125 CA9753839 |
99 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408158538 rs1361898831 |
100 | C>Y | No |
ClinGen gnomAD |
|
|
CA9753840 rs370528801 |
101 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483293267 CA408158564 |
104 | K>T | No |
ClinGen gnomAD |
|
|
CA311125373 rs940915005 |
107 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408158657 rs1248330405 |
113 | G>A | No |
ClinGen gnomAD |
|
|
CA9753841 rs554837402 |
114 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM444047 rs576280057 CA9753844 |
116 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 118 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422337015 CA408158717 |
118 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA311125393 rs267605998 |
123 | P>S | No |
ClinGen Ensembl |
|
|
CA408159088 rs1408381741 |
131 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778622455 CA311126394 |
133 | L>P | No |
ClinGen Ensembl |
|
|
rs1384515433 CA408159140 |
138 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 139 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311126397 rs971254625 |
140 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408159152 rs971254625 |
140 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1600509282 CA408159182 |
144 | T>A | No |
ClinGen Ensembl |
|
|
CA9753864 rs759451970 |
146 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs200304958 CA9753867 |
148 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408159236 rs1459548600 |
152 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417791050 CA408159321 |
160 | R>W | No |
ClinGen gnomAD |
|
|
CA9753870 rs760954431 |
165 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs766708722 CA9753871 |
167 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA408159997 rs1468252293 |
169 | I>V | No |
ClinGen gnomAD |
|
|
rs1345912633 CA408160033 |
172 | T>A | No |
ClinGen gnomAD |
|
|
CA9753873 rs755510112 |
172 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778615193 CA9753874 |
173 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760939231 CA9753889 |
181 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1304702289 CA408160232 |
182 | V>I | No |
ClinGen gnomAD |
|
|
CA408160254 rs1404239295 |
185 | L>P | No |
ClinGen gnomAD |
|
|
rs1374789982 CA408160273 |
188 | K>T | No |
ClinGen gnomAD |
|
|
CA408160293 rs1403131707 |
190 | Y>* | No |
ClinGen TOPMed |
|
|
CA311127727 rs201613534 |
191 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA311127734 rs922936264 |
191 | R>Q | No |
ClinGen gnomAD |
|
|
rs1359750980 CA408160328 |
196 | M>V | No |
ClinGen gnomAD |
|
|
CA311128007 rs1040019910 |
205 | L>Q | No |
ClinGen Ensembl |
|
|
CA408160981 rs1237622895 |
206 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9753919 rs149850561 |
207 | V>I | No |
ClinGen ESP ExAC |
|
|
CA311128025 rs998384488 |
222 | M>V | No |
ClinGen Ensembl |
|
|
CA408161181 rs1168313633 |
223 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408161353 rs1169803675 |
224 | W>* | No |
ClinGen gnomAD |
|
|
rs1365573652 CA408161413 |
228 | P>L | No |
ClinGen TOPMed |
|
|
CA408161418 rs1162934858 |
229 | I>V | No |
ClinGen TOPMed |
|
|
rs112055575 CA311128702 |
230 | S>P | No |
ClinGen Ensembl |
|
|
CA311128706 rs1027169749 |
237 | I>N | No |
ClinGen Ensembl |
|
|
rs769231474 CA408161505 CA9753938 |
238 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311128709 rs959630049 |
238 | M>T | No |
ClinGen Ensembl |
|
|
CA9753937 rs763423288 |
238 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761393933 CA9753941 |
244 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1360732619 CA408161559 |
246 | F>L | No |
ClinGen gnomAD |
|
|
CA9753942 rs143175887 |
248 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408161573 COSM1200628 rs1328493982 |
248 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753364425 CA9753964 |
256 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220070818 CA408161845 |
260 | W>* | No |
ClinGen gnomAD |
|
|
rs758377160 CA9753968 |
264 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9753970 rs751029335 |
264 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758377160 CA9753969 |
264 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361600226 CA408161953 |
268 | F>I | No |
ClinGen gnomAD |
|
|
CA311128996 rs934257668 |
268 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA311129003 rs768802108 |
269 | A>G | No |
ClinGen Ensembl |
|
|
rs761112917 CA9753971 |
270 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs372946609 CA9753972 |
272 | V>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1369206983 CA408161998 |
272 | V>M | No |
ClinGen TOPMed |
|
|
CA9753994 rs758695298 |
277 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1568544472 CA408162171 |
277 | L>V | No |
ClinGen Ensembl |
|
|
CA9753995 rs778266222 |
278 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747499897 CA9753996 |
