AiPD: Autoinhibited Protein Database

Q16877

Gene name	PFKFB4
Protein name	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4
Names	6PF-2-K/Fru-2,6-P2ase 4, PFK/FBPase 4, 6PF-2-K/Fru-2,6-P2ase testis-type isozyme
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5210
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

416-469 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

416-469 (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

1 structures for Q16877

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q16877-F1	Predicted				AlphaFoldDB

362 variants for Q16877

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA352625474 rs1313619795	2	A>T		No	ClinGen gnomAD
CA352625469 rs1378399903	2	A>V		No	ClinGen TOPMed
CA352625458 rs1322097053	4	P>L		No	ClinGen TOPMed
rs149426177 CA2377682	4	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767505537 CA2377681	5	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352625455 rs767505537	5	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766264488 CA2377678	10	N>S		No	ClinGen ExAC gnomAD
CA2377677 rs763319558	14	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2377676 COSM384949 rs773456377	17	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs1036161069 CA73963571	17	M>V		No	ClinGen TOPMed
rs1426511122 CA352625353	20	S>G		No	ClinGen gnomAD
CA352625321 rs1249451657	25	A>T		No	ClinGen gnomAD
CA352625306 rs1343731746	27	H>R		No	ClinGen gnomAD
rs1245822837 CA352625297	28	A>V		No	ClinGen gnomAD
rs1416497958 CA352625286	30	Q>*		No	ClinGen TOPMed
TCGA novel	34	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1045843 CA352623899 rs1391291661	35	M>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA352623898 rs1391291661	35	M>V		No	ClinGen gnomAD
rs374222865 CA2377643	37	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352623857 rs1312585178	37	N>S		No	ClinGen TOPMed
CA352623806 rs1242859288	39	P>L		No	ClinGen gnomAD
rs780164866 CA2377642	39	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2377641 rs758214576	41	L>V		No	ClinGen ExAC gnomAD
CA2377639 rs150533667	44	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377640 rs146129105	44	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377638 rs757553047	45	V>M		No	ClinGen ExAC gnomAD
CA352623687 rs1483448377	46	G>C		No	ClinGen gnomAD
rs1276887975 CA352623683	46	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA73960038 rs372258983	49	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2377637 rs372258983	49	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764198402 CA2377636	50	R>S		No	ClinGen ExAC gnomAD
rs760774056 CA352623584	51	G>A		No	ClinGen ExAC TOPMed gnomAD
rs760774056 CA352623580	51	G>D		No	ClinGen ExAC TOPMed gnomAD
rs760774056 CA2377635	51	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1380856317 CA352623572	52	K>E		No	ClinGen gnomAD
CA352623396 rs1316901404	59	L>V		No	ClinGen gnomAD
rs536710659 CA2377633	60	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2377632 rs759958236	61	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2377631 rs147977517	61	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	61	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423218886 CA543045119	62	Y>*		No	ClinGen gnomAD
rs1224799964 CA352623255	65	W>C		No	ClinGen gnomAD
rs771177958 CA352623167	69	P>H		No	ClinGen ExAC TOPMed gnomAD
rs771177958 CA2377630	69	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1560177640 CA352623145	70	T>N		No	ClinGen Ensembl
TCGA novel	70	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2377628 rs776458096	71	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761570064 CA2377629	71	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2377590 rs760450389	72	E>A		No	ClinGen ExAC gnomAD
rs1343855114 CA352622936	74	N>D		No	ClinGen gnomAD
rs1256065719 CA352622927	74	N>S		No	ClinGen TOPMed gnomAD
CA352622834 rs1560177249	79	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs758988856 CA2377587	79	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1335156706 CA352622824	80	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201114950 CA2377586	80	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2377584 rs749211693	82	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749211693 CA352622792	82	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs143428445 CA2377582	83	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352622728 rs1179620862	86	Y>C		No	ClinGen gnomAD
CA2377581 rs747899976	88	S>C		No	ClinGen ExAC gnomAD
rs781294678 CA2377579	91	F>C		No	ClinGen ExAC gnomAD
CA352622588 rs1191878614	92	F>Y		No	ClinGen Ensembl
