AiPD: Autoinhibited Protein Database

Q16875

Gene name	PFKFB3
Protein name	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3
Names	6PF-2-K/Fru-2,6-P2ase 3, PFK/FBPase 3, 6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme, Renal carcinoma antigen NY-REN-56, iPFK-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5209
EC number	2.7.1.105: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

238-308 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

238-308 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

27 structures for Q16875

Entry ID	Method	Resolution	Chain	Position	Source
2AXN	X-ray	210 A	A	1-520	PDB
2DWO	X-ray	225 A	A	1-520	PDB
2DWP	X-ray	270 A	A	1-520	PDB
2I1V	X-ray	250 A	B	1-520	PDB
3QPU	X-ray	230 A	A	1-520	PDB
3QPV	X-ray	250 A	A	1-520	PDB
3QPW	X-ray	225 A	A	1-520	PDB
4D4J	X-ray	300 A	A	1-449	PDB
4D4K	X-ray	324 A	A	1-449	PDB
4D4L	X-ray	316 A	A	1-449	PDB
4D4M	X-ray	232 A	A	1-449	PDB
4MA4	X-ray	223 A	A	1-520	PDB
5AJV	X-ray	301 A	B	1-520	PDB
5AJW	X-ray	250 A	A	1-520	PDB
5AJX	X-ray	258 A	A	1-520	PDB
5AJY	X-ray	237 A	A	1-520	PDB
5AJZ	X-ray	235 A	A	1-520	PDB
5AK0	X-ray	203 A	A	1-520	PDB
6ETJ	X-ray	251 A	A	1-520	PDB
6HVH	X-ray	236 A	A	1-520	PDB
6HVI	X-ray	196 A	A	1-520	PDB
6HVJ	X-ray	228 A	A	1-520	PDB
6IBX	X-ray	211 A	A	4-447	PDB
6IBY	X-ray	251 A	A	4-447	PDB
6IBZ	X-ray	244 A	A	4-447	PDB
6IC0	X-ray	260 A	A	4-446	PDB
AF-Q16875-F1	Predicted				AlphaFoldDB