279 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA311129423 rs968075688 |
281 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9753998 rs775969481 |
283 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408162257 rs1244489500 |
284 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769350299 CA9754000 |
290 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9754002 rs762849124 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763926975 CA9754003 |
296 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9754004 rs774491503 |
297 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9754005 rs761838867 |
298 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408162427 rs1322583975 |
299 | S>N | No |
ClinGen TOPMed |
|
|
rs1408450361 CA408162473 |
305 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766522557 CA9754006 |
307 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362314931 CA408162483 |
307 | S>P | No |
ClinGen gnomAD |
|
|
rs146586086 CA9754008 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1264447519 CA408162515 |
312 | L>Q | No |
ClinGen gnomAD |
|
|
rs765381436 CA9754009 |
313 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs554397447 CA311129463 |
313 | Q>H | No |
ClinGen Ensembl |
|
|
CA9754010 rs752858402 |
315 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs758818265 CA9754011 |
316 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9754012 rs778104918 |
318 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA311129476 rs1040555217 |
320 | V>M | No |
ClinGen TOPMed |
|
|
CA311129477 rs924553512 |
321 | I>V | No |
ClinGen TOPMed |
|
|
rs1272995217 CA408162576 |
322 | Q>E | No |
ClinGen TOPMed |
|
|
CA408162599 rs1228250125 |
325 | I>T | No |
ClinGen TOPMed |
|
|
rs1568544592 CA408162602 |
326 | G>S | No |
ClinGen Ensembl |
|
|
rs141290228 CA311129483 |
327 | W>* | No |
ClinGen ESP |
|
|
rs773081159 CA9754042 |
328 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA408162640 rs144822618 |
329 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9754043 rs144822618 |
329 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA9754044 rs138666853 |
330 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764329209 CA9754047 |
331 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376439839 CA9754046 |
331 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408162654 rs1411421408 |
332 | M>I | No |
ClinGen gnomAD |
|
|
rs751711090 CA408162653 |
332 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs751711090 CA9754048 |
332 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA9754049 rs751711090 |
332 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs767913066 CA9754050 |
334 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1326185534 CA408162667 |
334 | P>T | No |
ClinGen TOPMed |
|
|
rs1388008336 CA408162691 |
337 | I>S | No |
ClinGen TOPMed |
|
|
rs1329539563 CA408162710 |
340 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1330211301 CA408162724 |
342 | L>F | No |
ClinGen gnomAD |
|
|
rs1330211301 CA408162723 |
342 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9754053 rs779759723 |
343 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408162734 rs1425414896 |
344 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 344 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408162743 rs1454290301 |
345 | F>C | No |
ClinGen gnomAD |
|
|
rs1174010073 CA408162758 |
347 | S>L | No |
ClinGen TOPMed |
|
|
CA9754056 rs778713614 |
349 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 355 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408162807 rs1568545642 |
355 | F>S | No |
ClinGen Ensembl |
|
|
CA9754061 rs770872887 |
356 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA408163118 rs1461927520 |
357 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1235520559 CA408163177 |
362 | R>* | No |
ClinGen gnomAD |
|
|
CA408163176 rs1235520559 |
362 | R>G | No |
ClinGen gnomAD |
|
|
rs768662345 CA9754064 |
362 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772361824 CA9754084 |
371 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408163344 rs1600520305 |
372 | T>P | No |
ClinGen Ensembl |
|
|
CA408163417 rs1359541482 |
379 | I>V | No |
ClinGen gnomAD |
|
|
COSM1412524 rs761127363 CA9754086 |
382 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs957648598 CA311130741 |
386 | Q>R | No |
ClinGen Ensembl |
|
|
rs766792956 CA9754087 |
389 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9754088 rs777342920 |
394 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs760086618 CA9754089 |
395 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9754090 rs764702330 |
396 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA408163613 rs1470303542 |
396 | Y>C | No |
ClinGen gnomAD |
|
|
rs757803716 CA9754092 |
398 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA408163631 COSM179117 rs1459774853 |
398 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1298075079 CA408163667 |
