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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6878
Gene name	TATA-box binding protein associated factor 6
Gene symbol	TAF6
Synonyms (NCBI Gene)	ALYUSMGC:8964TAF(II)70TAF(II)80TAF2ETAFII-70TAFII-80TAFII70TAFII80TAFII85
Chromosome	7
Chromosome location	7q22.1
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,

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374993554	A>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs727503778	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1131691405	C>T	Likely-pathogenic	Splice donor variant
rs1554387469	C>T	Likely-pathogenic	Splice acceptor variant

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028133	hsa-miR-93-5p	Sequencing	20371350
MIRT040207	hsa-miR-615-3p	CLASH	23622248
MIRT550110	hsa-miR-3609	PAR-CLIP	21572407
MIRT550109	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT550108	hsa-miR-8060	PAR-CLIP	21572407
MIRT550107	hsa-miR-1252-5p	PAR-CLIP	21572407
MIRT550106	hsa-miR-6828-5p	PAR-CLIP	21572407
MIRT550110	hsa-miR-3609	PAR-CLIP	21572407
MIRT550109	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT550108	hsa-miR-8060	PAR-CLIP	21572407
MIRT550107	hsa-miR-1252-5p	PAR-CLIP	21572407
MIRT550106	hsa-miR-6828-5p	PAR-CLIP	21572407
MIRT1409712	hsa-miR-1207-5p	CLIP-seq
MIRT1409713	hsa-miR-147	CLIP-seq
MIRT1409714	hsa-miR-3064-5p	CLIP-seq
MIRT1409715	hsa-miR-3177-5p	CLIP-seq
MIRT1409716	hsa-miR-338-5p	CLIP-seq
MIRT1409717	hsa-miR-346	CLIP-seq
MIRT1409718	hsa-miR-3911	CLIP-seq
MIRT1409719	hsa-miR-4288	CLIP-seq
MIRT1409720	hsa-miR-4492	CLIP-seq
MIRT1409721	hsa-miR-4498	CLIP-seq
MIRT1409722	hsa-miR-4648	CLIP-seq
MIRT1409723	hsa-miR-4654	CLIP-seq
MIRT1409724	hsa-miR-4666-5p	CLIP-seq
MIRT1409725	hsa-miR-4687-3p	CLIP-seq
MIRT1409726	hsa-miR-4718	CLIP-seq
MIRT1409727	hsa-miR-4736	CLIP-seq
MIRT1409728	hsa-miR-4738-3p	CLIP-seq
MIRT1409729	hsa-miR-4763-3p	CLIP-seq
MIRT1409730	hsa-miR-4769-5p	CLIP-seq
MIRT1409731	hsa-miR-548ah	CLIP-seq
MIRT1409732	hsa-miR-632	CLIP-seq
MIRT1409733	hsa-miR-644	CLIP-seq
MIRT1409734	hsa-miR-654-3p	CLIP-seq
MIRT1409735	hsa-miR-762	CLIP-seq
MIRT1409736	hsa-miR-892b	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000124	Component	SAGA complex	IEA
GO:0003677	Function	DNA binding	IDA	15601843
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0005515	Function	Protein binding	IPI	7667268, 9045704, 15328371, 15601843, 15899866, 21994455, 32296183
GO:0005634	Component	Nucleus	EXP	23332750
GO:0005634	Component	Nucleus	IDA	18628956
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
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	8262073, 14580349, 27007846, 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	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595
GO:0006352	Process	DNA-templated transcription initiation	IDA	9603525
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525
GO:0006366	Process	Transcription by RNA polymerase II	NAS	7667268
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	9603525, 15328371
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15328371
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:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	15328371
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IEA
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
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	17884155
GO:0043065	Process	Positive regulation of apoptotic process	IDA	11583621, 18628956
GO:0045786	Process	Negative regulation of cell cycle	IDA	15328371
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	18206972
GO:0046695	Component	SLIK (SAGA-like) complex	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IBA
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IPI	27007846
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	ISS
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	11583621, 17884155, 18628956
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IDA	20096117

MIM	HGNC	e!Ensembl
602955	11540	ENSG00000106290

P49848

Protein name

Transcription initiation factor TFIID subunit 6 (RNA polymerase II TBP-associated factor subunit E) (Transcription initiation factor TFIID 70 kDa subunit) (TAF(II)70) (TAFII-70) (TAFII70) (Transcription initiation factor TFIID 80 kDa subunit) (TAF(II)80)

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

5FUR , 6F3T , 6MZC , 6MZD , 6MZL , 6MZM , 7EDX , 7EG7 , 7EG8 , 7EG9 , 7EGA , 7EGB , 7EGC , 7EGD , 7EGE , 7EGF , 7EGG , 7EGH , 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
PF02969	TAF	11 → 76	TATA box binding protein associated factor (TAF)	Domain
PF07571	TAF6_C	308 → 397	TAF6 C-terminal HEAT repeat domain	Family

Sequence

MAEEKKLKLSNTVLPSESMKVVAESMGIAQIQEETCQLLTDEVSYRIKEIAQDALKFMHM
GKRQKLTTSDIDYALKLKNVEPLYGFHAQEFIPFRFASGGGRELYFYEEKEVDLSDIINT
PLPRVPLDVCLKAHWLSIEGCQPAIPENPPPAPKEQQKAEATEPLKSAKPGQEEDGPLKG
KGQGATTADGKGKEKKAPPLLEGAPLRLKPRSIHELSVEQQLYYKEITEACVGSCEAKRA
EALQSIATDPGLYQMLPRFSTFISEGVRVNVVQNNLALLIYLMRMVKALMDNPTLYLEKY
VHELIPAVMTCIVSRQLCLRPDVDNHWALRDFAARLVAQICKHFSTTTNNIQSRITKTFT
KSWVDEKTPWTTRYGSIAGLAELGHDVIKTLILPRLQQEGERIRSVLDGPVLSNIDRIGA
DHVQSLLLKHCAPVLAKLRPPPDNQDAYRAEFGSLGPLLCSQVVKARAQAALQAQQVNRT
TLTITQPRPTLTLSQAPQPGPRTPGLLKVPGSIALPVQTLVSARAAAPPQPSPPPTKFIV
MSSSSSAPSTQQVLSLSTSAPGSGSTTTSPVTTTVPSVQPIVKLVSTATTAPPSTAPSGP
GSVQKYIVVSLPPTGEGKGGPTSHPSPVPPPASSPSPLSGSALCGGKQEAGDSPPPAPGT
PKANGSQPNSGSPQPAP

Sequence length

677

Interactions

View interactions

	KEGG		Reactome
	Basal transcription factors		RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation RNA polymerase II transcribes snRNA genes 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
Alazami-Yuan syndrome	Pathogenic	rs727503778	RCV000241539	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cornelia de Lange syndrome 1	Pathogenic	rs727503778	RCV000157054	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
Abnormal facial shape	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAF6-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ALAZAMI-YUAN SYNDROME	Alazami-Yuan Syndrome	UNIPROT_DG	25558065, 25574841		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALAZAMI-YUAN SYNDROME	Alazami-Yuan Syndrome	GENOMICS_ENGLAND_DG	25574841		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALAZAMI-YUAN SYNDROME	Alazami-Yuan Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALAZAMI-YUAN SYNDROME	Alazami-Yuan Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia de Lange Syndrome 1	Cornelia De Lange Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	25574841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36849876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25574841		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TAF6 (TATA-box binding protein associated factor 6)