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FLASH GENE
Symbol GTF2H2 contributors: mct - updated : 02-04-2014
HGNC name general transcription factor IIH, polypeptide 2, 44kDa
HGNC id 4656
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C4-type zinc finger and a ring-type zinc finger
  • a VWFA domain
  • N-terminus interacts with and regulates XPD
  • intact C- terminus is required for a successful escape
    • of RNAP II form the promoter
    HOMOLOGY
    interspecies homolog to yeast S.cerevisIae Ss11p
    homolog to murine Gtf2h2
    Homologene
    FAMILY
    CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in UV resistance
  • AF-1-specific coactivator of estrogen receptor
  • regulating XPD by the interaction via the N terminal domain
  • involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II
  • protein kinase, bi-directional DNA helicase
  • is a major actor of both nucleotide excision repair subpathways of which transcription-coupled repair highlights the interplay between DNA repair and transcription
    • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription, initiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of RNA polymerase II transcription initiation factor IIM
  • component of the core-TFIIH basal transcription factor (one of the six subunits)
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
  • CAK, XPD, XPB, p62 ans P34 (TFIIH for the last two)
  • ELL is a GTF2H2 partner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in SMA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS