AiPD: Autoinhibited Protein Database

P29084

Gene name	GTF2E2 (TF2E2)
Protein name	Transcription initiation factor IIE subunit beta
Names	TFIIE-beta, General transcription factor IIE subunit 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2961
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-93 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-93 (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

39 structures for P29084

Entry ID	Method	Resolution	Chain	Position	Source
1D8J	NMR	-	A	66-146	PDB
1D8K	NMR	-	A	66-146	PDB
5GPY	X-ray	210 A	B	141-244	PDB
5IY6	EM	720 A	R	1-291	PDB
5IY7	EM	860 A	R	1-291	PDB
5IY8	EM	790 A	R	1-291	PDB
5IY9	EM	630 A	R	1-291	PDB
5IYA	EM	540 A	R	1-291	PDB
5IYB	EM	390 A	R	1-291	PDB
5IYC	EM	390 A	R	1-291	PDB
5IYD	EM	390 A	R	1-291	PDB
6O9L	EM	720 A	R	1-291	PDB
7EG9	EM	370 A	V	1-291	PDB
7EGA	EM	410 A	V	1-291	PDB
7EGB	EM	330 A	V	1-291	PDB
7EGC	EM	390 A	V	1-291	PDB
7ENA	EM	407 A	EB	1-291	PDB
7ENC	EM	413 A	EB	1-291	PDB
7LBM	EM	480 A	R	1-291	PDB
7NVR	EM	450 A	X	1-291	PDB
7NVS	EM	280 A	X	1-291	PDB
7NVT	EM	290 A	X	1-291	PDB
7NVU	EM	250 A	X	1-291	PDB
7NVY	EM	730 A	X	1-291	PDB
7NVZ	EM	720 A	X	1-291	PDB
7NW0	EM	660 A	X	1-291	PDB
8BVW	EM	400 A	X	1-291	PDB
8BYQ	EM	410 A	X	1-291	PDB
8GXQ	EM	504 A	EB	1-291	PDB
8GXS	EM	416 A	EB	1-291	PDB
8WAK	EM	547 A	V	1-291	PDB
8WAL	EM	852 A	V	1-291	PDB
8WAN	EM	607 A	V	1-291	PDB
8WAO	EM	640 A	V	1-291	PDB
8WAP	EM	585 A	V	1-291	PDB
8WAQ	EM	629 A	V	1-291	PDB
8WAR	EM	720 A	V	1-291	PDB
8WAS	EM	613 A	V	1-291	PDB
AF-P29084-F1	Predicted				AlphaFoldDB

