AiPD: Autoinhibited Protein Database

Q14209

Gene name	E2F2
Protein name	Transcription factor E2F2
Names	E2F-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1870
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-161 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-161 (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

2 structures for Q14209

Entry ID	Method	Resolution	Chain	Position	Source
1N4M	X-ray	220 A	C/D/E	410-427	PDB
AF-Q14209-F1	Predicted				AlphaFoldDB

353 variants for Q14209

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs767057581 CA338987205	5	P>H		No	ExAC gnomAD ClinGen
CA683529 rs767057581	5	P>R		No	ClinGen ExAC gnomAD
CA683530 rs774279334	5	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1364019963 CA338987202	6	R>Q		No	TOPMed gnomAD ClinGen
rs773794419 CA683527	6	R>W		No	ClinGen ExAC gnomAD
rs770308147 CA683526	7	A>P		No	ClinGen ExAC gnomAD
CA683525 rs748605125	9	A>S		No	ExAC TOPMed gnomAD ClinGen
CA338987187 rs748605125	9	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1302245919 CA338987183	9	A>V		No	gnomAD ClinGen
CA19243259 rs887164490	10	S>L		No	TOPMed gnomAD ClinGen
CA338987172 rs1170574415	11	A>V		No	ClinGen TOPMed gnomAD
rs939849766 CA19243250	12	A>S		No	TOPMed gnomAD ClinGen
rs939849766 CA338987171	12	A>T		No	ClinGen TOPMed gnomAD
CA338987165 rs1275756255	13	G>E		No	ClinGen TOPMed
CA683524 rs75815067 CA683523	13	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA338987149 rs1257328289	15	T>I		No	ClinGen TOPMed gnomAD
rs1484979378 CA338987145	16	P>R		No	gnomAD ClinGen
rs981777823 CA19243204	16	P>T		No	ClinGen gnomAD
rs757837521 CA683519	17	K>M		No	ClinGen ExAC TOPMed gnomAD
CA338987131 rs1338176519	18	V>A		No	ClinGen gnomAD
CA338987133 rs1338176519	18	V>G		No	gnomAD ClinGen
CA338987127 rs1301282728	19	V>E		No	ClinGen TOPMed
rs1268086963 CA338987128	19	V>L		No	ClinGen gnomAD
rs1340653366 CA338987124	20	P>A		No	gnomAD ClinGen
rs1055401411 CA19243192	21	A>P		No	ClinGen TOPMed
CA683518 rs745820265	21	A>V		No	ClinGen ExAC TOPMed gnomAD
CA338987102 rs1372350553	23	S>N		No	ClinGen gnomAD
rs1308552699 CA338987092	24	P>L		No	ClinGen TOPMed gnomAD
CA338987096 rs1460225793	24	P>S		No	TOPMed ClinGen
rs1395827307 CA338987086	25	T>I		No	gnomAD ClinGen
rs1473913818 CA338987054	30	S>F		No	ClinGen TOPMed gnomAD
rs1480837233 CA338987043	32	L>F		No	ClinGen TOPMed
rs35749763 CA683516	33	S>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA338987031 rs1197934903	34	S>G		No	ClinGen TOPMed
CA683515 rs753553818	34	S>R		No	ExAC TOPMed gnomAD ClinGen
rs1253099264 CA338987020	35	P>L		No	TOPMed ClinGen
rs925213705 CA19243188	37	L>V		No	ClinGen TOPMed
rs1254676813 CA338987003	38	C>Y		No	ClinGen gnomAD
rs755146748 CA683513	40	A>S		No	ClinGen ExAC gnomAD
rs751759955 CA683512	40	A>V		No	ClinGen ExAC TOPMed gnomAD
CA683511 rs370911026	42	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA338986972 rs1570477354	43	T>I		No	ClinGen Ensembl
CA338986967 rs1280774510	44	Y>C		No	TOPMed ClinGen
TCGA novel	44	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs913627979 CA19243179	46	T>I		No	ClinGen TOPMed
rs1371237761 CA338986953	46	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	47	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA683510 rs763074777	47	P>R		No	ClinGen ExAC gnomAD
CA338986950 rs1211068668	47	P>S		No	ClinGen gnomAD
rs762291003 CA338986945	48	L>M		No	ExAC gnomAD ClinGen
rs762291003 CA683507	48	L>V		No	ClinGen ExAC gnomAD
rs754338533 CA19243168	50	P>L		No	ClinGen Ensembl
rs1352095809 CA338986931	50	P>S		No	gnomAD ClinGen
