Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6874
Gene name	TATA-box binding protein associated factor 4
Gene symbol	TAF4
Synonyms (NCBI Gene)	MRD73TAF(II)130TAF(II)135TAF2CTAF2C1TAF4ATAFII-130TAFII-135TAFII130TAFII135
Chromosome	20
Chromosome location	20q13.33
Summary	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly,

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miRTarBase ID	miRNA	Experiments	Reference
MIRT031295	hsa-miR-19b-3p	Sequencing	20371350
MIRT048812	hsa-miR-93-5p	CLASH	23622248
MIRT047763	hsa-miR-7-5p	CLASH	23622248
MIRT726395	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031295	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1409350	hsa-miR-1207-5p	CLIP-seq
MIRT1409351	hsa-miR-1234	CLIP-seq
MIRT1409352	hsa-miR-125a-3p	CLIP-seq
MIRT1409353	hsa-miR-1266	CLIP-seq
MIRT1409354	hsa-miR-1271	CLIP-seq
MIRT1409355	hsa-miR-1276	CLIP-seq
MIRT1409356	hsa-miR-128	CLIP-seq
MIRT1409357	hsa-miR-130a	CLIP-seq
MIRT1409358	hsa-miR-130b	CLIP-seq
MIRT1409359	hsa-miR-132	CLIP-seq
MIRT1409360	hsa-miR-135a	CLIP-seq
MIRT1409361	hsa-miR-135b	CLIP-seq
MIRT1409362	hsa-miR-148a	CLIP-seq
MIRT1409363	hsa-miR-148b	CLIP-seq
MIRT1409364	hsa-miR-152	CLIP-seq
MIRT1409365	hsa-miR-181a	CLIP-seq
MIRT1409366	hsa-miR-181b	CLIP-seq
MIRT1409367	hsa-miR-181c	CLIP-seq
MIRT1409368	hsa-miR-181d	CLIP-seq
MIRT1409369	hsa-miR-182	CLIP-seq
MIRT1409370	hsa-miR-194	CLIP-seq
MIRT1409371	hsa-miR-19a	CLIP-seq
MIRT1409372	hsa-miR-19b	CLIP-seq
MIRT1409373	hsa-miR-200b	CLIP-seq
MIRT1409374	hsa-miR-200c	CLIP-seq
MIRT1409375	hsa-miR-212	CLIP-seq
MIRT1409376	hsa-miR-219-1-3p	CLIP-seq
MIRT1409377	hsa-miR-301a	CLIP-seq
MIRT1409378	hsa-miR-301b	CLIP-seq
MIRT1409379	hsa-miR-3160-3p	CLIP-seq
MIRT1409380	hsa-miR-3161	CLIP-seq
MIRT1409381	hsa-miR-3163	CLIP-seq
MIRT1409382	hsa-miR-342-5p	CLIP-seq
MIRT1409383	hsa-miR-3616-3p	CLIP-seq
MIRT1409384	hsa-miR-3664-3p	CLIP-seq
MIRT1409385	hsa-miR-3666	CLIP-seq
MIRT1409386	hsa-miR-377	CLIP-seq
MIRT1409387	hsa-miR-378g	CLIP-seq
MIRT1409388	hsa-miR-383	CLIP-seq
MIRT1409389	hsa-miR-3921	CLIP-seq
MIRT1409390	hsa-miR-3934	CLIP-seq
MIRT1409391	hsa-miR-4262	CLIP-seq
MIRT1409392	hsa-miR-4277	CLIP-seq
MIRT1409393	hsa-miR-4282	CLIP-seq
MIRT1409394	hsa-miR-429	CLIP-seq
MIRT1409395	hsa-miR-4295	CLIP-seq
MIRT1409396	hsa-miR-4311	CLIP-seq
MIRT1409397	hsa-miR-4328	CLIP-seq
MIRT1409398	hsa-miR-4424	CLIP-seq
MIRT1409399	hsa-miR-4436b-3p	CLIP-seq
MIRT1409400	hsa-miR-4437	CLIP-seq
