TAF2 TATA-box binding protein associated factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF2provided by HGNC
Official Full Name: TATA-box binding protein associated factor 2provided by HGNC
Primary source: HGNC:HGNC:11536
See related: Ensembl:ENSG00000064313 MIM:604912; AllianceGenome:HGNC:11536
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRT40; TAF2B; CIF150; TAFII150
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, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 8.1), lymph node (RPKM 6.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.12

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (119730774..119832841, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (120859650..120961708, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (120743014..120845081, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.
Title: Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.
TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
Title: TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
the TAF2-TAF8-TAF10 complex demonstrates that there is a stepwise assembly pathway of nuclear holo-TFIID, regulated by nuclear import of preformed cytoplasmic submodules
Title: Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.
This study suggested that the Microcephaly thin corpus callosum intellectual disability syndrome is caused by the more conserved mutation p.Thr186Arg, with the second sequence change identified, p.Pro416His.
Title: Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Microcephaly-thin corpus callosum-intellectual disability syndrome MedGen: C3810080 OMIM: 615599 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of TFIID with the HIV-1 LTR, and therefore presumably HIV-1 Tat protein, is primarily dependent on the LTR TATA element and may also be stabilized or regulated by flanking E box motifs and basic helix-loop-helix proteins such as AP-4 and E47	PubMed
	tat	TATA binding protein (TBP)-associated factors (TAFs) in the TFIID complex are required for activation by transcription factors, but are dispensable for HIV-1 Tat LTR transactivation function	PubMed
	tat	HIV-1 Tat stabilizes the interaction of TFIIA with TFIID, and TFIIA and TFIID are required to reconstitute Tat-specific and TAR-dependent activation of HIV transcription in vitro	PubMed
	tat	HIV-1 Tat binds, through amino acids 36-50, directly to the TBP subunit of the TFIID holoenzyme complex (which includes at least TFIID subunits p250, p125, p70, TBP, and p30), and increases the interaction of TFIID with the HIV-1 LTR promoter	PubMed
	tat	A novel function of LBP-1, restricting HIV-1 transcription at the level of elongation by preventing the binding of TFIID to the promoter, is suppressed by HIV-1 Tat, indicating Tat helps recruit TFIID to the HIV-1 LTR	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TAF2_3470 (e-PCR)
- UniSTS:463921

G17201 (e-PCR)
- UniSTS:21568

SHGC-82884 (e-PCR)
- UniSTS:104791

WI-13446 (e-PCR)
- UniSTS:71870

G59496 (e-PCR)
- UniSTS:136660

G31435 (e-PCR)
- UniSTS:40428

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to RNA polymerase II general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II general transcription initiation factor activity	IC Inferred by Curator more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	IPI Inferred from Physical Interaction more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	EXP Inferred from Experiment more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription factor TFIID complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIID complex	IPI Inferred from Physical Interaction more info	PubMed
part_of transcription factor TFIID complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription factor TFTC complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFTC complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 2

Names: 150 kDa cofactor of initiator function; RNA polymerase II TBP-associated factor subunit B; TAF(II)150; TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD; TBP-associated factor 150 kDa; cofactor of initiator function, 150kD subunit; transcription initiation factor TFIID 150 kDa subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033911.2 RefSeqGene

Range

5000..107067

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003184.4 → NP_003175.2 transcription initiation factor TFIID subunit 2

Status: REVIEWED

Source sequence(s)

AC021945, AC107960

Consensus CDS

CCDS34937.1

UniProtKB/Swiss-Prot

B2RE82, O43487, O43604, O60668, Q6P1X5, Q86WW7, Q8IWK4

UniProtKB/TrEMBL

H0YC37

Related

ENSP00000367406.2, ENST00000378164.7

Conserved Domains (1) summary

cd09839
Location:28 → 523

M1_like_TAF2; TATA binding protein (TBP) associated factor 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

119730774..119832841 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017013779.3 → XP_016869268.1 transcription initiation factor TFIID subunit 2 isoform X3

UniProtKB/TrEMBL

A0A8I5KSY6, H0YC37

Related

ENSP00000509978.1, ENST00000688645.1
XM_011517259.3 → XP_011515561.1 transcription initiation factor TFIID subunit 2 isoform X2

UniProtKB/TrEMBL

A0A8I5QJR0, H0YC37

Related

ENSP00000510174.1, ENST00000685235.1

Conserved Domains (1) summary

cd09839
Location:27 → 541

M1_TAF2; TATA binding protein (TBP) associated factor 2
XM_006716621.4 → XP_006716684.1 transcription initiation factor TFIID subunit 2 isoform X1

UniProtKB/TrEMBL

A0A8I5KV60, H0YC37

Related

ENSP00000509206.1, ENST00000686879.1

Conserved Domains (1) summary

cd09839
Location:27 → 541

M1_TAF2; TATA binding protein (TBP) associated factor 2
XM_017013780.2 → XP_016869269.1 transcription initiation factor TFIID subunit 2 isoform X4

UniProtKB/TrEMBL

H0YC37

Conserved Domains (2) summary

cd09839
Location:2 → 372

M1_TAF2; TATA binding protein (TBP) associated factor 2

pfam13646
Location:483 → 538

HEAT_2; HEAT repeats
XM_047422152.1 → XP_047278108.1 transcription initiation factor TFIID subunit 2 isoform X6
XM_017013783.3 → XP_016869272.1 transcription initiation factor TFIID subunit 2 isoform X5

UniProtKB/TrEMBL

H0YC37

Conserved Domains (2) summary

pfam13646
Location:441 → 496

HEAT_2; HEAT repeats

cl14813
Location:1 → 330

GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
XM_047422153.1 → XP_047278109.1 transcription initiation factor TFIID subunit 2 isoform X7

Related

ENST00000692711.1

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

120859650..120961708 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361105.1 → XP_054217080.1 transcription initiation factor TFIID subunit 2 isoform X3
XM_054361104.1 → XP_054217079.1 transcription initiation factor TFIID subunit 2 isoform X2
XM_054361103.1 → XP_054217078.1 transcription initiation factor TFIID subunit 2 isoform X1
XM_054361106.1 → XP_054217081.1 transcription initiation factor TFIID subunit 2 isoform X4
XM_054361108.1 → XP_054217083.1 transcription initiation factor TFIID subunit 2 isoform X6
XM_054361107.1 → XP_054217082.1 transcription initiation factor TFIID subunit 2 isoform X5
XM_054361109.1 → XP_054217084.1 transcription initiation factor TFIID subunit 2 isoform X7