AiPD: Autoinhibited Protein Database

Q03933

Gene name	HSF2 (HSTF2)
Protein name	Heat shock factor protein 2
Names	HSF 2, Heat shock transcription factor 2, HSTF 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3298
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

72-163 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

72-163 (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

6 structures for Q03933

Entry ID	Method	Resolution	Chain	Position	Source
5D8K	X-ray	173 A	B	8-115	PDB
5D8L	X-ray	207 A	B/D/F/H	8-115	PDB
5HDK	X-ray	132 A	A/B/C/D	7-112	PDB
7DCI	X-ray	170 A	A	7-110	PDB
7DCU	X-ray	175 A	A/B/C	7-112	PDB
AF-Q03933-F1	Predicted				AlphaFoldDB

296 variants for Q03933

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000043660 CA3982297 rs770437959	502	R>H	Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA365481039 rs1466845800	2	K>R		No	ClinGen gnomAD
rs770227286 CA3981867	3	Q>H		No	ClinGen ExAC gnomAD
rs1473245781 CA365481063	5	S>W		No	ClinGen TOPMed
CA365481100 rs1253109583	11	L>F		No	ClinGen TOPMed
rs1417913874 CA365481120	14	L>M		No	ClinGen gnomAD
rs1030459340 CA147052740	15	W>R		No	ClinGen TOPMed gnomAD
rs1438943826 CA365481155	19	E>G		No	ClinGen gnomAD
rs1327269278 CA365481179	22	H>Q		No	ClinGen gnomAD
CA3981873 rs372027374	22	H>Y		No	ClinGen ESP ExAC gnomAD
CA365481195 rs1268495973	25	E>Q		No	ClinGen gnomAD
CA365481208 rs760194482	26	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1229257796 CA365481218	28	T>A		No	ClinGen TOPMed
rs1047392130 CA147052744	28	T>I		No	ClinGen TOPMed
CA147052747 rs891061356	30	S>N		No	ClinGen gnomAD
CA365481245 rs753721001	31	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs139599852 CA3981905	34	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	41	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276019037 CA365481332	42	Q>E		No	ClinGen TOPMed gnomAD
rs1320151362 CA365481339	43	R>G		No	ClinGen TOPMed
CA365481341 rs1278952996 COSM1072795	43	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	51	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365481434 rs1317106193	56	N>D		No	ClinGen gnomAD
CA365481437 rs1334991954	56	N>S		No	ClinGen gnomAD
rs1236408754 CA365481458	59	A>T		No	ClinGen gnomAD
rs1336485632 CA365481464	60	S>G		No	ClinGen TOPMed
CA3981910 rs754441095	62	V>G		No	ClinGen ExAC gnomAD
TCGA novel	70	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760953128 CA3981925	71	R>H		No	ClinGen ExAC gnomAD
rs753999498 CA3981927	75	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3981928 rs757336970	76	I>V		No	ClinGen ExAC gnomAD
CA3981930 rs750931926	78	S>C		No	ClinGen ExAC gnomAD
rs1194031490 CA365481623	81	V>G		No	ClinGen gnomAD
rs780439628 CA3981932	81	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754648493 CA3981934	87	G>S		No	ClinGen ExAC gnomAD
CA147058138 rs140241457	89	V>A		No	ClinGen ESP TOPMed
rs780785382 CA3981935	89	V>I		No	ClinGen ExAC gnomAD
rs1395029195 CA365481696	92	Q>*		No	ClinGen gnomAD
CA365481707 rs1460562224	93	H>R		No	ClinGen gnomAD
rs150919210 CA3981937	101	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs150919210 CA3981938	101	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1301693044 CA365481804	106	N>S		No	ClinGen gnomAD
rs1326348563 CA365481808	107	I>V		No	ClinGen gnomAD
rs1292155184 CA365481833	110	K>R		No	ClinGen TOPMed
rs537467284 CA3981957	111	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745668853 CA3981959	113	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3981960 rs144007130 COSM275499	122	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs777061061 CA3981961	122	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1009534860 CA147058523	125	D>Y		No	ClinGen gnomAD