MIRT1409401	hsa-miR-4447	CLIP-seq
MIRT1409402	hsa-miR-4464	CLIP-seq
MIRT1409403	hsa-miR-4472	CLIP-seq
MIRT1409404	hsa-miR-4476	CLIP-seq
MIRT1409405	hsa-miR-4493	CLIP-seq
MIRT1409406	hsa-miR-4518	CLIP-seq
MIRT1409407	hsa-miR-454	CLIP-seq
MIRT1409408	hsa-miR-4639-5p	CLIP-seq
MIRT1409409	hsa-miR-4649-3p	CLIP-seq
MIRT1409410	hsa-miR-4653-5p	CLIP-seq
MIRT1409411	hsa-miR-4664-5p	CLIP-seq
MIRT1409412	hsa-miR-4666-5p	CLIP-seq
MIRT1409413	hsa-miR-4674	CLIP-seq
MIRT1409414	hsa-miR-4687-3p	CLIP-seq
MIRT1409415	hsa-miR-4699-3p	CLIP-seq
MIRT1409416	hsa-miR-4705	CLIP-seq
MIRT1409417	hsa-miR-4714-5p	CLIP-seq
MIRT1409418	hsa-miR-4717-5p	CLIP-seq
MIRT1409419	hsa-miR-4728-3p	CLIP-seq
MIRT1409420	hsa-miR-4731-5p	CLIP-seq
MIRT1409421	hsa-miR-4736	CLIP-seq
MIRT1409422	hsa-miR-4748	CLIP-seq
MIRT1409423	hsa-miR-4753-5p	CLIP-seq
MIRT1409424	hsa-miR-4757-5p	CLIP-seq
MIRT1409425	hsa-miR-4763-3p	CLIP-seq
MIRT1409426	hsa-miR-4772-5p	CLIP-seq
MIRT1409427	hsa-miR-4776-3p	CLIP-seq
MIRT1409428	hsa-miR-496	CLIP-seq
MIRT1409429	hsa-miR-5096	CLIP-seq
MIRT1409430	hsa-miR-548a-3p	CLIP-seq
MIRT1409431	hsa-miR-548c-3p	CLIP-seq
MIRT1409432	hsa-miR-548e	CLIP-seq
MIRT1409433	hsa-miR-548f	CLIP-seq
MIRT1409434	hsa-miR-548g	CLIP-seq
MIRT1409435	hsa-miR-548k	CLIP-seq
MIRT1409436	hsa-miR-548n	CLIP-seq
MIRT1409437	hsa-miR-548t	CLIP-seq
MIRT1409438	hsa-miR-571	CLIP-seq
MIRT1409439	hsa-miR-580	CLIP-seq
MIRT1409440	hsa-miR-582-5p	CLIP-seq
MIRT1409441	hsa-miR-583	CLIP-seq
MIRT1409442	hsa-miR-622	CLIP-seq
MIRT1409443	hsa-miR-628-5p	CLIP-seq
MIRT1409444	hsa-miR-764	CLIP-seq
MIRT1409445	hsa-miR-891a	CLIP-seq
MIRT1409446	hsa-miR-944	CLIP-seq
MIRT1409447	hsa-miR-96	CLIP-seq
MIRT2122749	hsa-miR-103b	CLIP-seq
MIRT1409350	hsa-miR-1207-5p	CLIP-seq
MIRT1409351	hsa-miR-1234	CLIP-seq
MIRT2122750	hsa-miR-1245b-5p	CLIP-seq
MIRT1409354	hsa-miR-1271	CLIP-seq
MIRT1409356	hsa-miR-128	CLIP-seq
MIRT1409357	hsa-miR-130a	CLIP-seq
MIRT1409358	hsa-miR-130b	CLIP-seq
MIRT1409359	hsa-miR-132	CLIP-seq
MIRT1409360	hsa-miR-135a	CLIP-seq
MIRT1409361	hsa-miR-135b	CLIP-seq
MIRT1409362	hsa-miR-148a	CLIP-seq
MIRT1409363	hsa-miR-148b	CLIP-seq
MIRT1409364	hsa-miR-152	CLIP-seq
MIRT2122751	hsa-miR-153	CLIP-seq
MIRT1409365	hsa-miR-181a	CLIP-seq
MIRT1409366	hsa-miR-181b	CLIP-seq
MIRT1409367	hsa-miR-181c	CLIP-seq
MIRT1409368	hsa-miR-181d	CLIP-seq
MIRT1409369	hsa-miR-182	CLIP-seq
MIRT1409375	hsa-miR-212	CLIP-seq
MIRT2122752	hsa-miR-219-2-3p	CLIP-seq
MIRT2122753	hsa-miR-2964a-3p	CLIP-seq
