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GTF2E2 general transcription factor IIE subunit 2 [ Homo sapiens (human) ]

Gene ID: 2961, updated on 3-Apr-2024

Summary

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Official Symbol
GTF2E2provided by HGNC
Official Full Name
general transcription factor IIE subunit 2provided by HGNC
Primary source
HGNC:HGNC:4651
See related
Ensembl:ENSG00000197265 MIM:189964; AllianceGenome:HGNC:4651
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
FE; TTD6; TF2E2; TFIIE-B
Summary
The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in testis (RPKM 12.1), lymph node (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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See GTF2E2 in Genome Data Viewer
Location:
8p12
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30578318..30658236, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (30857764..30937703, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30435835..30515753, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268025 Neighboring gene RNA binding protein, mRNA processing factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284105-30284606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284607-30285106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30295211-30295746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30303831-30304359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30304360-30304887 Neighboring gene Sharpr-MPRA regulatory region 3907 Neighboring gene NANOG hESC enhancer GRCh37_chr8:30310384-30310885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30318783-30319578 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:30333285-30333476 Neighboring gene uncharacterized LOC124901929 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30396862-30397470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30396143-30396854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30397471-30398079 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30398080-30398688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30398689-30399296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30399297-30399906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30400515-30401122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30401123-30401730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30406725-30407384 Neighboring gene Sharpr-MPRA regulatory region 2547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30416141-30416640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30415639-30416140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30422314-30422922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27213 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30514282-30514953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30515625-30516296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19080 Neighboring gene RNA, U5A small nuclear 3, pseudogene Neighboring gene small integral membrane protein 18 Neighboring gene NANOG hESC enhancer GRCh37_chr8:30560335-30560881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19082 Neighboring gene glutathione-disulfide reductase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30584261-30584948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30586711-30587235 Neighboring gene uncharacterized LOC105379356 Neighboring gene uncharacterized LOC105379355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27214 Neighboring gene UBX domain protein 8

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
  • 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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Related articles in PubMed

  1. Mayaro Virus Non-Structural Protein 2 Circumvents the Induction of Interferon in Part by Depleting Host Transcription Initiation Factor IIE Subunit 2. Ishida R, et al. Cells, 2021 Dec 12. PMID 34944018, Free PMC Article
  2. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Theil AF, et al. Hum Mol Genet, 2017 Dec 1. PMID 28973399, Free PMC Article
  3. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Kuschal C, et al. Am J Hum Genet, 2016 Apr 7. PMID 26996949, Free PMC Article
  4. Central forkhead domain of human TFIIE beta plays a primary role in binding double-stranded DNA at transcription initiation. Tanaka A, et al. Genes Cells, 2009 Mar. PMID 19210545
  5. Integrated map of the chromosome 8p12-p21 region, a region involved in human cancers and Werner syndrome. Imbert A, et al. Genomics, 1996 Feb 15. PMID 8786118

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GTF2E2 downregulated by miR-340-5p inhibits the malignant progression of glioblastoma.
    Title: GTF2E2 downregulated by miR-340-5p inhibits the malignant progression of glioblastoma.
  2. Mayaro Virus Non-Structural Protein 2 Circumvents the Induction of Interferon in Part by Depleting Host Transcription Initiation Factor IIE Subunit 2.
    Title: Mayaro Virus Non-Structural Protein 2 Circumvents the Induction of Interferon in Part by Depleting Host Transcription Initiation Factor IIE Subunit 2.
  3. Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
    Title: Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
  4. functional analysis of Trichothiodystrophy causative TFIIEbeta mutation demonstrates that mutant TFIIEbeta strongly reduces the total amount of the entire TFIIE complex, with a remarkable temperature-sensitive transcription defect.
    Title: Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
  5. The N-terminal half of TFIIEalpha forms an extended winged helix (WH) domain with an additional helix, followed by a zinc-finger domain. TFIIEbeta contains the WH2 domain, followed by two coiled-coil helices intertwining with TFIIEalpha.
    Title: Crystal Structure of Human General Transcription Factor TFIIE at Atomic Resolution.
  6. We underline role of TFIIE in transcription and its distinction from nucleotide excision repair. Trichothiodystrophy individuals with mutations in GTF2E2 highlight the importance of the direct interaction between TFIIH and TFIIE in transcription process.
    Title: GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
  7. PC4 plays essential roles in the transition step from transcription initiation to elongation by binding to melted DNA in collaboration with TFIIEbeta.
    Title: Transcription cofactor PC4 plays essential roles in collaboration with the small subunit of general transcription factor TFIIE.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
  9. TFIIE is an alpha/beta heterodimer in solution; A model for the quaternary architecture of the complex is proposed that provides a structural framework to discuss the function of TFIIE in the context of RNA polymerase II transcription initiation.
    Title: Structure and oligomeric state of human transcription factor TFIIE.
  10. These data suggest a model in which TFIIE binds to a position adjacent to the initiation site via the forkhead domain, enabling TFIIH to begin opening the promoter.
    Title: Central forkhead domain of human TFIIE beta plays a primary role in binding double-stranded DNA at transcription initiation.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Trichothiodystrophy 6, nonphotosensitive
MedGen: C4310785 OMIM: 616943 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
EBI GWAS Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2; TFIIE-B) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIE, during Tat-mediated transactivation of 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
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables RNA polymerase II general transcription initiation factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to TFIIH-class transcription factor complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transcription initiation at RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of transcription factor TFIID complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription factor TFIIE complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
transcription initiation factor IIE subunit beta
Names
TFIIE beta subunit
TFIIE-beta
general transcription factor IIE, polypeptide 2, beta 34kDa