395 variants for Q16875

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1160846396 CA375945339	2	P>L		No	ClinGen gnomAD
rs1190346617 CA375945350	4	E>G		No	ClinGen gnomAD
rs770373341 CA5397988	5	L>V		No	ClinGen ExAC gnomAD
rs1159680882 CA375945364	6	T>M		No	ClinGen gnomAD
rs1464515542 CA375945383	9	R>Q		No	ClinGen gnomAD
CA375945440 rs1355997504	17	V>A		No	ClinGen TOPMed
rs768690057 CA5397991	17	V>L		No	ClinGen ExAC gnomAD
CA5397992 rs774623394	18	D>N		No	ClinGen ExAC TOPMed gnomAD
rs761887123 CA5397993	19	H>Q		No	ClinGen ExAC gnomAD
rs1308579316 CA375945467	21	P>L		No	ClinGen gnomAD
rs1319219246 CA375945471	22	S>*		No	ClinGen gnomAD
CA375945472 rs1319219246	22	S>L		No	ClinGen gnomAD
rs760486257 CA5397996	23	L>F		No	ClinGen ExAC gnomAD
CA5397998 rs200996135	25	R>K		No	ClinGen ExAC TOPMed gnomAD
CA5397997 rs200996135	25	R>T		No	ClinGen ExAC TOPMed gnomAD
rs758028195 CA5398025	26	S>F		No	ClinGen ExAC gnomAD
rs751708658 CA5397999	26	S>T		No	ClinGen ExAC gnomAD
rs763805870 CA5398026	28	G>E		No	ClinGen ExAC gnomAD
CA375931473 rs1299006022	34	S>F		No	ClinGen TOPMed
CA375931498 rs1411150325	35	P>H		No	ClinGen gnomAD
CA375931502 rs1411150325	35	P>R		No	ClinGen gnomAD
rs756538480 CA5398028	35	P>S		No	ClinGen ExAC gnomAD
rs1250199808 CA375931545	36	T>A		No	ClinGen gnomAD
CA5398031 rs200349885	37	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA202315314 rs963445036	39	V>A		No	ClinGen TOPMed gnomAD
rs142603218 CA5398033	39	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375931783 rs1196964959	42	G>A		No	ClinGen gnomAD
CA5398035 rs759203021	45	A>T	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs919446085 CA202315333	46	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs747176453 CA5398036	46	R>W		No	ClinGen ExAC gnomAD
CA375931975 rs1481862501	51	I>V		No	ClinGen TOPMed
CA5398040 rs567196228	59	L>F		No	ClinGen 1000Genomes ExAC
TCGA novel	60	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283110624 CA375932233	61	W>*		No	ClinGen TOPMed
rs775535420 CA5398042	63	G>D		No	ClinGen ExAC gnomAD
rs375018306 CA5398043	64	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375932295 rs1482715343	65	P>H		No	ClinGen gnomAD
CA5398074 rs781263393	68	V>A		No	ClinGen ExAC gnomAD
rs181651478 CA5398076	71	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA667224405 rs1222442853	74	Y>*		No	ClinGen TOPMed
rs1245462258 CA375933116	75	R>C		No	ClinGen gnomAD
rs1380747249 CA375933125	75	R>H		No	ClinGen TOPMed
CA5398079 rs749129357	76	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375933252 rs1457775812	81	Q>E		No	ClinGen TOPMed
rs547569491 CA375933262	81	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547569491 CA5398080	81	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774481512 CA5398081	82	Y>C		No	ClinGen ExAC gnomAD
CA5398082 rs376208847	83	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588498491 CA375933495	86	N>K		No	ClinGen Ensembl
rs1414251863 CA375933483	86	N>S		No	ClinGen TOPMed
rs1588498501 CA375933545	88	F>S		No	ClinGen Ensembl
rs771681077 CA5398083	89	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1321726913 CA375933562	89	R>H		No	ClinGen gnomAD
rs951762776 CA202316852	90	P>S		No	ClinGen TOPMed
rs760318737 CA5398085	91	D>N		No	ClinGen ExAC gnomAD
CA5398087 rs753009870	92	N>H		No	ClinGen ExAC gnomAD
CA375933656 rs1340800282	93	E>K		No	ClinGen gnomAD
rs149555675 CA5398088	94	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs764552151 CA5398089	96	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1245863604 CA375933759	98	V>L		No	ClinGen TOPMed
CA202316872 rs36005730	99	R>Q		No	ClinGen gnomAD
rs201889586 CA5398090	99	R>W	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs757268684 CA5398092	100	K>R		No	ClinGen ExAC gnomAD
rs1279908299 CA375934702	101	Q>R		No	ClinGen TOPMed gnomAD
CA5398133 rs773635607	104	L>S		No	ClinGen ExAC gnomAD
CA5398134 COSM326126 rs760834564 COSM326125	105	A>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA375934791 rs1182445688	106	A>G		No	ClinGen TOPMed gnomAD
rs766625430 CA5398135	106	A>S		No	ClinGen ExAC gnomAD