rs569405949 CA2377575	95	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2377574 rs569405949	95	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352622515 rs1560177096	95	D>V		No	ClinGen Ensembl
rs1201640049 CA352622494	96	N>S		No	ClinGen gnomAD
rs1479347851 CA352622486	97	E>*		No	ClinGen gnomAD
TCGA novel	98	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770981607 CA73959669	99	G>A		No	ClinGen gnomAD
CA352622450 rs1273314087	99	G>S		No	ClinGen gnomAD
CA352622395 rs1344941561	103	R>G		No	ClinGen gnomAD
CA73959668 rs1020785000	104	K>R		No	ClinGen Ensembl
CA73955378 rs1049577424	105	Q>*		No	ClinGen TOPMed
rs1349631795 CA352621550	106	C>Y		No	ClinGen TOPMed
rs947230350 CA73955372	107	A>V		No	ClinGen TOPMed
CA352621523 rs1328721965	109	A>T		No	ClinGen gnomAD
CA352621520 rs1269050279	109	A>V		No	ClinGen gnomAD
rs1273288705 CA352621499	111	L>F		No	ClinGen TOPMed
CA73955365 rs368835932	112	R>C		No	ClinGen ESP TOPMed gnomAD
CA2377545 rs147704999	112	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs776351200 CA352621466	114	V>F		No	ClinGen ExAC TOPMed gnomAD
rs776351200 CA2377543	114	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2377541 rs375537794	115	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA73955331 rs768472833	115	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2377538 rs745957312	116	R>Q		No	ClinGen ExAC gnomAD
CA2377539 rs140464894	116	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs779067127 CA2377537	117	F>V		No	ClinGen ExAC gnomAD
CA352621415 rs1300463585	119	S>G		No	ClinGen TOPMed
CA2377536 rs771632526	119	S>N		No	ClinGen ExAC gnomAD
CA352621402 rs1249014311	119	S>R		No	ClinGen gnomAD
rs1464694976 CA352621374	121	E>D		No	ClinGen TOPMed gnomAD
rs1249056527 CA352621363	122	G>A		No	ClinGen TOPMed gnomAD
CA352621364 rs1249056527	122	G>E		No	ClinGen TOPMed gnomAD
CA352621368 rs1301741570	122	G>R		No	ClinGen TOPMed
CA73955291 rs970291168	123	G>*		No	ClinGen TOPMed
CA352621353 rs759005458	123	G>A		No	ClinGen ExAC gnomAD
rs759005458 CA2377534	123	G>V		No	ClinGen ExAC gnomAD
rs1560171077	124	H>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756534987 CA2377531	126	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1210878344 CA352620636	130	A>D		No	ClinGen gnomAD
CA352620643 rs1478930701	130	A>T		No	ClinGen Ensembl
CA2377517 rs771012759	131	T>A		No	ClinGen ExAC gnomAD
CA2377516 rs373311579	132	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs773793520 CA2377515	132	N>T		No	ClinGen ExAC gnomAD
rs748520043 CA2377513	135	R>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	136	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429783607 CA352620564	136	E>G		No	ClinGen TOPMed
CA352620554 rs1316929795	137	R>Q		No	ClinGen gnomAD
rs781535165 CA2377512	137	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352620548 rs1168216619	138	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA352620541 rs758109236	139	A>E		No	ClinGen ExAC TOPMed gnomAD
CA2377511 rs758109236	139	A>V		No	ClinGen ExAC TOPMed gnomAD
rs745501501 CA2377510	142	F>S		No	ClinGen ExAC TOPMed gnomAD
rs778431721 CA2377509	145	G>R		No	ClinGen ExAC gnomAD
TCGA novel	146	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756818375 CA2377508	147	Q>H		No	ClinGen ExAC gnomAD
CA352620419 rs1429660139	148	N>H		No	ClinGen gnomAD
rs200524007 CA2377506	149	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200524007 CA2377507	149	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs755936336	151	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs765213677 CA2377480	152	T>A		No	ClinGen ExAC gnomAD
rs891790511 CA352620214	153	F>I		No	ClinGen TOPMed gnomAD
CA73951862 rs891790511	153	F>L		No	ClinGen TOPMed gnomAD
CA2377479 rs762352552	154	F>V		No	ClinGen ExAC
rs371774968 CA2377478	155	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377476 rs761038028	156	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2377475 rs775648351	157	S>P		No	ClinGen ExAC gnomAD
rs1263311824 CA352620118	158	I>V		No	ClinGen gnomAD
rs146768602 CA2377473	161	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs770681632 CA2377474	161	D>N		No	ClinGen ExAC gnomAD
CA352620028 rs1385535717	163	E>*		No	ClinGen gnomAD
CA352620034 rs1385535717	163	E>K		No	ClinGen gnomAD
rs777391793 CA2377472	164	V>I		No	ClinGen ExAC gnomAD
CA2377470 rs747613310	167	A>T		No	ClinGen ExAC gnomAD
rs745480272 CA73951819	168	N>D		No	ClinGen gnomAD
CA73951818 rs1017850716	168	N>K		No	ClinGen TOPMed