CA19243135 rs768422081	52	T>M		No	ClinGen ExAC TOPMed gnomAD
CA683505 rs768422081	52	T>R		No	ExAC TOPMed gnomAD ClinGen
rs775066699 CA683503	53	A>T		No	ExAC gnomAD ClinGen
CA338986910 rs1407094379	54	P>S		No	ClinGen gnomAD
CA683501 rs745348924	57	A>V		No	ClinGen ExAC gnomAD
rs1460243284 CA338986888	58	A>T		No	ClinGen gnomAD
CA683500 rs778871188	58	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1160298417 CA338986881	59	P>S		No	gnomAD ClinGen
rs749170136 CA683499	61	T>A		No	ExAC gnomAD ClinGen
rs749170136 CA683498	61	T>P		No	ClinGen ExAC gnomAD
rs1200390453 CA338986863	62	C>F		No	ClinGen gnomAD
rs543907204 CA683497	62	C>R		No	1000Genomes ExAC gnomAD ClinGen
rs1252068025 CA338986858	63	L>P		No	gnomAD ClinGen
rs755878755 CA683496	63	L>V		No	ClinGen ExAC gnomAD
CA338986847 rs1211405626	65	A>T		No	ClinGen gnomAD
CA338986842 rs1181509469	65	A>V		No	gnomAD ClinGen
CA338986841 rs1364886639	66	T>A		No	ClinGen TOPMed
rs867598693 CA19243078	68	H>Y		No	ClinGen Ensembl
rs758593851 CA683493	69	G>E		No	ClinGen ExAC gnomAD
CA338986812 rs1570477194	70	P>L		No	Ensembl ClinGen
CA683492 rs765834186	71	E>K		No	ClinGen ExAC gnomAD
CA683491 rs765834186	71	E>Q		No	ExAC gnomAD ClinGen
CA338986805 rs1371778244	72	G>R		No	TOPMed gnomAD ClinGen
CA338986804 rs1371778244	72	G>S		No	TOPMed gnomAD ClinGen
CA338986795 rs1203950642	73	Q>R		No	ClinGen TOPMed
rs1439009933 CA338986786	74	V>G		No	gnomAD ClinGen
rs754304986 CA683489	76	R>*		No	ClinGen ExAC gnomAD
TCGA novel	76	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761052805 CA683487	79	P>L		No	ExAC TOPMed gnomAD ClinGen
rs761052805 CA19243041	79	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1260813959 CA338986748	81	G>D		No	ClinGen TOPMed
CA338986752 rs1199629734	81	G>S		No	gnomAD ClinGen
CA338986744 rs1478094945	82	R>Q		No	gnomAD ClinGen
rs3218125 CA683483	82	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338986736 rs1329228732	83	L>P		No	ClinGen TOPMed
rs777714546	84	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA338997571 rs1558254149	87	R>T		No	Ensembl ClinGen
rs768500868 CA683454	92	E>D		No	ClinGen ExAC gnomAD
rs1354588868 CA338997519	92	E>Q		No	ClinGen gnomAD
rs147290962 CA683453	94	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA19282911 rs566662712	95	G>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs566662712 CA683452	95	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868209073 CA19282900	97	P>L		No	Ensembl ClinGen
CA338997476 rs1248775252	98	V>A		No	TOPMed gnomAD ClinGen
rs374901202 CA683448	98	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs374901202 CA683447	98	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA683445 rs562882168	99	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562882168 CA683444	99	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA683442 rs766021202	101	E>G		No	ExAC TOPMed gnomAD ClinGen
CA338997448 rs1558254028	101	E>Q		No	Ensembl ClinGen
CA338997429 rs1489087432	102	F>V		No	ClinGen gnomAD
rs1283743593 CA338997427	102	F>Y		No	TOPMed ClinGen
CA683441 rs141654016	104	T>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs1313734832 CA338997394	104	T>I		No	Ensembl ClinGen
CA338997404 rs141654016	104	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558253994 CA338997390	105	P>A		No	ClinGen Ensembl
rs1368034017 CA338997385	105	P>L		No	ClinGen TOPMed
CA338997375 rs1355187187	106	K>R		No	gnomAD ClinGen
CA338997363 rs1412249016	107	G>E		No	gnomAD ClinGen
rs1292031937 CA338997369	107	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338997314 rs1297109173	111	R>S		No	gnomAD ClinGen