MIRT1409377	hsa-miR-301a	CLIP-seq
MIRT1409378	hsa-miR-301b	CLIP-seq
MIRT2122754	hsa-miR-3121-5p	CLIP-seq
MIRT2122755	hsa-miR-3142	CLIP-seq
MIRT1409379	hsa-miR-3160-3p	CLIP-seq
MIRT1409381	hsa-miR-3163	CLIP-seq
MIRT2122756	hsa-miR-3167	CLIP-seq
MIRT1409382	hsa-miR-342-5p	CLIP-seq
MIRT2122757	hsa-miR-3607-5p	CLIP-seq
MIRT1409385	hsa-miR-3666	CLIP-seq
MIRT2122758	hsa-miR-3676	CLIP-seq
MIRT2122759	hsa-miR-3682-3p	CLIP-seq
MIRT2122760	hsa-miR-3685	CLIP-seq
MIRT2122761	hsa-miR-3688-3p	CLIP-seq
MIRT2122762	hsa-miR-376c	CLIP-seq
MIRT1409386	hsa-miR-377	CLIP-seq
MIRT1409387	hsa-miR-378g	CLIP-seq
MIRT2122763	hsa-miR-384	CLIP-seq
MIRT2122764	hsa-miR-3978	CLIP-seq
MIRT2122765	hsa-miR-410	CLIP-seq
MIRT1409391	hsa-miR-4262	CLIP-seq
MIRT1409395	hsa-miR-4295	CLIP-seq
MIRT1409400	hsa-miR-4437	CLIP-seq
MIRT1409402	hsa-miR-4464	CLIP-seq
MIRT1409404	hsa-miR-4476	CLIP-seq
MIRT2122766	hsa-miR-448	CLIP-seq
MIRT1409405	hsa-miR-4493	CLIP-seq
MIRT2122767	hsa-miR-4523	CLIP-seq
MIRT1409407	hsa-miR-454	CLIP-seq
MIRT2122768	hsa-miR-455-5p	CLIP-seq
MIRT2122769	hsa-miR-4650-5p	CLIP-seq
MIRT2122770	hsa-miR-4659a-3p	CLIP-seq
MIRT2122771	hsa-miR-4659b-3p	CLIP-seq
MIRT1409411	hsa-miR-4664-5p	CLIP-seq
MIRT1409413	hsa-miR-4674	CLIP-seq
MIRT2122772	hsa-miR-4691-5p	CLIP-seq
MIRT1409415	hsa-miR-4699-3p	CLIP-seq
MIRT2122773	hsa-miR-4709-3p	CLIP-seq
MIRT1409418	hsa-miR-4717-5p	CLIP-seq
MIRT1409419	hsa-miR-4728-3p	CLIP-seq
MIRT1409420	hsa-miR-4731-5p	CLIP-seq
MIRT1409421	hsa-miR-4736	CLIP-seq
MIRT1409422	hsa-miR-4748	CLIP-seq
MIRT2122774	hsa-miR-4753-3p	CLIP-seq
MIRT1409423	hsa-miR-4753-5p	CLIP-seq
MIRT1409424	hsa-miR-4757-5p	CLIP-seq
MIRT1409425	hsa-miR-4763-3p	CLIP-seq
MIRT2122775	hsa-miR-4766-3p	CLIP-seq
MIRT1409428	hsa-miR-496	CLIP-seq
MIRT1409429	hsa-miR-5096	CLIP-seq
MIRT2122776	hsa-miR-513c	CLIP-seq
MIRT2122777	hsa-miR-514b-5p	CLIP-seq
MIRT2122778	hsa-miR-548p	CLIP-seq
MIRT1409439	hsa-miR-580	CLIP-seq
MIRT1409442	hsa-miR-622	CLIP-seq
MIRT2122779	hsa-miR-630	CLIP-seq
MIRT2122780	hsa-miR-876-5p	CLIP-seq
MIRT1409445	hsa-miR-891a	CLIP-seq
MIRT2122781	hsa-miR-942	CLIP-seq
MIRT1409446	hsa-miR-944	CLIP-seq
MIRT1409447	hsa-miR-96	CLIP-seq
MIRT2122749	hsa-miR-103b	CLIP-seq
MIRT1409350	hsa-miR-1207-5p	CLIP-seq
MIRT2345150	hsa-miR-1227	CLIP-seq
MIRT1409352	hsa-miR-125a-3p	CLIP-seq
MIRT1409353	hsa-miR-1266	CLIP-seq
MIRT1409354	hsa-miR-1271	CLIP-seq
MIRT1409359	hsa-miR-132	CLIP-seq
MIRT1409360	hsa-miR-135a	CLIP-seq