401 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9754118 rs755863738 |
404 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1264809635 CA408163776 |
407 | S>N | No |
ClinGen gnomAD |
|
|
rs1317939614 CA408163796 |
409 | L>V | No |
ClinGen gnomAD |
|
|
CA408163816 rs1235872188 |
411 | Q>E | No |
ClinGen gnomAD |
|
|
rs137924546 CA9754122 |
417 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758565107 CA9754121 |
417 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 419 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408163897 rs1425937520 |
419 | D>Y | No |
ClinGen gnomAD |
|
|
CA9754123 rs747282236 |
421 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1389450687 CA408163946 |
423 | H>Y | No |
ClinGen TOPMed |
|
|
CA408163984 rs1398270842 |
426 | N>H | No |
ClinGen gnomAD |
|
|
rs769991693 CA9754127 |
426 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9754128 rs776120248 |
427 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9754130 rs569818585 |
427 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9754129 rs569818585 |
427 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM179118 CA9754133 rs143859713 |
429 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA311130939 rs904904787 |
429 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200238442 CA9754134 |
430 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9754136 rs373419561 |
434 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408164046 rs1600520805 |
434 | D>N | No |
ClinGen Ensembl |
|
|
rs1568546111 CA408164059 |
435 | K>N | No |
ClinGen Ensembl |
|
|
CA9754138 rs754847160 |
436 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753852260 CA9754137 |
436 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1171582158 CA408164067 |
437 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1171582158 CA408164066 |
437 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765216963 CA9754139 |
442 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751720759 CA9754140 |
444 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1478425173 CA408164117 |
445 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781575008 CA9754142 |
445 | E>V | No |
ClinGen ExAC gnomAD |
No associated diseases with O95674
No regional properties for O95674
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95674 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.41 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidate cytidylyltransferase activity | Catalysis of the reaction: CTP + phosphatidate = diphosphate + CDP-diacylglycerol. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| CDP-diacylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of CDP-diacylglycerol, CDP-1,2-diacylglycerol, a substance composed of diacylglycerol in glycosidic linkage with cytidine diphosphate. |
| lipid droplet formation | A process that results in the assembly, arrangement of constituent parts of a lipid droplet. |
| phosphatidylglycerol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylglycerols, any of a class of phospholipids in which the phosphatidyl group is esterified to the hydroxyl group of glycerol. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38221 | CDS1 | Phosphatidate cytidylyltransferase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A0JNC1 | CDS2 | Phosphatidate cytidylyltransferase 2 | Bos taurus (Bovine) | PR |
| P56079 | Cds | Phosphatidate cytidylyltransferase, photoreceptor-specific | Drosophila melanogaster (Fruit fly) | PR |
| Q92903 | CDS1 | Phosphatidate cytidylyltransferase 1 | Homo sapiens (Human) | PR |
| P98191 | Cds1 | Phosphatidate cytidylyltransferase 1 | Mus musculus (Mouse) | PR |
| Q99L43 | Cds2 | Phosphatidate cytidylyltransferase 2 | Mus musculus (Mouse) | PR |
| O35052 | Cds1 | Phosphatidate cytidylyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q91XU8 | Cds2 | Phosphatidate cytidylyltransferase 2 | Rattus norvegicus (Rat) | PR |
| Q1PE48 | CDS3 | Phosphatidate cytidylyltransferase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTELRQRVAH | EPVAPPEDKE | SESEAKVDGE | TASDSESRAE | SAPLPVSADD | TPEVLNRALS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NLSSRWKNWW | VRGILTLAMI | AFFFIIIYLG | PMVLMIIVMC | VQIKCFHEII | TIGYNVYHSY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLPWFRTLSW | YFLLCVNYFF | YGETVTDYFF | TLVQREEPLR | ILSKYHRFIS | FTLYLIGFCM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FVLSLVKKHY | RLQFYMFGWT | HVTLLIVVTQ | SHLVIHNLFE | GMIWFIVPIS | CVICNDIMAY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MFGFFFGRTP | LIKLSPKKTW | EGFIGGFFAT | VVFGLLLSYV | MSGYRCFVCP | VEYNNDTNSF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TVDCEPSDLF | RLQEYNIPGV | IQSVIGWKTV | RMYPFQIHSI | ALSTFASLIG | PFGGFFASGF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KRAFKIKDFA | NTIPGHGGIM | DRFDCQYLMA | TFVNVYIASF | IRGPNPSKLI | QQFLTLRPDQ |
| 430 | 440 | ||||
| QLHIFNTLRS | HLIDKGMLTS | TTEDE |