rs368178794 CA2377469	168	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142259243 CA352619927	170	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377467 rs142259243	170	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA352619742 rs1482623883	172	V>G		No	ClinGen gnomAD
CA2377448 rs779943802	175	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1560166390 CA352619637	178	D>A		No	ClinGen Ensembl
CA2377446 rs370415530	179	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377444 rs779116879	180	V>I		No	ClinGen ExAC gnomAD
VAR_036075	181	N>K	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs146141332 COSM1423758 CA2377442	181	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs146141332 CA2377443	181	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA352619556 rs1310787200	182	R>L		No	ClinGen gnomAD
CA352619529 rs1314852351	183	D>E		No	ClinGen gnomAD
rs1402920937 CA352619550	183	D>N		No	ClinGen gnomAD
CA2377440 rs756692796	185	D>E		No	ClinGen ExAC
rs1436489090 CA352619499	185	D>N		No	ClinGen gnomAD
TCGA novel	186	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352619441 rs1458682166	187	A>G		No	ClinGen gnomAD
CA352619450 rs1489819318	187	A>T		No	ClinGen TOPMed
rs1201329525 CA352619431	188	T>A		No	ClinGen TOPMed
rs139670782 CA2377437	188	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA352619415 rs1184879381	189	E>K		No	ClinGen gnomAD
TCGA novel	191	F>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352619327 rs1189531118	192	M>I		No	ClinGen gnomAD
CA352619339 rs1256228302	192	M>L		No	ClinGen gnomAD
CA352619302 rs1162212733	193	R>K		No	ClinGen TOPMed gnomAD
rs1411755385 CA352619285	194	R>C		No	ClinGen TOPMed
CA73951063 rs776332395	194	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2377433 rs776332395	194	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1264053599 CA352619261	195	I>T		No	ClinGen gnomAD
CA73951060 rs934188775	195	I>V		No	ClinGen TOPMed gnomAD
CA2377432 rs376216416	197	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs149487791 CA2377429	198	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377430 rs149487791	198	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377431 rs746491915	198	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs778672950 CA2377428	200	N>K		No	ClinGen ExAC gnomAD
rs555739425 CA2377426	201	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2377425 rs749487577	202	Y>C		No	ClinGen ExAC
rs777870629 CA2377424	203	E>K		No	ClinGen ExAC gnomAD
CA2377423 rs756179637	204	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1398296056 CA352619086	204	S>P		No	ClinGen gnomAD
CA352619036 rs1418175757	207	E>*		No	ClinGen gnomAD
CA73950919 rs201882711	208	D>E		No	ClinGen Ensembl
CA2377419 rs755506327	210	D>G		No	ClinGen ExAC gnomAD
rs1387536597 CA352617601	214	S>P		No	ClinGen gnomAD
rs1401985075 CA352617583	215	Y>C		No	ClinGen gnomAD
CA352617568 rs1399460172	216	I>N		No	ClinGen TOPMed gnomAD
CA352617566 rs1399460172	216	I>T		No	ClinGen TOPMed gnomAD
rs1172459866 CA352617556	217	K>R		No	ClinGen gnomAD
rs1187143400 CA352617529	219	M>I		No	ClinGen gnomAD
CA352617538 rs1397260404	219	M>V		No	ClinGen gnomAD
rs1449059972 CA352617515	220	D>G		No	ClinGen gnomAD
rs867517000 CA73949010	222	G>D		No	ClinGen gnomAD
rs750763322 CA2377395	222	G>S		No	ClinGen ExAC gnomAD
rs867517000 CA352617491	222	G>V		No	ClinGen gnomAD
rs368490789 CA2377393	226	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA352617431 rs1199750670	227	V>M		No	ClinGen TOPMed gnomAD
rs367575606 CA2377392	229	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305352947 CA352617399	229	R>H		No	ClinGen TOPMed gnomAD
rs1225950567 CA352617389	230	V>G		No	ClinGen gnomAD
CA2377391 rs767015937	231	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2377390 rs767015937	231	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1221445748 CA352617366	233	H>N		No	ClinGen Ensembl
rs770807116 CA2377388	234	I>T		No	ClinGen ExAC TOPMed gnomAD
rs774304530 CA2377389	234	I>V		No	ClinGen ExAC TOPMed gnomAD
rs142674001 CA2377387	237	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373807131 CA2377386	237	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373807131 CA352617302	237	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377385 rs769967046	238	I>V		No	ClinGen ExAC gnomAD
rs781167335 CA2377383	239	V>I		No	ClinGen ExAC gnomAD
CA352617259 rs1188438836	241	Y>H		No	ClinGen gnomAD
CA352617241 rs1266313186	242	L>F		No	ClinGen TOPMed
CA2377381 rs747033027	244	N>H		No	ClinGen ExAC gnomAD
rs758913097 CA2377379 COSM1220246	247	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750888058 CA2377378	248	T>I		No	ClinGen ExAC gnomAD
rs1575376022 CA352617165	248	T>P		No	ClinGen Ensembl
