O60825
PR
Gene name |
PFKFB2 |
Protein name |
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 |
Names |
6PF-2-K/Fru-2,6-P2ase 2, PFK/FBPase 2, 6PF-2-K/Fru-2,6-P2ase heart-type isozyme |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5208 |
EC number |
3.1.3.46: 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
2 structures for O60825
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5HTK | X-ray | 201 A | A/B | 1-505 | PDB |
| AF-O60825-F1 | Predicted | AlphaFoldDB |
318 variants for O60825
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1333052850 CA344500237 |
3 | G>E | No |
ClinGen TOPMed |
|
|
CA1366673 rs747575332 |
6 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344500329 rs1258742601 |
9 | Q>K | No |
ClinGen gnomAD |
|
|
CA1366674 rs757523612 |
11 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs147250602 CA1366675 |
12 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344500411 rs1253911170 |
12 | N>S | No |
ClinGen gnomAD |
|
|
rs1377504147 CA344500449 |
14 | Y>C | No |
ClinGen TOPMed |
|
|
rs1381561045 CA344500489 |
16 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572715668 CA344500563 |
21 | L>V | No |
ClinGen Ensembl |
|
|
rs868372519 CA36595437 |
22 | R>* | No |
ClinGen TOPMed |
|
|
rs541295353 CA344500588 |
22 | R>P | No |
ClinGen gnomAD |
|
|
CA36595458 rs541295353 |
22 | R>Q | No |
ClinGen gnomAD |
|
|
rs774949798 CA1366678 |
23 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1462660383 CA344500638 |
25 | E>D | No |
ClinGen gnomAD |
|
|
CA344500659 rs1326125807 |
27 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344500698 rs1558056631 |
29 | S>P | No |
ClinGen Ensembl |
|
|
rs879360833 CA36602602 |
32 | S>F | No |
ClinGen Ensembl |
|
|
CA36602600 rs904063457 |
32 | S>P | No |
ClinGen TOPMed |
|
|
rs757817373 CA1366693 |
34 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372621164 CA1366694 |
38 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1261974 CA344502218 rs1440501295 |
39 | T>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1366697 rs779520683 |
42 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767982799 CA1366699 |
43 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1366698 rs748997601 |
43 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342661237 CA344502268 |
47 | P>L | No |
ClinGen TOPMed |
|
|
rs778496226 CA1366700 |
48 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1054562775 CA36602638 |
49 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs377086278 CA1366701 |
49 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1203971874 CA344502302 |
53 | Y>F | No |
ClinGen gnomAD |
|
|
CA1366703 rs142450533 |
54 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344502335 rs1359217225 |
58 | L>R | No |
ClinGen TOPMed |
|
|
CA344502346 rs1335499341 COSM1338374 COSM1338375 |
60 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA344502347 rs1416621970 |
60 | R>H | No |
ClinGen TOPMed |
|
|
rs770872328 CA1366705 |
61 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775535860 CA1366706 |
63 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344502363 rs1471577175 |
63 | N>Y | No |
ClinGen gnomAD |
|
|
CA1366708 rs764023717 |
64 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1366709 rs751726239 |
65 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 67 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344502396 rs1420545915 |
68 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 70 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 72 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761181176 CA1366731 |
76 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA344502463 rs1310257702 |
76 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 78 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1338377 COSM1338376 rs766636539 CA1366732 |
78 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 79 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274763372 CA344502482 |
79 | R>H | No |
ClinGen gnomAD |
|
|
rs1374736166 CA344502484 |
80 | E>K | No |
ClinGen TOPMed |
|
|
CA344502517 rs1343576153 |
84 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754298949 CA1366733 |
85 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344502528 rs1360704563 |
86 | K>T | No |
ClinGen TOPMed |
|
|
rs754558885 CA1366734 |
88 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752423669 CA1366736 |
89 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1366738 rs150442637 |
92 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757942412 CA1366737 |
