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GTF2H2

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Identifiers
SymbolsGTF2H2 ; BTF2; BTF2P44; T-BTF2P44; TFIIH; p44
External IDsOMIM601748 MGI1345669 HomoloGene1159 GeneCards: GTF2H2 Gene
Orthologs
SpeciesHumanMouse
Entrez296623894
EnsemblENSG00000145736ENSMUSG00000021639
UniProtQ13888Q9JIB4
RefSeq (mRNA)NM_001515NM_022011
RefSeq (protein)NP_001506NP_071294
Location (UCSC)Chr 5:
70.33 – 70.36 Mb
Chr 13:
100.46 – 100.49 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]

Function

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]

Interactions

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

See also

References

  1. ^ Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V (June 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. PMC 395104. PMID 8194529. 
  2. ^ a b "Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa". 
  3. ^ a b Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N et al. (July 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714–9. PMID 15220921. doi:10.1038/ng1387. 
  4. ^ a b Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E et al. (November 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. 26 (3): 307–13. PMID 11062469. doi:10.1038/81603. 
  5. ^ Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G et al. (March 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. PMC 1169708. PMID 9118947. doi:10.1093/emboj/16.5.1093. 
  6. ^ Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (October 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. 20 (2): 184–8. PMID 9771713. doi:10.1038/2491. 

Further reading

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


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