TCGA novel	106	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975220693 CA202317824	107	L>S		No	ClinGen TOPMed
rs753980509 CA202317840	111	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5398136 rs753980509	111	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs765641319 CA5398137	111	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765399775 CA5398139	115	A>E		No	ClinGen ExAC TOPMed gnomAD
rs765399775 CA5398138	115	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5398142 rs763367903 COSM1297341 COSM1297342	117	E>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763367903 CA5398141	117	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1205367584 CA375935090	121	I>T		No	ClinGen TOPMed
CA375935111 rs1391258081	122	A>V		No	ClinGen gnomAD
rs1184354821 CA375935451	127	T>P		No	ClinGen gnomAD
rs1428791279 CA375935482	129	T>A		No	ClinGen gnomAD
rs768370594 CA5398166	129	T>I		No	ClinGen ExAC gnomAD
CA375935516 rs1244780239	131	R>G		No	ClinGen Ensembl
rs1415036116 CA375935569	133	R>W		No	ClinGen gnomAD
CA375935602 rs1460274678	135	H>Y		No	ClinGen gnomAD
rs1395609918 CA375935630	136	M>I		No	ClinGen gnomAD
CA5398167 rs777933166	136	M>V		No	ClinGen ExAC TOPMed gnomAD
CA375935683 rs1439020587	139	H>P		No	ClinGen gnomAD
rs747409261 CA5398168	142	K>R		No	ClinGen ExAC gnomAD
TCGA novel	142	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	143	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361520456 CA375935799	145	D>N		No	ClinGen gnomAD
rs1564629601 CA375935840	147	K>Q		No	ClinGen Ensembl
rs144243977 CA5398203	148	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773437490 CA202319036	152	E>K		No	ClinGen TOPMed
rs764975677 CA5398206	153	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA202319043 rs576701454	153	S>P		No	ClinGen Ensembl
CA5398209 rs758712431	154	V>A		No	ClinGen ExAC TOPMed gnomAD
rs758136512 CA5398208	154	V>M		No	ClinGen ExAC TOPMed gnomAD
CA202319103 rs918586595	156	D>G		No	ClinGen Ensembl
CA5398211 rs756527360	156	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA375936312 rs1588503852	157	D>A		No	ClinGen Ensembl
CA375936316 rs1301062980	157	D>E		No	ClinGen TOPMed gnomAD
rs749299504 CA5398213	157	D>N		No	ClinGen ExAC gnomAD
CA375936351 rs1205259758	158	P>L		No	ClinGen TOPMed
rs1443068012 CA375936364	159	T>A		No	ClinGen gnomAD
rs942240402 CA202319105	159	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1588503900 CA375936378	160	V>I		No	ClinGen Ensembl
CA375936415 rs1211172265	161	V>E		No	ClinGen gnomAD
rs1435603598 CA375936455	164	N>S		No	ClinGen gnomAD
rs776918283 CA202319110	165	I>V		No	ClinGen Ensembl
rs774547245 CA5398215	166	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1039167609 CA202319126	166	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1417038743 CA375937481	167	E>D		No	ClinGen gnomAD
rs1027570401 CA202321240	168	V>A		No	ClinGen Ensembl
CA375937533 rs1382528655	170	I>M		No	ClinGen TOPMed gnomAD
CA5398258 rs373530404	170	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5398259 rs769828653	171	S>Y		No	ClinGen ExAC gnomAD
rs1191321541 CA375937619	175	Y>*		No	ClinGen TOPMed
rs1564632077 CA375937658	177	D>G		No	ClinGen Ensembl
CA5398260 rs775606147	177	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375937686 rs1446589943	178	C>*		No	ClinGen TOPMed
CA5398261 rs762545765	179	N>I		No	ClinGen ExAC gnomAD
CA375937701 rs762545765	179	N>T		No	ClinGen ExAC gnomAD
rs768274515 CA5398262	180	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1246182208 CA375937735	181	A>G		No	ClinGen gnomAD
rs1246182208 CA375937731	181	A>V		No	ClinGen gnomAD
CA375937758 rs1378685000	183	A>T		No	ClinGen gnomAD
rs1204726431 CA375937786	184	M>T		No	ClinGen gnomAD
rs761465902 CA5398264	184	M>V		No	ClinGen ExAC gnomAD
rs767107653 CA5398265	185	D>G		No	ClinGen ExAC gnomAD
rs1165603025 CA375937867	188	M>V		No	ClinGen gnomAD
CA5398267 rs759944528	191	I>N		No	ClinGen ExAC gnomAD
CA375937922 rs1588509554	192	S>R		No	ClinGen Ensembl
rs1256980239 CA375937957	193	C>Y		No	ClinGen gnomAD
CA5398269 rs753259168	195	E>D		No	ClinGen ExAC gnomAD