CA365481984 rs765283128	126	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765283128 CA3981963	126	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3981964 rs773368306	127	T>R		No	ClinGen ExAC gnomAD
rs1582611200 CA365482011	128	K>R		No	ClinGen Ensembl
CA365482035 rs923750421	130	I>L		No	ClinGen TOPMed gnomAD
CA147058534 rs923750421	130	I>V		No	ClinGen TOPMed gnomAD
CA365482064 rs1339036193	132	S>N		No	ClinGen TOPMed
CA365482069 rs372711104	132	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199725766 CA147058539	134	Q>R		No	ClinGen Ensembl
CA365482097 rs1454185025	135	K>Q		No	ClinGen TOPMed
CA365482135 rs1406445849	137	Q>H		No	ClinGen TOPMed
CA147058542 rs900131324	138	I>L		No	ClinGen gnomAD
CA365482240 rs1312962735	145	S>F		No	ClinGen gnomAD
CA365482242 rs1330070434	146	R>G		No	ClinGen TOPMed
TCGA novel	146	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414777749 CA365482276	148	S>F		No	ClinGen gnomAD
CA147058547 rs942074574	149	E>*		No	ClinGen Ensembl
CA3981991 rs372841188	153	E>D		No	ClinGen ESP ExAC gnomAD
rs753091494 CA3981992	154	N>K		No	ClinGen ExAC gnomAD
CA147060144 rs945369516	160	E>A		No	ClinGen TOPMed
CA147060148 rs1042488220	161	V>A		No	ClinGen TOPMed
CA365482528 rs1476727320	163	E>A		No	ClinGen TOPMed gnomAD
CA365482532 rs1187791882	163	E>D		No	ClinGen gnomAD
rs753417407 CA3981995	165	R>Q		No	ClinGen ExAC gnomAD
rs1290359876 CA365482559	168	H>D		No	ClinGen TOPMed gnomAD
CA365482610 rs1055270153	175	I>F		No	ClinGen TOPMed gnomAD
CA147060173 rs1055270153	175	I>V		No	ClinGen TOPMed gnomAD
CA3981996 rs756860985	176	R>*		No	ClinGen ExAC gnomAD
CA3981997 rs778537452	176	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1189079824 CA365483534	182	I>T		No	ClinGen gnomAD
rs1368323978 CA365483539	183	V>F		No	ClinGen gnomAD
CA365483547 rs1259680918	184	T>K		No	ClinGen TOPMed
rs1210848988 CA365483549	185	L>M		No	ClinGen TOPMed
CA147062256 rs968392969	187	Q>R		No	ClinGen gnomAD
CA365483583 rs751441674	189	N>K		No	ClinGen ExAC gnomAD
CA3982029 rs367707485	191	L>F		No	ClinGen ESP ExAC TOPMed
rs1409013858 CA365483598	192	V>M		No	ClinGen gnomAD
rs780825177 CA3982030	193	S>N		No	ClinGen ExAC gnomAD
CA3982032 rs555186556	196	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	198	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA147062729 rs866048045	203	N>K		No	ClinGen Ensembl
rs1444212202 CA365483695	205	N>H		No	ClinGen gnomAD
rs146447456 CA365483697	205	N>I		No	ClinGen ESP TOPMed
rs146447456 CA147062731	205	N>S		No	ClinGen ESP TOPMed
CA3982052 rs755845741	207	A>V		No	ClinGen ExAC gnomAD
rs746083219 CA3982054	208	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs768068140 CA147062737	208	Q>R		No	ClinGen gnomAD
TCGA novel	209	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	210	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347878618 CA365483742	212	L>V		No	ClinGen gnomAD
rs779977078 CA3982056	214	Q>H		No	ClinGen ExAC gnomAD
rs758512392 CA3982055	214	Q>R		No	ClinGen ExAC gnomAD
rs1562203557 CA365483772	216	I>T		No	ClinGen Ensembl
CA365483785 rs1274214043	218	K>R		No	ClinGen gnomAD
CA3982058 rs769076386	219	E>D		No	ClinGen ExAC gnomAD
CA3982059 rs777132986	221	T>A		No	ClinGen ExAC
CA365483804 rs1254939592	221	T>N		No	ClinGen gnomAD
rs199557986 CA3982060	222	D>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs770273049 CA3982061	223	N>D		No	ClinGen ExAC gnomAD
rs773068665 CA3982062	223	N>I		No	ClinGen ExAC gnomAD
rs1234343578 CA365483832	225	H>R		No	ClinGen TOPMed
rs1394690987 CA365483864	228	V>I		No	ClinGen TOPMed gnomAD
CA3982077 rs751595849	229	P>A		No	ClinGen ExAC gnomAD