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_052833.1 RefSeqGene

    Range
    5006..84924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348353.1 → NP_001335282.1  transcription initiation factor IIE subunit beta isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC102945, AC103959
    UniProtKB/TrEMBL
    E5RH41
    Conserved Domains (2) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity
    pfam18121
    Location:146 → 204
    TFA2_Winged_2; TFA2 Winged helix domain 2

  2. NM_002095.6 → NP_002086.1  transcription initiation factor IIE subunit beta isoform 1

    See identical proteins and their annotated locations for NP_002086.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA483281, BC030572, BX421791
    Consensus CDS
    CCDS6078.1
    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9
    Related
    ENSP00000348168.4, ENST00000355904.9
    Conserved Domains (2) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity
    pfam18121
    Location:146 → 204
    TFA2_Winged_2; TFA2 Winged helix domain 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    30578318..30658236 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013364.2 → XP_016868853.1  transcription initiation factor IIE subunit beta isoform X1

    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9
    Conserved Domains (2) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity
    pfam18121
    Location:146 → 204
    TFA2_Winged_2; TFA2 Winged helix domain 2

  2. XM_017013363.2 → XP_016868852.1  transcription initiation factor IIE subunit beta isoform X1

    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9
    Conserved Domains (2) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity
    pfam18121
    Location:146 → 204
    TFA2_Winged_2; TFA2 Winged helix domain 2

  3. XM_024447138.2 → XP_024302906.1  transcription initiation factor IIE subunit beta isoform X1

    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9
    Conserved Domains (2) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity
    pfam18121
    Location:146 → 204
    TFA2_Winged_2; TFA2 Winged helix domain 2

  4. XM_011544509.3 → XP_011542811.1  transcription initiation factor IIE subunit beta isoform X2

    See identical proteins and their annotated locations for XP_011542811.1

    UniProtKB/TrEMBL
    E5RH41
    Conserved Domains (2) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity
    pfam18121
    Location:146 → 204
    TFA2_Winged_2; TFA2 Winged helix domain 2

  5. XM_011544510.2 → XP_011542812.1  transcription initiation factor IIE subunit beta isoform X3

    UniProtKB/TrEMBL
    E5RH41
    Related
    ENSP00000429921.1, ENST00000518599.5
    Conserved Domains (1) summary
    cd07977
    Location:68 → 146
    TFIIE_beta_winged_helix; TFIIE_beta_winged_helix domain, located at the central core region of TFIIE beta, with double-stranded DNA binding activity

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    30857764..30937703 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360372.1 → XP_054216347.1  transcription initiation factor IIE subunit beta isoform X1

    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9

  2. XM_054360371.1 → XP_054216346.1  transcription initiation factor IIE subunit beta isoform X1

    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9

  3. XM_054360373.1 → XP_054216348.1  transcription initiation factor IIE subunit beta isoform X1

    UniProtKB/Swiss-Prot
    D3DSV2, P29084, Q9H2B9

  4. XM_054360374.1 → XP_054216349.1  transcription initiation factor IIE subunit beta isoform X2

  5. XM_054360375.1 → XP_054216350.1  transcription initiation factor IIE subunit beta isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P29084.1 GenPept UniProtKB/Swiss-Prot:P29084

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