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

Gene ID: 6873, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See TAF2 in Genome Data Viewer
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_000008.11Genomic Context describing neighboring genes Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 2 Neighboring gene uncharacterized LOC105375727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:120684845-120685448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:120685449-120686051 Neighboring gene RN7SK pseudogene 153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27843 Neighboring gene uncharacterized LOC105375728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19483 Neighboring gene DNA replication and sister chromatid cohesion 1 Neighboring gene RNA, 7SL, cytoplasmic 396, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. 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.
  3. 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.
  4. 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
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Variation

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See Variation Viewer (GRCh37.p13)

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

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

  1. NG_033911.2 RefSeqGene

    Range
    5000..107067
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    119730774..119832841 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A8I5KSY6, H0YC37
    Related
    ENSP00000509978.1, ENST00000688645.1

  2. 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

  3. 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

  4. 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

  5. XM_047422152.1 → XP_047278108.1  transcription initiation factor TFIID subunit 2 isoform X6

  6. 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)

  7. XM_047422153.1 → XP_047278109.1  transcription initiation factor TFIID subunit 2 isoform X7

    Related
    ENST00000692711.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    120859650..120961708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361105.1 → XP_054217080.1  transcription initiation factor TFIID subunit 2 isoform X3

  2. XM_054361104.1 → XP_054217079.1  transcription initiation factor TFIID subunit 2 isoform X2

  3. XM_054361103.1 → XP_054217078.1  transcription initiation factor TFIID subunit 2 isoform X1

  4. XM_054361106.1 → XP_054217081.1  transcription initiation factor TFIID subunit 2 isoform X4

  5. XM_054361108.1 → XP_054217083.1  transcription initiation factor TFIID subunit 2 isoform X6

  6. XM_054361107.1 → XP_054217082.1  transcription initiation factor TFIID subunit 2 isoform X5

  7. XM_054361109.1 → XP_054217084.1  transcription initiation factor TFIID subunit 2 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P1X5.3 GenPept UniProtKB/Swiss-Prot:Q6P1X5

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