P09543
PR
Gene name |
CNP |
Protein name |
2',3'-cyclic-nucleotide 3'-phosphodiesterase |
Names |
CNP, CNPase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1267 |
EC number |
3.1.4.37: Phosphoric diester 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
2 structures for P09543
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WOJ | X-ray | 180 A | A | 186-399 | PDB |
| AF-P09543-F1 | Predicted | AlphaFoldDB |
303 variants for P09543
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8569461 RCV001072109 rs199923805 |
20 | K>R | Myopia 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs199923805 CA399542127 RCV001072104 |
20 | K>T | Myopia 2, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2050933471 RCV001263540 VAR_085056 |
82 | S>L | Leukodystrophy, hypomyelinating, 20 HLD20; unknown pathological significance; decreased protein levels in patient cells [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs782532165 RCV001072110 CA8569627 RCV003160197 |
339 | V>I | Myopia 2, autosomal dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001072108 rs2051026773 |
345 | G>D | Myopia 2, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002536174 CA8569640 rs376643712 RCV000850468 |
353 | R>W | Marfanoid habitus and intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA399541616 rs1280145441 |
2 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1334157721 CA399541761 |
6 | S>F | No |
ClinGen TOPMed |
|
|
rs1305166537 CA399541825 |
9 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8569451 rs782292316 |
11 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365336192 CA399541920 |
11 | T>K | No |
ClinGen TOPMed |
|
|
CA399541970 rs1386319140 |
14 | P>L | No |
ClinGen TOPMed |
|
|
rs1598100447 CA399541987 |
15 | K>R | No |
ClinGen Ensembl |
|
|
rs568875137 CA8569454 |
16 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs368453560 CA8569455 |
17 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs782370320 | 18 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201303711 CA8569459 |
19 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs782181859 CA8569460 |
19 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399542113 rs782181859 |
19 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972961476 CA290711600 |
20 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1266438832 CA399542174 |
22 | S>P | No |
ClinGen TOPMed |
|
|
CA8569463 rs782121613 |
25 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA399542212 rs1217685824 |
25 | G>R | No |
ClinGen TOPMed |
|
|
CA8569464 rs782771397 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399542235 rs1555643196 |
26 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs927838823 CA290711601 |
30 | P>A | No |
ClinGen gnomAD |
|
|
rs1283506174 CA399542309 |
30 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs927838823 CA399542296 |
30 | P>T | No |
ClinGen gnomAD |
|
|
CA290711602 rs939390397 |
37 | L>F | No |
ClinGen Ensembl |
|
|
CA399542473 rs1327126519 |
41 | D>V | No |
ClinGen TOPMed |
|
|
rs782088799 CA8569466 |
45 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555643204 CA399542590 |
48 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399542660 rs1555643207 |
51 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782788519 CA8569470 |
56 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555643211 CA399542754 |
57 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399542795 rs1327478290 |
60 | G>V | No |
ClinGen TOPMed |
|
|
rs1318218612 CA399542814 |
62 | G>D | No |
ClinGen TOPMed |
|
|
rs1399503893 CA399542847 |
64 | S>C | No |
ClinGen TOPMed |
|
|
rs368980681 CA8569472 |
69 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399542912 rs368980681 |
69 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8569473 rs782599531 |
70 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399543056 rs1598100611 |
75 | R>H | No |
ClinGen Ensembl |
|
|
rs781970302 CA290711603 |
75 | R>S | No |
ClinGen Ensembl |
|
|
rs1598100614 CA399543138 |
79 | K>E | No |
ClinGen Ensembl |
|
|
CA290711605 rs946697398 |
79 | K>N | No |
ClinGen TOPMed |
|
|
rs1555643223 CA399543167 |
80 | M>I | No |
ClinGen gnomAD |
|
|
CA290711607 rs902752168 |
83 | A>T | No |
ClinGen Ensembl |
|
|
CA8569477 rs782683469 |
84 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399543365 rs1598100650 |
89 | T>P | No |
ClinGen Ensembl |
|
|
rs902026818 CA290711608 |
92 | A>T | No |
ClinGen gnomAD |
|
|
rs374975038 CA8569480 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs997851332 CA290711609 |
94 | G>R | No |
ClinGen Ensembl |
|
|
CA8569481 rs782349606 |
95 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399543469 rs1555643234 |
95 | A>T | No |
ClinGen gnomAD |
|
|
CA399543490 rs782349606 |
95 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569484 rs782430594 |
97 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs782128196 CA8569486 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA399543637 rs1555643239 |
102 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399543737 rs1598100717 |
106 | D>A | No |
ClinGen Ensembl |
|
|
CA399543767 rs1276797306 |
108 | A>T | No |
ClinGen TOPMed |
|
|
