P12268
PR
Gene name |
IMPDH2 |
Protein name |
Inosine-5'-monophosphate dehydrogenase 2 |
Names |
IMP dehydrogenase 2, IMPD 2, IMPDH 2, Inosine-5'-monophosphate dehydrogenase type II, IMP dehydrogenase II, IMPDH-II |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3615 |
EC number |
1.1.1.205: With NAD(+) or NADP(+) as acceptor |
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
23 structures for P12268
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1B3O | X-ray | 290 A | A/B | 1-514 | PDB |
| 1NF7 | X-ray | 265 A | A/B | 1-514 | PDB |
| 1NFB | X-ray | 290 A | A/B | 1-514 | PDB |
| 6I0M | X-ray | 257 A | A/B | 1-514 | PDB |
| 6I0O | X-ray | 262 A | A/B | 1-514 | PDB |
| 6U8E | EM | 303 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 6U8N | EM | 329 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-514 | PDB |
| 6U8R | EM | 391 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-514 | PDB |
| 6U8S | EM | 314 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 6U9O | EM | 336 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-514 | PDB |
| 6UA2 | EM | 420 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-514 | PDB |
| 6UA4 | EM | 365 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-514 | PDB |
| 6UA5 | EM | 379 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 6UAJ | EM | 384 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 6UC2 | EM | 448 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 6UDO | EM | 321 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-514 | PDB |
| 6UDP | EM | 295 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 6UDQ | EM | 327 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-514 | PDB |
| 8FOZ | EM | 200 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 8FUZ | EM | 210 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 8G8F | EM | 260 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| 8G9B | EM | 300 A | A/B/C/D/E/F/G/H | 1-514 | PDB |
| AF-P12268-F1 | Predicted | AlphaFoldDB |
277 variants for P12268
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs121434586 VAR_070542 RCV000015958 CA124374 |
263 | L>F | Impdh2 enzyme activity, variation in results in 10-fold decrease of enzymatic activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
| rs1419998470 | 2 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 22 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297272454 CA352748015 |
33 | N>K | No |
ClinGen TOPMed |
|
|
CA352747831 rs1195310723 |
39 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1271709232 CA352747611 |
45 | T>A | No |
ClinGen TOPMed |
|
|
rs1470181253 CA352747595 |
45 | T>I | No |
ClinGen TOPMed |
|
|
CA74019976 rs1009601321 |
48 | Q>E | No |
ClinGen gnomAD |
|
|
rs746529967 CA2390812 |
48 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA352747483 rs1253759791 |
48 | Q>R | No |
ClinGen gnomAD |
|
|
CA74019870 rs977987012 |
50 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352747064 rs1559917497 |
61 | L>V | No |
ClinGen Ensembl |
|
|
CA2390785 rs748447933 |
65 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352746873 rs1179509686 |
68 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352746773 rs1559917474 |
70 | M>I | No |
ClinGen Ensembl |
|
| rs1197979218 | 72 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352746452 rs1160229245 |
81 | A>V | No |
ClinGen TOPMed |
|
|
rs1166969157 CA352746098 |
84 | L>F | No |
ClinGen TOPMed |
|
|
rs1411988907 CA352746023 |
88 | I>V | No |
ClinGen TOPMed |
|
|
rs1575311698 CA352745965 |
90 | F>I | No |
ClinGen Ensembl |
|
|
CA2390760 rs747133983 |
91 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2390759 rs780665514 |
93 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758942412 CA2390758 |
95 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1575311672 CA352745822 |
95 | C>S | No |
ClinGen Ensembl |
|
|
CA2390753 rs757708139 |
98 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs752225800 CA2390752 |
102 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2390750 rs758924957 |
103 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs199805161 CA74019653 |
103 | E>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 104 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2390749 rs149685959 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA352745494 rs1305662877 |
106 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352744930 rs1170237980 |
119 | V>M | No |
ClinGen gnomAD |
|
|
rs1054505979 CA74019411 |
121 | L>F | No |
ClinGen TOPMed |
|
|
rs1354729350 CA352744858 |
122 | S>N | No |
ClinGen gnomAD |
|
|
rs142797363 CA352744821 |
123 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142797363 CA2390727 |
123 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776454334 CA352744770 |
124 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352744787 rs1364480763 |