CA338997292 rs1570470844	113	D>E		No	Ensembl ClinGen
CA683437 rs776652197	113	D>N		No	ClinGen ExAC gnomAD
rs760507580 CA683435	114	G>D		No	ExAC gnomAD ClinGen
rs973803149 CA19282840	114	G>S		No	gnomAD ClinGen
rs760507580 CA683436	114	G>V		No	ClinGen ExAC gnomAD
rs1161049106 CA338997272	116	P>L		No	ClinGen gnomAD
TCGA novel	117	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA683433 rs368065943	117	S>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs749394365 CA683432	118	P>L		No	ClinGen ExAC gnomAD
CA338997245 rs749394365	118	P>R		No	ExAC gnomAD ClinGen
CA683430 rs376853137	119	K>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA338996724 rs1195557902	121	P>A		No	ClinGen gnomAD
rs769889541 CA683405	122	K>T		No	ExAC gnomAD ClinGen
CA338996705 rs1384204087	124	P>A		No	TOPMed ClinGen
rs748192720 CA683404	124	P>L		No	ExAC gnomAD ClinGen
rs764211496 CA19280765	125	G>R		No	ClinGen gnomAD
CA338996701 rs764211496	125	G>W		No	gnomAD ClinGen
rs1345077233 CA338996692	126	E>G		No	ClinGen gnomAD
rs1362482153 CA338996696	126	E>K		No	gnomAD ClinGen
rs769140877 CA683402	128	T>S		No	ExAC gnomAD ClinGen
rs374483392 CA683400	129	R>Q		No	ClinGen ESP ExAC TOPMed
rs747402379 CA683401	129	R>W		No	ClinGen ExAC TOPMed gnomAD
rs750113822 CA683398	130	Y>*		No	ClinGen ExAC
rs1367486313 CA338996668	130	Y>C		No	ClinGen TOPMed
rs778670474 CA683397	133	S>L		No	ExAC gnomAD ClinGen
CA338996614 rs1426418965	139	K>R		No	TOPMed ClinGen
CA338996597 rs1434230579	141	F>C		No	TOPMed gnomAD ClinGen
rs1169675751 CA338996591	142	I>T		No	TOPMed gnomAD ClinGen
rs764192934 CA683394	142	I>V		No	ClinGen ExAC TOPMed gnomAD
CA683393 rs760666231	143	Y>C		No	ExAC gnomAD ClinGen
rs767362758 CA683391	147	E>K		No	ClinGen ExAC TOPMed gnomAD
CA683390 rs759208136	147	E>V		No	ClinGen ExAC gnomAD
rs1258872157 CA338996551	148	S>L		No	gnomAD ClinGen
CA338996547 rs1286025688	149	E>G		No	gnomAD ClinGen
CA19280636 rs922487690	150	D>G		No	ClinGen TOPMed
rs1570467653 CA338996526	152	V>G		No	ClinGen Ensembl
rs765421608 CA683388	154	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA338996493 rs1249247125	157	W>*		No	ClinGen gnomAD
rs761941462 CA683387	157	W>R		No	ClinGen ExAC gnomAD
rs1234978800 CA338996490	158	A>T		No	TOPMed gnomAD ClinGen
rs776691347 CA683386	159	A>S		No	ExAC TOPMed gnomAD ClinGen
CA338996483 rs776691347	159	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747569073 CA338996460	163	D>H		No	ClinGen ExAC TOPMed gnomAD
CA683384 rs747569073	163	D>N		No	ExAC TOPMed gnomAD ClinGen
rs1166335362 CA338996441	165	Q>H		No	gnomAD ClinGen
CA338996421 COSM368400 rs1419056781	168	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs778758642 CA683380	169	I>V		No	ClinGen ExAC gnomAD
TCGA novel	170	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338996364 rs1300365771	177	E>K		No	TOPMed ClinGen
CA19280567 rs1009862686	183	R>C		No	ClinGen TOPMed gnomAD
CA338996322 rs976627844	183	R>H		No	ClinGen TOPMed
CA19280561 rs976627844	183	R>P		No	TOPMed ClinGen
rs1215153959 CA338996306	185	K>N		No	ClinGen gnomAD
CA338996294 rs1426681947	187	K>R		No	ClinGen TOPMed
rs752706765 CA683375	189	N>S		No	ExAC gnomAD ClinGen
rs1231159673 CA338996268	191	Q>K		No	gnomAD ClinGen
rs1352769956 CA338996257	192	W>*		No	ClinGen gnomAD
CA683372 rs751340499	193	V>I		No	ClinGen ExAC TOPMed
CA338996250 rs751340499	193	V>L		No	ClinGen ExAC TOPMed
rs1043141585 CA338996101	195	R>S		No	TOPMed gnomAD ClinGen
CA683352 rs758144267	196	G>E		No	ExAC TOPMed gnomAD ClinGen
CA338996080 rs1570466130	197	M>T		No	Ensembl ClinGen
CA338996064 rs1319335375	198	F>S		No	ClinGen gnomAD