CA2377376 rs142200739	250	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377375 rs142200739	250	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156365982 CA352617141	250	R>H		No	ClinGen TOPMed
CA2377377 rs142200739	250	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA73948934 rs1055339270	252	I>V		No	ClinGen TOPMed gnomAD
rs796981413 CA73948922	254	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs767038295 CA2377374	255	C>Y		No	ClinGen ExAC gnomAD
CA2377372 rs751012777	256	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM583894 CA2377373 rs371118487	256	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs372708182 CA2377371	258	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA352617057 rs372708182	258	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs773932178 CA73948885	259	E>K		No	ClinGen Ensembl
CA2377369 rs772927936	260	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2377366 rs776930637	261	E>G		No	ClinGen ExAC gnomAD
CA2377367 rs761472400	261	E>K		No	ClinGen ExAC TOPMed gnomAD
CA73948819 rs770595468	264	L>R		No	ClinGen Ensembl
rs1476199296 CA352616969	264	L>V		No	ClinGen gnomAD
CA2377363 rs780281012	266	G>C		No	ClinGen ExAC gnomAD
rs550543115 CA2377361	267	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2377362 rs376923655	267	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs780911722 CA2377357	270	G>E		No	ClinGen ExAC gnomAD
rs749567992 CA2377358	270	G>R		No	ClinGen ExAC gnomAD
rs1336212152 CA352616875	272	P>S		No	ClinGen gnomAD
CA2377355 rs192763004	277	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2377353 rs148961198	277	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2377354 rs192763004	277	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750404017 CA352616783	280	E>D		No	ClinGen ExAC TOPMed gnomAD
rs917059938 CA73948771	280	E>G		No	ClinGen Ensembl
CA2377333 rs557174629	283	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1194103019 CA352616261	285	L>V		No	ClinGen gnomAD
CA352616249 rs1455280709	286	A>S		No	ClinGen TOPMed gnomAD
rs1485885538 CA352616164	292	Q>*		No	ClinGen gnomAD
rs980768139 CA73948153	294	I>T		No	ClinGen Ensembl
CA352616096 rs1261972749	297	L>M		No	ClinGen gnomAD
CA73948146 rs1025045425	299	V>D		No	ClinGen TOPMed gnomAD
rs970837696 CA73948151	299	V>I		No	ClinGen Ensembl
rs972664824 CA73948134	301	T>A		No	ClinGen Ensembl
CA352616028 rs1258582305	302	S>T		No	ClinGen gnomAD
rs1348897305 CA352615995	304	M>I		No	ClinGen TOPMed
rs1170713570 CA352616006	304	M>L		No	ClinGen TOPMed
rs767799756 CA2377327	304	M>T		No	ClinGen ExAC gnomAD
CA352615967 rs1575374300 TCGA novel	307	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA73948088 rs867164870	309	Q>*		No	ClinGen Ensembl
CA352615928 rs1382999518	310	T>A		No	ClinGen TOPMed gnomAD
CA2377326 rs759675606	310	T>M		No	ClinGen ExAC TOPMed gnomAD
CA73948033 rs944791416	312	E>K		No	ClinGen TOPMed gnomAD
rs1560162264 CA352615888	313	A>V		No	ClinGen Ensembl
CA352615879 rs1374816757	315	G>A		No	ClinGen gnomAD
CA2377324 rs767995547	315	G>R		No	ClinGen ExAC gnomAD
rs1295243187 CA352615877	316	V>M		No	ClinGen TOPMed
rs773605837 CA2377322	317	P>H		No	ClinGen ExAC gnomAD
rs1191941743 CA352615862	318	Y>C		No	ClinGen gnomAD
CA352615848 rs1214904047	320	Q>*		No	ClinGen TOPMed
rs1575374132 CA352615820	323	V>G		No	ClinGen Ensembl
rs770173610 CA2377321	325	N>D		No	ClinGen ExAC gnomAD
CA2377318 rs771553926	326	E>D		No	ClinGen ExAC gnomAD
CA2377319 rs779691575	326	E>K		No	ClinGen ExAC gnomAD
rs745445999 CA73947962	327	I>M		No	ClinGen ExAC TOPMed gnomAD
rs554595347 CA2377316	328	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753690785	329	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2377315 rs757272250	329	A>V		No	ClinGen ExAC TOPMed gnomAD
rs752607431	330	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2377292 rs190650932	331	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190650932 CA2377293	331	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	334	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766573522 CA2377290	335	M>I		No	ClinGen ExAC gnomAD
CA2377291 rs146341997	335	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183189736 CA352646617	338	E>A		No	ClinGen gnomAD
COSM583896 CA2377288 rs201998835	338	E>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1265711921 CA352646447	343	N>S		No	ClinGen gnomAD
CA352646448 rs1265711921	343	N>T		No	ClinGen gnomAD
rs762291398 CA2377286	344	Y>H		No	ClinGen ExAC gnomAD
rs1275117281 CA352646308	347	E>G		No	ClinGen gnomAD