rs758918175 CA5398270	196	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5398271 rs764167016	200	P>T		No	ClinGen ExAC gnomAD
rs757448210 CA5398273	202	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1432538243 CA375938115	203	P>L		No	ClinGen gnomAD
CA5398276 rs199606482	204	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765391948 CA5398275	206	C>*		No	ClinGen ExAC
CA375938146 rs1388270844	206	C>R		No	ClinGen gnomAD
CA5398279 rs780129830	206	C>W		No	ClinGen ExAC TOPMed gnomAD
CA5398303 rs771551601	209	D>N		No	ClinGen ExAC gnomAD
TCGA novel	211	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5398304 COSM1702019 rs772721261 COSM1702018	211	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5398308 rs763272837	214	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA375938822 rs1378693198	215	V>M		No	ClinGen TOPMed
rs369033520 CA5398309	216	I>T		No	ClinGen ESP ExAC gnomAD
CA202322489 rs1023103176	217	D>N		No	ClinGen gnomAD
CA5398311 rs373816623	218	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5398313 rs140784797 COSM1348507 COSM1348506	220	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5398312 rs767650284	220	R>W		No	ClinGen ExAC TOPMed gnomAD
CA375938945 rs1382976352	222	F>L		No	ClinGen gnomAD
CA5398314 rs577158958	224	V>L		No	ClinGen 1000Genomes ExAC
CA5398315 rs766735374	226	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs942388936 CA202322497	226	R>W		No	ClinGen TOPMed gnomAD
CA375939017 rs1588512508	227	V>L		No	ClinGen Ensembl
rs1015889528 CA202322502	230	H>N		No	ClinGen gnomAD
CA375939055 rs1419771924	231	I>M		No	ClinGen TOPMed
rs1380389716 CA375939064	233	S>G		No	ClinGen gnomAD
TCGA novel	233	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5398316 rs753664642	234	R>C		No	ClinGen ExAC gnomAD
CA5398317 rs765237719	234	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752636577 CA5398319	235	I>V		No	ClinGen ExAC gnomAD
rs777223374 CA5398321	236	V>M		No	ClinGen ExAC TOPMed gnomAD
rs746543536 CA5398322	237	Y>C		No	ClinGen ExAC
CA5398324 rs369124719	244	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5398325 rs749656403	246	P>A		No	ClinGen ExAC gnomAD
CA5398326 rs373844823	246	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230816665 CA375939157	247	R>C		No	ClinGen TOPMed
CA5398328 rs762163058	247	R>H		No	ClinGen ExAC gnomAD
rs1287358325 CA375939166	248	T>I		No	ClinGen TOPMed gnomAD
rs1360183559 CA375939168	249	I>V		No	ClinGen gnomAD
CA375939197 rs1280254175	253	R>Q		No	ClinGen gnomAD
CA375939196 rs1400657020	253	R>W		No	ClinGen gnomAD
rs773379850 CA5398330	255	G>S		No	ClinGen ExAC TOPMed gnomAD
CA375939213 rs1313083328 COSM427742 COSM427741	256	E>K	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA202322619 rs986382178	257	N>D		No	ClinGen Ensembl
CA5398332 rs145448801	257	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5398334 rs759364786	258	E>D		No	ClinGen ExAC gnomAD
rs574908611 CA5398333	258	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752567472 CA5398336	259	H>Q		No	ClinGen ExAC gnomAD
rs764872013 CA5398335	259	H>R		No	ClinGen ExAC gnomAD
CA375939242 rs1588512904	260	N>T		No	ClinGen Ensembl
CA5398337 rs758281350	261	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1474472763 CA375939253	262	Q>*		No	ClinGen TOPMed gnomAD
CA375939263 rs1181820149	263	G>D		No	ClinGen gnomAD
rs140258391 CA5398338	264	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377041246 CA5398339	264	R>H	Variant assessed as Somatic; 4.804e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA202322661 rs377041246	264	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488207456 CA375939271	265	I>F		No	ClinGen TOPMed
rs34832528 CA5398341	266	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	267	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233686809 CA375939291	268	D>V		No	ClinGen TOPMed
rs12569742 CA202322689	270	G>S		No	ClinGen Ensembl
rs779109196 CA5398344	271	L>P		No	ClinGen ExAC gnomAD