92 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344502574 rs1375859166 |
93 | H>P | No |
ClinGen gnomAD |
|
|
CA1366739 rs746887791 |
93 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA344502605 rs1471124270 |
97 | E>K | No |
ClinGen gnomAD |
|
|
CA1366740 rs757278586 |
102 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA344502645 rs1407010150 |
102 | R>P | No |
ClinGen gnomAD |
|
|
CA36603007 rs886928075 |
105 | C>R | No |
ClinGen Ensembl |
|
|
CA344502866 rs1338544888 |
106 | A>S | No |
ClinGen TOPMed |
|
|
CA1366759 rs138596532 |
109 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36603029 rs1008121368 |
112 | D>A | No |
ClinGen Ensembl |
|
|
rs779834380 CA1366762 |
115 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs544901755 CA1366763 |
115 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344503001 rs1355637462 |
116 | Y>H | No |
ClinGen gnomAD |
|
|
CA344503019 rs1243644149 |
117 | L>V | No |
ClinGen gnomAD |
|
|
CA344503033 rs1263124107 |
118 | T>A | No |
ClinGen gnomAD |
|
|
CA36603043 rs996824433 |
120 | E>D | No |
ClinGen TOPMed |
|
|
rs747164858 CA344503061 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747164858 CA1366766 |
120 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA344503103 rs1273810034 |
122 | G>D | No |
ClinGen gnomAD |
|
|
rs777159575 CA1366768 |
125 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344503143 rs1482035051 |
125 | A>T | No |
ClinGen gnomAD |
|
|
rs777159575 CA1366769 |
125 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344503200 rs1572725190 |
126 | V>M | No |
ClinGen Ensembl |
|
|
rs1558060991 CA344503241 |
128 | D>G | No |
ClinGen Ensembl |
|
|
CA1366783 rs758599692 |
131 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344503295 rs1373794346 |
132 | T>I | No |
ClinGen gnomAD |
|
|
rs141264336 CA1366784 |
133 | T>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA344503300 rs1440663894 |
133 | T>S | No |
ClinGen TOPMed |
|
|
CA1366786 rs770977759 |
134 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1366785 rs747230857 |
134 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344503316 rs1417065403 |
135 | E>* | No |
ClinGen TOPMed |
|
|
CA36603115 rs926826045 |
139 | M>V | No |
ClinGen gnomAD |
|
|
rs770491946 CA1366789 |
142 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1366790 rs775973822 |
143 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA344503418 rs1319252635 |
143 | F>V | No |
ClinGen gnomAD |
|
|
rs1311597516 CA344503455 |
146 | Q>E | No |
ClinGen gnomAD |
|
|
rs1254341406 CA344503560 |
151 | V>L | No |
ClinGen TOPMed |
|
|
CA1366810 rs146105658 |
153 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1366812 rs774632326 |
157 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775487245 CA1366813 |
159 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344503671 rs1199781244 |
160 | D>G | No |
ClinGen TOPMed |
|
|
CA1366814 rs771660113 |
160 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344503696 rs1473113856 |
162 | D>G | No |
ClinGen gnomAD |
|
|
rs1181992971 CA344503719 |
164 | I>T | No |
ClinGen gnomAD |
|
|
CA344503726 rs1572725775 |
165 | A>P | No |
ClinGen Ensembl |
|
|
CA1366816 rs772759643 |
168 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1572727371 CA344503914 |
171 | V>G | No |
ClinGen Ensembl |
|
|
CA344503936 rs1373908319 |
173 | V>L | No |
ClinGen TOPMed |
|
|
rs960699790 CA36603744 |
176 | P>L | No |
ClinGen Ensembl |
|
|
rs1226607777 CA344503993 |
178 | Y>H | No |
ClinGen gnomAD |
|
|
CA344504039 rs770374061 |
181 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1366838 rs759466201 |
185 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1366840 rs368390449 |
186 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762614324 CA1366841 |
187 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA344504111 rs1482075257 CA344504115 |
187 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344504616 rs1303409294 |
193 | R>K | No |
ClinGen TOPMed |
|
|
rs1558061951 CA344504646 |
194 | I>M | No |
ClinGen Ensembl |
|
|
rs756462878 CA344504643 |
194 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756462878 CA1366844 |
194 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344504663 rs1333386085 |
195 | E>V | No |
ClinGen TOPMed |
|
|
CA1366846 rs754007770 |
198 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA344504833 rs1446115288 |
201 | Y>* | No |
ClinGen gnomAD |
|
|
rs755485099 CA1366847 |
201 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs779242193 CA1366848 |
202 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1366849 rs142943270 |