124 | K>R | No |
ClinGen Ensembl |
|
|
CA2390724 rs768383713 |
125 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2390722 rs775921073 |
126 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2390723 rs775921073 |
126 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772212935 CA2390721 |
126 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772212935 CA352744727 |
126 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352744718 rs370186875 CA74019392 |
127 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1046012 rs370186875 CA352744724 |
127 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs745959513 CA2390720 |
128 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74019387 rs377521601 |
128 | R>W | No |
ClinGen ESP TOPMed |
|
|
rs1414715836 CA352744683 |
129 | D>G | No |
ClinGen gnomAD |
|
|
CA352744644 rs1274944038 |
131 | F>S | No |
ClinGen gnomAD |
|
|
rs770470670 CA74019378 |
133 | A>S | No |
ClinGen Ensembl |
|
|
rs945274890 CA352744570 |
136 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352744567 rs570950750 |
136 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2390718 rs570950750 COSM1254806 |
136 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA74019377 rs945274890 |
136 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA74019376 rs552707048 |
139 | F>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2390717 rs373928067 |
139 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756498695 COSM1670194 CA2390715 |
141 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 144 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2390714 rs746594510 |
144 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193044028 CA352744362 |
144 | I>V | No |
ClinGen TOPMed |
|
|
CA2390712 rs757852081 |
146 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs749965056 CA2390711 |
147 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352744273 rs764692244 |
149 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2390709 rs757196571 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2390710 rs764692244 |
149 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2390708 rs369552560 |
153 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2390707 rs376606970 |
153 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770969216 CA2390701 |
157 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563716357 CA2390698 |
163 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373299530 CA2390696 |
168 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2390694 rs745568749 |
169 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2390695 COSM731291 rs779639948 |
169 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs912929177 CA74019315 |
171 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756784308 CA2390691 |
172 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs753742879 CA2390690 |
173 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2390689 rs763952299 |
173 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143297725 CA2390686 |
174 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352743611 rs936958196 |
174 | F>L | No |
ClinGen TOPMed |
|
|
CA2390687 rs143297725 |
174 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352743574 rs1458568504 |
176 | E>D | No |
ClinGen TOPMed |
|
|
rs1484639426 CA352743593 |
176 | E>K | No |
ClinGen gnomAD |
|
|
rs375196719 CA2390662 |
180 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
| rs747572592 | 181 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372369639 CA352742293 |
181 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs984908095 CA74018947 |
183 | E>D | No |
ClinGen Ensembl |
|
|
rs1478551887 CA352742198 |
183 | E>Q | No |
ClinGen gnomAD |
|
|
rs370992688 CA2390660 |
186 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266625827 CA352742056 |
188 | A>V | No |
ClinGen TOPMed |
|
|
rs777127523 CA2390658 |
191 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA74018923 rs768506097 |
192 | I>V | No |
ClinGen Ensembl |
|
|
CA352741649 rs1194381242 |
201 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1339313180 CA352741617 |
202 | Q>L | No |
ClinGen gnomAD |
|
|
rs769004042 CA2390657 |
203 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1210645 CA2390656 rs761002300 |
203 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2390655 rs140737786 |
205 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2390636 rs762451630 |
210 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2390634 rs773000788 |
211 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1453128079 CA352741167 |
212 | V>I | No |
ClinGen gnomAD |
|
|
CA352741029 rs1252841516 |
215 | D>N | No |
ClinGen gnomAD |
|
|
rs1034843299 CA74018797 |
215 | D>V | No |
ClinGen TOPMed |
|
|
CA74018793 rs1002423663 |
216 | D>E | No |
ClinGen TOPMed |
|
|
CA2390631 rs747713257 |