204 variants for P29084

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV003166658 RCV001297111 CA4701109 rs141148292	25	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10576099 VAR_076893 rs875989846 RCV000211060	150	A>P	Trichothiodystrophy 6, nonphotosensitive TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000211077 rs875989847 VAR_076894 CA10576100	187	D>Y	Trichothiodystrophy 6, nonphotosensitive TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA4701120 rs367818718	2	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4701119 rs752353931	3	P>S		No	ClinGen ExAC gnomAD
CA4701118 rs752353931	3	P>T		No	ClinGen ExAC gnomAD
rs766224944 CA174442348	13	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4701114 rs766224944	13	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	14	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763006801 CA4701113	15	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA174442341 rs776927046	15	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4701112 rs750341340	20	P>A		No	ClinGen ExAC gnomAD
rs1301552428 CA370877574	21	V>A		No	ClinGen gnomAD
CA4701111 rs144991013	21	V>L		No	ClinGen ESP ExAC
CA4701110 rs761618380	22	V>A		No	ClinGen ExAC gnomAD
CA174442303 rs759602974	23	E>G		No	ClinGen TOPMed
CA4701108 rs191911969	25	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA174442283 rs191911969	25	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759605279 CA4701107	26	S>L		No	ClinGen ExAC gnomAD
CA370877473 rs1188374092	28	S>T		No	ClinGen gnomAD
rs774545618 CA4701106	31	S>L		No	ClinGen ExAC gnomAD
CA4701105 rs372189467	33	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331023288 CA370877403	33	S>P		No	ClinGen TOPMed
CA174442252 rs953524794	35	S>L		No	ClinGen TOPMed gnomAD
CA174442259 rs773425049	35	S>T		No	ClinGen TOPMed
RCV001315703 rs572162637	36	S>missing		No	ClinVar dbSNP
rs4620241 CA174442241	36	S>A		No	ClinGen Ensembl
TCGA novel	37	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187558758 CA370877318	37	K>R		No	ClinGen TOPMed
CA370877302 rs1586013896	38	K>E		No	ClinGen Ensembl
rs778170587 CA4701102	38	K>R		No	ClinGen ExAC gnomAD
CA370877265 rs1413140154	39	K>N		No	ClinGen TOPMed
TCGA novel	41	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4701100 rs770238678	41	T>R		No	ClinGen ExAC gnomAD
rs780963948 CA4701098	42	K>Q		No	ClinGen ExAC gnomAD
CA370877156 rs1563513580	45	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4701095 rs543436891	46	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4701096 rs543436891	46	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA4701094 rs139563701	47	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1467032947 CA370877141	47	G>R		No	ClinGen TOPMed
rs1164030994 CA370877125	48	S>L		No	ClinGen TOPMed gnomAD
rs771803770 CA4701093	48	S>P		No	ClinGen ExAC TOPMed gnomAD
CA370877126 rs1164030994	48	S>W		No	ClinGen TOPMed gnomAD
CA4701091 rs761565129	49	S>*		No	ClinGen ExAC TOPMed
CA370877117 rs761565129	49	S>L		No	ClinGen ExAC TOPMed
rs1306050009 CA370877105	50	G>D		No	ClinGen TOPMed
rs368009804 CA4701090	51	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	52	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370877074 rs1443949751	53	Q>E		No	ClinGen gnomAD
rs909336835 CA174442175	55	S>C		No	ClinGen TOPMed gnomAD
rs1238640146 CA370877030	55	S>P		No	ClinGen gnomAD
rs1490225393 CA370885620	56	D>E		No	ClinGen gnomAD
CA370885625 rs1372670414	56	D>G		No	ClinGen TOPMed
rs752479061 CA4701048	57	H>R		No	ClinGen ExAC TOPMed gnomAD
rs766622922 CA4701047	58	S>C		No	ClinGen ExAC gnomAD
rs758609060 CA4701046	58	S>N		No	ClinGen ExAC TOPMed gnomAD
rs995836553 CA174452685	59	N>S		No	ClinGen TOPMed
CA4701044 rs115460759	62	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370885457 rs1221291165	66	A>D		No	ClinGen gnomAD
CA174452681 rs879790610	66	A>S		No	ClinGen TOPMed
rs879790610 CA370885460	66	A>T		No	ClinGen TOPMed
rs754348956 CA4701042	67	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1299728093 CA370885431	68	S>P		No	ClinGen TOPMed gnomAD
rs913677259 CA174452675	71	S>C		No	ClinGen TOPMed gnomAD
rs966306118 CA174452670	72	G>R		No	ClinGen TOPMed
CA174452666 rs202060134	73	Y>C		No	ClinGen 1000Genomes
CA370885286 rs1383470487	76	G>V		No	ClinGen gnomAD