MIRT1409361	hsa-miR-135b	CLIP-seq
MIRT2122751	hsa-miR-153	CLIP-seq
MIRT1409369	hsa-miR-182	CLIP-seq
MIRT1409370	hsa-miR-194	CLIP-seq
MIRT1409373	hsa-miR-200b	CLIP-seq
MIRT1409374	hsa-miR-200c	CLIP-seq
MIRT1409375	hsa-miR-212	CLIP-seq
MIRT2345151	hsa-miR-3136-3p	CLIP-seq
MIRT1409380	hsa-miR-3161	CLIP-seq
MIRT1409381	hsa-miR-3163	CLIP-seq
MIRT2122756	hsa-miR-3167	CLIP-seq
MIRT2345152	hsa-miR-338-5p	CLIP-seq
MIRT2122757	hsa-miR-3607-5p	CLIP-seq
MIRT1409383	hsa-miR-3616-3p	CLIP-seq
MIRT1409384	hsa-miR-3664-3p	CLIP-seq
MIRT2122760	hsa-miR-3685	CLIP-seq
MIRT2122761	hsa-miR-3688-3p	CLIP-seq
MIRT2122762	hsa-miR-376c	CLIP-seq
MIRT1409386	hsa-miR-377	CLIP-seq
MIRT1409388	hsa-miR-383	CLIP-seq
MIRT2122763	hsa-miR-384	CLIP-seq
MIRT2345153	hsa-miR-3924	CLIP-seq
MIRT1409390	hsa-miR-3934	CLIP-seq
MIRT2122764	hsa-miR-3978	CLIP-seq
MIRT2345154	hsa-miR-4275	CLIP-seq
MIRT1409392	hsa-miR-4277	CLIP-seq
MIRT1409394	hsa-miR-429	CLIP-seq
MIRT2345155	hsa-miR-4327	CLIP-seq
MIRT1409399	hsa-miR-4436b-3p	CLIP-seq
MIRT1409402	hsa-miR-4464	CLIP-seq
MIRT1409404	hsa-miR-4476	CLIP-seq
MIRT2122766	hsa-miR-448	CLIP-seq
MIRT2345156	hsa-miR-4484	CLIP-seq
MIRT1409405	hsa-miR-4493	CLIP-seq
MIRT1409406	hsa-miR-4518	CLIP-seq
MIRT2122768	hsa-miR-455-5p	CLIP-seq
MIRT1409415	hsa-miR-4699-3p	CLIP-seq
MIRT1409416	hsa-miR-4705	CLIP-seq
MIRT1409418	hsa-miR-4717-5p	CLIP-seq
MIRT2345157	hsa-miR-4733-5p	CLIP-seq
MIRT1409421	hsa-miR-4736	CLIP-seq
MIRT1409422	hsa-miR-4748	CLIP-seq
MIRT1409423	hsa-miR-4753-5p	CLIP-seq
MIRT1409425	hsa-miR-4763-3p	CLIP-seq
MIRT1409426	hsa-miR-4772-5p	CLIP-seq
MIRT2345158	hsa-miR-485-3p	CLIP-seq
MIRT1409428	hsa-miR-496	CLIP-seq
MIRT1409429	hsa-miR-5096	CLIP-seq
MIRT2345159	hsa-miR-520d-5p	CLIP-seq
MIRT2345160	hsa-miR-524-5p	CLIP-seq
MIRT1409435	hsa-miR-548k	CLIP-seq
MIRT1409436	hsa-miR-548n	CLIP-seq
MIRT2122778	hsa-miR-548p	CLIP-seq
MIRT1409437	hsa-miR-548t	CLIP-seq
MIRT1409439	hsa-miR-580	CLIP-seq
MIRT1409440	hsa-miR-582-5p	CLIP-seq
MIRT1409442	hsa-miR-622	CLIP-seq
MIRT1409444	hsa-miR-764	CLIP-seq
MIRT2122780	hsa-miR-876-5p	CLIP-seq
MIRT1409446	hsa-miR-944	CLIP-seq
MIRT1409447	hsa-miR-96	CLIP-seq
MIRT2122756	hsa-miR-3167	CLIP-seq
MIRT2122760	hsa-miR-3685	CLIP-seq
MIRT2122761	hsa-miR-3688-3p	CLIP-seq
MIRT2122763	hsa-miR-384	CLIP-seq
MIRT2122764	hsa-miR-3978	CLIP-seq
MIRT2122775	hsa-miR-4766-3p	CLIP-seq
MIRT2122778	hsa-miR-548p	CLIP-seq
MIRT2122780	hsa-miR-876-5p	CLIP-seq
MIRT1409446	hsa-miR-944	CLIP-seq