202 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1211043109 CA344504849 |
203 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344505000 rs1347830773 |
209 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1296032607 CA344504989 |
209 | Y>N | No |
ClinGen gnomAD |
|
|
rs1300138985 CA344505024 |
210 | D>G | No |
ClinGen TOPMed |
|
|
rs758627461 CA1366850 |
210 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs908070137 CA36603782 |
211 | K>R | No |
ClinGen gnomAD |
|
|
rs1456928197 CA344505689 |
213 | L>F | No |
ClinGen gnomAD |
|
|
rs1456928197 CA344505691 |
213 | L>V | No |
ClinGen gnomAD |
|
|
rs1156973953 CA344505709 |
214 | S>F | No |
ClinGen gnomAD |
|
|
rs756883233 CA1366874 |
215 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1366876 rs745521924 |
219 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779669819 CA1366878 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1366879 rs749172793 |
222 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs538947855 CA1366880 |
224 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1366881 rs369332885 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 226 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1366882 rs761650506 |
226 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1366884 rs776928187 |
228 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs759818347 CA1366885 |
229 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs759818347 CA36604657 |
229 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA1366886 rs765219768 |
235 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36604665 rs977149025 |
237 | K>R | No |
ClinGen TOPMed |
|
|
rs1335199848 CA344506119 |
242 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 246 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145329872 CA1366889 |
247 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344506223 rs1403794766 |
248 | Q>* | No |
ClinGen TOPMed |
|
|
CA1366891 COSM1500722 rs371999507 COSM1500721 |
250 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 250 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552310576 CA1366892 |
251 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200517654 CA36604696 |
251 | T>I | No |
ClinGen Ensembl |
|
|
CA344506276 rs1156396766 |
252 | I>V | No |
ClinGen TOPMed |
|
|
CA344506294 rs1469193431 |
253 | Y>D | No |
ClinGen TOPMed |
|
|
CA1366897 rs754555677 |
256 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374742937 CA1366896 |
256 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1366898 rs140730046 |
257 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344506346 rs1558063174 |
257 | H>Y | No |
ClinGen Ensembl |
|
|
rs773199400 CA1366901 |
261 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 264 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770099007 CA1366903 |
265 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344506486 rs1229096159 |
266 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273880584 CA344506555 |
270 | G>D | No |
ClinGen gnomAD |
|
|
rs1266166733 CA344506574 |
271 | D>V | No |
ClinGen TOPMed |
|
|
rs764192402 CA1366906 |
275 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36604742 rs1036369293 |
276 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149323408 CA1366910 |
277 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1366908 rs866843433 |
277 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1366937 rs762272947 |
282 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344506925 rs1484716265 |
283 | Q>* | No |
ClinGen TOPMed |
|
|
CA1366938 rs190698633 |
286 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1170424890 CA344506979 |
287 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1222627961 CA344507011 |
289 | L>R | No |
ClinGen TOPMed |
|
|
rs1360914842 CA344507042 |
291 | E>D | No |
ClinGen TOPMed |
|
|
rs773613236 CA1366939 |
291 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761058940 CA1366940 |
292 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1366943 rs759321562 |
299 | V>M | No |
ClinGen ExAC |
|
|
CA344507161 rs1359350877 |
300 | W>* | No |
ClinGen TOPMed |
|
|
CA1366944 rs764836700 |
301 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1388475370 CA344507189 |
302 | S>N | No |
ClinGen gnomAD |
|
|
CA1366946 rs758392466 |
304 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1296821090 CA344507258 |
306 | R>S | No |
ClinGen TOPMed |
|
|
rs777720748 CA1366947 |
307 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558063678 CA344507294 |
