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FLASH GENE
Symbol GTF2E2 contributors: mct - updated : 14-04-2016
HGNC name general transcription factor IIE, polypeptide 2, beta 34kDa
HGNC id 4651
Corresponding disease
TTDRP DNA Repair-Proficient Trichothiodystrophy
Location 8p12      Physical location : 30.436.031 - 30.515.738
Synonym symbol(s) TF2EB, FE, TF2E2, TFIIE-B
DNA
TYPE anonymous DNA segment
STRUCTURE 79.73 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • binds within the promoter region, adjacent to the transcription initiation site where promoter melting begins at transcription initiation
  • MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1560 - 291 - 2014 25308091
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a region of RAP 30 (the small subunit of TFIIF) with squence similarity to a sigma-factor subregion implicated in binding to RNA polymerase
  • a forkhead motif within the central region, essential for transcription, that possessed a double-stranded DNA-binding activity, and primary function of the forkhead region is dsDNA-binding in transcription with three positively charged lysine AAs which play a key role in this function
  • basic region helix-loop-helix (bHLH) motif
  • three-winged helix (WH) motifs, with one in GTF2E1 and two in GTF2E2
  • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine C330006j08 Rik
    homolog to C.elegans F54D5.11
    Homologene
    FAMILY TFIIE beta subunit family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • ERCC3 recruitment to initiation complex
  • stimulating the RNA polymerase II C terminal domain kinase and DNA-dependent ATPase activities of ERCC3
  • plays essential roles in both transcription initiation and the transition from initiation to elongation
  • has essential roles in both transcription initiation and promoter escape
  • transcription factor essential for the assembly and stabilization of the RNA pol II pre-initiation complex (PIC) at the transcription start site
  • CELLULAR PROCESS nucleotide, transcription, initiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramer of two alpha and two beta chains
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CDK7 thus acts through GTF2E1, GTF2E2 and SUPT5H to establish, and through CDK9 to relieve, barriers to elongation
  • IFRD1 plays essential roles in the transition step from transcription initiation to elongation by binding to melted DNA in collaboration with GTF2E2
  • IFRD1 is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (ERCC3)
  • GTF2E2 binds to the WH domain of GTF12E1 via its bHLH domain (basic region-helix-loop-helix motif, AAs 193–240)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TTDRP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS