Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GTF2H2 contributors: mct - updated : 02-04-2014
HGNC name general transcription factor IIH, polypeptide 2, 44kDa
HGNC id 4656
Location 5q13.1      Physical location : 70.330.952 - 70.363.497
Synonym name
  • general (basal) transcription factor IIH, p44 subunit
  • Synonym symbol(s) BTF2HT, BTF2P44, BTF2,TFIIH
    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
    Physical map
    EEF1B3 5q12-q14 eukaryotic translation elongation factor 1 beta 3 PIK3R1 5q12-q13 phosphoinositide-3-kinase, regulatory subunit, polypeptide 1 (p85 alpha) SLC30A5 5q12.1 solute carrier family 30 (zinc transporter), member 5 CCNB1 5q11-q12 cyclin B1 CENPH 5p15.2 centromere protein H MRPS36 5q13.3 mitochondrial ribosomal protein S36 CDK7 2p15-pcen cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) KENAE 5q13.1 Kenae LOC285653 5q13.1 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein TAF9 5q12 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa RAD17 5q12-q13.1 RAD17 homolog (S. pombe) FLJ30532 5q13.1 hypothetical protein FLJ30532 OCLN 5q13.1 occludin GTF2H2 5q13.1 general transcription factor IIH, polypeptide 2, 44kDa BIRC1 5q13.1 baculoviral IAP repeat-containing 1 SMN1 5q13.1 survival of motor neuron 1, telomeric LOC391791 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2 SMA3 5q13 SMA3 LOC389294 5 similar to bA110H4.2 (similar to membrane protein) LOC391792 5 similar to SMA3 protein LOC340089 5q13.2 similar to bA110H4.2 (similar to membrane protein) LOC391793 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2 SERF1A 5q13.1 small EDRK-rich factor 1A (telomeric) SMN2 5q13.1 survival of motor neuron 2, centromeric LOC389295 5 LOC389295 LOC389296 5 similar to Beta-glucuronidase precursor (Beta-G1) LOC389297 5 similar to bA110H4.2 (similar to membrane protein) LOC389298 5 similar to bA110H4.2 (similar to membrane protein) LOC389299 5 similar to Beta-glucuronidase precursor (Beta-G1) LOC391794 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2
    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