309 | Q>H | No |
ClinGen Ensembl |
|
|
rs1288454769 CA344507305 |
310 | T>I | No |
ClinGen TOPMed |
|
|
rs757012478 CA1366949 |
313 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780905072 CA1366950 |
314 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193398341 CA344507348 CA344507350 |
315 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144563941 CA1366954 |
317 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144563941 CA1366953 |
317 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344507382 rs955937201 |
318 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs955937201 CA36604919 |
318 | Y>F | No |
ClinGen TOPMed |
|
|
rs1199623403 CA344507428 |
321 | W>* | No |
ClinGen TOPMed |
|
|
rs1413638777 CA344507426 |
321 | W>L | No |
ClinGen gnomAD |
|
|
CA344507420 rs1572731533 |
321 | W>R | No |
ClinGen Ensembl |
|
|
rs988844195 CA36604926 |
325 | N>S | No |
ClinGen Ensembl |
|
|
rs772075087 CA1366956 |
326 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309582719 CA344507608 |
330 | G>C | No |
ClinGen gnomAD |
|
|
CA36605452 rs888235501 |
330 | G>D | No |
ClinGen TOPMed |
|
|
rs1309582719 CA344507607 |
330 | G>R | No |
ClinGen gnomAD |
|
|
CA344507622 rs1202457002 |
332 | C>F | No |
ClinGen gnomAD |
|
|
CA344507655 rs1409039570 |
336 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542543450 CA344507704 |
343 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542543450 CA1366970 |
343 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140764704 CA1366969 |
343 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755925005 CA344507711 |
344 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344507705 rs1185853060 |
344 | Y>N | No |
ClinGen gnomAD |
|
|
CA344507745 rs1313557767 |
349 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344507746 rs1321600150 |
349 | A>V | No |
ClinGen gnomAD |
|
|
rs779065776 COSM1295796 COSM1295797 CA1366972 |
351 | R>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1583971 CA344507756 COSM903084 rs1483577508 |
351 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1204977075 CA344507759 |
352 | D>N | No |
ClinGen gnomAD |
|
|
CA344507782 rs1558064380 |
354 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 358 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230754698 CA344507813 |
359 | R>* | No |
ClinGen gnomAD |
|
|
rs900639002 CA36605467 |
359 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1311313688 CA344507828 |
361 | P>L | No |
ClinGen TOPMed |
|
|
CA344507834 rs1181890400 |
362 | G>A | No |
ClinGen gnomAD |
|
|
rs1558064819 CA344507877 |
367 | Q>E | No |
ClinGen Ensembl |
|
|
CA1366988 rs200235696 |
368 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 368 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366499814 CA344507912 |
372 | R>Q | No |
ClinGen gnomAD |
|
|
rs755840336 CA1366989 |
372 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1366991 rs752901360 |
374 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1366992 rs758615527 |
375 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1366994 rs761259786 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761259786 CA36605758 |
382 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284455137 CA344507986 |
384 | G>S | No |
ClinGen TOPMed |
|
|
rs1215526354 CA344507997 |
385 | N>S | No |
ClinGen TOPMed |
|
|
rs1464080898 CA344508014 |
388 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1226884383 CA344508029 |
390 | S>C | No |
ClinGen TOPMed |
|
|
rs776061783 CA1366999 |
391 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1367000 rs748936668 |
392 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1367001 rs768238400 |
394 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1367002 rs774072374 |
396 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs771560698 CA36605799 |
400 | A>D | No |
ClinGen Ensembl |
|
|
CA1367004 rs767018388 |
401 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1350532963 CA344508115 |
403 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs372658038 CA36605806 |
407 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1236180052 CA344508159 |
408 | D>V | No |
ClinGen gnomAD |
|
|
CA1367027 rs760576080 |
409 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1367028 rs770905601 |
411 | P>S | No |
ClinGen ExAC |
|
|
CA344508190 rs1339341066 |
413 | L>W | No |
ClinGen TOPMed |
|
|
rs183914038 CA1367029 |
415 | C>Y | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1289567140 CA344508212 |
416 | P>L | No |
ClinGen gnomAD |
|
|
CA344508221 rs1205695827 |
418 | H>N | No |