218 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559916413 CA352740821 |
222 | I>M | No |
ClinGen Ensembl |
|
|
rs373752085 CA2390629 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377463111 CA2390630 COSM1423862 |
224 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352740794 rs1351616696 |
225 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352740438 rs1351155503 |
240 | A>V | No |
ClinGen gnomAD |
|
|
CA2390622 rs779164229 |
246 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs757304269 CA2390621 |
246 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2390620 rs753958492 |
248 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2390615 rs760008447 |
250 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs767704477 CA2390616 COSM1670193 |
250 | I>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767704477 CA352740206 |
250 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753258609 CA2390617 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352740159 rs1179690094 |
252 | T>I | No |
ClinGen TOPMed |
|
|
rs1382259568 CA352740119 |
254 | E>D | No |
ClinGen TOPMed |
|
|
CA74018704 rs771647809 |
255 | D>N | No |
ClinGen gnomAD |
|
|
rs761591592 CA2390612 |
256 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2390613 rs765026618 |
256 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219770046 CA352740055 |
257 | K>R | No |
ClinGen gnomAD |
|
|
rs776234281 CA2390611 |
258 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs768227690 CA2390610 |
259 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA352739997 rs1575310132 |
261 | D>G | No |
ClinGen Ensembl |
|
|
rs370664735 CA2390608 |
264 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352739943 rs1157743548 |
264 | A>V | No |
ClinGen Ensembl |
|
|
CA74018687 rs886766695 |
267 | G>V | No |
ClinGen TOPMed |
|
|
CA352739840 rs1575310113 |
270 | V>I | No |
ClinGen Ensembl |
|
|
CA2390604 rs757430074 |
271 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs151081203 CA2390605 CA2390606 |
271 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352739719 rs1475010300 |
274 | D>G | No |
ClinGen gnomAD |
|
|
CA352739620 rs1484143357 |
280 | S>Y | No |
ClinGen gnomAD |
|
|
CA352739592 rs1402430681 |
281 | I>T | No |
ClinGen TOPMed |
|
|
rs1230938867 CA352739599 |
281 | I>V | No |
ClinGen gnomAD |
|
|
CA74018597 rs368925413 |
285 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA352739489 rs1230857404 |
286 | M>I | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 288 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333518939 CA352739409 |
290 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs974680675 CA74018585 |
290 | I>M | No |
ClinGen gnomAD |
|
|
CA2390581 rs748304890 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1333518939 CA352739411 |
290 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352739336 rs1307280038 |
294 | Y>H | No |
ClinGen TOPMed |
|
|
CA352739315 rs1448193224 |
295 | P>L | No |
ClinGen gnomAD |
|
|
CA352739321 rs1184891339 |
295 | P>S | No |
ClinGen gnomAD |
|
|
CA2390578 rs780501815 |
296 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA352739303 rs1323974599 |
296 | N>K | No |
ClinGen gnomAD |
|
|
CA2390577 rs780501815 |
296 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352739295 rs1217249539 |
297 | L>F | No |
ClinGen TOPMed |
|
|
rs1461046148 CA352739272 |
299 | V>L | No |
ClinGen gnomAD |
|
|
rs145018320 CA2390576 |
300 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352739237 rs1319263498 |
301 | G>E | No |
ClinGen TOPMed |
|
|
rs1167229574 CA352739241 |
301 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74018498 rs147436894 |
305 | V>I | No |
ClinGen ESP |
|
|
CA2390560 rs554810586 |
306 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768864324 CA2390559 |
307 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758814432 CA2390556 |
312 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs147561281 CA2390555 |
313 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352738981 rs1216863415 |
314 | I>L | No |
ClinGen gnomAD |
|
|
rs368466461 CA2390554 |
314 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352738920 rs1234235360 |
317 | G>D | No |
ClinGen gnomAD |
|
|
CA2390553 rs755742896 |
318 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2390552 rs752303460 |
319 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 319 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352738863 rs1380672425 |
321 | L>M | No |
ClinGen gnomAD |
|
|
rs754546292 CA2390550 COSM3775142 |
322 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766946451 CA352738847 |
322 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171468237 CA352738815 |
324 | G>D | No |
ClinGen gnomAD |
|
|
rs751483549 CA2390549 |
324 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1465495210 CA352738774 |
326 | G>A | No |
ClinGen gnomAD |