rs748570830 CA5398345	273	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200580141 CA5398348	274	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200723320 CA5398346	274	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs771195007 CA5398349	275	G>A		No	ClinGen ExAC gnomAD
CA375939330 rs771195007	275	G>D		No	ClinGen ExAC gnomAD
CA5398350 rs776787195	276	K>N		No	ClinGen ExAC gnomAD
CA375939366 rs1251344429	279	A>T		No	ClinGen TOPMed gnomAD
rs1477863183 CA375939371	279	A>V		No	ClinGen gnomAD
CA5398375 rs145547756	280	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA375939378 rs1427354954	280	S>R		No	ClinGen gnomAD
CA202323434 rs954719339	283	S>T		No	ClinGen Ensembl
CA5398377 rs755690043	286	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375939525 rs1588514939	290	N>T		No	ClinGen Ensembl
CA375939572 rs1588514961	293	D>A		No	ClinGen Ensembl
rs372640050 CA5398381	295	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs372640050 CA375939605	295	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5398383 rs748864570	295	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5398382 rs748864570	295	R>L		No	ClinGen ExAC TOPMed gnomAD
rs372640050 CA375939602	295	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745927157 CA375939619	296	V>L		No	ClinGen ExAC gnomAD
rs745927157 CA5398385	296	V>M		No	ClinGen ExAC gnomAD
CA375939660 rs1588515052	298	T>P		No	ClinGen Ensembl
CA5398387 rs769974312	303	S>C		No	ClinGen ExAC gnomAD
CA375939741 rs769974312	303	S>G		No	ClinGen ExAC gnomAD
rs1047793225 CA202323523	303	S>R		No	ClinGen TOPMed
CA5398388 rs770681879	307	T>M		No	ClinGen ExAC TOPMed gnomAD
rs774085700 CA5398391	309	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5398392 rs569471270	310	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1564634525 CA375939880	311	L>P		No	ClinGen Ensembl
rs774521447 CA202323561	312	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5398395 rs774521447	312	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5398394 rs140957456	312	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA375939914 rs955122406	314	P>A		No	ClinGen TOPMed
CA202323572 rs955122406	314	P>S		No	ClinGen TOPMed
TCGA novel	316	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375939949 rs1325145504	316	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1343124559 CA375939981	318	W>R		No	ClinGen gnomAD
rs753406137 CA5398397	320	A>T		No	ClinGen ExAC gnomAD
rs759213296 CA5398398	320	A>V		No	ClinGen ExAC TOPMed gnomAD
CA375940058 rs1588515332	322	N>S		No	ClinGen Ensembl
rs751938866 CA5398400	324	I>L		No	ClinGen ExAC gnomAD
CA5398402 rs199705255	325	D>N		No	ClinGen ExAC TOPMed gnomAD
rs534357183	326	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5398404 rs35117690	326	A>V		No	ClinGen ExAC gnomAD
rs371075114 CA5398434	328	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5398435 rs762624356	332	L>R		No	ClinGen ExAC
CA375940247 rs1467056797	333	T>I		No	ClinGen TOPMed
rs763673900 CA5398437	334	Y>D		No	ClinGen ExAC gnomAD
CA5398439 rs760987653	335	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1377702780 CA375940297	340	T>I		No	ClinGen gnomAD
CA5398441 rs773253990	341	Y>C		No	ClinGen ExAC gnomAD
CA5398440 rs766867142	341	Y>N		No	ClinGen ExAC gnomAD
CA375940309 rs1465406185	342	P>L		No	ClinGen gnomAD
CA375940304 rs1480156144	342	P>S		No	ClinGen TOPMed
rs765237852 CA5398444	345	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5398443 rs765237852	345	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5398442 rs368231126	345	Y>N		No	ClinGen ESP ExAC TOPMed
CA5398445 rs141885543	346	A>V		No	ClinGen ExAC TOPMed gnomAD
rs757173532 CA5398448	348	R>Q		No	ClinGen ExAC gnomAD
CA5398447 rs746812707	348	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1484233270 CA375940385	349	E>K		No	ClinGen TOPMed
rs562103199 CA375940430	351	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375940458 rs1256041781	353	Y>C		No	ClinGen gnomAD
rs1564634923 CA375940453	353	Y>H		No	ClinGen Ensembl
CA5398451 rs769882100	354	Y>C		No	ClinGen ExAC gnomAD
rs745733849 CA5398450	354	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1329279904 CA375940507	356	R>C		No	ClinGen TOPMed