TCGA novel	349	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA73971109 rs142378118	349	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs1337253903 COSM2157073 CA352646134	351	R>Q	central_nervous_system Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs943355847 CA73971105	351	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2377283 rs761063011	352	D>N		No	ClinGen ExAC gnomAD
CA352646082 rs1394815194	353	Q>*		No	ClinGen gnomAD
CA2377280 rs760014920	356	Y>*		No	ClinGen ExAC TOPMed gnomAD
COSM3945536 rs769910590 CA2377278	357	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs772844956 CA2377279	357	R>W		No	ClinGen ExAC gnomAD
rs781144602 CA2377276	359	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748067084 CA2377277	359	R>W		No	ClinGen ExAC gnomAD
rs144489554 CA73970467	366	Y>C		No	ClinGen ESP gnomAD
rs1270237148 CA352645325	370	V>I		No	ClinGen gnomAD
rs746844283 CA2377257	373	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA73970445 rs890022939	374	E>Q		No	ClinGen Ensembl
CA2377255 rs758664892	375	P>L		No	ClinGen ExAC gnomAD
CA352645197 rs1415954898	376	V>I		No	ClinGen gnomAD
rs1478838689 CA352645151	378	M>V		No	ClinGen TOPMed
rs746062532 CA2377254	379	E>Q		No	ClinGen ExAC gnomAD
CA352645085 rs1409578092	381	E>Q		No	ClinGen gnomAD
TCGA novel	384	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757352646 CA2377252	385	N>S		No	ClinGen ExAC gnomAD
CA2377251 rs753901191	387	L>P		No	ClinGen ExAC gnomAD
rs764514922 CA2377250	390	C>G		No	ClinGen ExAC TOPMed gnomAD
rs764514922 CA352644849	390	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1172144710 CA352644839	390	C>S		No	ClinGen TOPMed
rs1397177808 CA352644810	391	H>R		No	ClinGen TOPMed
rs1279515873 CA352644690	395	M>I		No	ClinGen gnomAD
rs1575353743 CA352644705	395	M>L		No	ClinGen Ensembl
rs756641947 CA2377249	396	R>C		No	ClinGen ExAC gnomAD
CA352644677 rs1575353708	396	R>H		No	ClinGen Ensembl
CA2377248 rs779586411	401	Y>W		No	ClinGen ExAC
CA2377246 rs201508846	404	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321412778 CA352644430	405	K>E		No	ClinGen TOPMed
rs1436839914 CA352644403	406	A>T		No	ClinGen gnomAD
CA352644374 rs1273207548	406	A>V		No	ClinGen gnomAD
rs751904428 CA2377226	409	Q>H		No	ClinGen ExAC gnomAD
CA352643212 rs1575353290	411	P>S		No	ClinGen Ensembl
rs576105789 CA2377223	414	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2377221 rs760066739	416	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352643057 rs760066739	416	P>Q		No	ClinGen ExAC gnomAD
rs1453643214 CA352642990	418	H>Q		No	ClinGen gnomAD
CA2377218 rs137991047	418	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2377217 rs774128971	419	T>I		No	ClinGen ExAC TOPMed gnomAD
CA352642867 rs1487139216	424	T>S		No	ClinGen TOPMed
rs749504268 CA2377215	425	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2377214 rs777756735	428	Y>C		No	ClinGen ExAC gnomAD
CA73970279 rs1012029689	428	Y>H		No	ClinGen TOPMed
CA352642688 rs1374614894	431	K>E		No	ClinGen gnomAD
rs1316769601 CA352642678	432	V>A		No	ClinGen gnomAD
CA2377194 rs769841784	432	V>M		No	ClinGen ExAC gnomAD
CA352642661 rs1371030299	435	I>V		No	ClinGen TOPMed gnomAD
CA352642644 rs1169330505	437	L>P		No	ClinGen TOPMed gnomAD
rs1428552432 CA352642641	438	N>D		No	ClinGen gnomAD
CA2377192 COSM1220247 rs141236965	440	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1258619103 CA352642613	442	V>A		No	ClinGen gnomAD
CA352642610 rs1560148627	443	N>D		No	ClinGen Ensembl
rs375766878 CA73969639	444	T>M		No	ClinGen ESP TOPMed gnomAD
rs200139068 CA2377191	445	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1322609506 CA352642595	445	H>L		No	ClinGen TOPMed gnomAD
rs1322609506 CA352642596	445	H>R		No	ClinGen TOPMed gnomAD
rs200139068 CA2377190	445	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758816952 CA2377188	446	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2377189 rs560145811	446	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73969617 rs760177563	447	D>N		No	ClinGen gnomAD
rs959743162 CA73968921	452	V>M		No	ClinGen TOPMed
rs776157810 CA2377172	453	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1575347282 CA352642471	453	D>N		No	ClinGen Ensembl
CA352642454 rs1452334661	454	I>L		No	ClinGen TOPMed gnomAD
rs1452334661 CA352642453	454	I>V		No	ClinGen TOPMed gnomAD
CA352642426 rs1575347253	456	R>S		No	ClinGen Ensembl
rs772395374 CA2377171	457	P>L		No	ClinGen ExAC gnomAD
rs746315819 CA2377170	459	E>G		No	ClinGen ExAC gnomAD
rs1034100955 CA73968917	459	E>K		No	ClinGen TOPMed
COSM1220244 rs200999055 CA2377168	464	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs557981060 CA73968911	469	Q>H		No	ClinGen 1000Genomes gnomAD
rs1431155732 CA907748453	469	Q>R		No	ClinGen TOPMed

