General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2gene.
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.
^Coin, F; Marinoni J C; Rodolfo C; Fribourg S; Pedrini A M; Egly J M (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. (UNITED STATES) 20 (2): 184–8. doi:10.1038/2491. ISSN1061-4036. PMID9771713.
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. PMID7552146.
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". Cell82 (4): 555–64. doi:10.1016/0092-8674(95)90028-4. PMID7664335.
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". Biochemistry35 (7): 2157–67. doi:10.1021/bi9524124. PMID8652557.
Parada CA, Roeder RG (1996). "Enhanced processivity of RNA polymerase II triggered by Tat-induced phosphorylation of its carboxy-terminal domain". Nature384 (6607): 375–8. doi:10.1038/384375a0. PMID8934526.
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. PMID9054383.
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. PMID9063743.