rs775015647 CA5398452	356	R>H		No	ClinGen ExAC gnomAD
rs1289649973 CA375940538	358	P>L		No	ClinGen TOPMed
rs1267379251 CA375940535	358	P>S		No	ClinGen gnomAD
CA375940560 rs1422105617	360	G>A		No	ClinGen gnomAD
CA5398454 rs768325811	360	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1588519276 CA375941382	362	S>A		No	ClinGen Ensembl
CA375941399 rs1244328601	364	Q>R		No	ClinGen gnomAD
TCGA novel	365	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5398484 rs750211278	369	R>C		No	ClinGen ExAC gnomAD
rs1343866463 CA375941444	371	E>*		No	ClinGen TOPMed
rs753660268 CA5398487	372	P>A		No	ClinGen ExAC gnomAD
rs1442675413 CA375941453	372	P>Q		No	ClinGen TOPMed
rs1303149103 CA375941475	375	M>I		No	ClinGen gnomAD
CA375941473 rs1447222225	375	M>T		No	ClinGen gnomAD
rs1371465280 CA375941482	376	E>G		No	ClinGen gnomAD
CA5398490 rs747683414	379	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759672045 CA202328413	379	R>W		No	ClinGen Ensembl
rs771692459 CA5398491	381	E>G		No	ClinGen ExAC TOPMed gnomAD
rs771692459 CA375941513	381	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1308052299 CA375941518	382	N>D		No	ClinGen gnomAD
rs1588519540 CA375941541	385	V>G		No	ClinGen Ensembl
CA375941566 rs1275903542	388	H>P		No	ClinGen gnomAD
rs746214599 CA375941602	389	Q>H		No	ClinGen ExAC gnomAD
rs1310900549 CA375941592	389	Q>R		No	ClinGen gnomAD
CA5398495 COSM3665793 COSM3665794 rs775924004	391	V>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs958723789 CA202328446	393	R>C		No	ClinGen TOPMed gnomAD
rs769227468 CA5398497	393	R>L		No	ClinGen ExAC gnomAD
rs774548797 CA5398498	396	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774548797 CA375941707	396	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1423167555 CA375941796	400	L>P		No	ClinGen gnomAD
CA5398499 rs202182009	401	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5398500 rs201735991	403	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1564636531 CA375941871	404	A>V		No	ClinGen Ensembl
CA5398532 rs756837478	408	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5398535 rs755429809	413	P>H		No	ClinGen ExAC gnomAD
CA375942118 rs1476258532	413	P>S		No	ClinGen TOPMed gnomAD
CA375942114 rs1476258532	413	P>T		No	ClinGen TOPMed gnomAD
CA5398536 rs779435896	416	T>A		No	ClinGen ExAC gnomAD
CA5398538 rs143044080	417	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375942209 rs1298087063	419	K>R		No	ClinGen gnomAD
CA5398540 rs747166742	421	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769508911 CA5398544	424	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1247021600 CA375942296	425	Y>S		No	ClinGen gnomAD
rs761670678 CA5398568	428	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5398569 rs766986473	428	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1446338747 CA375943000	432	I>N		No	ClinGen gnomAD
rs760356335 CA5398571	434	L>V		No	ClinGen ExAC gnomAD
rs140195872 CA202329822	435	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231206567 CA375943061	436	V>M		No	ClinGen gnomAD
rs1274153925 CA375943098	438	S>C		No	ClinGen gnomAD
CA202329841 rs145516111	439	V>I		No	ClinGen ESP TOPMed gnomAD
rs778133808 CA5398575	440	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1588523178 CA375943133	442	H>P		No	ClinGen Ensembl
CA5398579 rs781282147	443	R>Q		No	ClinGen ExAC gnomAD
rs144329353 CA5398578	443	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148777860 CA202329860	444	E>D		No	ClinGen ESP TOPMed gnomAD
CA5398652 rs769125713	448	D>G		No	ClinGen ExAC gnomAD
rs1209777069 CA375943246	448	D>Y		No	ClinGen Ensembl
rs1284920667 CA375943256	449	A>V		No	ClinGen gnomAD
TCGA novel	450	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs974021182 CA202331751	450	K>R		No	ClinGen TOPMed gnomAD
rs779620448 CA5398653 COSM314097 COSM314096	451	K>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs921149266 CA375943950	452	G>E		No	ClinGen TOPMed gnomAD
CA202331755 rs921149266	452	G>V		No	ClinGen TOPMed gnomAD
CA375943956 rs1444869081	453	P>L		No	ClinGen gnomAD