CA370885262 COSM3834572 rs1184814347	78	L>V	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs775773322 CA4701039	80	K>M		No	ClinGen ExAC TOPMed gnomAD
rs775773322 CA4701040	80	K>R		No	ClinGen ExAC TOPMed gnomAD
rs775773322 CA370885239	80	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1383823247 CA370885222	81	I>M		No	ClinGen TOPMed
CA4701038 rs772498106	81	I>S		No	ClinGen ExAC gnomAD
rs986411536 CA174452659	81	I>V		No	ClinGen TOPMed gnomAD
rs1480238531 CA370885153	85	M>R		No	ClinGen gnomAD
CA4701037 rs759040162	85	M>V		No	ClinGen ExAC gnomAD
rs774020566 CA4701036	86	K>Q		No	ClinGen ExAC gnomAD
rs533926333 CA4701013	88	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370881460 rs892994715	89	H>L		No	ClinGen TOPMed gnomAD
CA174448111 rs892994715	89	H>R		No	ClinGen TOPMed gnomAD
CA174448113 rs971896773	89	H>Y		No	ClinGen TOPMed
rs779271698 CA4701010	90	Q>R		No	ClinGen ExAC gnomAD
rs754124140 CA4701008	91	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1241236 rs1024658169 RCV001340310 CA174448103	91	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA4701007 RCV001296699 rs777646389	93	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel CA370881388 rs1585966569	94	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1220007935 CA370881378	95	H>Y		No	ClinGen TOPMed
CA370881302 rs1316970312	100	D>G		No	ClinGen TOPMed
CA4701004 rs114292437	100	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA370881201 rs1210100334	105	E>G		No	ClinGen TOPMed
CA4701001 rs766007320	108	H>L		No	ClinGen ExAC gnomAD
TCGA novel	108	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4701000 rs762536890	110	D>G		No	ClinGen ExAC gnomAD
CA370881131 rs1290266796	110	D>N		No	ClinGen gnomAD
CA370881126 rs1290266796	110	D>Y		No	ClinGen gnomAD
CA4700999 rs772924568	115	Q>P		No	ClinGen ExAC gnomAD
rs1449671508 CA370881015	118	W>G		No	ClinGen TOPMed
CA370880963 rs1220474490	120	M>I		No	ClinGen TOPMed
CA4700997 rs555065014	120	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA370880959 rs1263902806	121	T>A		No	ClinGen TOPMed
CA4700996 COSM1099108 rs776412409	121	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749996086 CA4700978	124	L>F		No	ClinGen ExAC gnomAD
CA4700977 rs764989549	126	N>S		No	ClinGen ExAC TOPMed gnomAD
CA174447632 rs956064278	127	N>S		No	ClinGen TOPMed gnomAD
rs1320180200 COSM1456608 CA370879768	129	K>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4700975 rs776261279	130	I>M		No	ClinGen ExAC gnomAD
TCGA novel	130	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4700974 rs763708188	132	V>I		No	ClinGen ExAC TOPMed gnomAD
VAR_052281 RCV001316956 CA4700973 rs2229299	133	I>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1172858224 CA370879711	133	I>V		No	ClinGen gnomAD
rs775599789 CA4700972	135	G>R		No	ClinGen ExAC gnomAD
rs771941105 CA4700971	138	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370879545 rs368609280	144	N>I		No	ClinGen ESP TOPMed
CA174447623 rs368609280	144	N>S		No	ClinGen ESP TOPMed
rs369822113 CA370879536	145	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001326429 rs369822113 CA4700969	145	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs868665063 CA174447619	147	D>Y		No	ClinGen Ensembl
CA370879446 rs1279803659	150	A>G		No	ClinGen gnomAD
COSM1193596 rs747477737 CA4700964	158	H>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4700965 rs755060053	158	H>Y		No	ClinGen ExAC gnomAD
CA4700962 rs375279264	162	G>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	165	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	167	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470806625 CA370879193	170	D>N		No	ClinGen gnomAD
CA370879070 rs1421012068	177	N>H		No	ClinGen gnomAD
CA4700958 rs753435715	177	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1563487218 CA370879029	178	S>F		No	ClinGen Ensembl
rs1183381113 CA370878976	182	V>I		No	ClinGen TOPMed gnomAD
rs760282859 CA4700956 COSM1099105	183	K>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs2978277 RCV001346806	183	K>M		No	ClinVar dbSNP
CA4700955 rs2978277 VAR_039003 RCV000888459	183	K>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1357122776 CA370878301	184	A>G		No	ClinGen gnomAD
CA4700923 rs775606486	189	I>L		No	ClinGen ExAC gnomAD
rs1440885920 CA370878181	192	V>I		No	ClinGen gnomAD
rs772048330 CA4700922	193	N>S		No	ClinGen ExAC