CA338996036 rs1342464160	200	D>A		No	gnomAD ClinGen
rs947498080 CA19279816	200	D>E		No	TOPMed ClinGen
CA338996030 rs1342464160	200	D>G		No	gnomAD ClinGen
CA683349 rs369435993	201	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA683350 rs764191945	201	P>T		No	ExAC gnomAD ClinGen
CA338996015 rs1174992070	202	T>A		No	gnomAD ClinGen
CA683348 RCV000885939 rs116694174	202	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1174992070 CA338996014	202	T>P		No	gnomAD ClinGen
rs41306580 CA683345	203	R>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338995988 rs1242516158	204	P>R		No	ClinGen TOPMed gnomAD
CA683344 rs771452905	204	P>S		No	ExAC gnomAD ClinGen
CA338995996 rs771452905	204	P>T		No	ExAC gnomAD ClinGen
CA683343 rs2229297 VAR_018990	205	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA338995914 rs1487028613	210	L>V		No	TOPMed ClinGen
CA683342 rs772963218	213	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs376610526 CA19279755	216	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA338995823 rs1223216484	216	E>K		No	TOPMed ClinGen
CA19279735 rs868294847	219	N>S		No	Ensembl ClinGen
COSM906303 rs1298811001 CA338995718	220	T>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	Ensembl ClinGen cosmic curated NCI-TCGA
CA683338 rs768100037	223	A>V		No	ExAC TOPMed gnomAD ClinGen
rs2075995 VAR_018991 CA683337	226	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA683335 rs758230106	229	Q>H		No	ExAC TOPMed gnomAD ClinGen
rs750163521 CA683334	230	S>N		No	ClinGen ExAC gnomAD
rs1297654229 CA338995528	231	C>R		No	TOPMed ClinGen
rs778116310 CA683333	234	S>N		No	ExAC gnomAD ClinGen
CA683332 rs756292409	235	F>V		No	ExAC gnomAD ClinGen
CA683331 rs752904960	239	T>I		No	ClinGen ExAC TOPMed gnomAD
CA338995327 rs1558248408	242	K>Q		No	ClinGen Ensembl
CA338995314 rs1476714608	242	K>R		No	gnomAD ClinGen
CA683330 rs767516175	243	A>T		No	ExAC ClinGen
rs1558248377 CA338995271	244	N>I		No	Ensembl ClinGen
CA683329 rs201120779	246	R>G		No	ExAC TOPMed gnomAD ClinGen
CA19278248 rs763294507	250	V>M		No	Ensembl ClinGen
rs755157465 CA683311	251	T>A		No	ExAC gnomAD ClinGen
CA338994308 rs751675843	254	D>E		No	ClinGen ExAC gnomAD
rs767059371 CA683309	256	R>C		No	ClinGen ExAC gnomAD
rs758831870 CA683308	256	R>H		No	ExAC TOPMed gnomAD ClinGen
rs1570463506 CA338994244	258	V>A		No	Ensembl ClinGen
rs765543935 CA683306	258	V>I		No	ExAC gnomAD ClinGen
CA683305 rs762198846	260	N>S		No	ClinGen ExAC gnomAD
rs776186654 CA683304	262	K>N		No	ClinGen ExAC gnomAD
CA683303 rs763717824	263	E>Q		No	ClinGen ExAC gnomAD
CA683301 rs139052092	265	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA683302 rs760239009	265	T>S		No	ExAC gnomAD ClinGen
CA338994098 rs1355392592	266	V>M		No	TOPMed ClinGen
CA683299 rs745812677	269	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1037029186 CA19278162	270	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA683298 rs774301085	271	A>S		No	ExAC gnomAD ClinGen
rs770668556 CA683297 COSM320055	272	P>S	lung [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA683296 rs749086879	273	P>L		No	ClinGen ExAC gnomAD
CA338994009 rs749086879	273	P>Q		No	ClinGen ExAC gnomAD
CA338994012 rs1023290550	273	P>S		No	TOPMed gnomAD ClinGen
rs1023290550 CA19278130	273	P>T		No	ClinGen TOPMed gnomAD
CA338993993 rs1264250665	274	Q>R		No	ClinGen gnomAD
CA683294 rs141515224 COSM906302	275	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA683292 rs780297418	276	R>K		No	ClinGen ExAC gnomAD
CA338993927 rs1237252648	278	E>K		No	ClinGen gnomAD
rs754192176 CA683287	281	D>G		No	ExAC gnomAD ClinGen