CA5398654 rs143645269	455	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375943968 rs143645269	455	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773544557 CA5398656	456	L>F		No	ClinGen ExAC gnomAD
rs761070509 CA5398657	457	M>T		No	ClinGen ExAC gnomAD
CA375943995 rs1405554560	459	R>L		No	ClinGen gnomAD
CA375943990 rs1335153218	459	R>S		No	ClinGen gnomAD
rs760104468 CA5398660	462	V>I		No	ClinGen ExAC gnomAD
CA5398661 rs765168696	463	T>A		No	ClinGen ExAC gnomAD
CA375944017 rs765168696	463	T>P		No	ClinGen ExAC gnomAD
TCGA novel	466	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5398665 COSM919354 COSM919353 rs368490604	469	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA375944065 rs1354685474	470	P>L		No	ClinGen gnomAD
CA375944071 rs1205206989	471	T>I		No	ClinGen gnomAD
TCGA novel	473	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781147637 CA5398667	474	P>L		No	ClinGen ExAC gnomAD
CA5398668 rs750259449	475	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1181993524 CA375944095	475	R>H		No	ClinGen TOPMed gnomAD
CA5398670 rs779383308	476	I>V		No	ClinGen ExAC gnomAD
CA375944105 rs1205902145	477	N>D		No	ClinGen TOPMed
CA5398671 rs748879307	478	S>N		No	ClinGen ExAC gnomAD
CA375944130 rs1429065832	480	E>A		No	ClinGen gnomAD
CA375944140 CA5398673 rs778605704	481	E>D		No	ClinGen ExAC TOPMed gnomAD
rs372262915 CA5398672	481	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375524545 CA5398675	482	H>P		No	ClinGen ESP ExAC gnomAD
rs375524545 CA5398674	482	H>R		No	ClinGen ESP ExAC gnomAD
CA375944151 rs1390885846	483	V>A		No	ClinGen gnomAD
rs746325286 CA5398677	484	A>V		No	ClinGen ExAC gnomAD
CA5398678 rs770377241	485	S>C		No	ClinGen ExAC gnomAD
CA5398680 rs763189277	486	T>A		No	ClinGen ExAC TOPMed gnomAD
CA375944187 rs763189277	486	T>P		No	ClinGen ExAC TOPMed gnomAD
rs763189277 CA375944191	486	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5398682 rs143989781	487	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs750254792 CA5398685	489	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1348513 CA5398686 COSM1348512 rs750254792	489	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753284638 CA5398688	492	S>G		No	ClinGen ExAC gnomAD
CA5398689 CA375944285 rs754542260	492	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5398690 rs778409661	493	C>*		No	ClinGen ExAC gnomAD
CA375944291 rs1307212811	493	C>R		No	ClinGen TOPMed
rs1588530927 CA375944319	495	P>L		No	ClinGen Ensembl
rs61731874 CA5398692	495	P>S		No	ClinGen ExAC TOPMed gnomAD
rs61731874 CA5398693	495	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5398694 rs746279454	496	P>L		No	ClinGen ExAC TOPMed gnomAD
rs949994491 CA202331947	497	E>D		No	ClinGen Ensembl
rs776120009 CA5398696	498	V>G		No	ClinGen ExAC gnomAD
CA5398698 rs768786913	499	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5398699 rs768786913	499	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5398701 rs150176706	500	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA375944384 rs150176706	500	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA375944432 rs1356617370	503	P>R		No	ClinGen TOPMed gnomAD
rs1038333203 CA202332011	504	G>R		No	ClinGen Ensembl
rs35413228 CA375945246	509	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA202339849 rs1016952054	509	G>S		No	ClinGen TOPMed gnomAD
CA5398866 rs35413228	509	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5398868 rs368989673	511	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757123518 CA5398867	511	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1190113251 CA375945256	512	S>R		No	ClinGen TOPMed
CA375945273 rs1302257709	514	A>P		No	ClinGen gnomAD
CA375945272 rs1302257709	514	A>T		No	ClinGen gnomAD
TCGA novel	515	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5398870 rs755584243	515	D>V		No	ClinGen ExAC gnomAD
CA375945296 rs1209361965	517	S>F		No	ClinGen TOPMed
CA5398873 rs754656515	518	R>G		No	ClinGen ExAC gnomAD
rs1299208490 CA375945301	518	R>S		No	ClinGen TOPMed gnomAD
rs778078199 CA5398874	519	K>*		No	ClinGen ExAC gnomAD
rs747448805 CA5398875	520	H>R		No	ClinGen ExAC gnomAD