rs1598100730 CA399543802 |
110 | Y>S | No |
ClinGen Ensembl |
|
|
CA399543826 rs1555643241 |
112 | R>H | No |
ClinGen Ensembl |
|
|
CA8569488 rs781840726 |
114 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555643246 CA399543937 |
121 | L>F | No |
ClinGen gnomAD |
|
|
CA290711611 rs1005160562 |
127 | E>G | No |
ClinGen Ensembl |
|
|
CA8569490 rs782697853 |
127 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs369730150 CA8569491 |
128 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376807231 CA290711612 |
128 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 130 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200196656 CA8569494 |
132 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1598100806 CA399544098 |
133 | Q>E | No |
ClinGen Ensembl |
|
|
rs1172049053 CA399544149 CA399544150 |
139 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1555643267 CA399544152 |
140 | Q>E | No |
ClinGen gnomAD |
|
|
rs1598100853 CA399544209 |
147 | L>R | No |
ClinGen Ensembl |
|
|
rs1446297823 CA399544237 |
151 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8569499 rs782684248 COSM1135934 |
153 | A>V | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA399544275 rs1243707392 |
157 | D>E | No |
ClinGen TOPMed |
|
|
rs782289421 CA8569500 |
163 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399544334 rs1184230767 |
165 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781989129 CA8569502 |
168 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399544375 rs1555643290 |
170 | S>L | No |
ClinGen gnomAD |
|
|
CA8569503 rs782103729 |
171 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569505 rs781913039 |
172 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs927755907 CA290711615 |
174 | L>V | No |
ClinGen Ensembl |
|
|
CA8569506 rs72820845 |
175 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782789993 CA8569507 |
176 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399544432 rs1555643306 |
179 | P>S | No |
ClinGen gnomAD |
|
|
rs781874635 CA8569508 |
180 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs782706213 | 183 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399544500 rs1376339908 |
189 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 191 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8569514 rs782563601 |
193 | F>C | No |
ClinGen ExAC TOPMed |
|
|
rs1598101040 CA399544527 |
193 | F>V | No |
ClinGen Ensembl |
|
|
rs1598101054 CA399544544 |
196 | K>Q | No |
ClinGen Ensembl |
|
|
rs1598101059 CA399544565 |
198 | S>I | No |
ClinGen Ensembl |
|
|
rs1598101072 CA399544582 |
201 | T>P | No |
ClinGen Ensembl |
|
|
rs372512737 CA8569517 COSM1580722 |
203 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8569518 COSM1135935 rs372029848 |
203 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs372512737 CA399544594 |
203 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569519 rs782494339 |
204 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8569520 rs782613555 |
205 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782427960 CA8569522 |
206 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34353668 VAR_033746 CA8569524 |
207 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200715497 CA8569526 |
212 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290711618 rs1016983936 |
214 | G>A | No |
ClinGen Ensembl |
|
|
rs1293041289 CA399544674 |
215 | N>K | No |
ClinGen TOPMed |
|
|
rs896828998 CA290711619 |
218 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs368519950 CA8569528 |
218 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399544698 rs1555643330 |
219 | F>V | No |
ClinGen gnomAD |
|
|
CA290711620 rs1034941481 |
220 | K>E | No |
ClinGen Ensembl |
|
|
CA399544709 rs1555643333 |
220 | K>M | No |
ClinGen gnomAD |
|
|
rs1555643335 CA399544713 |
221 | K>E | No |
ClinGen gnomAD |
|
|
rs781922862 CA8569529 |
221 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223882010 CA399544719 |
222 | E>K | No |
ClinGen TOPMed |
|
|
rs960647116 CA290711621 |
224 | R>P | No |
ClinGen gnomAD |
|
|
rs960647116 CA399544734 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399544745 rs1555643346 |
226 | F>L | No |
ClinGen gnomAD |
|
|
CA399546545 rs781900322 |
226 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs782532988 CA8569555 |
227 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781846708 CA8569557 |
229 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598104399 CA399546626 |
230 | D>G | No |
ClinGen Ensembl |
|
|
rs1378512663 CA399546619 |
230 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399546617 rs1378512663 |
230 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782496835 CA8569558 |
231 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399546680 rs1454802404 |
233 | R>K | No |
ClinGen TOPMed |
|
|
COSM1580724 rs199706471 CA8569559 |
235 | K>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377734705 CA8569560 |
236 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555643871 CA399546761 |
237 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 239 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262869525 CA399546819 |
240 | T>S | No |
ClinGen TOPMed |
|
|
CA399546864 rs1205015372 |
