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General transcription factor IIH, polypeptide 2, 44kDa

PDB rendering based on 1z60.
Available structures
Symbols GTF2H2; BTF2; TFIIH; BTF2P44; MGC102806; T-BTF2P44
External IDs OMIM601748 MGI1345669 HomoloGene1159 GeneCards: GTF2H2 Gene
Species Human Mouse
Entrez 2966 23894
Ensembl n/a ENSMUSG00000021639
UniProt n/a Q7TPV0
RefSeq (mRNA) NM_001515 NM_022011
RefSeq (protein) NP_001506 NP_071294
Location (UCSC) n/a Chr 13:
101.57 - 101.59 Mb
PubMed search [1] [2]

General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2 gene.[1][2]

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene.[2]



GTF2H2 has been shown to interact with GTF2H5,[3][4] XPB[3][5] and ERCC2.[6][4]

See also


  1. ^ Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V (Jun 1994). "p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair". EMBO J 13 (10): 2393–8. PMID 8194529.  
  2. ^ a b "Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa".  
  3. ^ a b Giglia-Mari, Giuseppina; Coin Frederic, Ranish Jeffrey A, Hoogstraten Deborah, Theil Arjan, Wijgers Nils, Jaspers Nicolaas G J, Raams Anja, Argentini Manuela, van der Spek P J, Botta Elena, Stefanini Miria, Egly Jean-Marc, Aebersold Ruedi, Hoeijmakers Jan H J, Vermeulen Wim (Jul. 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. (United States) 36 (7): 714–9. doi:10.1038/ng1387. ISSN 1061-4036. PMID 15226750.  
  4. ^ a b Vermeulen, W; Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers J H, Egly J M (Nov. 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. (UNITED STATES) 26 (3): 307–13. doi:10.1038/81603. ISSN 1061-4036. PMID 11062454.  
  5. ^ Marinoni, J C; Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez D M, Hoeijmakers J H, Egly J M (Mar. 1997). "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH". EMBO J. (ENGLAND) 16 (5): 1093–102. doi:10.1093/emboj/16.5.1093. ISSN 0261-4189. PMID 9118947.  
  6. ^ Coin, F; Marinoni J C, Rodolfo C, Fribourg S, Pedrini A M, Egly J M (Oct. 1998). "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH". Nat. Genet. (UNITED STATES) 20 (2): 184–8. doi:10.1038/2491. ISSN 1061-4036. PMID 9771695.  

Further reading

  • Svejstrup JQ, Vichi P, Egly JM (1996). "The multiple roles of transcription/repair factor TFIIH.". Trends Biochem. Sci. 21 (9): 346–50. PMID 8870499.  
  • Jeang KT (1998). "Tat, Tat-associated kinase, and transcription.". J. Biomed. Sci. 5 (1): 24–7. doi:10.1007/BF02253352. PMID 9570510.  
  • Yankulov K, Bentley D (1998). "Transcriptional control: Tat cofactors and transcriptional elongation.". Curr. Biol. 8 (13): R447–9. doi:10.1016/S0960-9822(98)70289-1. PMID 9651670.  
  • van der Steege G, Draaijers TG, Grootscholten PM, et al. (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region.". Eur. J. Hum. Genet. 3 (2): 87–95. PMID 7552146.  
  • Henning KA, Li L, Iyer N, et al. (1995). "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.". Cell 82 (4): 555–64. doi:10.1016/0092-8674(95)90028-4. PMID 7664335.  
  • Blau J, Xiao H, McCracken S, et al. (1996). "Three functional classes of transcriptional activation domain.". Mol. Cell. Biol. 16 (5): 2044–55. PMID 8628270.  
  • Iyer N, Reagan MS, Wu KJ, et al. (1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein.". Biochemistry 35 (7): 2157–67. doi:10.1021/bi9524124. PMID 8652557.  
  • Reardon JT, Ge H, Gibbs E, et al. (1996). "Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH.". Proc. Natl. Acad. Sci. U.S.A. 93 (13): 6482–7. doi:10.1073/pnas.93.13.6482. PMID 8692841.  
  • Drapkin R, Le Roy G, Cho H, et al. (1996). "Human cyclin-dependent kinase-activating kinase exists in three distinct complexes.". Proc. Natl. Acad. Sci. U.S.A. 93 (13): 6488–93. doi:10.1073/pnas.93.13.6488. PMID 8692842.  
  • Zhou Q, Sharp PA (1996). "Tat-SF1: cofactor for stimulation of transcriptional elongation by HIV-1 Tat.". Science 274 (5287): 605–10. doi:10.1126/science.274.5287.605. PMID 8849451.  
  • Parada CA, Roeder RG (1996). "Enhanced processivity of RNA polymerase II triggered by Tat-induced phosphorylation of its carboxy-terminal domain.". Nature 384 (6607): 375–8. doi:10.1038/384375a0. PMID 8934526.  
  • Bürglen L, Seroz T, Miniou P, et al. (1997). "The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.". Am. J. Hum. Genet. 60 (1): 72–9. PMID 8981949.  
  • García-Martínez LF, Ivanov D, Gaynor RB (1997). "Association of Tat with purified HIV-1 and HIV-2 transcription preinitiation complexes.". J. Biol. Chem. 272 (11): 6951–8. doi:10.1074/jbc.272.11.6951. PMID 9054383.  
  • Carter TA, Bönnemann CG, Wang CH, et al. (1997). "A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.". Hum. Mol. Genet. 6 (2): 229–36. doi:10.1093/hmg/6.2.229. PMID 9063743.  
  • Marinoni JC, Roy R, Vermeulen W, et al. (1997). "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH.". Embo J. 16 (5): 1093–102. doi:10.1093/emboj/16.5.1093. PMID 9118947.  
  • Cujec TP, Cho H, Maldonado E, et al. (1997). "The human immunodeficiency virus transactivator Tat interacts with the RNA polymerase II holoenzyme.". Mol. Cell. Biol. 17 (4): 1817–23. PMID 9121429.  
  • Rossignol M, Kolb-Cheynel I, Egly JM (1997). "Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH.". Embo J. 16 (7): 1628–37. doi:10.1093/emboj/16.7.1628. PMID 9130708.  
  • García-Martínez LF, Mavankal G, Neveu JM, et al. (1997). "Purification of a Tat-associated kinase reveals a TFIIH complex that modulates HIV-1 transcription.". Embo J. 16 (10): 2836–50. doi:10.1093/emboj/16.10.2836. PMID 9184228.  

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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