No associated diseases with Q16877

2 regional properties for Q16877

Type	Name	Position	InterPro Accession
domain	Recombinase Flp protein, C-terminal	136 - 422	IPR005626
domain	Recombinase Flp protein, N-terminal	44 - 128	IPR022647

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 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.

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.

2 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.

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
Q16875	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3	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
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
Q9JJH5	Pfkfb2	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2	Rattus norvegicus (Rat)	PR
P25114	Pfkfb4	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MASPRELTQN	PLKKIWMPYS	NGRPALHACQ	RGVCMTNCPT	LIVMVGLPAR	GKTYISKKLT
70	80	90	100	110	120
RYLNWIGVPT	REFNVGQYRR	DVVKTYKSFE	FFLPDNEEGL	KIRKQCALAA	LRDVRRFLSE
130	140	150	160	170	180
EGGHVAVFDA	TNTTRERRAT	IFNFGEQNGY	KTFFVESICV	DPEVIAANIV	QVKLGSPDYV
190	200	210	220	230	240
NRDSDEATED	FMRRIECYEN	SYESLDEDLD	RDLSYIKIMD	VGQSYVVNRV	ADHIQSRIVY
250	260	270	280	290	300
YLMNIHVTPR	SIYLCRHGES	ELNLKGRIGG	DPGLSPRGRE	FAKSLAQFIS	DQNIKDLKVW
310	320	330	340	350	360
TSQMKRTIQT	AEALGVPYEQ	WKVLNEIDAG	VCEEMTYEEI	QDNYPLEFAL	RDQDKYRYRY
370	380	390	400	410	420
PKGESYEDLV	QRLEPVIMEL	ERQENVLVIC	HQAVMRCLLA	YFLDKAAEQL	PYLKCPLHTV
430	440	450	460
LKLTPVAYGC	KVESIFLNVA	AVNTHRDRPQ	NVDISRPPEE	ALVTVPAHQ