242 | F>L | No |
ClinGen TOPMed |
|
|
rs1555643879 CA399546875 |
243 | G>A | No |
ClinGen gnomAD |
|
|
rs1555643882 CA399546888 |
244 | K>E | No |
ClinGen gnomAD |
|
| rs1352175001 | 247 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782282780 CA8569563 |
249 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782282780 CA8569564 |
249 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374449448 CA8569565 |
250 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399547099 rs1555643887 |
252 | C>Y | No |
ClinGen gnomAD |
|
|
CA399547368 rs1555643890 |
260 | G>E | No |
ClinGen gnomAD |
|
|
rs1555643892 CA399547406 |
262 | A>T | No |
ClinGen TOPMed |
|
|
CA8569567 rs782346718 |
262 | A>V | No |
ClinGen ExAC |
|
|
CA399547425 rs200309815 |
263 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569568 rs200309815 |
263 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048695349 CA290711872 |
264 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8569570 rs781876675 |
264 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399547468 COSM1588867 rs1435402969 |
265 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1394571121 CA399547496 |
266 | E>Q | No |
ClinGen TOPMed |
|
|
rs1555643897 CA399547529 |
267 | E>D | No |
ClinGen gnomAD |
|
|
rs1476530258 CA399547553 |
269 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8569572 rs766499063 |
269 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782737517 CA8569573 |
271 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1219685817 CA399547665 |
273 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs568335984 CA399547674 |
274 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399547713 rs1555644151 |
279 | S>C | No |
ClinGen gnomAD |
|
|
rs1397254927 CA399547721 |
280 | K>M | No |
ClinGen TOPMed |
|
|
CA399547720 rs1397254927 |
280 | K>R | No |
ClinGen TOPMed |
|
|
CA8569592 rs782078035 COSM1383286 |
283 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399547753 rs1555644157 |
285 | T>I | No |
ClinGen gnomAD |
|
|
rs201557422 CA290712000 |
286 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 291 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8569595 rs782157834 |
294 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749007400 CA8569596 |
295 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569598 rs370800761 |
298 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs530005161 CA399547833 |
299 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199688240 CA8569601 |
299 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199688240 COSM1141140 CA8569600 |
299 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs530005161 CA8569599 |
299 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs62076903 CA290712001 |
300 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 301 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399547856 rs1181446814 |
303 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399547855 rs1181446814 |
303 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199535375 CA8569604 |
304 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8569605 rs200742095 |
305 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8569606 rs782225791 |
308 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399547915 rs1555644169 |
310 | W>C | No |
ClinGen gnomAD |
|
|
CA8569607 rs782472388 |
311 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399547944 rs1598105920 |
312 | S>R | No |
ClinGen Ensembl |
|
|
CA8569610 rs782414384 |
313 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555644171 CA399547985 |
315 | D>V | No |
ClinGen gnomAD |
|
|
rs1555644172 CA399548018 |
317 | L>P | No |
ClinGen gnomAD |
|
|
CA399548030 rs1555644174 |
318 | S>L | No |
ClinGen gnomAD |
|
|
CA8569612 rs782261384 |
319 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs371715005 CA399548041 |
319 | P>H | No |
ClinGen ESP TOPMed |
|
|
rs371715005 CA399548045 |
319 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA399548038 rs782261384 |
319 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782252776 CA290712002 |
320 | T>A | No |
ClinGen Ensembl |
|
|
CA8569613 rs782375707 |
323 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8569614 rs34044046 |
324 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34044046 CA399548120 |
324 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8569617 rs570548839 |
325 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199970993 CA8569616 |
325 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399548147 rs1295173775 |
326 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399548145 rs1295173775 |
326 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs372024910 CA8569618 |
328 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782764243 CA8569619 |
328 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782764243 CA399548174 |
328 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569621 rs782481884 |
329 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457546709 CA399548199 |
330 | H>R | No |
ClinGen TOPMed |
|
|
rs1598106003 CA399548210 |
331 | I>V | No |
ClinGen Ensembl |
|
|
rs1598106008 CA399548226 |
332 | T>P | No |