|
|
CA74018428 rs900843262 |
328 | G>S | No |
ClinGen TOPMed |
|
|
rs1378066051 CA352738731 |
329 | S>F | No |
ClinGen gnomAD |
|
|
CA2390548 rs766349102 |
330 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1261804434 CA352738704 |
331 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1022726129 CA74018424 |
332 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352738658 rs1489042065 |
333 | T>M | Variant assessed as Somatic; 4.747e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352738663 rs1575309729 |
333 | T>S | No |
ClinGen Ensembl |
|
|
rs141930543 CA2390546 |
334 | Q>* | No |
ClinGen ESP ExAC TOPMed |
|
|
rs201965301 CA74016265 |
337 | L>P | No |
ClinGen gnomAD |
|
|
rs1173661177 CA352737434 |
339 | C>R | No |
ClinGen gnomAD |
|
|
CA74016263 rs1046792272 |
345 | T>I | No |
ClinGen TOPMed |
|
|
rs1470317235 CA352737278 |
347 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 354 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74016252 rs772128759 |
358 | G>A | No |
ClinGen TOPMed |
|
|
rs1486298301 CA352736829 |
366 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352736777 rs1325612061 |
369 | N>T | No |
ClinGen TOPMed |
|
|
rs878872594 CA74016237 |
370 | V>A | No |
ClinGen Ensembl |
|
|
rs753646480 CA2390503 |
370 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760922337 CA2390501 |
373 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764002692 CA2390502 COSM3380625 |
373 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1275707815 CA352736666 |
374 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2390499 rs201535692 |
376 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352736502 rs1183534367 |
380 | G>R | No |
ClinGen TOPMed |
|
|
rs774897225 CA2390497 |
384 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752953019 CA2390481 |
386 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1310959844 COSM1309248 CA352736261 |
388 | S>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2390478 rs751550077 |
391 | A>T | No |
ClinGen ExAC |
|
| TCGA novel | 397 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352735897 rs866481725 |
401 | F>I | No |
ClinGen TOPMed |
|
|
CA74016096 rs866481725 |
401 | F>V | No |
ClinGen TOPMed |
|
|
rs1193569034 CA352735867 |
401 | F>Y | No |
ClinGen TOPMed |
|
|
CA2390474 rs770132865 |
403 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291046761 CA352735754 |
404 | D>N | No |
ClinGen gnomAD |
|
|
CA352735634 rs1362538015 |
407 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1168590673 CA352735644 |
407 | R>W | No |
ClinGen TOPMed |
|
|
rs779322486 CA2390470 COSM1670192 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1012899208 CA74016079 |
412 | R>H | No |
ClinGen gnomAD |
|
|
CA352735475 COSM1742636 rs894493073 |
413 | G>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA74016075 rs894493073 |
413 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA74016072 rs72553872 |
414 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs72553872 CA352735427 |
414 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA74016061 rs11557540 |
418 | D>G | No |
ClinGen Ensembl |
|
|
CA74016064 rs1035592036 |
418 | D>N | No |
ClinGen gnomAD |
|
|
CA2390467 rs770569594 |
421 | D>Y | No |
ClinGen ExAC |
|
|
rs1002815120 CA74016058 |
422 | K>E | No |
ClinGen gnomAD |
|
|
rs1575308270 CA352735188 |
423 | H>P | No |
ClinGen Ensembl |
|
|
rs886943512 CA74016057 |
423 | H>Y | No |
ClinGen gnomAD |
|
|
rs1006463705 CA74016052 |
426 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748856103 CA2390447 |
432 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA74015978 rs773248565 |
434 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942359605 CA74015984 |
434 | A>T | No |
ClinGen Ensembl |
|
|
CA2390446 rs773248565 |
434 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769810267 CA2390445 |
437 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352734638 rs1254819648 |
438 | K>T | No |
ClinGen gnomAD |
|
|
CA2390444 rs748137103 |
440 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs756584787 CA74015965 |
442 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 444 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352734378 rs1340047186 |
445 | G>D | No |
ClinGen gnomAD |
|
|
rs1217048094 CA352734393 |
445 | G>R | No |
ClinGen gnomAD |
|
|
rs1049578315 CA74015957 |
447 | V>M | No |
ClinGen TOPMed |
|
|
rs758445136 CA2390437 |
450 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352734158 rs1359255412 |
451 | G>R | No |
ClinGen gnomAD |
|
|
CA352734155 rs1359255412 |
451 | G>W | No |
ClinGen gnomAD |
|
|
CA352734142 rs1575308024 |
452 | S>A | No |
ClinGen Ensembl |
|
|
CA352734109 rs1460021836 |
453 | I>M | No |
ClinGen TOPMed |
|
|
rs1177890498 CA352734124 |
453 | I>V | No |
ClinGen gnomAD |
|
|
rs76236780 CA2390436 |
455 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352733994 rs1422557723 |