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Transcription factor	Regulation	Reference
CREM	Unknown	10409662

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	24289924
GO:0001046	Function	Core promoter sequence-specific DNA binding	IDA	15601843
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	7729427, 9418870, 12237304, 15735663, 17483474, 23292512, 27515574, 33961781, 35271311
GO:0005634	Component	Nucleus	EXP	23332750
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IBA
GO:0005669	Component	Transcription factor TFIID complex	IDA	14580349, 29111974
GO:0005669	Component	Transcription factor TFIID complex	IEA
GO:0005669	Component	Transcription factor TFIID complex	IPI	23332750
GO:0005669	Component	Transcription factor TFIID complex	TAS	9192867
GO:0005829	Component	Cytosol	IDA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006352	Process	DNA-templated transcription initiation	IDA	9603525
GO:0006352	Process	DNA-templated transcription initiation	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8942982
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IBA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	9603525, 12771217
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IBA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	9603525
GO:0017162	Function	Aryl hydrocarbon receptor binding	IPI	15641800
GO:0032991	Component	Protein-containing complex	IMP	15641800
GO:0033276	Component	Transcription factor TFTC complex	IDA	9603525, 10373431
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	17884155
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	18206972
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IPI	27007846
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	17884155
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0071339	Component	MLL1 complex	IDA	15960975