No associated diseases with Q16875

24 regional properties for Q16875

Type	Name	Position	InterPro Accession
domain	F-box domain	1 - 50	IPR001810
repeat	Parallel beta-helix repeat	198 - 217	IPR006626-1
repeat	Parallel beta-helix repeat	238 - 260	IPR006626-2
repeat	Parallel beta-helix repeat	423 - 444	IPR006626-3
repeat	Parallel beta-helix repeat	467 - 489	IPR006626-4
repeat	Parallel beta-helix repeat	490 - 512	IPR006626-5
repeat	Parallel beta-helix repeat	513 - 535	IPR006626-6
repeat	Parallel beta-helix repeat	536 - 558	IPR006626-7
repeat	Parallel beta-helix repeat	559 - 581	IPR006626-8
repeat	Parallel beta-helix repeat	582 - 604	IPR006626-9
repeat	Parallel beta-helix repeat	605 - 627	IPR006626-10
repeat	Parallel beta-helix repeat	628 - 650	IPR006626-11
repeat	Parallel beta-helix repeat	651 - 673	IPR006626-12
repeat	Parallel beta-helix repeat	713 - 735	IPR006626-13
repeat	Parallel beta-helix repeat	736 - 758	IPR006626-14
repeat	Parallel beta-helix repeat	760 - 782	IPR006626-15
repeat	Parallel beta-helix repeat	783 - 805	IPR006626-16
repeat	Parallel beta-helix repeat	828 - 850	IPR006626-17
domain	Carbohydrate-binding/sugar hydrolysis domain	337 - 511	IPR006633-1
domain	Carbohydrate-binding/sugar hydrolysis domain	536 - 672	IPR006633-2
domain	Carbohydrate-binding/sugar hydrolysis domain	681 - 804	IPR006633-3
domain	Periplasmic copper-binding protein NosD, beta helix domain	719 - 868	IPR007742
repeat	Parallel beta-helix repeat-2	530 - 569	IPR022441
domain	Right handed beta helix domain	423 - 568	IPR039448

Functions

		Description
EC Number	2.7.1.105	Phosphotransferases with an alcohol group as acceptor
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.

3 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.

3 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
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.

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
O60825	PFKFB2	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2	Homo sapiens (Human)	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
P70265	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2	Mus musculus (Mouse)	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
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
O35552	Pfkfb3	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPLELTQSRV	QKIWVPVDHR	PSLPRSCGPK	LTNSPTVIVM	VGLPARGKTY	ISKKLTRYLN
70	80	90	100	110	120
WIGVPTKVFN	VGEYRREAVK	QYSSYNFFRP	DNEEAMKVRK	QCALAALRDV	KSYLAKEGGQ
130	140	150	160	170	180
IAVFDATNTT	RERRHMILHF	AKENDFKAFF	IESVCDDPTV	VASNIMEVKI	SSPDYKDCNS
190	200	210	220	230	240
AEAMDDFMKR	ISCYEASYQP	LDPDKCDRDL	SLIKVIDVGR	RFLVNRVQDH	IQSRIVYYLM
250	260	270	280	290	300
NIHVQPRTIY	LCRHGENEHN	LQGRIGGDSG	LSSRGKKFAS	ALSKFVEEQN	LKDLRVWTSQ
310	320	330	340	350	360
LKSTIQTAEA	LRLPYEQWKA	LNEIDAGVCE	ELTYEEIRDT	YPEEYALREQ	DKYYYRYPTG
370	380	390	400	410	420
ESYQDLVQRL	EPVIMELERQ	ENVLVICHQA	VLRCLLAYFL	DKSAEEMPYL	KCPLHTVLKL
430	440	450	460	470	480
TPVAYGCRVE	SIYLNVESVC	THRERSEDAK	KGPNPLMRRN	SVTPLASPEP	TKKPRINSFE
490	500	510
EHVASTSAAL	PSCLPPEVPT	QLPGQNMKGS	RSSADSSRKH