ClinGen Ensembl |
|
|
CA290712003 rs940104617 |
332 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 333 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782439120 CA8569624 |
334 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA399548277 rs1555644195 |
335 | C>F | No |
ClinGen gnomAD |
|
|
CA8569626 rs200478952 |
338 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555644197 CA399548322 |
338 | D>G | No |
ClinGen gnomAD |
|
|
rs782630033 CA8569628 |
339 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs369504990 CA8569629 |
341 | A>T | No |
ClinGen ESP ExAC |
|
|
rs781940101 CA399548382 |
342 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569631 rs781940101 |
342 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569632 rs782189743 |
343 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
COSM4130074 CA8569633 rs534388905 |
344 | T>M | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1555644204 CA399548428 |
345 | G>S | No |
ClinGen gnomAD |
|
|
rs1387173121 CA399548453 |
346 | L>F | No |
ClinGen TOPMed |
|
|
rs1555644206 CA399548491 |
347 | D>E | No |
ClinGen Ensembl |
|
|
rs782752987 CA8569636 |
348 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555644210 CA399548514 |
348 | L>R | No |
ClinGen gnomAD |
|
|
rs782066235 CA399548520 |
349 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399548607 rs1422758284 |
351 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8569641 rs782146999 |
353 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8569643 rs782772375 |
355 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399548672 rs1362329794 |
355 | E>K | No |
ClinGen TOPMed |
|
|
rs782480365 CA8569645 |
356 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782444637 CA8569649 |
357 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA399548736 rs781812372 |
357 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8569648 rs781812372 |
357 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 358 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8569651 rs782284945 |
358 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782284945 CA399548763 |
358 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569650 rs782687743 |
358 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs201266482 CA8569652 |
360 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8569653 rs376149897 |
360 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215318444 CA399548803 |
361 | G>S | No |
ClinGen TOPMed |
|
|
rs1233686693 CA399548848 |
362 | E>D | No |
ClinGen TOPMed |
|
|
rs782315979 CA8569655 |
362 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569657 rs782166517 |
363 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372778050 CA8569656 |
363 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536184459 CA290712006 |
364 | V>G | No |
ClinGen 1000Genomes |
|
|
rs782003027 CA8569659 |
366 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA399548924 rs1555644236 |
366 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs998291648 CA290712008 |
369 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8569660 rs202171457 COSM1520926 |
369 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370644988 CA8569661 |
370 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8569662 rs781822198 |
372 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs782067807 CA8569663 |
373 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569664 rs782698086 |
374 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555644240 CA399549142 |
374 | S>Y | No |
ClinGen gnomAD |
|
|
rs781913833 CA8569665 |
376 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399549199 rs781913833 |
376 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782540990 CA8569666 |
377 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399549244 rs1479074785 |
378 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8569667 rs782657028 |
379 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782657028 CA399549248 |
379 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399549270 rs1598106261 |
380 | W>R | No |
ClinGen Ensembl |
|
|
CA399549341 rs1016790393 |
383 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA290712010 rs1016790393 |
383 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782456858 CA399549369 |
385 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs782456858 CA8569669 |
385 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782587919 CA8569670 |
386 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399549377 rs1555644251 |
386 | K>R | No |
ClinGen gnomAD |
|
|
rs782174330 CA8569671 |
388 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA399549401 rs782174330 |
388 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8569672 rs782433845 |
389 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782661998 CA8569673 |
391 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs575459583 CA8569674 |
392 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8569675 rs782378608 |
395 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324778407 CA399549528 |
397 | Y>C | No |
ClinGen TOPMed |
|
|
rs782166990 CA8569680 |