ClinGen gnomAD |
|
|
rs1248257163 CA344508234 |
419 | T>I | No |
ClinGen gnomAD |
|
|
CA36606120 rs921147631 |
420 | I>N | No |
ClinGen gnomAD |
|
|
CA344508239 rs921147631 |
420 | I>T | No |
ClinGen gnomAD |
|
|
CA36606121 rs146616886 |
422 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA344508645 rs1239250425 |
424 | T>N | No |
ClinGen gnomAD |
|
|
CA1367033 rs762186384 |
426 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs531487877 CA1367034 |
428 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 429 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36606205 rs903496970 |
435 | I>M | No |
ClinGen TOPMed |
|
|
CA344508798 rs1402553375 |
435 | I>V | No |
ClinGen gnomAD |
|
|
CA1367049 rs769465082 |
436 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767797359 CA1367052 |
446 | R>S | No |
ClinGen ExAC |
|
|
CA344508880 rs1435766225 |
447 | D>V | No |
ClinGen gnomAD |
|
|
CA36606236 rs113962276 |
449 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs113962276 CA344508893 |
449 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760767079 CA1367054 |
450 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760767079 CA1367055 |
450 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA344508981 rs1388237870 |
452 | N>S | No |
ClinGen gnomAD |
|
|
rs1233263364 CA344508999 |
453 | F>S | No |
ClinGen TOPMed |
|
|
CA1367069 rs769816758 |
455 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320732890 CA344509040 |
456 | N>T | No |
ClinGen TOPMed |
|
|
rs1370680907 CA344509050 |
457 | Q>K | No |
ClinGen gnomAD |
|
|
CA344509074 rs1223098864 |
458 | T>S | No |
ClinGen gnomAD |
|
|
rs770522438 CA1367070 |
461 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558066158 CA344509194 |
467 | F>L | No |
ClinGen Ensembl |
|
|
rs768572193 CA1367072 |
468 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776811345 CA1367076 |
471 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1367078 rs765728026 |
472 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1367079 rs151137785 |
472 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344509263 rs147014775 |
473 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1367080 COSM1176977 rs147014775 |
473 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751201910 CA1367082 |
474 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361942650 CA344509275 |
474 | N>T | No |
ClinGen gnomAD |
|
|
rs757006012 CA1367083 |
476 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780541078 CA1367084 |
477 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1301520570 CA344509313 |
477 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs745331127 CA1367085 |
477 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1367086 rs755606905 |
478 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1367087 rs779972554 COSM1338385 |
478 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA344509324 rs779972554 |
478 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225863865 CA344509378 |
482 | Y>C | No |
ClinGen TOPMed |
|
|
CA36606601 rs377519008 |
482 | Y>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344509408 rs1176084070 |
484 | V>A | No |
ClinGen gnomAD |
|
|
CA344509402 rs1480767310 |
484 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344509416 rs1247766351 |
485 | G>R | No |
ClinGen gnomAD |
|
|
rs1164119858 CA344509438 |
486 | S>R | No |
ClinGen gnomAD |
|
|
rs200699550 CA36606611 |
487 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1367093 rs776741129 |
487 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344509488 rs1170267853 |
491 | P>S | No |
ClinGen gnomAD |
|
|
CA344509527 rs1325338390 |
494 | P>T | No |
ClinGen TOPMed |
|
|
CA344509541 rs374972078 |
495 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA36606612 rs374972078 |
495 | L>V | No |
ClinGen gnomAD |
|
|
CA1367095 rs141454250 |
496 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1367096 rs538599971 COSM361437 |
496 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs538599971 CA344509555 |
496 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1367097 rs763511852 |
499 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1367098 rs764441910 |
500 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344509650 rs1395512411 |
503 | G>A | No |
ClinGen TOPMed |
|
|
CA1367099 rs751964694 |
503 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757581201 CA1367100 |
504 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1367103 rs755589744 |
505 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1367104 rs755589744 |