MIM	HGNC	e!Ensembl
601796	11537	ENSG00000130699

O00268

Protein name

Transcription initiation factor TFIID subunit 4 (RNA polymerase II TBP-associated factor subunit C) (TBP-associated factor 4) (Transcription initiation factor TFIID 130 kDa subunit) (TAF(II)130) (TAFII-130) (TAFII130) (Transcription initiation factor TFII

Protein function

The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TAT

PDB

1H3O , 2P6V , 6MZC , 6MZD , 6MZL , 6MZM , 7EDX , 7EG7 , 7EG8 , 7EG9 , 7EGA , 7EGB , 7EGC , 7EGD , 7EGE , 7EGF , 7EGG , 7EGI , 7EGJ , 7ENA , 7ENC , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07531	TAFH	592 → 683	NHR1 homology to TAF	Family
PF05236	TAF4	834 → 1082	Transcription initiation factor TFIID component TAF4 family	Family

Sequence

MAAGSDLLDEVFFNSEVDEKVVSDLVGSLESQLAASAAHHHHLAPRTPEVRAAAAGALGN
HVVSGSPAGAAGAGPAAPAEGAPGAAPEPPPAGRARPGGGGPQRPGPPSPRRPLVPAGPA
PPAAKLRPPPEGSAGSCAPVPAAAAVAAGPEPAPAGPAKPAGPAALAARAGPGPGPGPGP
GPGPGPGKPAGPGAAQTLNGSAALLNSHHAAAPAVSLVNNGPAALLPLPKPAAPGTVIQT
PPFVGAAAPPAPAAPSPPAAPAPAAPAAAPPPPPPAPATLARPPGHPAGPPTAAPAVPPP
AAAQNGGSAGAAPAPAPAAGGPAGVSGQPGPGAAAAAPAPGVKAESPKRVVQAAPPAAQT
LAASGPASTAASMVIGPTMQGALPSPAAVPPPAPGTPTGLPKGAAGAVTQSLSRTPTATT
SGIRATLTPTVLAPRLPQPPQNPTNIQNFQLPPGMVLVRSENGQLLMIPQQALAQMQAQA
HAQPQTTMAPRPATPTSAPPVQISTVQAPGTPIIARQVTPTTIIKQVSQAQTTVQPSATL
QRSPGVQPQLVLGGAAQTASLGTATAVQTGTPQRTVPGATTTSSAATETMENVKKCKNFL
STLIKLASSGKQSTETAANVKELVQNLLDGKIEAEDFTSRLYRELNSSPQPYLVPFLKRS
LPALRQLTPDSAAFIQQSQQQPPPPTSQATTALTAVVLSSSVQRTAGKTAATVTSALQPP
VLSLTQPTQVGVGKQGQPTPLVIQQPPKPGALIRPPQVTLTQTPMVALRQPHNRIMLTTP
QQIQLNPLQPVPVVKPAVLPGTKALSAVSAQAAAAQKNKLKEPGGGSFRDDDDINDVASM
AGVNLSEESARILATNSELVGTLTRSCKDETFLLQAPLQRRILEIGKKHGITELHPDVVS
YVSHATQQRLQNLVEKISETAQQKNFSYKDDDRYEQASDVRAQLKFFEQLDQIEKQRKDE
QEREILMRAAKSRSRQEDPEQLRLKQKAKEMQQQELAQMRQRDANLTALAAIGPRKKRKV
DCPGPGSGAEGSGPGSVVPGSSGVGTPRQFTRQRITRVNLRDLIFCLENERETSHSLLLY
KAFLK

Sequence length

1085

Interactions

View interactions

	KEGG		Reactome
	Basal transcription factors Huntington disease		RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Initiation And Promoter Clearance

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, autosomal dominant 73	Likely pathogenic; Pathogenic	rs2145530654, rs2516041786, rs2515980140, rs753587914, rs2515989112, rs2515985503, rs2515981638	RCV005252146 RCV004555358 RCV004577634 RCV004577635 RCV004577636 RCV004577637 RCV004577638 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs753587914	RCV004787135	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	11211058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	35904126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	35904126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11988536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35904126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29316427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	11211058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27499390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only

TAF4 (TATA-box binding protein associated factor 4)