401 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA399549589 rs1174684790 |
403 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8569682 rs782007705 |
405 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8569681 rs782811736 |
405 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA290712012 rs782096149 |
406 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569683 rs782096149 |
406 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424953656 CA399549637 |
407 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs781801992 CA8569686 |
407 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555644266 CA399549646 |
407 | Q>R | No |
ClinGen gnomAD |
|
|
CA8569687 rs782800795 |
408 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs781883394 CA8569688 |
408 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372142717 CA8569690 |
410 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8569689 rs540321367 |
410 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399549703 rs1555644268 |
412 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458095475 CA399549719 |
413 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399549722 rs1458095475 |
413 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1555644270 CA399549731 |
414 | A>D | No |
ClinGen gnomAD |
|
|
rs1212744697 CA399549725 |
414 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA290712014 rs1052794149 |
415 | L>F | No |
ClinGen Ensembl |
|
|
rs782266279 CA8569698 |
421 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782436524 CA8569696 |
421 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1382298181 CA399549822 |
421 | I>M | No |
ClinGen TOPMed |
|
|
CA8569699 rs782266279 |
421 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8569697 rs782020383 |
421 | I>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with P09543
[MIM: 619071]: Leukodystrophy, hypomyelinating, 20 (HLD20)
An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging. {ECO:0000269|PubMed:32128616}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging. {ECO:0000269|PubMed:32128616}. Note=The disease may be caused by variants affecting the gene represented in this entry.
1 regional properties for P09543
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cyclic nucleotide phosphodiesterase, catalytic domain | 186 - 420 | IPR047325 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.37 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| 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. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| myelin sheath abaxonal region | The region of the myelin sheath furthest from the axon. |
| myelin sheath adaxonal region | The region of the myelin sheath nearest to the axon. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| pseudopodium | A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity | Catalysis of the reaction: nucleoside 2',3'-cyclic phosphate + H2O = nucleoside 2'-phosphate. |
| cyclic nucleotide binding | Binding to a cyclic nucleotide, a nucleotide in which the phosphate group is in diester linkage to two positions on the sugar residue. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| adult locomotory behavior | Locomotory behavior in a fully developed and mature organism. |
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| cyclic nucleotide catabolic process | The chemical reactions and pathways resulting in the breakdown of a cyclic nucleotide, a nucleotide in which the phosphate group is in diester linkage to two positions on the sugar residue. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| regulation of mitochondrial membrane permeability | Any process that modulates the frequency, rate or extent of the passage or uptake of molecules by the mitochondrial membrane. |
| response to lipopolysaccharide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
| substantia nigra development | The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis). |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P06623 | CNP | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Bos taurus (Bovine) | PR |
| Q92802 | N4BP2L2 | NEDD4-binding protein 2-like 2 | Homo sapiens (Human) | PR |
| P16330 | Cnp | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Mus musculus (Mouse) | PR |
| P13233 | Cnp | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRGFSRKSH | TFLPKIFFRK | MSSSGAKDKP | ELQFPFLQDE | DTVATLLECK | TLFILRGLPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGKSTLARVI | VDKYRDGTKM | VSADAYKITP | GARGAFSEEY | KRLDEDLAAY | CRRRDIRILV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDDTNHERER | LEQLFEMADQ | YQYQVVLVEP | KTAWRLDCAQ | LKEKNQWQLS | ADDLKKLKPG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LEKDFLPLYF | GWFLTKKSSE | TLRKAGQVFL | EELGNHKAFK | KELRQFVPGD | EPREKMDLVT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YFGKRPPGVL | HCTTKFCDYG | KAPGAEEYAQ | QDVLKKSYSK | AFTLTISALF | VTPKTTGARV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELSEQQLQLW | PSDVDKLSPT | DNLPRGSRAH | ITLGCAADVE | AVQTGLDLLE | ILRQEKGGSR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GEEVGELSRG | KLYSLGNGRW | MLTLAKNMEV | RAIFTGYYGK | GKPVPTQGSR | KGGALQSCTI |
| I |