505 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755589744 CA344509670 |
505 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377350701 CA1367106 |
506 | D>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with O60825
5 regional properties for O60825
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Actinin-type actin-binding domain, conserved site | 213 - 237 | IPR001589 |
| domain | Calponin homology domain | 124 - 241 | IPR001715-1 |
| domain | Calponin homology domain | 269 - 372 | IPR001715-2 |
| domain | Calponin homology domain | 393 - 499 | IPR001715-3 |
| domain | Calponin homology domain | 514 - 622 | IPR001715-4 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.46 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 6-phosphofructo-2-kinase activity | Catalysis of the reaction: beta-D-fructose 6-phosphate + ATP = beta-D-fructose 2,6-bisphosphate + ADP + 2 H(+). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| fructose-2,6-bisphosphate 2-phosphatase activity | Catalysis of the reaction: D-fructose 2,6-bisphosphate + H2O = D-fructose-6-phosphate + phosphate. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| fructose 2,6-bisphosphate metabolic process | The chemical reactions and pathways involving fructose 2,6-bisphosphate. The D enantiomer is an important regulator of the glycolytic and gluconeogenic pathways. It inhibits fructose 1,6-bisphosphatase and activates phosphofructokinase. |
| fructose metabolic process | The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. |
| glucose catabolic process | The chemical reactions and pathways resulting in the breakdown of glucose, the aldohexose gluco-hexose. |
| glycolytic process | The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. |
| lactate metabolic process | The chemical reactions and pathways involving lactate, the anion of lactic acid. |
| positive regulation of glucokinase activity | Any process that activates or increases the frequency, rate or extent of glucokinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a glucose molecule. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| response to glucose | 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 glucose stimulus. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32604 | FBP26 | Fructose-2,6-bisphosphatase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P49872 | PFKFB1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Bos taurus (Bovine) | PR |
| P26285 | PFKFB2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Bos taurus (Bovine) | PR |
| P16118 | PFKFB1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Homo sapiens (Human) | PR |
| Q16877 | PFKFB4 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 | Homo sapiens (Human) | PR |
| Q16875 | PFKFB3 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 | Homo sapiens (Human) | PR |
| P70266 | Pfkfb1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Mus musculus (Mouse) | PR |
| Q6DTY7 | Pfkfb4 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 | Mus musculus (Mouse) | PR |
| P70265 | Pfkfb2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Mus musculus (Mouse) | PR |
| O35552 | Pfkfb3 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 | Rattus norvegicus (Rat) | PR |
| P07953 | Pfkfb1 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 | Rattus norvegicus (Rat) | PR |
| P25114 | Pfkfb4 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 | Rattus norvegicus (Rat) | PR |
| Q9JJH5 | Pfkfb2 | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGASSSEQN | NNSYETKTPN | LRMSEKKCSW | ASYMTNSPTL | IVMIGLPARG | KTYVSKKLTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YLNWIGVPTK | VFNLGVYRRE | AVKSYKSYDF | FRHDNEEAMK | IRKQCALVAL | EDVKAYLTEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NGQIAVFDAT | NTTRERRDMI | LNFAEQNSFK | VFFVESVCDD | PDVIAANILE | VKVSSPDYPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RNRENVMEDF | LKRIECYKVT | YRPLDPDNYD | KDLSFIKVIN | VGQRFLVNRV | QDYIQSKIVY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YLMNIHVQPR | TIYLCRHGES | EFNLLGKIGG | DSGLSVRGKQ | FAQALRKFLE | EQEITDLKVW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TSQLKRTIQT | AESLGVPYEQ | WKILNEIDAG | VCEEMTYAEI | EKRYPEEFAL | RDQEKYLYRY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PGGESYQDLV | QRLEPVIMEL | ERQGNVLVIS | HQAVMRCLLA | YFLDKGADEL | PYLRCPLHTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKLTPVAYGC | KVETIKLNVE | AVNTHRDKPT | NNFPKNQTPV | RMRRNSFTPL | SSSNTIRRPR |
| 490 | 500 | ||||
| NYSVGSRPLK | PLSPLRAQDM | QEGAD |