rs757615854 CA683289	281	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs757615854 CA683288	281	D>Y		No	ExAC TOPMed gnomAD ClinGen
CA338993816 rs1484797100	284	E>K		No	ClinGen TOPMed
rs1342507861 CA338992963	285	D>G		No	ClinGen TOPMed gnomAD
rs756427666 CA683267	286	N>K		No	ExAC TOPMed gnomAD ClinGen
rs1227933357 CA338992914	288	Q>R		No	gnomAD ClinGen
rs146030461 CA683265	289	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA683264 rs767172422	290	Y>H		No	ExAC TOPMed gnomAD ClinGen
rs759025765 CA683263	292	K>R		No	ExAC gnomAD ClinGen
rs945681630 CA19275352	293	S>I		No	ClinGen Ensembl
CA338992830 rs1441882697	294	T>A		No	TOPMed ClinGen
CA683261 rs765738650	296	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1400418112 CA338992779	297	P>L		No	ClinGen gnomAD
rs1570459835 CA338992789	297	P>T		No	ClinGen Ensembl
rs1174715619 CA338992761	299	E>K		No	ClinGen gnomAD
rs1462862526 CA338992746	300	V>F		No	ClinGen gnomAD
CA683258 rs769743094	303	C>W		No	ExAC gnomAD ClinGen
rs761670871 CA683257	304	P>S		No	ExAC gnomAD ClinGen
TCGA novel	305	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338992628 rs1570459739	307	V>G		No	ClinGen Ensembl
CA683255 rs772329029	307	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338992614 rs1196032616	308	Q>R		No	gnomAD ClinGen
TCGA novel	309	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs116576730 RCV000887779 CA683254	310	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749823518 CA683251 CA19275215	311	D>E		No	ExAC TOPMed gnomAD ClinGen
CA683250 rs778219270	312	S>G		No	ClinGen ExAC gnomAD
rs1244237276 CA338992545	312	S>N		No	ClinGen gnomAD
CA683249 rs756515833	313	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA19275209 rs933945473	314	S>P		No	ClinGen Ensembl
rs975472351 CA19275195	315	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1329751602 CA338992486	317	P>T		No	gnomAD ClinGen
rs201302633 CA683245	318	L>F		No	1000Genomes ExAC gnomAD ClinGen
CA338992421 rs1570459564	323	T>P		No	Ensembl ClinGen
rs765934794 CA683244	324	L>V		No	ExAC gnomAD ClinGen
CA338992393 rs1181854169	325	C>Y		No	ClinGen gnomAD
rs1438719653 CA338992369	327	S>N		No	gnomAD ClinGen
rs750427985 CA683242	330	S>F		No	ExAC TOPMed gnomAD ClinGen
rs776485523 CA683239	334	S>N		No	ClinGen ExAC gnomAD
CA683238 rs768273132	335	S>G		No	ExAC gnomAD ClinGen
rs759820431 CA683237	335	S>N		No	ExAC gnomAD ClinGen
rs149369269 CA683236	336	S>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA683235 rs771080241	336	S>I		No	ExAC TOPMed gnomAD ClinGen
CA683233 rs114788023	338	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1418527136 CA338992162	342	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA338992167 rs1570459402	342	M>R		No	ClinGen Ensembl
CA338992173 rs1285659621	342	M>V		No	TOPMed ClinGen
CA683231 rs748587301	343	E>K		No	ClinGen ExAC gnomAD
rs781629178 CA683230	343	E>V		No	ExAC gnomAD ClinGen
CA19275082 rs964554918	344	P>L		No	ClinGen TOPMed
rs1320680333 CA338992135	345	T>A		No	TOPMed ClinGen
rs1018470305 CA19275081	345	T>I		No	ClinGen TOPMed
CA338992103 rs1570459350	348	S>T		No	ClinGen Ensembl
CA338990618 rs1339035619	349	V>G		No	ClinGen gnomAD
CA683206 rs745450429	353	A>V		No	ClinGen ExAC gnomAD
rs753848134 CA683203	356	P>L		No	ExAC TOPMed gnomAD ClinGen
CA338990578 rs753848134	356	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1049336725 CA19270029	357	Q>E		No	ClinGen TOPMed
TCGA novel	357	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338990565 rs1424082237	358	Q>L		No	gnomAD ClinGen
