GTF2H2

General transcription factor IIH, polypeptide 2, 44kDa, also known as GTF2H2, is a human gene.cite web | title = Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2966| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2966| accessdate = ]

ee also

*Transcription Factor II H

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Svejstrup JQ, Vichi P, Egly JM |title=The multiple roles of transcription/repair factor TFIIH. |journal=Trends Biochem. Sci. |volume=21 |issue= 9 |pages= 346–50 |year= 1996 |pmid= 8870499 |doi=
*cite journal | author=Jeang KT |title=Tat, Tat-associated kinase, and transcription. |journal=J. Biomed. Sci. |volume=5 |issue= 1 |pages= 24–7 |year= 1998 |pmid= 9570510 |doi=
*cite journal | author=Yankulov K, Bentley D |title=Transcriptional control: Tat cofactors and transcriptional elongation. |journal=Curr. Biol. |volume=8 |issue= 13 |pages= R447–9 |year= 1998 |pmid= 9651670 |doi=
*cite journal | author=van der Steege G, Draaijers TG, Grootscholten PM, "et al." |title=A provisional transcript map of the spinal muscular atrophy (SMA) critical region. |journal=Eur. J. Hum. Genet. |volume=3 |issue= 2 |pages= 87–95 |year= 1995 |pmid= 7552146 |doi=
*cite journal | author=Henning KA, Li L, Iyer N, "et al." |title=The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. |journal=Cell |volume=82 |issue= 4 |pages= 555–64 |year= 1995 |pmid= 7664335 |doi=
*cite journal | author=Humbert S, van Vuuren H, Lutz Y, "et al." |title=p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. |journal=EMBO J. |volume=13 |issue= 10 |pages= 2393–8 |year= 1994 |pmid= 8194529 |doi=
*cite journal | author=Blau J, Xiao H, McCracken S, "et al." |title=Three functional classes of transcriptional activation domain. |journal=Mol. Cell. Biol. |volume=16 |issue= 5 |pages= 2044–55 |year= 1996 |pmid= 8628270 |doi=
*cite journal | author=Iyer N, Reagan MS, Wu KJ, "et al." |title=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. |journal=Biochemistry |volume=35 |issue= 7 |pages= 2157–67 |year= 1996 |pmid= 8652557 |doi= 10.1021/bi9524124
*cite journal | author=Reardon JT, Ge H, Gibbs E, "et al." |title=Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 13 |pages= 6482–7 |year= 1996 |pmid= 8692841 |doi=
*cite journal | author=Drapkin R, Le Roy G, Cho H, "et al." |title=Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 13 |pages= 6488–93 |year= 1996 |pmid= 8692842 |doi=
*cite journal | author=Zhou Q, Sharp PA |title=Tat-SF1: cofactor for stimulation of transcriptional elongation by HIV-1 Tat. |journal=Science |volume=274 |issue= 5287 |pages= 605–10 |year= 1996 |pmid= 8849451 |doi=
*cite journal | author=Parada CA, Roeder RG |title=Enhanced processivity of RNA polymerase II triggered by Tat-induced phosphorylation of its carboxy-terminal domain. |journal=Nature |volume=384 |issue= 6607 |pages= 375–8 |year= 1996 |pmid= 8934526 |doi= 10.1038/384375a0
*cite journal | author=Bürglen L, Seroz T, Miniou P, "et al." |title=The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. |journal=Am. J. Hum. Genet. |volume=60 |issue= 1 |pages= 72–9 |year= 1997 |pmid= 8981949 |doi=
*cite journal | author=García-Martínez LF, Ivanov D, Gaynor RB |title=Association of Tat with purified HIV-1 and HIV-2 transcription preinitiation complexes. |journal=J. Biol. Chem. |volume=272 |issue= 11 |pages= 6951–8 |year= 1997 |pmid= 9054383 |doi=
*cite journal | author=Carter TA, Bönnemann CG, Wang CH, "et al." |title=A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 229–36 |year= 1997 |pmid= 9063743 |doi=
*cite journal | author=Marinoni JC, Roy R, Vermeulen W, "et al." |title=Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. |journal=EMBO J. |volume=16 |issue= 5 |pages= 1093–102 |year= 1997 |pmid= 9118947 |doi= 10.1093/emboj/16.5.1093
*cite journal | author=Cujec TP, Cho H, Maldonado E, "et al." |title=The human immunodeficiency virus transactivator Tat interacts with the RNA polymerase II holoenzyme. |journal=Mol. Cell. Biol. |volume=17 |issue= 4 |pages= 1817–23 |year= 1997 |pmid= 9121429 |doi=
*cite journal | author=Rossignol M, Kolb-Cheynel I, Egly JM |title=Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH. |journal=EMBO J. |volume=16 |issue= 7 |pages= 1628–37 |year= 1997 |pmid= 9130708 |doi= 10.1093/emboj/16.7.1628
*cite journal | author=García-Martínez LF, Mavankal G, Neveu JM, "et al." |title=Purification of a Tat-associated kinase reveals a TFIIH complex that modulates HIV-1 transcription. |journal=EMBO J. |volume=16 |issue= 10 |pages= 2836–50 |year= 1997 |pmid= 9184228 |doi= 10.1093/emboj/16.10.2836

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