CA365483895 rs1291279709	232	R>K		No	ClinGen gnomAD
rs953739070 CA147063902	234	E>*		No	ClinGen Ensembl
rs1299289284 CA365483913	235	G>D		No	ClinGen gnomAD
CA3982078 rs755031154	235	G>S		No	ClinGen ExAC gnomAD
rs1299289284 CA365483914	235	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA365483916 rs1456784443	236	L>I		No	ClinGen gnomAD
rs781611364 CA3982079	240	E>K		No	ClinGen ExAC gnomAD
CA365483953 rs1562204266	241	R>K		No	ClinGen Ensembl
rs1217125141 CA365483974	244	D>A		No	ClinGen gnomAD
TCGA novel	245	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA147063906 rs370123927	246	I>V		No	ClinGen ESP TOPMed gnomAD
CA3982080 rs187608288	247	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778300789 CA3982082	251	V>I		No	ClinGen ExAC gnomAD
rs939955501 CA147063932	252	T>I		No	ClinGen TOPMed
rs749626990 CA3982083	253	D>H		No	ClinGen ExAC gnomAD
rs749626990 CA147063938	253	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA365484038 rs1262299394	254	D>N		No	ClinGen gnomAD
rs375339129 CA3982084	256	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA365484059 rs1418385695	257	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs190721066 CA147063940	257	D>V		No	ClinGen 1000Genomes TOPMed
TCGA novel	263	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3982085 rs200135653	263	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3982086 rs372104389	264	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771607315 CA3982087	265	P>S		No	ClinGen ExAC
CA365484136 rs1157544404	268	N>T		No	ClinGen gnomAD
TCGA novel	269	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140951493 CA147063974	270	D>G		No	ClinGen ESP
rs1411265059 CA365484158	271	V>D		No	ClinGen gnomAD
CA147063982 rs933377374	271	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs368809093 CA3982088	272	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365484186 rs1380412654	275	P>L		No	ClinGen gnomAD
CA365484196 rs1310800293	277	N>S		No	ClinGen gnomAD
CA365484218 rs1177681940	278	C>F		No	ClinGen gnomAD
rs775005039 COSM1187147 CA3982107	280	Q>P	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1293852380 CA365484241	281	Y>F		No	ClinGen TOPMed
rs267600788 CA3982108	282	P>A		No	ClinGen ExAC gnomAD
rs267600788 CA147064492	282	P>S		No	ClinGen ExAC gnomAD
CA365484732 rs1281822804	284	I>V		No	ClinGen TOPMed
CA3982110 rs145103558	287	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1347543515 CA365484800	289	D>G		No	ClinGen TOPMed
rs1403170920 CA365484795	289	D>H		No	ClinGen TOPMed
rs765081372 CA3982112	291	N>D		No	ClinGen ExAC gnomAD
rs774480168 CA3982113	291	N>S		No	ClinGen ExAC TOPMed gnomAD
rs759785469 CA3982114	292	E>D		No	ClinGen ExAC
rs1398412573 CA365484854	293	D>G		No	ClinGen gnomAD
rs1282501997 CA365484864	294	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1399877397 CA365484885	295	Y>C		No	ClinGen TOPMed
CA3982115 rs767805539	296	A>T		No	ClinGen ExAC gnomAD
CA365484905 rs1343977853	297	P>S		No	ClinGen TOPMed
rs1234154847 CA365484976	304	Q>K		No	ClinGen gnomAD
CA365484979 rs1217446582	304	Q>R		No	ClinGen TOPMed gnomAD
rs1318276091 CA365484990 CA365484991	305	N>K		No	ClinGen TOPMed gnomAD
rs1297433524 CA365484988	305	N>S		No	ClinGen TOPMed gnomAD
rs764752770 CA3982118	310	E>Q		No	ClinGen ExAC gnomAD
CA365485030 rs754364398	311	S>C		No	ClinGen ExAC gnomAD
CA3982119 rs754364398	311	S>F		No	ClinGen ExAC gnomAD
rs754364398 CA365485029	311	S>Y		No	ClinGen ExAC gnomAD
rs757601713 CA3982120	313	S>N		No	ClinGen ExAC gnomAD
CA147064548 rs577591137	316	S>C		No	ClinGen 1000Genomes
rs779312725 CA3982121	318	G>A		No	ClinGen ExAC gnomAD
rs372249082 CA3982122	320	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA365485098 rs1199539663	322	L>F		No	ClinGen TOPMed
CA3982123 rs758102671	323	M>L		No	ClinGen ExAC gnomAD
rs1316486857 CA365485110	324	S>T		No	ClinGen gnomAD
rs746535519 CA3982125	327	V>D		No	ClinGen ExAC gnomAD
CA147064580 rs961260280	330	N>S		No	ClinGen TOPMed gnomAD
CA365485159 rs1217611627	331	G>A		No	ClinGen TOPMed
CA3982127 rs776620124	333	S>T		No	ClinGen ExAC gnomAD
CA3982128 rs748090198	334	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1434435971 CA365485172	334	S>R		No	ClinGen gnomAD
CA3982129 rs769528436	336	T>S		No	ClinGen ExAC gnomAD
CA147064609 rs781236226	339	D>E		No	ClinGen Ensembl
rs1276130364 CA365485204	339	D>H		No	ClinGen gnomAD
rs773087804 CA3982130	339	D>V		No	ClinGen ExAC gnomAD
CA365485222 rs1437900385	342	T>A		No	ClinGen gnomAD
CA147064638 rs986142448	342	T>N		No	ClinGen Ensembl
rs1221962941 CA365485229	343	M>K		No	ClinGen TOPMed
rs775837251 CA3982133	343	M>V		No	ClinGen ExAC gnomAD
rs760903949 CA3982134	346	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1026876790 CA147064646	347	I>M		No	ClinGen TOPMed gnomAD
CA365485265 rs1193392557	348	L>S		No	ClinGen gnomAD
rs764237873 CA3982135	350	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1261533652 CA365485281	350	D>G		No	ClinGen gnomAD
CA365485330 rs1582618437	357	K>R		No	ClinGen Ensembl
rs765787227 CA3982162	358	V>I		No	ClinGen ExAC gnomAD
CA3982163 rs750883318	365	D>E		No	ClinGen ExAC gnomAD
CA365485393 rs1338321007	365	D>N		No	ClinGen gnomAD
CA365485493 rs1375455830	378	L>I		No	ClinGen gnomAD
CA3982166 rs751267001	380	G>E		No	ClinGen ExAC gnomAD
rs754652291 CA3982167	381	R>K		No	ClinGen ExAC gnomAD
CA365485576 rs1440876158	385	I>V		No	ClinGen gnomAD
CA3982169 rs752261150	386	D>G		No	ClinGen ExAC TOPMed gnomAD
CA365485589 rs1460569908	386	D>H		No	ClinGen TOPMed
CA147065365 rs376303771	387	P>S		No	ClinGen Ensembl
CA365485611 rs755564080	388	D>H		No	ClinGen ExAC TOPMed gnomAD
rs755564080 CA3982170	388	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	389	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA147065385 COSM3702881 rs966728696	392	D>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA365486133 rs1171145633	395	T>A		No	ClinGen TOPMed gnomAD
rs753347157 CA3982189	397	S>Y		No	ClinGen ExAC gnomAD
CA365486156 rs1294740750	398	V>G		No	ClinGen gnomAD
CA365486161 rs1385751975	399	Q>R		No	ClinGen gnomAD
rs778926146 CA3982191	400	M>I		No	ClinGen ExAC TOPMed gnomAD
CA365486168 rs1338883064	400	M>T		No	ClinGen TOPMed gnomAD
rs377323411 CA147068906	404	D>Y		No	ClinGen ESP TOPMed gnomAD
rs745672638 CA3982192	405	Y>C		No	ClinGen ExAC gnomAD
rs1218481929 CA365486202	405	Y>D		No	ClinGen gnomAD
rs535232531 CA3982193	407	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278532264 CA365486226	408	N>S		No	ClinGen TOPMed
rs143822056 CA3982195	410	K>T		No	ClinGen ESP ExAC gnomAD
rs1422938314 CA365486642	411	S>F		No	ClinGen gnomAD
rs1424522162 CA365486643	412	E>K		No	ClinGen gnomAD
rs1191297177 CA365486657	413	N>K		No	ClinGen Ensembl
CA365486670 rs1381666689	415	G>E		No	ClinGen gnomAD
rs775746689 CA3982233	416	L>I		No	ClinGen ExAC gnomAD
rs761032600 CA3982234	417	E>Q		No	ClinGen ExAC gnomAD
CA3982235 rs147253664	418	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452006691 CA365486696	419	T>I		No	ClinGen gnomAD
rs942585001 CA147072092	421	N>K		No	ClinGen TOPMed gnomAD
rs1241766220 CA365486724	423	V>A		No	ClinGen TOPMed
rs948237876 CA147072097	424	V>A		No	ClinGen TOPMed gnomAD
rs750436325 CA3982239	427	V>I		No	ClinGen ExAC gnomAD
rs202207842 CA3982240	428	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs751319370 CA3982242	431	G>R		No	ClinGen ExAC gnomAD