CA683202 rs763913178	360	P>L		No	ClinGen ExAC gnomAD
CA338990554 rs1476814390	360	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA683201 rs755992777	361	P>A		No	ClinGen ExAC gnomAD
CA683200 rs752426258	361	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763176248 CA683198	362	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338990539 rs1439706862	363	P>Q		No	gnomAD ClinGen
CA338990531 rs1259143614	364	S>F		No	ClinGen TOPMed gnomAD
rs1259143614 CA338990532	364	S>Y		No	ClinGen TOPMed gnomAD
rs1553182628 CA338990527	365	L>P		No	Ensembl ClinGen
rs866938398 CA19270019	367	P>L		No	gnomAD ClinGen
CA338990496 rs1377194615	370	A>T		No	ClinGen TOPMed
CA338990447 rs1377832194	373	S>G		No	ClinGen TOPMed gnomAD
CA683193 rs530082478	378	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA683192 rs530082478	378	P>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	379	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA683190 rs772511958	379	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA19269948 rs926264748	380	P>R		No	TOPMed gnomAD ClinGen
rs1258290589 CA338990289	383	Q>H		No	ClinGen TOPMed
rs1413169727 CA338990263	384	Q>L		No	gnomAD ClinGen
rs1180149002 CA338990251	385	T>I		No	gnomAD ClinGen
CA338990248 COSM906301 rs1441798367	386	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA338990239 rs1198452475	387	D>N		No	gnomAD ClinGen
CA338990222 rs1456711023	388	Q>H		No	ClinGen gnomAD
TCGA novel	390	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016525076 CA19269927	390	L>P		No	ClinGen Ensembl
rs778672424 CA683188	391	S>Y		No	ExAC gnomAD ClinGen
CA338990159 rs1222960869	392	P>L		No	TOPMed gnomAD ClinGen
rs777829086 CA683185	393	T>A		No	ClinGen ExAC TOPMed gnomAD
rs370898219 CA683184	394	L>Q		No	ClinGen ESP ExAC TOPMed
CA19269842 rs886819893	395	A>V		No	ClinGen TOPMed gnomAD
rs1308071583 CA338990114	396	C>G		No	ClinGen gnomAD
TCGA novel	399	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338990051 rs1414876513	400	L>M		No	ClinGen TOPMed
CA683182 rs142571891	403	F>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA19269812 rs1014160601	405	P>A		No	gnomAD ClinGen
TCGA novel	405	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338989966 rs1014160601	405	P>S		No	gnomAD ClinGen
rs750682155 CA683180	406	S>C		No	ClinGen ExAC gnomAD
CA19269801 rs750682155	406	S>F		No	ExAC gnomAD ClinGen
rs1421553260 CA338989900	408	D>E		No	gnomAD ClinGen
rs762013274 CA683178	409	Q>E		No	ExAC gnomAD ClinGen
rs753858882 CA19269790	409	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1299521619 CA338989878	410	D>N		No	ClinGen Ensembl
CA683175 rs563073079	411	D>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs368795371 CA683171	418	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338989766 rs1410024272	419	G>S		No	ClinGen TOPMed
CA683170 rs770482896	420	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338989749 rs1385986421	421	G>D		No	ClinGen gnomAD
CA338989707 rs1243101378	424	D>G		No	ClinGen TOPMed
COSM280700 CA338989715 rs1223287456	424	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs143218447 CA683166	427	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs1418127037 CA338989643	428	S>F		No	ClinGen gnomAD
CA338989616 rs1432965980	430	D>G		No	TOPMed gnomAD ClinGen
CA338989623 rs751344677	430	D>H		No	ExAC gnomAD ClinGen
CA683163 rs751344677	430	D>N		No	ClinGen ExAC gnomAD
rs763598357 CA338989584	433	D>H		No	Ensembl ClinGen
CA19269691 rs763598357	433	D>N		No	Ensembl ClinGen
CA683158 rs771412509	437	N>E		No	ExAC gnomAD ClinGen
rs754037288 CA683160	437	N>H		No	ClinGen ExAC gnomAD

