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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
DNA
TYPE functioning gene
SPECIAL FEATURE
text in the SMN telomeric cluster
STRUCTURE 32.00 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
text a number of isoforms maybe produced by incomplete gene duplication and alternative splicing
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage pre B cells
cell lines
fluid/secretion
at STAGE
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