CA365486785 rs1305475573	433	K>*		No	ClinGen TOPMed
TCGA novel	433	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778031427 CA3982244	438	P>R		No	ClinGen ExAC TOPMed
CA365486903 rs1193382712	440	K>R		No	ClinGen gnomAD
CA365486955 rs1281852872	444	Q>R		No	ClinGen gnomAD
CA3982264 rs529752632	446	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3982266 rs143153775	447	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	447	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426029257 CA365487024	450	L>F		No	ClinGen gnomAD
rs1047312008 CA147072456	451	L>V		No	ClinGen TOPMed gnomAD
rs747520083 CA3982272	455	D>A		No	ClinGen ExAC gnomAD
CA365487089 rs747520083	455	D>G		No	ClinGen ExAC gnomAD
rs780492445 CA3982271	455	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA365487119 rs1176337443	457	N>K		No	ClinGen TOPMed
CA3982273 rs769193559	458	P>L		No	ClinGen ExAC gnomAD
CA3982274 rs143986149 COSM1581040	461	S>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA365487175 rs1448567132	463	E>K		No	ClinGen gnomAD
rs1431927838 CA365487192	464	Q>*		No	ClinGen TOPMed
rs769578136 CA3982276	464	Q>H		No	ClinGen ExAC gnomAD
CA3982275 rs748486216	464	Q>R		No	ClinGen ExAC gnomAD
rs772866273 CA147072608	465	A>E		No	ClinGen ExAC TOPMed gnomAD
rs772866273 CA3982277	465	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1562207666 CA365487218	466	S>N		No	ClinGen Ensembl
CA3982279 rs770440322	466	S>R		No	ClinGen ExAC gnomAD
CA147072636 rs1056541776	467	T>A		No	ClinGen Ensembl
CA3982280 rs774201763	467	T>R		No	ClinGen ExAC gnomAD
CA3982282 rs767400537	468	T>A		No	ClinGen ExAC
rs563139603 CA3982283	470	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3982285 rs367882844	472	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377707069 CA3982286	472	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA365487276 rs367882844	472	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA365487316 rs1264830800	475	S>P		No	ClinGen TOPMed
rs1339063281 CA365487374	480	P>A		No	ClinGen TOPMed
rs200304817 CA3982287	481	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	481	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs994399288 CA147072679	483	V>A		No	ClinGen Ensembl
CA3982288 rs758448374	484	D>V		No	ClinGen ExAC gnomAD
rs1378572260 CA365487465	487	L>R		No	ClinGen gnomAD
rs781738612 CA3982292	488	D>G		No	ClinGen ExAC gnomAD
rs142200038 CA3982291	488	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3982293 rs748541263	489	S>G		No	ClinGen ExAC gnomAD
CA365487548 rs1451156506	494	E>K		No	ClinGen TOPMed
rs374804289 CA147072698	495	P>S		No	ClinGen ESP gnomAD
CA365487605 rs770437959	502	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	504	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488798770 CA365487638	507	T>I		No	ClinGen gnomAD
CA365487652 rs1418280127	509	A>V		No	ClinGen TOPMed
rs775392024 CA3982301	512	S>R		No	ClinGen ExAC gnomAD
CA3982303 rs760530809	516	L>Q		No	ClinGen ExAC gnomAD
CA365487699 rs1160347653	517	F>L		No	ClinGen gnomAD
CA147072816 rs964142252	519	L>V		No	ClinGen Ensembl
TCGA novel	521	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365487800 rs1379878609	531	M>I		No	ClinGen gnomAD
rs766473259 CA365487796	531	M>L		No	ClinGen ExAC gnomAD
rs1283063446 CA365487798	531	M>T		No	ClinGen gnomAD
rs766473259 CA3982307	531	M>V		No	ClinGen ExAC gnomAD
CA365487805 rs1241723554	532	P>S		No	ClinGen gnomAD
rs751696389 CA3982308	533	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3982309 rs143986686	534	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3982310 rs373853508	535	D>N		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q03933

2 regional properties for Q03933

Type	Name	Position	InterPro Accession
domain	Heat shock factor (HSF)-type, DNA-binding	6 - 110	IPR000232
domain	Vertebrate heat shock transcription factor, C-terminal domain	230 - 501	IPR010542

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Cytoplasmic during normal growth and moves to the nucleus upon activation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

8 GO annotations of molecular function

Name	Definition
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.
identical protein binding	Binding to an identical protein or proteins.
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.
RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	Binding to an RNA polymerase II intronic DNA sequence that regulates the transcription of the transcript it is contained within.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
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.

3 GO annotations of biological process

Name	Definition
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 transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MKQSSNVPAF	LSKLWTLVEE	THTNEFITWS	QNGQSFLVLD	EQRFAKEILP	KYFKHNNMAS
70	80	90	100	110	120
FVRQLNMYGF	RKVVHIDSGI	VKQERDGPVE	FQHPYFKQGQ	DDLLENIKRK	VSSSKPEENK
130	140	150	160	170	180
IRQEDLTKII	SSAQKVQIKQ	ETIESRLSEL	KSENESLWKE	VSELRAKHAQ	QQQVIRKIVQ
190	200	210	220	230	240
FIVTLVQNNQ	LVSLKRKRPL	LLNTNGAQKK	NLFQHIVKEP	TDNHHHKVPH	SRTEGLKPRE
250	260	270	280	290	300
RISDDIIIYD	VTDDNADEEN	IPVIPETNED	VISDPSNCSQ	YPDIVIVEDD	NEDEYAPVIQ
310	320	330	340	350	360
SGEQNEPARE	SLSSGSDGSS	PLMSSAVQLN	GSSSLTSEDP	VTMMDSILND	NINLLGKVEL
370	380	390	400	410	420
LDYLDSIDCS	LEDFQAMLSG	RQFSIDPDLL	VDLFTSSVQM	NPTDYINNTK	SENKGLETTK
430	440	450	460	470	480
NNVVQPVSEE	GRKSKSKPDK	QLIQYTAFPL	LAFLDGNPAS	SVEQASTTAS	SEVLSSVDKP
490	500	510	520	530
IEVDELLDSS	LDPEPTQSKL	VRLEPLTEAE	ASEATLFYLC	ELAPAPLDSD	MPLLDS