rs749607324 COSM1673830 CA174446409	194	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs527328234 COSM605373 CA4700921	194	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA370878121 rs1423308029	195	P>R		No	ClinGen gnomAD
CA370878129 rs1404473383	195	P>S		No	ClinGen TOPMed
CA4700919 COSM3779181 rs780571452	196	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4700918 rs749706627	197	K>E		No	ClinGen ExAC gnomAD
rs146320824 CA4700917	197	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	199	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370878062 rs1563484223	199	K>Q		No	ClinGen Ensembl
rs1176833728 CA370878046	200	I>L		No	ClinGen TOPMed gnomAD
rs1176833728 CA370878043	200	I>V		No	ClinGen TOPMed gnomAD
CA370877940 rs1271160778	203	F>L		No	ClinGen TOPMed gnomAD
rs138879441 CA4700916	204	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370877883 rs1489849157	205	D>G		No	ClinGen gnomAD
rs747813242 CA4700915	206	K>R		No	ClinGen ExAC gnomAD
CA370877824 rs1414233558	207	S>G		No	ClinGen TOPMed gnomAD
CA4700914 rs780689146	208	C>S		No	ClinGen ExAC gnomAD
CA4700913 rs754481192	208	C>W		No	ClinGen ExAC gnomAD
rs747764482 CA4700895	215	E>G		No	ClinGen ExAC gnomAD
rs1380066288 CA370877639	215	E>Q		No	ClinGen gnomAD
rs936676754 CA174433918	216	F>L		No	ClinGen TOPMed
CA4700893 rs754492883	220	W>*		No	ClinGen ExAC
rs866292344 CA174433905	221	R>K		No	ClinGen Ensembl
CA4700892 rs746541899	224	T>A		No	ClinGen ExAC gnomAD
CA370875137 rs1469413175	224	T>S		No	ClinGen gnomAD
rs1373700874 CA370875116	227	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4700891 rs780037889	228	M>T		No	ClinGen ExAC gnomAD
rs1275069225 CA370875106	229	D>H		No	ClinGen TOPMed
CA4700889 rs764969255	230	E>*		No	ClinGen ExAC gnomAD
CA4700888 rs764969255	230	E>K		No	ClinGen ExAC gnomAD
CA4700887 rs757065013	230	E>V		No	ClinGen ExAC gnomAD
rs752941531 CA4700886	233	I>T		No	ClinGen ExAC gnomAD
CA174433874 rs4923	234	E>K		No	ClinGen Ensembl
CA370875052 rs1244666467	236	Y>F		No	ClinGen gnomAD
rs1343778122 CA370875040	238	K>R		No	ClinGen gnomAD
TCGA novel	239	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748268212 CA4700884	239	R>Q		No	ClinGen ExAC gnomAD
rs945410284 CA174433862	240	Q>E		No	ClinGen TOPMed gnomAD
CA4700883 rs370220215	244	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4700882 rs375607570	245	M>L		No	ClinGen ESP ExAC gnomAD
rs773888848 CA174433851	250	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773888848 CA4700880	250	P>R		No	ClinGen ExAC TOPMed gnomAD
CA370874887 rs1303776324	254	A>D		No	ClinGen gnomAD
CA370874888 rs1303776324	254	A>G		No	ClinGen gnomAD
rs1232942032 CA370874881	255	P>R		No	ClinGen TOPMed gnomAD
CA4700858 rs776919336	256	I>V		No	ClinGen ExAC gnomAD
rs1158011803 CA370874847	260	K>R		No	ClinGen TOPMed
CA4700857 rs769080148	262	P>T		No	ClinGen ExAC gnomAD
CA4700856 rs760180975	263	A>V		No	ClinGen ExAC gnomAD
rs1585926651 CA918231683	264	S>*		No	ClinGen Ensembl
CA370874813 rs1364054518	265	Q>H		No	ClinGen gnomAD
rs571887654 CA4700855	268	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA370874789 rs1416848056	269	R>C		No	ClinGen TOPMed gnomAD
rs150253885 CA4700853	269	R>H	Variant assessed as Somatic; 0.0004157 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs150253885 CA370874787	269	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4700852 rs778817965	272	T>S		No	ClinGen ExAC gnomAD
rs770909330 CA4700851	273	H>N		No	ClinGen ExAC gnomAD
COSM3432340 rs1209670862 CA370874748	275	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4700849 rs777361051	278	A>S		No	ClinGen ExAC gnomAD
rs755966155 CA4700848	280	V>A		No	ClinGen ExAC gnomAD
CA4700847 rs141953164	282	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370874703 rs141953164	282	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4700846 rs758525253	285	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758525253 CA4700845	285	S>F		No	ClinGen ExAC TOPMed gnomAD
rs201933370 CA174433060	286	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs932072354 CA174433044	287	I>V		No	ClinGen TOPMed gnomAD
rs1347377549 CA370874663	288	T>S		No	ClinGen TOPMed gnomAD
rs751070215 CA4700843	289	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	291	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with P29084

