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

    Gene ID: 2961, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30578318..30658236, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (30857764..30937703, complement)
    RS_2024_09 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 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. 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
    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. 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
    4. 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
    5. GTF2E2 is a novel biomarker for recurrence after surgery and promotes progression of esophageal squamous cell carcinoma via miR-139-5p/GTF2E2/FUS axis. Zhang Y, et al. Oncogene, 2022 Feb. PMID 34853466, Free PMC Article

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GTF2E2 is a novel biomarker for recurrence after surgery and promotes progression of esophageal squamous cell carcinoma via miR-139-5p/GTF2E2/FUS axis.
      Title: GTF2E2 is a novel biomarker for recurrence after surgery and promotes progression of esophageal squamous cell carcinoma via miR-139-5p/GTF2E2/FUS axis.
    2. 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.
    3. 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.
    4. Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
      Title: Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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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    NEW Try the new Transcript table

    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_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
      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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