No associated diseases with Q14209

2 regional properties for Q14209

Type	Name	Position	InterPro Accession
domain	E2F/DP family, winged-helix DNA-binding domain	129 - 194	IPR003316
domain	E2F transcription factor, CC-MB domain	206 - 306	IPR032198

Functions

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

3 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
RNA polymerase II transcription regulator complex	A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

9 GO annotations of molecular function

Name	Definition
cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by some RNA polymerase. The proximal promoter is in cis with and relatively close to the core promoter.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
protein dimerization activity	The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

8 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
intrinsic apoptotic signaling pathway by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered.
lens fiber cell apoptotic process	Any apoptotic process in a lens fiber cell. Lens fiber cells are elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye.
negative regulation of sprouting angiogenesis	Any process that stops, prevents or reduces the frequency, rate or extent of sprouting angiogenesis.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
transcription initiation at RNA polymerase II promoter	A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MLQGPRALAS	AAGQTPKVVP	AMSPTELWPS	GLSSPQLCPA	TATYYTPLYP	QTAPPAAAPG
70	80	90	100	110	120
TCLDATPHGP	EGQVVRCLPA	GRLPAKRKLD	LEGIGRPVVP	EFPTPKGKCI	RVDGLPSPKT
130	140	150	160	170	180
PKSPGEKTRY	DTSLGLLTKK	FIYLLSESED	GVLDLNWAAE	VLDVQKRRIY	DITNVLEGIQ
190	200	210	220	230	240
LIRKKAKNNI	QWVGRGMFED	PTRPGKQQQL	GQELKELMNT	EQALDQLIQS	CSLSFKHLTE
250	260	270	280	290	300
DKANKRLAYV	TYQDIRAVGN	FKEQTVIAVK	APPQTRLEVP	DRTEDNLQIY	LKSTQGPIEV
310	320	330	340	350	360
YLCPEEVQEP	DSPSEEPLPS	TSTLCPSPDS	AQPSSSTDPS	IMEPTASSVP	APAPTPQQAP
370	380	390	400	410	420
PPPSLVPLEA	TDSLLELPHP	LLQQTEDQFL	SPTLACSSPL	ISFSPSLDQD	DYLWGLEAGE
430
GISDLFDSYD	LGDLLIN