456 | F>C | No |
ClinGen gnomAD |
|
|
CA352734021 rs1422557723 |
456 | F>S | No |
ClinGen gnomAD |
|
|
rs1185525437 CA352733949 |
457 | V>G | No |
ClinGen TOPMed |
|
|
CA352733967 rs1193913896 |
457 | V>I | No |
ClinGen gnomAD |
|
|
CA74015930 rs753191118 |
461 | I>T | No |
ClinGen gnomAD |
|
|
CA352733816 rs1254463673 |
462 | A>G | No |
ClinGen gnomAD |
|
|
CA352733699 rs1177716198 |
465 | Q>* | No |
ClinGen TOPMed |
|
|
CA352733598 rs1361836543 |
468 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 473 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2390433 rs754372656 |
475 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1159046030 CA352733339 |
477 | T>S | No |
ClinGen TOPMed |
|
|
rs933604177 COSM1210646 CA74015922 |
478 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2390432 rs764359655 |
479 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2390431 rs761159150 COSM271316 |
480 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310249336 CA352733293 |
480 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs72624919 CA74015856 |
485 | S>C | No |
ClinGen Ensembl |
|
|
rs746104988 CA2390418 |
487 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA74015852 rs951338019 |
489 | K>R | No |
ClinGen Ensembl |
|
|
CA2390416 rs757423578 COSM1046007 |
494 | T>M | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1458784830 CA352732852 |
497 | A>G | No |
ClinGen gnomAD |
|
|
rs754285040 CA2390415 |
498 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA74015829 rs898365202 |
500 | E>G | No |
ClinGen Ensembl |
|
|
rs1439566242 CA352732759 |
501 | G>D | No |
ClinGen gnomAD |
|
|
CA2390410 rs762633476 |
503 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs201681745 CA2390411 |
503 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352732634 rs1210637527 |
506 | L>I | No |
ClinGen gnomAD |
|
|
rs750101189 CA2390409 |
508 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352732493 rs1394197728 |
509 | Y>C | No |
ClinGen gnomAD |
|
|
rs1413223202 CA352732488 |
510 | E>K | No |
ClinGen gnomAD |
|
|
rs1421831576 CA352732425 |
512 | R>Q | No |
ClinGen gnomAD |
|
|
CA2390388 rs763525578 |
512 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P12268
4 regional properties for P12268
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CBS domain | 114 - 173 | IPR000644-1 |
| domain | CBS domain | 176 - 237 | IPR000644-2 |
| domain | IMP dehydrogenase/GMP reductase | 29 - 504 | IPR001093 |
| conserved_site | IMP dehydrogenase / GMP reductase, conserved site | 321 - 333 | IPR015875 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.1.1.205 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| identical protein binding | Binding to an identical protein or proteins. |
| IMP dehydrogenase activity | Catalysis of the reaction: inosine 5'-phosphate + NAD+ + H2O = xanthosine 5'-phosphate + NADH + H+. |
| metal ion binding | Binding to a metal ion. |
| nucleotide binding | Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| 'de novo' XMP biosynthetic process | The chemical reactions and pathways resulting in the formation of XMP, xanthosine monophosphate, from simpler precursors. |
| cellular response to interleukin-4 | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| GMP biosynthetic process | The chemical reactions and pathways resulting in the formation of GMP, guanosine monophosphate. |
| GTP biosynthetic process | The chemical reactions and pathways resulting in the formation of GTP, guanosine triphosphate. |
| lymphocyte proliferation | The expansion of a lymphocyte population by cell division. |
| retina development in camera-type eye | The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F7CYY5 | impdh2 | Inosine-5'-monophosphate dehydrogenase 2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADYLISGGT | SYVPDDGLTA | QQLFNCGDGL | TYNDFLILPG | YIDFTADQVD | LTSALTKKIT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKTPLVSSPM | DTVTEAGMAI | AMALTGGIGF | IHHNCTPEFQ | ANEVRKVKKY | EQGFITDPVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSPKDRVRDV | FEAKARHGFC | GIPITDTGRM | GSRLVGIISS | RDIDFLKEEE | HDCFLEEIMT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KREDLVVAPA | GITLKEANEI | LQRSKKGKLP | IVNEDDELVA | IIARTDLKKN | RDYPLASKDA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KKQLLCGAAI | GTHEDDKYRL | DLLAQAGVDV | VVLDSSQGNS | IFQINMIKYI | KDKYPNLQVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GGNVVTAAQA | KNLIDAGVDA | LRVGMGSGSI | CITQEVLACG | RPQATAVYKV | SEYARRFGVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VIADGGIQNV | GHIAKALALG | ASTVMMGSLL | AATTEAPGEY | FFSDGIRLKK | YRGMGSLDAM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DKHLSSQNRY | FSEADKIKVA | QGVSGAVQDK | GSIHKFVPYL | IAGIQHSCQD | IGAKSLTQVR |
| 490 | 500 | 510 | |||
| AMMYSGELKF | EKRTSSAQVE | GGVHSLHSYE | KRLF |