[MIM: 616943]: Trichothiodystrophy 6, non-photosensitive (TTD6)

A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive. {ECO:0000269|PubMed:26996949}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive. {ECO:0000269|PubMed:26996949}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P29084

Type	Name	Position	InterPro Accession
domain	Transcription factor TFIIE beta subunit, DNA-binding domain	66 - 146	IPR003166
domain	TFA2, Winged helix domain 2	146 - 204	IPR040501

Functions

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

5 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.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
transcription factor TFIID complex	A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters.
transcription factor TFIIE complex	A transcription factor which in humans consists of a complex of two alpha and two beta chains. Recruits TFIIH to the initiation complex and helps activate both RNA polymerase II and TFIIH.

3 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA polymerase II general transcription initiation factor activity	A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase II. The general transcription factors for RNA polymerase II include TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBP). In most species, RNA polymerase II transcribes all messenger RNAs (mRNAs), most untranslated regulatory RNAs, the majority of the snoRNAs, four of the five snRNAs (U1, U2, U4, and U5), and other small noncoding RNAs. For some small RNAs there is variability between species as to whether it is transcribed by RNA polymerase II or RNA polymerase III. However there are also rare exceptions, such as Trypanosoma brucei, where RNA polymerase I transcribes certain mRNAs in addition to its normal role in rRNA transcription.

2 GO annotations of biological process

Name	Definition
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P36145	TFA2	Transcription initiation factor IIE subunit beta	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR

10	20	30	40	50	60
MDPSLLRERE	LFKKRALSTP	VVEKRSASSE	SSSSSSKKKK	TKVEHGGSSG	SKQNSDHSNG
70	80	90	100	110	120
SFNLKALSGS	SGYKFGVLAK	IVNYMKTRHQ	RGDTHPLTLD	EILDETQHLD	IGLKQKQWLM
130	140	150	160	170	180
TEALVNNPKI	EVIDGKYAFK	PKYNVRDKKA	LLRLLDQHDQ	RGLGGILLED	IEEALPNSQK
190	200	210	220	230	240
AVKALGDQIL	FVNRPDKKKI	LFFNDKSCQF	SVDEEFQKLW	RSVTVDSMDE	EKIEEYLKRQ
250	260	270	280	290
GISSMQESGP	KKVAPIQRRK	KPASQKKRRF	KTHNEHLAGV	LKDYSDITSS	K